Incidental Mutation 'R8478:Atp6v0e2'
ID 657367
Institutional Source Beutler Lab
Gene Symbol Atp6v0e2
Ensembl Gene ENSMUSG00000039347
Gene Name ATPase, H+ transporting, lysosomal V0 subunit E2
Synonyms 0610006O14Rik
MMRRC Submission 067922-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R8478 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48514549-48518735 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48517031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 70 (N70K)
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: N70K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000044110
Gene: ENSMUSG00000039347
AA Change: N70K

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

DomainStartEndE-ValueType
Pfam:ATP_synt_H 9 52 4e-12 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (66/66)
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
Actl11 A T 9: 107,805,844 (GRCm39) I56F possibly damaging Het
Adgrl3 G T 5: 81,942,348 (GRCm39) R1357L possibly damaging Het
Alpk1 T A 3: 127,522,961 (GRCm39) D27V probably damaging Het
Als2 T C 1: 59,225,175 (GRCm39) E986G probably damaging Het
Ankle2 T A 5: 110,400,818 (GRCm39) L717Q possibly damaging Het
Arl8b A G 6: 108,760,285 (GRCm39) T24A possibly damaging Het
Atp2a1 A G 7: 126,047,502 (GRCm39) I718T probably damaging Het
Bcl11a A G 11: 24,115,086 (GRCm39) S810G probably damaging Het
Bcl2a1d T G 9: 88,605,488 (GRCm39) *173S probably null Het
Bltp1 A T 3: 37,087,426 (GRCm39) D511V possibly damaging Het
Cacna1g A G 11: 94,317,278 (GRCm39) Y1494H probably damaging Het
Ccdc7a T C 8: 129,487,850 (GRCm39) K186E possibly damaging Het
Cfap43 T C 19: 47,764,515 (GRCm39) I817V probably benign Het
Chd5 C T 4: 152,441,147 (GRCm39) R196* probably null Het
Chsy1 C T 7: 65,820,748 (GRCm39) H328Y probably benign Het
Clcn3 A T 8: 61,372,522 (GRCm39) S713T probably benign Het
Csrnp3 A T 2: 65,708,400 (GRCm39) probably null Het
Dnhd1 A G 7: 105,332,001 (GRCm39) N86S probably benign Het
Epha3 T C 16: 63,593,444 (GRCm39) T215A probably damaging Het
Fgf1 T C 18: 38,987,944 (GRCm39) probably null Het
Fosl1 T C 19: 5,504,947 (GRCm39) S145P probably damaging Het
Frem3 T A 8: 81,338,187 (GRCm39) V160E probably damaging Het
Galk2 A T 2: 125,771,505 (GRCm39) K177* probably null Het
Gria1 T C 11: 57,200,668 (GRCm39) Y782H probably damaging Het
Gria4 C T 9: 4,793,882 (GRCm39) E59K probably damaging Het
Ighv1-11 A G 12: 114,575,919 (GRCm39) Y99H possibly damaging Het
Insm2 A T 12: 55,647,330 (GRCm39) Y358F probably damaging Het
Marveld3 C T 8: 110,688,600 (GRCm39) G47D probably damaging Het
Mthfd1l A G 10: 4,098,064 (GRCm39) D967G probably damaging Het
Nav2 G T 7: 49,111,733 (GRCm39) M746I probably damaging Het
Niban1 C A 1: 151,512,263 (GRCm39) T55K possibly damaging Het
Nmnat1 A G 4: 149,557,841 (GRCm39) I67T possibly damaging Het
Nub1 G T 5: 24,906,422 (GRCm39) R316L probably benign Het
Nxn A G 11: 76,164,869 (GRCm39) V214A probably damaging Het
Or52n5 C A 7: 104,588,477 (GRCm39) S248Y probably benign Het
Pelp1 A T 11: 70,285,146 (GRCm39) D907E unknown Het
Pik3c2a A T 7: 116,017,584 (GRCm39) S58T probably damaging Het
Pik3ca A G 3: 32,505,997 (GRCm39) N703S probably benign Het
Polr3c G A 3: 96,624,066 (GRCm39) probably benign Het
Pon1 C T 6: 5,185,318 (GRCm39) G61R probably damaging Het
Pou2f1 A T 1: 165,759,287 (GRCm39) M1K probably null Het
Prkdc T A 16: 15,466,788 (GRCm39) C90S probably benign Het
Prokr1 A G 6: 87,558,330 (GRCm39) Y352H probably benign Het
Rhod C T 19: 4,476,719 (GRCm39) R134H probably damaging Het
Rufy3 C T 5: 88,762,895 (GRCm39) R110W probably damaging Het
Sema4c A T 1: 36,590,871 (GRCm39) M460K probably benign Het
Slc46a3 T C 5: 147,815,963 (GRCm39) S455G probably benign Het
Smyd1 A T 6: 71,193,811 (GRCm39) H371Q probably damaging Het
Steap1 A G 5: 5,786,432 (GRCm39) M335T probably benign Het
Suox A G 10: 128,506,921 (GRCm39) V369A probably damaging Het
Thbs2 T C 17: 14,900,666 (GRCm39) I514V probably benign Het
Tie1 A T 4: 118,341,979 (GRCm39) probably null Het
Tmem131l T C 3: 83,805,769 (GRCm39) E1558G probably damaging Het
Tpcn1 G T 5: 120,698,386 (GRCm39) H45Q probably benign Het
Ush1c A G 7: 45,870,857 (GRCm39) S327P probably damaging Het
Ush2a G A 1: 188,175,429 (GRCm39) V1176M possibly damaging Het
Utrn A G 10: 12,524,892 (GRCm39) M2197T probably benign Het
Vmn1r50 G T 6: 90,085,071 (GRCm39) C272F probably benign Het
Vmn2r10 A T 5: 109,143,636 (GRCm39) N771K probably damaging Het
Vmn2r2 A T 3: 64,024,257 (GRCm39) F691I possibly damaging Het
Vmn2r53 T C 7: 12,340,281 (GRCm39) Q64R probably benign Het
Vmn2r95 G T 17: 18,672,544 (GRCm39) L760F probably damaging Het
Wdr97 T C 15: 76,247,629 (GRCm39) probably null Het
Xdh C A 17: 74,213,053 (GRCm39) E863D probably benign Het
Ykt6 A G 11: 5,912,407 (GRCm39) Y120C possibly damaging Het
Zranb2 A G 3: 157,251,745 (GRCm39) *321W probably null Het
Other mutations in Atp6v0e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01012:Atp6v0e2 APN 6 48,514,749 (GRCm39) missense probably damaging 0.97
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
R9224:Atp6v0e2 UTSW 6 48,516,190 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- TTCCCTGTACCAACCAGGAC -3'
(R):5'- CCTCAGACTACTAGCATTGCC -3'

Sequencing Primer
(F):5'- GGACACAGACCCTGCCATG -3'
(R):5'- CCCCTTGCTAAATAAACTAATTCCTG -3'
Posted On 2021-01-18