Incidental Mutation 'R0358:Atp6v1c2'
ID 29955
Institutional Source Beutler Lab
Gene Symbol Atp6v1c2
Ensembl Gene ENSMUSG00000020566
Gene Name ATPase, H+ transporting, lysosomal V1 subunit C2
Synonyms 1110038G14Rik
MMRRC Submission 038564-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R0358 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 17334722-17375700 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 17334961 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020884] [ENSMUST00000057288] [ENSMUST00000095820] [ENSMUST00000140751] [ENSMUST00000156727] [ENSMUST00000221129]
AlphaFold Q99L60
Predicted Effect probably benign
Transcript: ENSMUST00000020884
SMART Domains Protein: ENSMUSP00000020884
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 427 3.9e-156 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057288
SMART Domains Protein: ENSMUSP00000052912
Gene: ENSMUSG00000020571

DomainStartEndE-ValueType
Pfam:Thioredoxin 31 134 5.6e-32 PFAM
low complexity region 143 159 N/A INTRINSIC
Pfam:Thioredoxin 166 272 7.4e-33 PFAM
low complexity region 427 445 N/A INTRINSIC
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: ENSMUST00000140751
SMART Domains Protein: ENSMUSP00000123415
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 4 133 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156727
SMART Domains Protein: ENSMUSP00000117139
Gene: ENSMUSG00000020566

DomainStartEndE-ValueType
Pfam:V-ATPase_C 1 347 2.5e-135 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162936
Predicted Effect probably benign
Transcript: ENSMUST00000221129
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.5%
Validation Efficiency 100% (64/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G A 17: 79,935,585 (GRCm39) probably benign Het
Abca16 A T 7: 120,143,939 (GRCm39) K1651N probably benign Het
Abcb1b T C 5: 8,871,423 (GRCm39) S326P probably benign Het
Ache A G 5: 137,288,635 (GRCm39) T114A probably benign Het
Akap3 T A 6: 126,843,775 (GRCm39) V798D probably damaging Het
Ankle1 A G 8: 71,860,189 (GRCm39) T256A probably damaging Het
Aqp4 T C 18: 15,531,302 (GRCm39) N153S probably benign Het
Arhgap23 G A 11: 97,354,414 (GRCm39) V265M probably damaging Het
Arhgef25 A T 10: 127,020,322 (GRCm39) M326K probably damaging Het
Cars1 A T 7: 143,142,219 (GRCm39) probably benign Het
Cep83 A T 10: 94,555,593 (GRCm39) M96L probably benign Het
Cfap46 A G 7: 139,231,449 (GRCm39) probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cul7 G A 17: 46,974,670 (GRCm39) probably null Het
Dhrs2 G A 14: 55,473,574 (GRCm39) V78M probably damaging Het
Dhx38 A T 8: 110,279,094 (GRCm39) D1051E probably benign Het
Eftud2 A G 11: 102,755,627 (GRCm39) probably benign Het
Egln3 T C 12: 54,250,082 (GRCm39) E89G possibly damaging Het
Eif2ak4 A G 2: 118,294,410 (GRCm39) probably null Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fsip2 A T 2: 82,813,677 (GRCm39) N3332I possibly damaging Het
Gbp2b A T 3: 142,312,550 (GRCm39) E311V probably damaging Het
Gcnt2 G T 13: 41,014,329 (GRCm39) A167S probably damaging Het
Gm9797 A T 10: 11,485,088 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,215 (GRCm39) probably null Het
Gpr22 T C 12: 31,759,981 (GRCm39) N47S probably benign Het
Il18rap A T 1: 40,588,202 (GRCm39) H600L possibly damaging Het
Larp7 A G 3: 127,340,737 (GRCm39) probably null Het
Mep1a A G 17: 43,789,841 (GRCm39) Y490H possibly damaging Het
Mrgprh T A 17: 13,096,237 (GRCm39) V159D probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nrbp1 T A 5: 31,402,231 (GRCm39) I64N probably damaging Het
Nup214 G A 2: 31,894,312 (GRCm39) probably null Het
Or10d1b A G 9: 39,613,297 (GRCm39) I256T possibly damaging Het
Or13a21 G T 7: 139,998,856 (GRCm39) L277M probably damaging Het
Or2o1 T A 11: 49,051,071 (GRCm39) C77S probably benign Het
Or4k15b A T 14: 50,272,743 (GRCm39) L39Q probably damaging Het
Pef1 A G 4: 130,021,180 (GRCm39) T245A probably damaging Het
Phrf1 A G 7: 140,838,217 (GRCm39) probably benign Het
Ppig A G 2: 69,573,942 (GRCm39) probably benign Het
Ppp1r8 G T 4: 132,562,039 (GRCm39) F60L probably damaging Het
Psmd11 G A 11: 80,353,510 (GRCm39) probably benign Het
Ptk6 G T 2: 180,840,315 (GRCm39) H230Q probably benign Het
Ptprd T C 4: 75,863,226 (GRCm39) Y1496C probably damaging Het
Rhbdl3 G T 11: 80,244,457 (GRCm39) W388L probably damaging Het
Rnf130 T A 11: 49,962,109 (GRCm39) M185K probably benign Het
S100a13 A T 3: 90,423,299 (GRCm39) I97F probably damaging Het
Slc22a16 T G 10: 40,463,488 (GRCm39) probably null Het
Tcte1 A T 17: 45,846,211 (GRCm39) T272S probably benign Het
Terf1 T C 1: 15,876,062 (GRCm39) V54A possibly damaging Het
Tmem63a T A 1: 180,783,988 (GRCm39) N189K probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Trpv4 A G 5: 114,768,493 (GRCm39) F525S probably damaging Het
Ttll7 A G 3: 146,649,871 (GRCm39) T634A probably benign Het
Tut7 T C 13: 59,929,918 (GRCm39) D47G probably damaging Het
Ush2a T G 1: 188,269,977 (GRCm39) N1741K possibly damaging Het
Wdr87-ps A T 7: 29,231,636 (GRCm39) noncoding transcript Het
Zfp451 T A 1: 33,816,810 (GRCm39) H163L 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
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
Predicted Primers PCR Primer
(F):5'- AAAACCCCAGTGGGTTGCCAAG -3'
(R):5'- TGCAGCAAGCATACTGGATGTAGG -3'

Sequencing Primer
(F):5'- GACTCAGGACTGAGCACTTTATTG -3'
(R):5'- CAAGCATACTGGATGTAGGTATCAC -3'
Posted On 2013-04-24