OMIA:001485-9913 : Dwarfism, PRKG2-related in Bos taurus (taurine cattle) |
In other species: dog
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601591 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2009
Cross-species summary: 'Dwarfism, Angus' was renamed to 'Dwarfism, PRKG2-related' [29/10/2021]
Mapping: Koltes et al. (2009) "assembled a 4-generation pedigree to identify the mutation underlying dwarfism in American Angus cattle. .... The dwarfism locus was fine-mapped to BTA6 between markers AFR227 and BM4311."
Molecular basis:
Koltes et al. (2009) "Four candidate genes were sequenced, revealing a nonsense mutation in exon 15 of cGMP-dependant type II protein kinase (PRKG2). This C/T transition introduced a stop codon (R678X) that truncated 85 C-terminal amino acids, including a large portion of the kinase domain." The same variant was listed in OMIA twice as omia.variant:291 and omia.variant:352. The duplicated omia.variant:352 was deleted [1/9/2026].
Breed:
Angus (Cattle) (VBO_0000104).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PRKG2 | protein kinase cGMP-dependent 2 | Bos taurus | 6 | NC_037333.1 (96003716..95867278) | PRKG2 | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 291 | Angus (Cattle) | Dwarfism, Angus | PRKG2 | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | ARS-UCD1.3 | 6 | NC_037333.1:g.95896205G>A | NM_001144099.1:c.2032C>T | NP_001137571.1:p.(R678*) | Published as Nt2032 (C-T) / R678X . Previously listed in this table based on ensembl transcripts as c.1573C>T / p.(R525*). Updated to reflect NCBI transcripts [1/9/2026] | rs109639251 | 2009 | 19887637 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001485-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2009 | Koltes, JE., Mishra, BP., Kumar, D., Kataria, RS., Totir, LR., Fernando, RL., Cobbold, R., Steffen, D., Coppieters, W., Georges, M., Reecy, JM. : |
| A nonsense mutation in cGMP-dependent type II protein kinase (PRKG2) causes dwarfism in American Angus cattle. Proc Natl Acad Sci U S A 106:19250-5, 2009. Pubmed reference: 19887637. DOI: 10.1073/pnas.0904513106. | |
| 2006 | Latter, MR., Latter, BD., Wilkins, JF., Windsor, PA. : |
| Inheritance of proportionate dwarfism in Angus cattle. Aust Vet J 84:122-8, 2006. Pubmed reference: 16629191. DOI: 10.1111/j.1751-0813.2006.tb13394.x. | |
| 2003 | Mishra, BP., Reecy, JM. : |
| Mutations in the limbin gene previously associated with dwarfism in Japanese brown cattle are not responsible for dwarfism in the American Angus breed. Anim Genet 34:311-2, 2003. Pubmed reference: 12873227. | |
| 1993 | Harper, P.A.W., Latter, M.R. : |
| Proportionate dwarfism in Angus cattle Aust Vet J 70:450, 1993. Pubmed reference: 8117211. DOI: 10.1111/j.1751-0813.1993.tb00847.x. | |
| 1982 | Swartz, HA., Vogt, DW., Kintner, LD. : |
| Chromosome evaluation of Angus calves with unilateral congenital cleft lip and jaw (cheilognathoschisis). Am J Vet Res 43:729-31, 1982. Pubmed reference: 7073098. | |
| 1965 | Bovard, K.P., Proide, B.M. : |
| Snorter dwarfism in an Angus inbred line Journal of Heredity 56:243-246, 1965. Pubmed reference: 5893032. |
Edit History
- Created by Frank Nicholas on 08 Apr 2010
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Imke Tammen on 18 Jun 2024
- Changed by Imke Tammen on 01 Sep 2026