Incidental Mutation 'R1372:Cox7a2'
ID 157373
Institutional Source Beutler Lab
Gene Symbol Cox7a2
Ensembl Gene ENSMUSG00000032330
Gene Name cytochrome c oxidase subunit 7A2
Synonyms COX7AL, Cox7a3
MMRRC Submission 039436-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1372 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 79662643-79667160 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 79665819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 21 (R21*)
Ref Sequence ENSEMBL: ENSMUSP00000034881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034881]
AlphaFold P48771
Predicted Effect probably null
Transcript: ENSMUST00000034881
AA Change: R21*
SMART Domains Protein: ENSMUSP00000034881
Gene: ENSMUSG00000032330
AA Change: R21*

DomainStartEndE-ValueType
Pfam:COX7a 26 77 8.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215452
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215933
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,696 (GRCm39) Q137L possibly damaging Het
Abca12 A G 1: 71,334,016 (GRCm39) I1162T probably damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Adgre5 G A 8: 84,454,949 (GRCm39) P248S probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Asxl3 T G 18: 22,543,066 (GRCm39) S20A probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Car10 A T 11: 93,469,525 (GRCm39) T167S probably benign Het
Cbx7 C T 15: 79,803,074 (GRCm39) G160R probably damaging Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cdca4 G A 12: 112,785,537 (GRCm39) Q64* probably null Het
Cela2a C T 4: 141,546,405 (GRCm39) G178D probably damaging Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Crmp1 G A 5: 37,446,155 (GRCm39) G604R probably benign Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cxcr1 T C 1: 74,231,161 (GRCm39) D287G probably benign Het
Cyp4a12b T C 4: 115,290,146 (GRCm39) I233T probably benign Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dsg4 C A 18: 20,582,733 (GRCm39) probably null Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Hmcn1 A T 1: 150,556,466 (GRCm39) M2440K probably benign Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Mphosph9 A T 5: 124,421,808 (GRCm39) probably null Het
Mpp3 A G 11: 101,891,401 (GRCm39) V579A probably damaging Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pdgfra A G 5: 75,349,924 (GRCm39) E936G probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Plekhg5 G A 4: 152,189,188 (GRCm39) R243H probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rbm15 G T 3: 107,239,946 (GRCm39) R151S possibly damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Rhcg A T 7: 79,249,122 (GRCm39) D366E probably benign Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Other mutations in Cox7a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01756:Cox7a2 APN 9 79,665,837 (GRCm39) missense probably benign 0.28
R1349:Cox7a2 UTSW 9 79,665,819 (GRCm39) nonsense probably null
R1536:Cox7a2 UTSW 9 79,665,863 (GRCm39) critical splice acceptor site probably null
R4078:Cox7a2 UTSW 9 79,665,852 (GRCm39) nonsense probably null
R6035:Cox7a2 UTSW 9 79,667,028 (GRCm39) start gained probably benign
R6035:Cox7a2 UTSW 9 79,667,028 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TCCCTGAGCACCTCTTAGACACAG -3'
(R):5'- CATGTGCCCTCCACTGCAAAGT -3'

Sequencing Primer
(F):5'- TCTTAGACACAGCAAATAATCCTCC -3'
(R):5'- gccttggctatcctggaac -3'
Posted On 2014-02-18