Incidental Mutation 'R6034:Atp6v1c2'
ID 480571
Institutional Source Beutler Lab
Gene Symbol Atp6v1c2
Ensembl Gene ENSMUSG00000020566
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C2
Synonyms 1110038G14Rik
MMRRC Submission 044206-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R6034 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 17334722-17375700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 17357501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 95 (G95V)
Ref Sequence ENSEMBL: ENSMUSP00000020884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000127185] [ENSMUST00000140751] [ENSMUST00000143131] [ENSMUST00000153090] [ENSMUST00000221129] [ENSMUST00000222103] [ENSMUST00000156727]
AlphaFold Q99L60
Predicted Effect possibly damaging
Transcript: ENSMUST00000020884
AA Change: G95V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: G95V

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095820
SMART Domains Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 417 3.4e-165 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127185
SMART Domains Protein: ENSMUSP00000118635
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 63 1.1e-23 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 probably benign
Transcript: ENSMUST00000143131
SMART Domains Protein: ENSMUSP00000117993
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 70 5.8e-26 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 benign
Transcript: ENSMUST00000221129
Predicted Effect probably benign
Transcript: ENSMUST00000222103
Predicted Effect probably benign
Transcript: ENSMUST00000156727
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Meta Mutation Damage Score 0.0637 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 96.4%
  • 20x: 87.0%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef4 G T 1: 34,760,984 (GRCm39) G80V unknown Het
Ash1l T C 3: 88,892,326 (GRCm39) Y1402H probably damaging Het
Atad2 A T 15: 57,971,959 (GRCm39) L306Q probably damaging Het
Atp2b4 T A 1: 133,659,645 (GRCm39) probably null Het
Birc6 T A 17: 74,922,278 (GRCm39) V2192E probably damaging Het
Catsperb A G 12: 101,542,091 (GRCm39) E597G probably benign Het
Ccdc40 A G 11: 119,133,898 (GRCm39) M556V possibly damaging Het
Ccin G A 4: 43,985,354 (GRCm39) R587K probably benign Het
Cdipt T G 7: 126,577,497 (GRCm39) V81G probably damaging Het
Cert1 A C 13: 96,746,308 (GRCm39) I236L probably benign Het
Cfh T C 1: 140,090,869 (GRCm39) K40E probably damaging Het
Cps1 T A 1: 67,196,872 (GRCm39) probably null Het
Dnah7c A T 1: 46,496,418 (GRCm39) D101V probably benign Het
Fastkd3 T A 13: 68,731,729 (GRCm39) W17R probably damaging Het
H1f4 A G 13: 23,806,296 (GRCm39) L62P probably damaging Het
H2-Ob T C 17: 34,460,192 (GRCm39) V30A probably damaging Het
Hmgxb3 T A 18: 61,265,594 (GRCm39) H1128L probably damaging Het
Hspbp1 A T 7: 4,680,711 (GRCm39) I255N probably damaging Het
Imp4 A G 1: 34,482,537 (GRCm39) D91G probably damaging Het
Itprid1 T A 6: 55,944,666 (GRCm39) D462E possibly damaging Het
Kcnip4 G T 5: 48,548,283 (GRCm39) R241S possibly damaging Het
Lilra5 T C 7: 4,245,133 (GRCm39) L259P probably benign Het
Lipf T C 19: 33,942,289 (GRCm39) I73T probably benign Het
Lsm7 T C 10: 80,688,742 (GRCm39) probably null Het
Luzp2 T A 7: 54,816,972 (GRCm39) L141M probably damaging Het
Malrd1 T A 2: 15,850,137 (GRCm39) V1252E possibly damaging Het
Map10 T C 8: 126,399,205 (GRCm39) L866P probably damaging Het
Mink1 AAGCAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAGCAG 11: 70,497,866 (GRCm39) probably benign Het
Mpp2 T C 11: 101,952,460 (GRCm39) I355V possibly damaging Het
Mtrf1l T A 10: 5,773,834 (GRCm39) probably benign Het
Myo5c A T 9: 75,163,187 (GRCm39) T339S probably benign Het
Naa15 A G 3: 51,350,242 (GRCm39) D163G probably damaging Het
Oosp2 A G 19: 11,628,879 (GRCm39) F74S probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,702 (GRCm39) Y123F probably damaging Het
Pard3 C G 8: 127,791,077 (GRCm39) probably benign Het
Pcdha1 T A 18: 37,063,651 (GRCm39) I105N probably damaging Het
Pcdhgb8 A G 18: 37,895,601 (GRCm39) T224A possibly damaging Het
Phf12 A G 11: 77,908,895 (GRCm39) N325S probably benign Het
Prom1 T A 5: 44,201,750 (GRCm39) probably null Het
Raet1e A G 10: 22,057,990 (GRCm39) *252W probably null Het
Sap130 T C 18: 31,822,459 (GRCm39) V655A possibly damaging Het
Sec16b A T 1: 157,380,509 (GRCm39) K360I probably damaging Het
Sec23ip C T 7: 128,351,927 (GRCm39) T101I possibly damaging Het
Selenoo A G 15: 88,983,546 (GRCm39) K529R probably benign Het
Slc22a15 A G 3: 101,770,235 (GRCm39) F451L possibly damaging Het
St6gal2 T A 17: 55,789,982 (GRCm39) S339T probably benign Het
Stard13 A T 5: 151,018,965 (GRCm39) probably null Het
Synm A G 7: 67,384,653 (GRCm39) V561A probably damaging Het
Tc2n A T 12: 101,617,460 (GRCm39) probably null Het
Ugt2b36 T A 5: 87,229,377 (GRCm39) D236V probably damaging Het
Vmn1r65 A G 7: 6,011,868 (GRCm39) L122P probably damaging Het
Zc3h14 T C 12: 98,737,632 (GRCm39) S40P probably benign Het
Zc3hav1l C A 6: 38,272,215 (GRCm39) G185C probably damaging Het
Zfp563 G A 17: 33,323,935 (GRCm39) A177T probably damaging 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
IGL02121:Atp6v1c2 APN 12 17,341,441 (GRCm39) missense possibly damaging 0.65
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
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
Predicted Primers
Posted On 2017-06-26