Incidental Mutation 'IGL01012:Atp6v0e2'
ID 53612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0e2
Ensembl Gene ENSMUSG00000039347
Gene Name ATPase, H+ transporting, lysosomal V0 subunit E2
Synonyms 0610006O14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01012
Quality Score
Status
Chromosome 6
Chromosomal Location 48514549-48518735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48514749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 22 (I22T)
Ref Sequence ENSEMBL: ENSMUSP00000145198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040361] [ENSMUST00000203011]
AlphaFold Q91XE7
Predicted Effect probably benign
Transcript: ENSMUST00000040361
AA Change: I22T

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044110
Gene: ENSMUSG00000039347
AA Change: I22T

DomainStartEndE-ValueType
Pfam:ATP_synt_H 9 70 1.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180937
Predicted Effect probably damaging
Transcript: ENSMUST00000203011
AA Change: I22T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145198
Gene: ENSMUSG00000039347
AA Change: I22T

DomainStartEndE-ValueType
Pfam:ATP_synt_H 9 52 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204484
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Multisubunit vacuolar-type proton pumps, or H(+)-ATPases, acidify various intracellular compartments, such as vacuoles, clathrin-coated and synaptic vesicles, endosomes, lysosomes, and chromaffin granules. H(+)-ATPases are also found in plasma membranes of specialized cells, where they play roles in urinary acidification, bone resorption, and sperm maturation. Multiple subunits form H(+)-ATPases, with proteins of the V1 class hydrolyzing ATP for energy to transport H+, and proteins of the V0 class forming an integral membrane domain through which H+ is transported. ATP6V0E2 encodes an isoform of the H(+)-ATPase V0 e subunit, an essential proton pump component (Blake-Palmer et al., 2007 [PubMed 17350184]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A T 18: 61,972,772 (GRCm39) M249K possibly damaging Het
Adamtsl1 T C 4: 86,260,426 (GRCm39) F879S possibly damaging Het
Afap1l2 T C 19: 56,918,693 (GRCm39) E30G probably damaging Het
Aqp9 A G 9: 71,037,831 (GRCm39) probably benign Het
Arhgap17 A T 7: 122,885,791 (GRCm39) probably benign Het
Arhgef10 T C 8: 15,029,977 (GRCm39) S921P probably damaging Het
AY074887 C T 9: 54,857,963 (GRCm39) probably benign Het
Bcl2l15 T A 3: 103,740,730 (GRCm39) D65E probably damaging Het
C2cd6 A T 1: 59,036,507 (GRCm39) probably benign Het
Ccdc138 G A 10: 58,376,737 (GRCm39) probably null Het
Ccdc7b A G 8: 129,904,838 (GRCm39) T159A possibly damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cd300ld2 T A 11: 114,903,123 (GRCm39) I241F probably benign Het
Cep192 T A 18: 67,945,477 (GRCm39) N192K possibly damaging Het
Csmd1 T C 8: 15,967,341 (GRCm39) K3174R probably benign Het
Dpy30 A T 17: 74,614,749 (GRCm39) L65I probably damaging Het
Eci2 A T 13: 35,174,312 (GRCm39) L83* probably null Het
F7 A T 8: 13,083,409 (GRCm39) E183V probably damaging Het
Gabrg1 T C 5: 70,935,512 (GRCm39) K214R probably benign Het
Galr2 A T 11: 116,173,996 (GRCm39) T209S probably damaging Het
Gimap9 T C 6: 48,654,851 (GRCm39) probably null Het
