Incidental Mutation 'R6782:Atp5mc3'
ID 531447
Institutional Source Beutler Lab
Gene Symbol Atp5mc3
Ensembl Gene ENSMUSG00000018770
Gene Name ATP synthase membrane subunit c locus 3
Synonyms Atp5g3
MMRRC Submission 044896-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.308) question?
Stock # R6782 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 73738791-73741670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73739672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 56 (R56Q)
Ref Sequence ENSEMBL: ENSMUSP00000107627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018914] [ENSMUST00000111996]
AlphaFold P56384
Predicted Effect probably benign
Transcript: ENSMUST00000018914
AA Change: R56Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018914
Gene: ENSMUSG00000018770
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:ATP-synt_C 73 138 7.9e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111996
AA Change: R56Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107627
Gene: ENSMUSG00000018770
AA Change: R56Q

DomainStartEndE-ValueType
Pfam:ATP-synt_C 72 140 2.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a subunit of mitochondrial membrane ATP synthase, the enzyme that catalyzes ATP synthesis during oxidative phosphorylation. This gene encodes subunit 9, which is present in multiple copies in the transmembrane part of the ATP synthase complex. Phenotype and gene expression profiles suggest correlations between this gene and alcoholism- and obesity-related phenotypes. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 C T 7: 119,847,308 (GRCm39) A724V probably damaging Het
Abcc3 A T 11: 94,249,776 (GRCm39) F1055L probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Ankrd17 T C 5: 90,402,597 (GRCm39) K1488R possibly damaging Het
Ano1 G A 7: 144,175,424 (GRCm39) T498I probably damaging Het
Arhgap42 T A 9: 9,115,721 (GRCm39) K118N probably damaging Het
Arl5b A G 2: 15,077,993 (GRCm39) E106G probably damaging Het
Bbx T C 16: 50,020,928 (GRCm39) R749G probably benign Het
Cacna1g A G 11: 94,350,376 (GRCm39) S490P probably damaging Het
Ccdc63 A T 5: 122,249,077 (GRCm39) Y417* probably null Het
Cep162 A T 9: 87,093,737 (GRCm39) N880K probably benign Het
Chd2 G A 7: 73,125,127 (GRCm39) Q77* probably null Het
Cntrl T G 2: 35,060,658 (GRCm39) M1397R possibly damaging Het
Dcaf7 A G 11: 105,945,581 (GRCm39) Y310C probably damaging Het
Dnah5 T A 15: 28,449,302 (GRCm39) S4235T possibly damaging Het
Dot1l C T 10: 80,625,224 (GRCm39) P1157L probably damaging Het
Esco2 T C 14: 66,057,465 (GRCm39) T577A probably benign Het
Foxp1 T C 6: 98,907,106 (GRCm39) D624G probably damaging Het
Gfi1 A T 5: 107,873,819 (GRCm39) probably null Het
Gm10985 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 3: 53,752,626 (GRCm39) probably null Het
Gm5113 G A 7: 29,878,178 (GRCm39) V89I probably benign Het
Gtf3c2 A C 5: 31,327,180 (GRCm39) L382R probably benign Het
H3c2 T C 13: 23,936,393 (GRCm39) S11P probably benign Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Htr5b T C 1: 121,438,227 (GRCm39) I335V probably benign Het
Ifi206 A G 1: 173,308,923 (GRCm39) S358P unknown Het
Loxhd1 T A 18: 77,518,873 (GRCm39) V1893D probably damaging Het
Mical2 A G 7: 111,945,968 (GRCm39) R11G probably damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Npr1 T C 3: 90,363,560 (GRCm39) N821S probably benign Het
Or4g16 A G 2: 111,137,090 (GRCm39) D180G probably damaging Het
Or52a24 A G 7: 103,381,549 (GRCm39) T139A possibly damaging Het
Or5p63 T C 7: 107,811,670 (GRCm39) D22G probably benign Het
Or5p70 T G 7: 107,994,744 (GRCm39) M139R probably damaging Het
Pi4ka T A 16: 17,143,852 (GRCm39) D739V probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Ptprd T C 4: 76,243,377 (GRCm39) probably null Het
Ralgapb G A 2: 158,278,486 (GRCm39) G5R probably damaging Het
Ric8b T C 10: 84,783,391 (GRCm39) V83A probably damaging Het
Sdc2 C A 15: 33,028,281 (GRCm39) T133K probably damaging Het
Slc12a7 T A 13: 73,947,088 (GRCm39) V592D probably damaging Het
Sorcs1 G T 19: 50,164,560 (GRCm39) Y990* probably null Het
Spata13 G T 14: 60,928,912 (GRCm39) G157W probably damaging Het
Tada1 A G 1: 166,217,541 (GRCm39) N226S probably benign Het
Tenm3 A G 8: 49,099,291 (GRCm39) probably null Het
Tll1 A G 8: 64,524,315 (GRCm39) V457A probably benign Het
Tmem232 T C 17: 65,807,119 (GRCm39) K25E possibly damaging Het
Tnrc18 T C 5: 142,773,063 (GRCm39) S406G unknown Het
Ush2a A G 1: 188,089,031 (GRCm39) M329V probably benign Het
Vmn2r107 T C 17: 20,577,141 (GRCm39) S380P probably damaging Het
Vmn2r73 A G 7: 85,519,563 (GRCm39) M465T probably benign Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp217 T C 2: 169,958,178 (GRCm39) D463G probably damaging Het
Zfp345 T C 2: 150,315,274 (GRCm39) S88G probably damaging Het
Zfp975 A C 7: 42,311,454 (GRCm39) N386K probably benign Het
Other mutations in Atp5mc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Atp5mc3 APN 2 73,740,270 (GRCm39) nonsense probably null
IGL01125:Atp5mc3 APN 2 73,741,293 (GRCm39) splice site probably benign
IGL01945:Atp5mc3 APN 2 73,741,313 (GRCm39) missense probably benign
R1280:Atp5mc3 UTSW 2 73,739,714 (GRCm39) missense possibly damaging 0.67
R4254:Atp5mc3 UTSW 2 73,740,319 (GRCm39) intron probably benign
R5713:Atp5mc3 UTSW 2 73,739,651 (GRCm39) missense probably benign
R7939:Atp5mc3 UTSW 2 73,740,206 (GRCm39) critical splice donor site probably null
R9667:Atp5mc3 UTSW 2 73,739,567 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAGTCTTCACCTTACTCTGACAG -3'
(R):5'- AACTTTTGGCCAGCACAACC -3'

Sequencing Primer
(F):5'- TCTGACAGACATGATTACCTGGC -3'
(R):5'- TGGCCAGCACAACCTTCTG -3'
Posted On 2018-08-29