Incidental Mutation 'R2094:Atp6v1g2'
ID 232000
Institutional Source Beutler Lab
Gene Symbol Atp6v1g2
Ensembl Gene ENSMUSG00000024403
Gene Name ATPase, H+ transporting, lysosomal V1 subunit G2
Synonyms VAG2, lysosomal 13kDa, NG38, 1500002D01Rik, Atp6g2
MMRRC Submission 040098-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2094 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 35453910-35457743 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35455785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 16 (K16E)
Ref Sequence ENSEMBL: ENSMUSP00000069482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048994] [ENSMUST00000068056] [ENSMUST00000068261] [ENSMUST00000118384] [ENSMUST00000130992] [ENSMUST00000174757]
AlphaFold Q9WTT4
Predicted Effect probably benign
Transcript: ENSMUST00000048994
SMART Domains Protein: ENSMUSP00000035452
Gene: ENSMUSG00000042419

DomainStartEndE-ValueType
low complexity region 30 40 N/A INTRINSIC
ANK 65 94 1.01e2 SMART
ANK 98 131 3.81e2 SMART
low complexity region 153 165 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068056
SMART Domains Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000068261
AA Change: K16E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069482
Gene: ENSMUSG00000024403
AA Change: K16E

DomainStartEndE-ValueType
Pfam:V-ATPase_G 3 107 3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118384
SMART Domains Protein: ENSMUSP00000113511
Gene: ENSMUSG00000024403

DomainStartEndE-ValueType
Pfam:V-ATPase_G 1 82 1.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130992
SMART Domains Protein: ENSMUSP00000134733
Gene: ENSMUSG00000024403

DomainStartEndE-ValueType
Pfam:V-ATPase_G 1 66 8.1e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146711
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143289
Predicted Effect probably benign
Transcript: ENSMUST00000174757
SMART Domains Protein: ENSMUSP00000133705
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 1 147 2.85e-17 SMART
Meta Mutation Damage Score 0.4406 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (56/56)
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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of three V1 domain G subunit proteins. This gene had previous gene symbols of ATP6G and ATP6G2. Alternatively spliced transcript variants encoding different isoforms have been described. Read-through transcription also exists between this gene and the downstream DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are produced in the expected ratio. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 192,857,154 (GRCm39) I169V probably benign Het
Arrdc5 A G 17: 56,604,856 (GRCm39) S144P probably benign Het
Astn1 A G 1: 158,495,179 (GRCm39) M92V probably benign Het
Atg5 A G 10: 44,195,544 (GRCm39) I189M probably damaging Het
Atmin A G 8: 117,684,277 (GRCm39) T646A probably damaging Het
Atp1a2 G A 1: 172,115,000 (GRCm39) R262W probably damaging Het
Bex6 G A 16: 32,005,278 (GRCm39) E29K possibly damaging Het
Casd1 A G 6: 4,608,705 (GRCm39) Y101C probably damaging Het
Ccdc168 A C 1: 44,098,890 (GRCm39) I736S probably benign Het
Cdx1 T C 18: 61,168,984 (GRCm39) D70G possibly damaging Het
Cebpz T C 17: 79,242,983 (GRCm39) T224A probably benign Het
Cep170b T C 12: 112,702,164 (GRCm39) V319A possibly damaging Het
Chrna2 C T 14: 66,386,912 (GRCm39) R353W possibly damaging Het
Chst5 A T 8: 112,617,176 (GRCm39) V148E probably benign Het
Clhc1 T A 11: 29,507,771 (GRCm39) W162R probably benign Het
Csmd1 T A 8: 16,129,992 (GRCm39) Q1710L probably damaging Het
Ddb1 A C 19: 10,590,300 (GRCm39) M276L probably benign Het
Dot1l C T 10: 80,621,712 (GRCm39) R455C probably damaging Het
Dync2h1 A G 9: 7,148,735 (GRCm39) V903A probably benign Het
Eno1b T C 18: 48,180,542 (GRCm39) V240A possibly damaging Het
Erich1 T G 8: 14,140,527 (GRCm39) probably benign Het
Ermp1 A C 19: 29,617,328 (GRCm39) S227A probably benign Het
Etv1 C A 12: 38,885,115 (GRCm39) P143Q probably null Het
Gimap8 A T 6: 48,627,502 (GRCm39) I159F probably benign Het
Gpr4 G A 7: 18,956,503 (GRCm39) V142M possibly damaging Het
Gucy1a1 C T 3: 82,020,639 (GRCm39) C86Y probably benign Het
Ifngr2 T G 16: 91,358,667 (GRCm39) probably null Het
Insrr A T 3: 87,710,488 (GRCm39) N398I probably damaging Het
Iws1 A G 18: 32,217,719 (GRCm39) E441G probably damaging Het
Larp7-ps A G 4: 92,079,893 (GRCm39) S32P probably damaging Het
Megf10 A T 18: 57,414,785 (GRCm39) K732* probably null Het
Mprip T A 11: 59,640,334 (GRCm39) probably benign Het
Mrgprb8 T C 7: 48,038,953 (GRCm39) V208A probably benign Het
Msc G C 1: 14,825,908 (GRCm39) P22R probably benign Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Or4k15b A T 14: 50,272,171 (GRCm39) S230T probably damaging Het
Oxsr1 A C 9: 119,123,560 (GRCm39) H71Q probably benign Het
Pkp2 T A 16: 16,064,831 (GRCm39) W452R probably damaging Het
Prrc2b C T 2: 32,072,582 (GRCm39) T20I probably damaging Het
Rasgrp3 T C 17: 75,810,136 (GRCm39) S279P probably damaging Het
Rtl1 T A 12: 109,557,831 (GRCm39) D1336V unknown Het
Serpina3m G T 12: 104,355,529 (GRCm39) K65N probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Slc10a1 A G 12: 81,002,822 (GRCm39) V272A possibly damaging Het
Slc25a29 A T 12: 108,793,358 (GRCm39) N73K probably damaging Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Srrm2 T C 17: 24,031,403 (GRCm39) probably benign Het
Stk11ip A G 1: 75,502,165 (GRCm39) probably benign Het
Tcerg1 A G 18: 42,697,210 (GRCm39) K767R possibly damaging Het
Tmem82 T C 4: 141,343,598 (GRCm39) K224R probably benign Het
Tmprss11g A G 5: 86,647,415 (GRCm39) L41S probably damaging Het
Trim42 T C 9: 97,248,150 (GRCm39) N182S probably benign Het
Ttn T C 2: 76,660,432 (GRCm39) T7430A probably benign Het
Wwp1 T C 4: 19,650,390 (GRCm39) T259A probably benign Het
Other mutations in Atp6v1g2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2360:Atp6v1g2 UTSW 17 35,456,638 (GRCm39) missense probably damaging 1.00
R2497:Atp6v1g2 UTSW 17 35,455,762 (GRCm39) missense probably damaging 1.00
R9612:Atp6v1g2 UTSW 17 35,456,733 (GRCm39) missense probably benign 0.00
R9627:Atp6v1g2 UTSW 17 35,454,956 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGTGAGGATGACAGACACCC -3'
(R):5'- GACTGTAAAACCCACCCGTTTC -3'

Sequencing Primer
(F):5'- CTGAGTGAAAACGGGAGCGC -3'
(R):5'- GTAAAACCCACCCGTTTCTTCTAC -3'
Posted On 2014-09-18