Incidental Mutation 'R0091:Atp5mc2'
ID 20240
Institutional Source Beutler Lab
Gene Symbol Atp5mc2
Ensembl Gene ENSMUSG00000062683
Gene Name ATP synthase membrane subunit c locus 2
Synonyms Atp5g2, 1810041M08Rik
MMRRC Submission 038378-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.799) question?
Stock # R0091 (G1)
Quality Score 130
Status Validated (trace)
Chromosome 15
Chromosomal Location 102571303-102579482 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 102571492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 133 (L133R)
Ref Sequence ENSEMBL: ENSMUSP00000140414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075630] [ENSMUST00000185641] [ENSMUST00000186952] [ENSMUST00000187160]
AlphaFold P56383
Predicted Effect probably damaging
Transcript: ENSMUST00000075630
AA Change: L133R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075057
Gene: ENSMUSG00000062683
AA Change: L133R

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: L133R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140414
Gene: ENSMUSG00000062683
AA Change: L133R

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 benign
Transcript: ENSMUST00000187160
SMART Domains Protein: ENSMUSP00000140323
Gene: ENSMUSG00000062683

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231102
Meta Mutation Damage Score 0.9559 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.9%
  • 10x: 94.4%
  • 20x: 84.5%
Validation Efficiency 98% (86/88)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,932,179 (GRCm39) S278P possibly damaging Het
Adam11 A G 11: 102,663,665 (GRCm39) Y281C probably damaging Het
Adam6a G T 12: 113,507,849 (GRCm39) R74L possibly damaging Het
Adcy5 T C 16: 35,091,368 (GRCm39) probably null Het
Adrb2 A G 18: 62,312,090 (GRCm39) L245P probably benign Het
Aebp2 T C 6: 140,589,800 (GRCm39) probably null Het
Arhgap23 A G 11: 97,343,070 (GRCm39) T240A probably benign Het
Atp10a T C 7: 58,423,794 (GRCm39) probably benign Het
Atp13a4 T A 16: 29,274,213 (GRCm39) Y416F probably damaging Het
Bicral A T 17: 47,136,233 (GRCm39) Y326N probably damaging Het
Chst4 T C 8: 110,757,297 (GRCm39) S189G probably damaging Het
Cnot1 A T 8: 96,489,772 (GRCm39) I477N probably damaging Het
Col7a1 G T 9: 108,796,574 (GRCm39) probably benign Het
Dchs1 A G 7: 105,415,301 (GRCm39) probably benign Het
Dcn A G 10: 97,342,551 (GRCm39) N169S probably benign Het
Dnajc6 T C 4: 101,473,974 (GRCm39) probably benign Het
Egln3 A G 12: 54,228,432 (GRCm39) F225L probably benign Het
Erap1 G A 13: 74,816,171 (GRCm39) R100Q possibly damaging Het
Erc2 A T 14: 27,498,781 (GRCm39) probably null Het
Fto G A 8: 92,168,435 (GRCm39) probably null Het
Gdap1l1 C T 2: 163,288,011 (GRCm39) P80S probably damaging Het
Gm1123 T C 9: 98,905,405 (GRCm39) E35G possibly damaging Het
Hhipl1 A G 12: 108,288,156 (GRCm39) probably benign Het
Ift80 A T 3: 68,822,008 (GRCm39) L679Q probably damaging Het
Il18 A G 9: 50,488,013 (GRCm39) probably benign Het
Inhbb T C 1: 119,345,125 (GRCm39) Y388C probably damaging Het
Kmt2d G T 15: 98,742,360 (GRCm39) probably benign Het
Krt20 A G 11: 99,328,640 (GRCm39) V95A probably damaging Het
Lck A T 4: 129,449,474 (GRCm39) S274R possibly damaging Het
Lrp1 T A 10: 127,376,848 (GRCm39) N4243I probably damaging Het
Lrrfip2 G A 9: 111,043,311 (GRCm39) V506I probably damaging Het
Ltbp2 A G 12: 84,840,507 (GRCm39) C1000R probably damaging Het
Matn3 G A 12: 9,002,105 (GRCm39) D106N probably damaging Het
Mical2 A G 7: 111,980,503 (GRCm39) E49G probably benign Het
Mmadhc A G 2: 50,182,869 (GRCm39) S36P probably damaging Het
Morn1 T C 4: 155,229,629 (GRCm39) Y433H probably damaging Het
Mpo A G 11: 87,692,436 (GRCm39) M525V probably benign Het
Myo5a C T 9: 75,068,774 (GRCm39) R659C probably damaging Het
Obox6 T C 7: 15,568,364 (GRCm39) S171G probably benign Het
Or1j18 A G 2: 36,624,917 (GRCm39) N195D probably damaging Het
Or4k36 T A 2: 111,146,518 (GRCm39) D231E probably benign Het
Or5g29 A T 2: 85,421,696 (GRCm39) N271Y probably benign Het
P2ry14 A G 3: 59,023,314 (GRCm39) Y49H probably benign Het
Papss2 C T 19: 32,611,302 (GRCm39) T17I possibly damaging Het
Pcid2 T C 8: 13,135,392 (GRCm39) T206A probably benign Het
Pex6 A G 17: 47,022,844 (GRCm39) E140G probably damaging Het
Ppp1r3b A G 8: 35,851,821 (GRCm39) Y220C probably damaging Het
Prdx2 T G 8: 85,698,330 (GRCm39) probably benign Het
Ptbp2 A T 3: 119,514,310 (GRCm39) L471Q probably damaging Het
Rbm33 T A 5: 28,557,604 (GRCm39) D232E possibly damaging Het
Rnf214 T A 9: 45,809,791 (GRCm39) probably null Het
Rora G A 9: 69,281,330 (GRCm39) R314H probably damaging Het
Rufy4 T C 1: 74,168,095 (GRCm39) probably benign Het
Sag T C 1: 87,742,402 (GRCm39) V58A probably damaging Het
Serpina3i C T 12: 104,231,423 (GRCm39) T20M probably damaging Het
Slc4a5 A G 6: 83,254,537 (GRCm39) N578S probably benign Het
Soat2 A G 15: 102,066,574 (GRCm39) Y285C probably damaging Het
Syk A G 13: 52,794,769 (GRCm39) Y478C probably damaging Het
Syne4 G A 7: 30,018,344 (GRCm39) G362E probably damaging Het
Tas2r126 A T 6: 42,412,036 (GRCm39) M190L probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Ttc19 A G 11: 62,199,910 (GRCm39) D218G probably damaging Het
Tut1 T C 19: 8,942,800 (GRCm39) V629A probably damaging Het
Txndc11 T C 16: 10,905,968 (GRCm39) N521D probably benign Het
Ushbp1 T C 8: 71,841,614 (GRCm39) E405G possibly damaging Het
Usp46 C T 5: 74,163,918 (GRCm39) R246Q probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Vmn2r104 T A 17: 20,262,075 (GRCm39) I352F possibly damaging Het
Wdr4 G A 17: 31,715,890 (GRCm39) T398I probably benign Het
Ythdc1 T A 5: 86,968,560 (GRCm39) probably benign Het
Other mutations in Atp5mc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9609:Atp5mc2 UTSW 15 102,573,580 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCTCTGTCAAACCCTGAGCCAAG -3'
(R):5'- TTGCACACAGGCTGTCAACACC -3'

Sequencing Primer
(F):5'- TGAGCCAAGCACTTTCCC -3'
(R):5'- GGCTGTCAACACCATCTAAGATTG -3'
Posted On 2013-04-11