Incidental Mutation 'R1341:Atp6v0e2'
ID 157039
Institutional Source Beutler Lab
Gene Symbol Atp6v0e2
Ensembl Gene ENSMUSG00000039347
Gene Name ATPase, H+ transporting, lysosomal V0 subunit E2
Synonyms 0610006O14Rik
MMRRC Submission 039406-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R1341 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48514549-48518735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48517045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 75 (Y75C)
Ref Sequence ENSEMBL: ENSMUSP00000044110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040361] [ENSMUST00000203011]
AlphaFold Q91XE7
Predicted Effect probably benign
Transcript: ENSMUST00000040361
AA Change: Y75C

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000044110
Gene: ENSMUSG00000039347
AA Change: Y75C

DomainStartEndE-ValueType
Pfam:ATP_synt_H 9 70 1.6e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180937
Predicted Effect probably benign
Transcript: ENSMUST00000203011
SMART Domains Protein: ENSMUSP00000145198
Gene: ENSMUSG00000039347

DomainStartEndE-ValueType
Pfam:ATP_synt_H 9 52 4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204277
Meta Mutation Damage Score 0.6613 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 96% (53/55)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp3a T C 17: 28,096,393 (GRCm39) probably benign Het
Cacna1g A G 11: 94,324,582 (GRCm39) L1190P probably damaging Het
Ccdc190 A G 1: 169,757,586 (GRCm39) D15G probably damaging Het
Cep126 G T 9: 8,099,777 (GRCm39) P919Q possibly damaging Het
Cfhr4 T A 1: 139,660,131 (GRCm39) T665S probably damaging Het
Chchd6 A G 6: 89,361,623 (GRCm39) V260A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cramp1 T C 17: 25,196,514 (GRCm39) K867E probably damaging Het
Dnah6 A T 6: 73,168,602 (GRCm39) N440K probably benign Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Gm17421 A T 12: 113,333,334 (GRCm39) noncoding transcript Het
H2bc13 T C 13: 21,900,280 (GRCm39) K12E probably benign Het
Hdac3 A G 18: 38,087,766 (GRCm39) V36A probably damaging Het
Hoxa13 CCG CCGCG 6: 52,237,618 (GRCm39) probably null Het
Itga10 G A 3: 96,559,811 (GRCm39) E489K probably damaging Het
Mgat5b A C 11: 116,869,223 (GRCm39) I589L probably benign Het
Mindy4 A G 6: 55,232,601 (GRCm39) N348S probably benign Het
Mmp15 A G 8: 96,098,931 (GRCm39) D586G probably benign Het
Mmp9 A G 2: 164,791,247 (GRCm39) D139G probably damaging Het
Morc2a C A 11: 3,630,216 (GRCm39) L471I possibly damaging Het
Mycbp2 T A 14: 103,536,303 (GRCm39) probably benign Het
Mylip T A 13: 45,559,412 (GRCm39) S105T probably damaging Het
Nat8f4 A T 6: 85,878,406 (GRCm39) L39Q probably damaging Het
Nrbp1 T A 5: 31,403,157 (GRCm39) I210N probably damaging Het
Obscn T C 11: 58,920,198 (GRCm39) probably benign Het
Or10ak13 T C 4: 118,639,579 (GRCm39) T68A probably benign Het
Or11m3 G A 15: 98,396,135 (GRCm39) V261M possibly damaging Het
Or51k2 T A 7: 103,596,589 (GRCm39) V272D possibly damaging Het
Or5t7 T C 2: 86,507,507 (GRCm39) M57V possibly damaging Het
Or9k2 G T 10: 129,999,185 (GRCm39) D3E probably benign Het
Pramel29 T C 4: 143,934,129 (GRCm39) D326G probably damaging Het
Prl2c2 G C 13: 13,176,786 (GRCm39) T47R probably damaging Het
Rab11fip1 G T 8: 27,633,388 (GRCm39) A1106E probably damaging Het
Rfc1 A G 5: 65,448,537 (GRCm39) S363P probably damaging Het
Skint10 A G 4: 112,622,228 (GRCm39) probably benign Het
Spen T C 4: 141,196,711 (GRCm39) N3595D possibly damaging Het
Swsap1 A G 9: 21,868,450 (GRCm39) K241E probably benign Het
Tab1 A G 15: 80,044,315 (GRCm39) T448A possibly damaging Het
Tktl1 G T X: 73,241,289 (GRCm39) G302V probably damaging Het
Usp25 A G 16: 76,912,331 (GRCm39) T1017A probably benign Het
Vmn2r78 T A 7: 86,571,477 (GRCm39) M429K possibly damaging Het
Wdr49 A T 3: 75,336,640 (GRCm39) F356I probably damaging Het
Wnt1 T C 15: 98,689,764 (GRCm39) F184L probably damaging Het
Yy1 T C 12: 108,759,445 (GRCm39) I36T unknown Het
Zbtb39 A G 10: 127,579,369 (GRCm39) I648V possibly damaging Het
Other mutations in Atp6v0e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Atp6v0e2 APN 6 48,514,749 (GRCm39) missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- TGAAAGAGAGTAGCCGAGTCCTCC -3'
(R):5'- GCAGGGCATCTGAAAAGCACAC -3'

Sequencing Primer
(F):5'- CCGAGTCCTCCCTTGGTATG -3'
(R):5'- AGCTCCTCAGACTACTAGCATTG -3'
Posted On 2014-02-11