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)
Mendelian 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]
Breed:
Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
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 | Homologene, 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 | Type of Variant | Source of Genetic Variant | 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 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.2 | 6 | g.95896205G>A | c.1573C>T | p.(R525*) | rs109639251 | 2009 | 19887637 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool | ||
| 352 | Angus (Cattle) | Dwarfism, Angus | PRKG2 | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.3 | 6 | NC_037333.1:g.95896205G>A | NM_001144099.1:c.2032C>T | NP_001137571.1:p.(R678*) | ENSBTAT00000003877.4:c.2032C>T ENSBTAP00000003877.4:p.Arg678Ter | rs109639251 | 2009 | 19887637 | Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). 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 Tammen2 on 18 Jun 2024