Gip C A 11: 95,916,285 (GRCm39) F28L probably benign Het
Gpd2 A G 2: 57,254,542 (GRCm39) N662S probably benign Het
Grik2 T G 10: 49,149,052 (GRCm39) D511A probably damaging Het
Ift122 T A 6: 115,876,452 (GRCm39) Y563N probably damaging Het
Ipo8 A G 6: 148,690,561 (GRCm39) probably benign Het
Islr T C 9: 58,064,511 (GRCm39) E332G probably damaging Het
Itgb7 G A 15: 102,136,020 (GRCm39) S5L probably benign Het
Itpr2 G A 6: 146,246,659 (GRCm39) R1087W probably damaging Het
Katnal2 C A 18: 77,105,250 (GRCm39) V66F probably damaging Het
Krt81 T C 15: 101,358,900 (GRCm39) D284G probably benign Het
Krtap4-8 T A 11: 99,670,831 (GRCm39) probably benign Het
Map1s C A 8: 71,366,554 (GRCm39) N486K probably benign Het
Med13l G A 5: 118,872,093 (GRCm39) D842N probably damaging Het
Mef2c T A 13: 83,803,714 (GRCm39) M306K probably damaging Het
Myb C T 10: 21,022,159 (GRCm39) V377I probably benign Het
Myocd C T 11: 65,075,451 (GRCm39) G558R possibly damaging Het
Nars1 G T 18: 64,638,039 (GRCm39) A305E probably damaging Het
Neb A T 2: 52,086,373 (GRCm39) N5233K probably benign Het
Nipsnap2 T C 5: 129,823,503 (GRCm39) I181T possibly damaging Het
Or10d4b A T 9: 39,534,661 (GRCm39) M81L probably benign Het
Or1s2 T C 19: 13,758,937 (GRCm39) probably benign Het
P3h2 A C 16: 25,805,998 (GRCm39) C282G probably damaging Het
Pcgf5 T A 19: 36,420,268 (GRCm39) C167S probably damaging Het
Pck2 T C 14: 55,781,526 (GRCm39) probably benign Het
Peli2 C T 14: 48,490,187 (GRCm39) R169* probably null Het
Pramel16 T A 4: 143,676,784 (GRCm39) probably benign Het
Psme3ip1 G A 8: 95,313,990 (GRCm39) R104W probably damaging Het
Ralgapa2 T A 2: 146,263,659 (GRCm39) Q686L possibly damaging Het
Scap C A 9: 110,191,488 (GRCm39) P50H probably damaging Het
Sh3rf2 T A 18: 42,187,257 (GRCm39) D125E possibly damaging Het
Slc25a38 T C 9: 119,945,560 (GRCm39) probably benign Het
Slc35a5 A G 16: 44,964,195 (GRCm39) V346A probably damaging Het
Smad4 T A 18: 73,808,880 (GRCm39) N129I probably damaging Het
Sod2 C T 17: 13,232,464 (GRCm39) A163V possibly damaging Het
Spred3 T A 7: 28,860,948 (GRCm39) probably benign Het
Stag1 C A 9: 100,737,912 (GRCm39) A423E possibly damaging Het
Stk17b A T 1: 53,800,196 (GRCm39) S261T probably benign Het
Stx3 T C 19: 11,769,152 (GRCm39) K58E probably damaging Het
Timm10b C A 7: 105,290,345 (GRCm39) Y79* probably null Het
Tmem204 T C 17: 25,289,329 (GRCm39) D97G probably damaging Het
Tnfrsf25 T C 4: 152,202,885 (GRCm39) V181A probably benign Het
Trim54 T G 5: 31,294,302 (GRCm39) S313A probably benign Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Vmn2r23 A G 6: 123,706,555 (GRCm39) T462A probably benign Het
Wdr27 T A 17: 15,146,509 (GRCm39) H162L probably damaging Het
Other mutations in Atp6v0e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1341:Atp6v0e2 UTSW 6 48,517,045 (GRCm39) missense probably benign 0.03
R1473:Atp6v0e2 UTSW 6 48,516,198 (GRCm39) missense probably damaging 1.00
R5197:Atp6v0e2 UTSW 6 48,517,051 (GRCm39) missense probably benign 0.28
R7997:Atp6v0e2 UTSW 6 48,514,718 (GRCm39) missense probably benign
R8478:Atp6v0e2 UTSW 6 48,517,031 (GRCm39) missense probably benign 0.06
R9224:Atp6v0e2 UTSW 6 48,516,190 (GRCm39) missense possibly damaging 0.74
Posted On 2013-06-28