Incidental Mutation 'R7332:Atp6v0c'
ID 569327
Institutional Source Beutler Lab
Gene Symbol Atp6v0c
Ensembl Gene ENSMUSG00000024121
Gene Name ATPase, H+ transporting, lysosomal V0 subunit C
Synonyms Atp6l, Atp6c2, H(+)-ATPase (mvp), Atpl-rs1, PL16, proteolipid, Atpl
MMRRC Submission 045425-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7332 (G1)
Quality Score 147.008
Status Validated
Chromosome 17
Chromosomal Location 24382839-24388652 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 24388198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 21 (S21A)
Ref Sequence ENSEMBL: ENSMUSP00000024932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024932] [ENSMUST00000098862] [ENSMUST00000148541] [ENSMUST00000150647] [ENSMUST00000202853]
AlphaFold P63082
Predicted Effect probably benign
Transcript: ENSMUST00000024932
AA Change: S21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000024932
Gene: ENSMUSG00000024121
AA Change: S21A

DomainStartEndE-ValueType
Pfam:ATP-synt_C 14 79 5.6e-17 PFAM
Pfam:ATP-synt_C 90 155 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098862
AA Change: S21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111059
Gene: ENSMUSG00000024121
AA Change: S21A

DomainStartEndE-ValueType
Pfam:ATP-synt_C 15 77 1.1e-14 PFAM
Pfam:ATP-synt_C 92 153 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148541
AA Change: S21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121464
Gene: ENSMUSG00000024121
AA Change: S21A

DomainStartEndE-ValueType
Pfam:ATP-synt_C 14 79 5.2e-17 PFAM
Pfam:ATP-synt_C 90 150 1.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150647
SMART Domains Protein: ENSMUSP00000122843
Gene: ENSMUSG00000024121

DomainStartEndE-ValueType
Pfam:ATP-synt_C 32 85 5.1e-15 PFAM
transmembrane domain 93 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000202853
SMART Domains Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169

