Incidental Mutation 'IGL02121:Atp6v1c2'
ID 280589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1c2
Ensembl Gene ENSMUSG00000020566
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C2
Synonyms 1110038G14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # IGL02121
Quality Score
Status
Chromosome 12
Chromosomal Location 17334722-17375700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 17341441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 272 (K272Q)
Ref Sequence ENSEMBL: ENSMUSP00000152515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000156727] [ENSMUST00000221129]
AlphaFold Q99L60
Predicted Effect possibly damaging
Transcript: ENSMUST00000020884
AA Change: K282Q

PolyPhen 2 Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: K282Q

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000095820
AA Change: K272Q

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: K272Q

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

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 133 4.1e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156727
AA Change: K202Q

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: K202Q

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000221129
AA Change: K272Q

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,159,038 (GRCm39) V122D unknown Het
4930579F01Rik T G 3: 137,870,134 (GRCm39) Y199S possibly damaging Het
Abca6 T A 11: 110,073,750 (GRCm39) I1434F probably benign Het
Acsm1 T C 7: 119,257,635 (GRCm39) V467A possibly damaging Het
Alg3 T C 16: 20,425,285 (GRCm39) T260A possibly damaging Het
Aoc1 A G 6: 48,883,254 (GRCm39) probably null Het
Ap5b1 C T 19: 5,620,815 (GRCm39) T745I possibly damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cert1 T G 13: 96,735,982 (GRCm39) Y181D probably benign Het
Clcn7 C T 17: 25,372,058 (GRCm39) A426V possibly damaging Het
Clec14a T C 12: 58,315,223 (GRCm39) E133G probably damaging Het
Dst T A 1: 34,267,738 (GRCm39) V2720E probably damaging Het
Efr3a C T 15: 65,742,999 (GRCm39) probably benign Het
Fam83g T C 11: 61,575,609 (GRCm39) S84P probably benign Het
Gm7251 T C 13: 49,959,382 (GRCm39) noncoding transcript Het
Gnptab T G 10: 88,265,323 (GRCm39) S312A possibly damaging Het
Grap2 C A 15: 80,532,076 (GRCm39) S230R possibly damaging Het
Grm6 T A 11: 50,750,483 (GRCm39) C549S probably damaging Het
Gtf3c1 A T 7: 125,245,903 (GRCm39) L1504* probably null Het
Iars1 A G 13: 49,878,172 (GRCm39) M899V probably benign Het
Il1rl1 T A 1: 40,481,463 (GRCm39) probably benign Het
Kcna4 T C 2: 107,126,963 (GRCm39) Y566H possibly damaging Het
Kcnn2 T C 18: 45,694,340 (GRCm39) I175T probably damaging Het
Kcnt1 C T 2: 25,791,877 (GRCm39) T609I probably damaging Het
Kif3b A G 2: 153,159,194 (GRCm39) R332G probably damaging Het
Mansc1 T C 6: 134,598,800 (GRCm39) D39G probably damaging Het
Med12 T C X: 100,331,948 (GRCm39) probably benign Het
Mmp1b G T 9: 7,384,935 (GRCm39) T238K probably benign Het
Nav3 A G 10: 109,594,897 (GRCm39) S1435P probably damaging Het
Npc1l1 A G 11: 6,178,157 (GRCm39) S418P probably benign Het
Or14j1 T C 17: 38,146,832 (GRCm39) V314A probably benign Het
Or2ab1 T C 11: 58,488,408 (GRCm39) V62A possibly damaging Het
Or3a1b A G 11: 74,012,113 (GRCm39) probably benign Het
Or52a24 A G 7: 103,381,676 (GRCm39) Y181C probably damaging Het
Or52h1 A C 7: 103,829,432 (GRCm39) M61R probably damaging Het
Or6ae1 G T 7: 139,742,607 (GRCm39) D85E probably benign Het
Or8b3b T C 9: 38,584,711 (GRCm39) T23A probably damaging Het
Otoa A G 7: 120,721,247 (GRCm39) T421A probably benign Het
