Incidental Mutation 'R7122:Atp6v0e'
ID 552112
Institutional Source Beutler Lab
Gene Symbol Atp6v0e
Ensembl Gene ENSMUSG00000015575
Gene Name ATPase, H+ transporting, lysosomal V0 subunit E
Synonyms Atp6k, M9.2, lysosomal 9kDa
MMRRC Submission 045245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R7122 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 26895370-26918621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26914390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 72 (T72A)
Ref Sequence ENSEMBL: ENSMUSP00000015719 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015719] [ENSMUST00000167352]
AlphaFold Q9CQD8
Predicted Effect probably benign
Transcript: ENSMUST00000015719
AA Change: T72A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000015719
Gene: ENSMUSG00000015575
AA Change: T72A

DomainStartEndE-ValueType
Pfam:ATP_synt_H 8 72 6.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167352
AA Change: T72A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127552
Gene: ENSMUSG00000015575
AA Change: T72A

DomainStartEndE-ValueType
Pfam:ATP_synt_H 8 72 6.2e-30 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (75/76)
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 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 possibly part of the V0 subunit. Since two nontranscribed pseudogenes have been found in dog, it is possible that the localization to chromosome 2 for this gene by radiation hybrid mapping is representing a pseudogene. Genomic mapping puts the chromosomal location on 5q35.3. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 T A 13: 4,561,275 (GRCm39) E126V probably benign Het
Alg3 A T 16: 20,426,602 (GRCm39) L213H probably damaging Het
Atp1a4 T A 1: 172,059,503 (GRCm39) Y863F possibly damaging Het
Aup1 A G 6: 83,032,123 (GRCm39) T97A probably benign Het
Bcl6 T C 16: 23,791,652 (GRCm39) D234G probably damaging Het
Cdc42bpa T C 1: 179,892,583 (GRCm39) L249P probably damaging Het
Celsr3 A G 9: 108,705,766 (GRCm39) K750E possibly damaging Het
Ces1g C A 8: 94,043,665 (GRCm39) G425C possibly damaging Het
Chl1 T C 6: 103,683,409 (GRCm39) L745P probably damaging Het
Csmd2 G A 4: 128,343,020 (GRCm39) V1471M Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
E4f1 G A 17: 24,663,808 (GRCm39) Q569* probably null Het
Efcab3 A T 11: 104,899,787 (GRCm39) I4350F possibly damaging Het
Fbxw24 A T 9: 109,430,328 (GRCm39) C439S probably benign Het
Ftdc2 C A 16: 58,458,140 (GRCm39) A54S probably benign Het
Gmip C T 8: 70,270,452 (GRCm39) P721S probably benign Het
Grip1 A G 10: 119,871,279 (GRCm39) I669V possibly damaging Het
Gsn A T 2: 35,185,061 (GRCm39) K339* probably null Het
Herc1 G T 9: 66,307,056 (GRCm39) A959S possibly damaging Het
Hic1 A G 11: 75,060,056 (GRCm39) V97A probably benign Het
Il11ra1 A G 4: 41,766,189 (GRCm39) Y242C probably damaging Het
Iqsec3 A C 6: 121,450,317 (GRCm39) V69G unknown Het
Jak3 T A 8: 72,138,601 (GRCm39) M933K probably damaging Het
Kbtbd7 G A 14: 79,665,757 (GRCm39) V530I probably damaging Het
Kif22 G A 7: 126,632,150 (GRCm39) R345C probably benign Het
Klhl7 G A 5: 24,343,433 (GRCm39) E250K probably damaging Het
Klk1b4 A G 7: 43,860,531 (GRCm39) H183R probably damaging Het
Lhfpl4 C T 6: 113,153,632 (GRCm39) V140I probably benign Het
