OMIA:002848-9913 : Spermatogenic failure, QRICH2 in Bos taurus (taurine cattle)

Categories: Reproductive system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 618304 (gene) , 618341 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific name: low sperm count and immotile sperm with multiple morphological abnormalities

Molecular basis: Hiltpold et al. (2022) investigated a Brown Swiss bull with low semen quality: "The genome of this bull was sequenced at a 12× coverage to investigate a possible genetic cause. Comparing the sequence variant genotypes of this bull with those from 397 fertile bulls revealed a 1-bp deletion in the coding sequence of the QRICH2 gene which encodes the glutamine rich 2 protein, as a compelling candidate causal variant. This 1-bp deletion causes a frameshift in translation and a premature termination codon (ENSBTAP00000018337.1:p.Cys1644AlafsTer52) [OMIAvariantID:1689]." A second bull that carried the 1-bp deletion in the homozygous state also presented with low semen quality.

Clinical features: Hiltpold et al. (2022) reported that the two affected bulls presented with "low sperm concentration and immotile sperm with multiple morphological abnormalities that primarily affect the sperm flagellum and, to a lesser extent, the sperm head."

Breed: Brown Swiss (Cattle) (VBO_0000166).
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
QRICH2 glutamine rich 2 Bos taurus 19 NC_037346.1 (55413706..55443893) QRICH2 Homologene, Ensembl , NCBI gene


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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
1689 Brown Swiss (Cattle) Spermatogenic failure, QRICH2-related QRICH2 deletion, small (<=20) Naturally occurring variant ARS-UCD1.3 19 NC_037346.1:g.55436710del XM_002696205.5:c.4929del XP_002696251.3:C1644Afs*52 Coordinates in this table consider 3' rule of HGVS recommendation 2022 35255804

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002848-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2022 Hiltpold, M., Janett, F., Mapel, X.M., Kadri, N.K., Fang, Z.H., Schwarzenbacher, H., Seefried, F.R., Spengeler, M., Witschi, U., Pausch, H. :
A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities. Genet Sel Evol 54:18, 2022. Pubmed reference: 35255804. DOI: 10.1186/s12711-022-00710-0.

Edit History

  • Created by Imke Tammen2 on 01 May 2024
  • Changed by Imke Tammen2 on 01 May 2024