Otulin G A 15: 27,608,823 (GRCm39) A42V probably damaging Het
Pcdhb1 T A 18: 37,398,838 (GRCm39) V263E probably benign Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Phip A T 9: 82,775,423 (GRCm39) V1053D probably damaging Het
Pkd1 G A 17: 24,794,901 (GRCm39) R2196H probably benign Het
Plin4 T A 17: 56,409,131 (GRCm39) Q1363L probably damaging Het
Pp2d1 C A 17: 53,814,949 (GRCm39) V592L probably damaging Het
Pramel51 T C 12: 88,145,242 (GRCm39) D28G possibly damaging Het
Prkdc T G 16: 15,535,048 (GRCm39) M1649R probably benign Het
Ptk2b T C 14: 66,450,931 (GRCm39) K12E probably benign Het
Rars2 G A 4: 34,657,219 (GRCm39) V522I probably damaging Het
Rpgrip1 T A 14: 52,384,831 (GRCm39) N646K possibly damaging Het
Sars2 A G 7: 28,451,950 (GRCm39) probably benign Het
Sgo2b T C 8: 64,384,316 (GRCm39) T227A possibly damaging Het
Smc1b T C 15: 84,982,186 (GRCm39) T703A probably benign Het
Stk32a G T 18: 43,446,572 (GRCm39) D341Y probably benign Het
Thap11 T C 8: 106,582,546 (GRCm39) V185A possibly damaging Het
Ttll10 C A 4: 156,132,890 (GRCm39) V65F probably benign Het
Ube2q1 T A 3: 89,687,769 (GRCm39) N111K possibly damaging Het
Upf2 C A 2: 6,031,134 (GRCm39) probably benign Het
Utp25 A T 1: 192,800,586 (GRCm39) D411E probably benign Het
Vasp T A 7: 18,991,637 (GRCm39) probably benign Het
Vmn2r104 C T 17: 20,262,056 (GRCm39) W358* probably null Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Wdfy3 C T 5: 102,046,376 (GRCm39) G1826R possibly damaging Het
Wdr7 T A 18: 63,910,616 (GRCm39) Y669* probably null Het
Wdr72 T A 9: 74,189,011 (GRCm39) probably benign Het
Other mutations in Atp6v1c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Atp6v1c2 APN 12 17,358,294 (GRCm39) missense probably damaging 1.00
IGL01520:Atp6v1c2 APN 12 17,347,754 (GRCm39) missense probably damaging 1.00
IGL02990:Atp6v1c2 APN 12 17,344,741 (GRCm39) missense probably damaging 1.00
IGL03243:Atp6v1c2 APN 12 17,339,122 (GRCm39) missense probably benign 0.07
R0077:Atp6v1c2 UTSW 12 17,371,613 (GRCm39) missense probably damaging 1.00
R0239:Atp6v1c2 UTSW 12 17,344,676 (GRCm39) critical splice donor site probably null
R0239:Atp6v1c2 UTSW 12 17,344,676 (GRCm39) critical splice donor site probably null
R0358:Atp6v1c2 UTSW 12 17,334,961 (GRCm39) splice site probably benign
R0373:Atp6v1c2 UTSW 12 17,338,169 (GRCm39) missense probably damaging 1.00
R0536:Atp6v1c2 UTSW 12 17,357,509 (GRCm39) splice site probably null
R1164:Atp6v1c2 UTSW 12 17,358,317 (GRCm39) missense probably damaging 1.00
R1400:Atp6v1c2 UTSW 12 17,339,131 (GRCm39) missense probably benign 0.13
R2133:Atp6v1c2 UTSW 12 17,371,612 (GRCm39) missense probably benign 0.03
R4695:Atp6v1c2 UTSW 12 17,351,208 (GRCm39) missense probably benign 0.02
R4825:Atp6v1c2 UTSW 12 17,339,061 (GRCm39) missense probably benign 0.02
R5215:Atp6v1c2 UTSW 12 17,341,659 (GRCm39) missense probably benign 0.08
R6034:Atp6v1c2 UTSW 12 17,357,501 (GRCm39) missense possibly damaging 0.79
R6034:Atp6v1c2 UTSW 12 17,357,501 (GRCm39) missense possibly damaging 0.79
R6196:Atp6v1c2 UTSW 12 17,351,187 (GRCm39) nonsense probably null
R7059:Atp6v1c2 UTSW 12 17,339,005 (GRCm39) nonsense probably null
R7505:Atp6v1c2 UTSW 12 17,347,724 (GRCm39) splice site probably null
R7559:Atp6v1c2 UTSW 12 17,351,215 (GRCm39) missense probably benign 0.40
R7980:Atp6v1c2 UTSW 12 17,371,613 (GRCm39) missense probably damaging 1.00
R8290:Atp6v1c2 UTSW 12 17,338,153 (GRCm39) missense possibly damaging 0.63
R8853:Atp6v1c2 UTSW 12 17,351,148 (GRCm39) missense possibly damaging 0.58
R8990:Atp6v1c2 UTSW 12 17,341,647 (GRCm39) missense probably benign
Posted On 2015-04-16