DomainStartEndE-ValueType
TBC 42 259 8.8e-6 SMART
Blast:TLDc 283 321 4e-13 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 A G 19: 56,906,553 (GRCm39) S449P probably damaging Het
Cacna1e T C 1: 154,601,547 (GRCm39) Y40C possibly damaging Het
Cdadc1 A G 14: 59,813,213 (GRCm39) I398T possibly damaging Het
Cfap44 T A 16: 44,250,191 (GRCm39) D756E probably damaging Het
Clcnkb A T 4: 141,141,243 (GRCm39) L104Q probably null Het
Clk1 G A 1: 58,451,853 (GRCm39) H421Y probably benign Het
Cmpk2 A T 12: 26,528,061 (GRCm39) D426V probably damaging Het
Cmya5 A G 13: 93,229,061 (GRCm39) L2009S possibly damaging Het
Col5a2 C G 1: 45,419,325 (GRCm39) D1252H probably damaging Het
Coro1b A G 19: 4,199,356 (GRCm39) K5R probably benign Het
Csmd2 A G 4: 128,313,360 (GRCm39) T1346A Het
Csrp1 G T 1: 135,667,149 (GRCm39) W4L probably benign Het
Cyp3a25 A G 5: 145,929,817 (GRCm39) I184T probably damaging Het
Egfl7 C A 2: 26,480,725 (GRCm39) R128S probably benign Het
Fggy A T 4: 95,511,719 (GRCm39) N157I probably damaging Het
Gldc A T 19: 30,093,926 (GRCm39) L697Q probably damaging Het
Gm4952 T A 19: 12,604,373 (GRCm39) Y262N probably damaging Het
Gsap T A 5: 21,495,119 (GRCm39) M821K probably benign Het
Hps1 T C 19: 42,766,351 (GRCm39) probably null Het
Hsbp1l1 T C 18: 80,280,038 (GRCm39) probably benign Het
Igfbp7 G A 5: 77,499,803 (GRCm39) T220I probably damaging Het
Ints3 T C 3: 90,322,819 (GRCm39) Q137R probably damaging Het
Kcna6 A G 6: 126,716,292 (GRCm39) F199S possibly damaging Het
Kirrel1 T C 3: 86,995,705 (GRCm39) I410V probably benign Het
Llgl2 T C 11: 115,739,125 (GRCm39) V332A probably damaging Het
Lrrc27 A G 7: 138,822,661 (GRCm39) I517M probably damaging Het
Mas1 T C 17: 13,061,106 (GRCm39) T106A probably benign Het
Mast4 T A 13: 102,887,932 (GRCm39) Y1159F possibly damaging Het
Mmp2 A G 8: 93,576,780 (GRCm39) D601G probably damaging Het
Mycbp2 T A 14: 103,434,793 (GRCm39) I2217F probably damaging Het
Mycbp2 A G 14: 103,393,889 (GRCm39) S2891P probably damaging Het
Naip6 A G 13: 100,437,209 (GRCm39) V438A possibly damaging Het
Or4g17 A G 2: 111,209,738 (GRCm39) H131R not run Het
Pdf T C 8: 107,775,173 (GRCm39) R20G probably benign Het
Pfdn2 T C 1: 171,184,162 (GRCm39) L47P probably damaging Het
Pik3c2g C A 6: 139,841,981 (GRCm39) N795K Het
Ppip5k1 A T 2: 121,142,450 (GRCm39) V1333D probably damaging Het
Pramel51 T C 12: 88,143,187 (GRCm39) T339A possibly damaging Het
Prss44 A T 9: 110,644,530 (GRCm39) I213F probably damaging Het
Rbm47 A G 5: 66,183,557 (GRCm39) Y349H probably damaging Het
Rcl1 A T 19: 29,108,096 (GRCm39) T253S probably benign Het
Rdh1 A G 10: 127,595,754 (GRCm39) probably benign Het
Scn7a C T 2: 66,522,898 (GRCm39) W935* probably null Het
Sec24b T C 3: 129,835,042 (GRCm39) N52S probably benign Het
Serpinb5 A T 1: 106,800,091 (GRCm39) I94L probably benign Het
Setx T C 2: 29,036,638 (GRCm39) V1041A probably benign Het
Slco3a1 G A 7: 73,968,232 (GRCm39) A496V possibly damaging Het
Spag5 T A 11: 78,204,205 (GRCm39) L486* probably null Het
Spink5 T C 18: 44,115,317 (GRCm39) I183T probably damaging Het
Srd5a1 T C 13: 69,759,173 (GRCm39) Y65C probably benign Het
Ssh2 T A 11: 77,344,349 (GRCm39) I778N possibly damaging Het
Sstr1 C T 12: 58,260,172 (GRCm39) S265L probably damaging Het
Syne2 T A 12: 76,014,529 (GRCm39) probably null Het
Tctn1 A T 5: 122,399,547 (GRCm39) D92E probably damaging Het
Tiam2 A G 17: 3,503,644 (GRCm39) I940M probably damaging Het
Tmeff2 T C 1: 51,018,599 (GRCm39) W194R unknown Het
Tomm20 T C 8: 127,663,903 (GRCm39) T94A probably benign Het
Ucn2 A G 9: 108,815,532 (GRCm39) N98S probably benign Het
V1rd19 A T 7: 23,702,743 (GRCm39) I70L probably benign Het
Vmn1r18 A G 6: 57,367,503 (GRCm39) L17P probably benign Het
Vmn2r61 A G 7: 41,909,534 (GRCm39) T20A probably benign Het
Wdr59 G A 8: 112,220,986 (GRCm39) T182I Het
Zfp40 A T 17: 23,395,155 (GRCm39) C477* probably null Het
Zfp68 A G 5: 138,604,830 (GRCm39) S498P possibly damaging Het
Zfp729b T C 13: 67,757,755 (GRCm39) probably null Het
Zfp846 T G 9: 20,505,521 (GRCm39) N460K probably benign Het
Zim1 T C 7: 6,680,352 (GRCm39) Y437C probably damaging Het
Other mutations in Atp6v0c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2002:Atp6v0c UTSW 17 24,383,835 (GRCm39) missense probably damaging 0.98
R8133:Atp6v0c UTSW 17 24,383,553 (GRCm39) missense possibly damaging 0.94
R9504:Atp6v0c UTSW 17 24,383,493 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- CTTCCCAGGACTAAGATGGCAG -3'
(R):5'- TGCTGGTATTTAGAGCGCAG -3'

Sequencing Primer
(F):5'- TGATAAGACCCGCAGCCG -3'
(R):5'- CCTGACTGGCGGGGTCG -3'
Posted On 2019-09-13