Incidental Mutation 'R1164:Atp6v1c2'
ID 100844
Institutional Source Beutler Lab
Gene Symbol Atp6v1c2
Ensembl Gene ENSMUSG00000020566
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C2
Synonyms 1110038G14Rik
MMRRC Submission 039237-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R1164 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 17334722-17375700 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17358317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 10 (E10G)
Ref Sequence ENSEMBL: ENSMUSP00000117139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000095820] [ENSMUST00000127185] [ENSMUST00000140751] [ENSMUST00000143131] [ENSMUST00000153090] [ENSMUST00000156727] [ENSMUST00000221129] [ENSMUST00000222103]
AlphaFold Q99L60
Predicted Effect probably damaging
Transcript: ENSMUST00000020884
AA Change: E80G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566
AA Change: E80G

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000095820
AA Change: E80G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093500
Gene: ENSMUSG00000020566
AA Change: E80G

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 417 3.4e-165 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127185
AA Change: E59G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118635
Gene: ENSMUSG00000020566
AA Change: E59G

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 63 1.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140751
AA Change: E80G

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566
AA Change: E80G

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 damaging
Transcript: ENSMUST00000153090
AA Change: E80G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000119686
Gene: ENSMUSG00000020566
AA Change: E80G

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 134 3e-51 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156727
AA Change: E10G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566
AA Change: E10G

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221129
AA Change: E80G

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000222103
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,305 (GRCm39) M1055K probably damaging Het
Adprh A T 16: 38,270,702 (GRCm39) D34E probably benign Het
Aldh1a1 A T 19: 20,595,310 (GRCm39) M80L probably benign Het
Arap2 T A 5: 62,840,820 (GRCm39) D682V probably damaging Het
Atp4a T A 7: 30,417,117 (GRCm39) L500Q probably benign Het
B4galt2 G A 4: 117,734,141 (GRCm39) R299W possibly damaging Het
Bltp3a T C 17: 28,114,354 (GRCm39) probably null Het
Brinp1 A C 4: 68,716,928 (GRCm39) S307A probably benign Het
Cacna2d1 G A 5: 16,566,874 (GRCm39) probably null Het
Ccdc3 T C 2: 5,146,077 (GRCm39) V137A possibly damaging Het
Ccnb1ip1 T C 14: 51,029,594 (GRCm39) K156R possibly damaging Het
Cfap77 A T 2: 28,852,700 (GRCm39) W191R probably damaging Het
Chga A G 12: 102,529,304 (GRCm39) E427G probably damaging Het
Chrnd A T 1: 87,120,267 (GRCm39) Y32F probably benign Het
Cks1b C A 3: 89,323,249 (GRCm39) probably benign Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dip2a C A 10: 76,112,231 (GRCm39) R1098L possibly damaging Het
Dmbx1 T A 4: 115,775,455 (GRCm39) H275L probably damaging Het
Dmrt2 A G 19: 25,655,357 (GRCm39) M319V possibly damaging Het
Dock8 A G 19: 25,067,391 (GRCm39) Y345C probably benign Het
Dpp6 A G 5: 27,926,103 (GRCm39) T668A probably benign Het
Eef1d A G 15: 75,774,526 (GRCm39) probably null Het
Epb41l3 A G 17: 69,581,762 (GRCm39) T568A possibly damaging Het
Erc2 A G 14: 28,024,929 (GRCm39) R603G probably damaging Het
Fam83d T C 2: 158,625,170 (GRCm39) S254P probably damaging Het
Fcgr4 A T 1: 170,856,739 (GRCm39) H202L possibly damaging Het
Gm4922 C T 10: 18,659,469 (GRCm39) A418T possibly damaging Het
Kmo A G 1: 175,486,125 (GRCm39) H416R probably benign Het
Lao1 A G 4: 118,822,602 (GRCm39) N174S probably benign Het
Lrwd1 A T 5: 136,159,844 (GRCm39) H406Q probably benign Het
Magoh A G 4: 107,744,459 (GRCm39) I143V probably benign Het
Mpz A G 1: 170,986,008 (GRCm39) H49R possibly damaging Het
Nav1 T C 1: 135,400,148 (GRCm39) N474S probably benign Het
Ndufb10 T G 17: 24,941,757 (GRCm39) E68D probably benign Het
Obscn T C 11: 58,926,913 (GRCm39) D5534G possibly damaging Het
Or13c7d T C 4: 43,770,991 (GRCm39) T7A probably benign Het
Or14j5 T A 17: 38,161,575 (GRCm39) F31I probably damaging Het
Or1j16 A T 2: 36,530,132 (GRCm39) Y27F probably benign Het
Or4d10 A T 19: 12,051,605 (GRCm39) Y130* probably null Het
Or52l1 A T 7: 104,830,040 (GRCm39) F160Y probably benign Het
Or8k30 C A 2: 86,339,028 (GRCm39) T75K probably damaging Het
Padi1 A T 4: 140,559,640 (GRCm39) V79E possibly damaging Het
Pdha2 A G 3: 140,917,260 (GRCm39) Y83H probably damaging Het
Phpt1 A G 2: 25,464,727 (GRCm39) I42T probably damaging Het
Pot1b A C 17: 55,981,085 (GRCm39) S310A probably benign Het
Ptpn13 G A 5: 103,637,639 (GRCm39) V176I probably damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Rere A T 4: 150,619,341 (GRCm39) Q381L unknown Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Scn8a G A 15: 100,938,043 (GRCm39) C1804Y probably benign Het
Sema3c G A 5: 17,883,312 (GRCm39) D307N probably benign Het
Siah2 T C 3: 58,583,737 (GRCm39) E183G probably benign Het
Smarca5 G A 8: 81,437,260 (GRCm39) L699F probably damaging Het
Smo T A 6: 29,754,718 (GRCm39) S263T probably benign Het
Sox2 A G 3: 34,704,848 (GRCm39) E95G probably damaging Het
T T C 17: 8,658,771 (GRCm39) S171P probably benign Het
Tmc7 G T 7: 118,141,247 (GRCm39) A628D probably benign Het
Tmem45a2 A G 16: 56,869,789 (GRCm39) S52P probably damaging Het
Tubb3 C T 8: 124,148,186 (GRCm39) A373V probably damaging Het
Upp2 A G 2: 58,653,716 (GRCm39) Y69C probably damaging Het
Utp4 A G 8: 107,627,476 (GRCm39) probably null Het
Vmn1r59 T A 7: 5,457,410 (GRCm39) M117L probably benign Het
Xkr8 T C 4: 132,459,722 (GRCm39) S19G probably benign Het
Zbed6 G A 1: 133,586,941 (GRCm39) T132I probably damaging Het
Zbtb24 T C 10: 41,340,523 (GRCm39) Y518H probably damaging Het
Zfp324 T C 7: 12,705,551 (GRCm39) I580T probably benign Het
Zfp995 G A 17: 22,098,960 (GRCm39) H425Y 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
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
Predicted Primers
Posted On 2014-01-15