Incidental Mutation 'R9609:Atp5mc2'
ID 724117
Institutional Source Beutler Lab
Gene Symbol Atp5mc2
Ensembl Gene ENSMUSG00000062683
Gene Name ATP synthase membrane subunit c locus 2
Synonyms Atp5g2, 1810041M08Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R9609 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 102571303-102579482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102573580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 79 (F79L)
Ref Sequence ENSEMBL: ENSMUSP00000075057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075630] [ENSMUST00000185641] [ENSMUST00000186952] [ENSMUST00000187160]
AlphaFold P56383
Predicted Effect probably damaging
Transcript: ENSMUST00000075630
AA Change: F79L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000075057
Gene: ENSMUSG00000062683
AA Change: F79L

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:ATP-synt_C 78 143 1.7e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185641
AA Change: F79L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140414
Gene: ENSMUSG00000062683
AA Change: F79L

DomainStartEndE-ValueType
low complexity region 9 31 N/A INTRINSIC
Pfam:ATP-synt_C 77 145 6.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186952
Predicted Effect probably damaging
Transcript: ENSMUST00000187160
AA Change: F77L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140323
Gene: ENSMUSG00000062683
AA Change: F77L

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,208,549 (GRCm39) S241P probably damaging Het
Adam23 A T 1: 63,576,102 (GRCm39) M295L probably benign Het
Ano8 T A 8: 71,933,726 (GRCm39) D522V unknown Het
Asgr2 T C 11: 69,988,667 (GRCm39) L120P probably damaging Het
Baiap2 C T 11: 119,847,958 (GRCm39) R29C probably damaging Het
Bicdl2 A G 17: 23,884,513 (GRCm39) E145G Het
Cad T C 5: 31,228,018 (GRCm39) probably null Het
Dhrs7b A G 11: 60,735,121 (GRCm39) R51G possibly damaging Het
Dnah3 A T 7: 119,670,236 (GRCm39) Y694N probably damaging Het
Dnaja4 G A 9: 54,616,644 (GRCm39) G216S probably null Het
Dync1h1 T C 12: 110,607,362 (GRCm39) V2651A probably benign Het
Fbxw28 T C 9: 109,167,515 (GRCm39) T81A probably benign Het
Fga A T 3: 82,940,064 (GRCm39) I573F probably damaging Het
Fgd6 T A 10: 93,879,674 (GRCm39) I176N probably damaging Het
Fhl5 A T 4: 25,214,653 (GRCm39) C41* probably null Het
Fibcd1 A G 2: 31,728,653 (GRCm39) V68A probably benign Het
Fign T C 2: 63,810,286 (GRCm39) D328G probably benign Het
Gtpbp10 A C 5: 5,607,396 (GRCm39) F15C probably damaging Het
Hmcn1 A T 1: 150,555,346 (GRCm39) V2475D probably damaging Het
Iglv3 A G 16: 19,060,221 (GRCm39) S36P probably damaging Het
Igsf10 G T 3: 59,226,869 (GRCm39) T2268N probably damaging Het
Krt75 A G 15: 101,474,677 (GRCm39) I473T probably benign Het
Lcn3 A G 2: 25,657,596 (GRCm39) E162G possibly damaging Het
Lnpk A G 2: 74,401,298 (GRCm39) V17A probably damaging Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mlip T A 9: 77,045,797 (GRCm39) L894F possibly damaging Het
Muc4 A T 16: 32,577,234 (GRCm39) T175S Het
Nkpd1 A C 7: 19,257,462 (GRCm39) I414L possibly damaging Het
Nrxn2 C A 19: 6,540,203 (GRCm39) N834K probably damaging Het
Oacyl A G 18: 65,843,599 (GRCm39) T99A probably benign Het
Patj T G 4: 98,576,473 (GRCm39) F570L probably benign Het
Piwil4 T C 9: 14,614,443 (GRCm39) T107A Het
Ppp1r12b G A 1: 134,824,084 (GRCm39) Q180* probably null Het
Prpf4b A G 13: 35,068,032 (GRCm39) D287G unknown Het
Rab17 T C 1: 90,891,907 (GRCm39) Y39C probably damaging Het
Rbsn T A 6: 92,179,565 (GRCm39) I125F probably damaging Het
Rnf207 C A 4: 152,402,222 (GRCm39) G74C probably damaging Het
Rrs1 T C 1: 9,616,518 (GRCm39) L257P probably benign Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Scn8a A C 15: 100,834,407 (GRCm39) I68L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a7 T A 4: 14,532,636 (GRCm39) I413F probably damaging Het
Slc4a11 T A 2: 130,530,035 (GRCm39) T248S possibly damaging Het
Spen A G 4: 141,215,419 (GRCm39) I471T unknown Het
Tbpl2 C T 2: 23,977,197 (GRCm39) D274N probably damaging Het
Timm23 A G 14: 31,902,543 (GRCm39) M200T probably benign Het
Tlr3 T C 8: 45,850,117 (GRCm39) I851V probably benign Het
Tnfrsf18 T A 4: 156,113,208 (GRCm39) V298E possibly damaging Het
Trav6-3 A G 14: 53,667,618 (GRCm39) N41S possibly damaging Het
Trim17 C A 11: 58,855,964 (GRCm39) A7D probably damaging Het
Ttbk1 T C 17: 46,758,148 (GRCm39) T829A probably damaging Het
Ugt3a1 A C 15: 9,361,905 (GRCm39) E227A probably damaging Het
Vmn1r218 C T 13: 23,320,839 (GRCm39) T62I probably benign Het
Vmn2r100 T C 17: 19,743,732 (GRCm39) L465P probably damaging Het
Vps13c A T 9: 67,841,831 (GRCm39) Q1951L probably damaging Het
Wdcp A G 12: 4,900,258 (GRCm39) D38G probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zc3h4 T A 7: 16,150,751 (GRCm39) V23D unknown Het
Zkscan8 C A 13: 21,709,434 (GRCm39) V155F possibly damaging Het
Other mutations in Atp5mc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0091:Atp5mc2 UTSW 15 102,571,492 (GRCm39) missense probably damaging 1.00
R7400:Atp5mc2 UTSW 15 102,573,547 (GRCm39) missense possibly damaging 0.54
R7530:Atp5mc2 UTSW 15 102,576,183 (GRCm39) start codon destroyed probably null 1.00
R9259:Atp5mc2 UTSW 15 102,571,561 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAGTTAGTGGCCTCTGCAC -3'
(R):5'- CATTGAGGGAGGAACATCAGATTTG -3'

Sequencing Primer
(F):5'- CTGCACAGGACAGTGAAGCTC -3'
(R):5'- GCCAGCCTAGCAGTTTGAAATAGTAC -3'
Posted On 2022-09-12