Incidental Mutation 'IGL01520:Atp6v1c2'
ID90458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1c2
Ensembl Gene ENSMUSG00000020566
Gene NameATPase, H+ transporting, lysosomal V1 subunit C2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.215) question?
Stock #IGL01520
Quality Score
Status
Chromosome12
Chromosomal Location17284721-17329359 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17297753 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 149 (L149Q)
Ref Sequence ENSEMBL: ENSMUSP00000152515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000153090] [ENSMUST00000156727] [ENSMUST00000221129] [ENSMUST00000222103]
Predicted Effect probably damaging
Transcript: ENSMUST00000020884
AA Change: L159Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: L159Q

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095820
AA Change: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: L149Q

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 417 3.4e-165 PFAM
Predicted Effect silent
Transcript: ENSMUST00000140751
SMART Domains Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 133 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153090
SMART Domains Protein: ENSMUSP00000119686
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 134 3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156727
AA Change: L79Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: L79Q

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221129
AA Change: L149Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222103
Coding Region Coverage
Validation Efficiency
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,three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain C subunit isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik C A 15: 8,221,911 T1889K probably damaging Het
4430402I18Rik A T 19: 28,896,132 probably null Het
4932438A13Rik T A 3: 36,973,260 Y2265* probably null Het
Acan T A 7: 79,084,570 H58Q probably damaging Het
Cd40lg A G X: 57,219,788 N132D probably benign Het
Cemip G T 7: 83,948,622 T1060K probably benign Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Ces5a A T 8: 93,519,578 S328T probably benign Het
Cfap70 A G 14: 20,420,687 C497R probably benign Het
Cndp2 T C 18: 84,668,607 K430R probably benign Het
Crlf3 T C 11: 80,060,146 D126G probably benign Het
Cxcr1 A T 1: 74,192,275 L196Q probably damaging Het
E330013P04Rik A G 19: 60,161,897 noncoding transcript Het
Erbb2 C T 11: 98,434,009 H810Y probably benign Het
Fam57a T C 11: 76,207,225 probably null Het
Fmn1 C A 2: 113,444,368 probably benign Het
Fpr3 A G 17: 17,971,063 T199A possibly damaging Het
Gcsh A G 8: 116,983,949 probably benign Het
Gm10073 T A 8: 106,573,269 I28F probably benign Het
Gucy1a2 C A 9: 3,759,561 Q456K probably damaging Het
Hgs C A 11: 120,478,348 P317T probably damaging Het
Inmt C A 6: 55,171,228 V139F probably damaging Het
Kcnma1 C A 14: 23,501,143 M460I possibly damaging Het
Map9 A T 3: 82,378,965 N359I probably damaging Het
Mavs T C 2: 131,245,343 S254P probably benign Het
Mcts1 T A X: 38,611,759 probably benign Het
Mecp2 C A X: 74,035,841 R344L possibly damaging Het
Olfr1006 T C 2: 85,674,357 T265A probably benign Het
Olfr1427 A G 19: 12,099,636 M1T probably null Het
Olfr1469 G T 19: 13,410,750 M60I probably damaging Het
Olfr392 T G 11: 73,814,786 T99P probably damaging Het
Olfr957 T C 9: 39,511,046 I225V possibly damaging Het
Olfr969 T G 9: 39,795,378 M1R probably null Het
Rasgrp1 T C 2: 117,288,663 I498V probably damaging Het
Rbbp6 T A 7: 122,985,675 S185T possibly damaging Het
Rd3 A T 1: 191,985,322 H251L possibly damaging Het
Rnf180 T A 13: 105,250,356 D148V probably damaging Het
Rnf43 C A 11: 87,664,716 A34E probably damaging Het
Rslcan18 A G 13: 67,102,108 V21A probably benign Het
Sept9 T C 11: 117,352,643 V128A probably damaging Het
Slc36a1 A G 11: 55,219,656 H103R probably benign Het
Ssh2 A G 11: 77,449,906 D628G probably damaging Het
Tmem119 A G 5: 113,795,485 F85S probably damaging Het
Tpp1 A T 7: 105,747,729 I398N probably benign Het
Ttc3 T C 16: 94,390,207 Y203H probably benign Het
Vars G T 17: 35,013,873 V898L probably benign Het
Vmn1r85 A C 7: 13,085,154 V21G probably damaging Het
Zfp521 T C 18: 13,938,988 H65R possibly damaging Het
Other mutations in Atp6v1c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Atp6v1c2 APN 12 17308293 missense probably damaging 1.00
IGL02121:Atp6v1c2 APN 12 17291440 missense possibly damaging 0.65
IGL02990:Atp6v1c2 APN 12 17294740 missense probably damaging 1.00
IGL03243:Atp6v1c2 APN 12 17289121 missense probably benign 0.07
R0077:Atp6v1c2 UTSW 12 17321612 missense probably damaging 1.00
R0239:Atp6v1c2 UTSW 12 17294675 critical splice donor site probably null
R0239:Atp6v1c2 UTSW 12 17294675 critical splice donor site probably null
R0358:Atp6v1c2 UTSW 12 17284960 splice site probably benign
R0373:Atp6v1c2 UTSW 12 17288168 missense probably damaging 1.00
R0536:Atp6v1c2 UTSW 12 17307508 splice site probably null
R1164:Atp6v1c2 UTSW 12 17308316 missense probably damaging 1.00
R1400:Atp6v1c2 UTSW 12 17289130 missense probably benign 0.13
R2133:Atp6v1c2 UTSW 12 17321611 missense probably benign 0.03
R4695:Atp6v1c2 UTSW 12 17301207 missense probably benign 0.02
R4825:Atp6v1c2 UTSW 12 17289060 missense probably benign 0.02
R5215:Atp6v1c2 UTSW 12 17291658 missense probably benign 0.08
R6034:Atp6v1c2 UTSW 12 17307500 missense possibly damaging 0.79
R6034:Atp6v1c2 UTSW 12 17307500 missense possibly damaging 0.79
R6196:Atp6v1c2 UTSW 12 17301186 nonsense probably null
R7059:Atp6v1c2 UTSW 12 17289004 nonsense probably null
R7505:Atp6v1c2 UTSW 12 17297723 splice site probably null
R7559:Atp6v1c2 UTSW 12 17301214 missense probably benign 0.40
Posted On2013-12-09