Lhx5 T A 5: 120,574,410 (GRCm39) M238K probably benign Het
Lin28b A T 10: 45,345,244 (GRCm39) H27Q probably benign Het
Mgat4c A T 10: 102,214,070 (GRCm39) R18* probably null Het
Myct1 C A 10: 5,554,492 (GRCm39) H120N probably damaging Het
Nek1 A T 8: 61,559,829 (GRCm39) D984V probably benign Het
Nfu1 A T 6: 86,986,863 (GRCm39) probably benign Het
Nipsnap1 A T 11: 4,833,366 (GRCm39) probably null Het
Nlrp9c A G 7: 26,085,046 (GRCm39) Y178H probably damaging Het
Nrxn3 T A 12: 89,477,377 (GRCm39) M520K probably damaging Het
Oacyl A G 18: 65,853,323 (GRCm39) D143G probably benign Het
Obox5 A G 7: 15,492,732 (GRCm39) Y229C probably damaging Het
Or1j12 A G 2: 36,342,702 (GRCm39) Y35C probably damaging Het
Or1j18 G A 2: 36,624,436 (GRCm39) M34I probably benign Het
Or2a5 T C 6: 42,874,024 (GRCm39) V213A probably damaging Het
Or52n5 T C 7: 104,588,405 (GRCm39) L224P probably damaging Het
Otogl C T 10: 107,702,515 (GRCm39) A713T probably benign Het
Pcdhb17 A C 18: 37,619,566 (GRCm39) N452T probably benign Het
Pi16 A G 17: 29,545,313 (GRCm39) Y192C probably damaging Het
Pla2g5 T C 4: 138,531,830 (GRCm39) D58G probably damaging Het
Plpp4 G T 7: 128,981,207 (GRCm39) V153F unknown Het
Plxna2 C A 1: 194,326,876 (GRCm39) S270* probably null Het
Pole T A 5: 110,472,968 (GRCm39) probably null Het
Prmt7 T C 8: 106,961,732 (GRCm39) F215S unknown Het
Ptpn21 C T 12: 98,655,171 (GRCm39) V599I probably damaging Het
Rab26 C A 17: 24,749,652 (GRCm39) R131L probably damaging Het
Raph1 A T 1: 60,565,136 (GRCm39) V117D probably benign Het
Sacs T C 14: 61,447,845 (GRCm39) V3297A probably damaging Het
Serpine1 C A 5: 137,095,796 (GRCm39) A262S probably benign Het
Sgf29 A G 7: 126,271,221 (GRCm39) D193G probably null Het
Sh3rf2 G A 18: 42,237,227 (GRCm39) probably null Het
Sipa1l1 T C 12: 82,469,236 (GRCm39) V1245A possibly damaging Het
Slc22a7 A G 17: 46,749,224 (GRCm39) L31P probably damaging Het
Slc24a5 G A 2: 124,930,111 (GRCm39) V471I probably benign Het
Slc26a7 A T 4: 14,533,639 (GRCm39) Y395N probably damaging Het
Slc38a2 T C 15: 96,591,182 (GRCm39) M229V probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Susd1 G A 4: 59,411,318 (GRCm39) R225* probably null Het
Suz12 T A 11: 79,884,419 (GRCm39) F92I probably damaging Het
Tmem114 C A 16: 8,242,610 (GRCm39) probably benign Het
Tmem68 A G 4: 3,564,107 (GRCm39) V159A probably benign Het
Tpra1 T A 6: 88,885,276 (GRCm39) I76N probably damaging Het
Trim45 A G 3: 100,839,353 (GRCm39) T752A unknown Het
Trp63 C A 16: 25,639,227 (GRCm39) H138Q probably damaging Het
Ugt2a2 T C 5: 87,608,255 (GRCm39) D528G possibly damaging Het
Vmn2r39 T G 7: 9,017,761 (GRCm39) K858N possibly damaging Het
Zfp629 A T 7: 127,210,484 (GRCm39) S442T probably damaging Het
Other mutations in Atp6v0e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6265:Atp6v0e UTSW 17 26,895,507 (GRCm39) missense possibly damaging 0.91
R7097:Atp6v0e UTSW 17 26,914,390 (GRCm39) missense probably benign 0.03
R7432:Atp6v0e UTSW 17 26,901,672 (GRCm39) missense probably benign 0.03
R7968:Atp6v0e UTSW 17 26,913,885 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- TCCCAGGAGAACAATGTGTAGTG -3'
(R):5'- AAACCAGTCTACTCTTCGGCTATC -3'

Sequencing Primer
(F):5'- GAAGGCTTTGTCTGAATGGACTACAC -3'
(R):5'- ATCTCAGCTGTCTTTAAATGGCCATG -3'
Posted On 2019-05-15