Incidental Mutation 'R1954:Atp6v1b2'
ID 217568
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms HO57, Atp6b2
MMRRC Submission 039968-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1954 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69541388-69566370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69558555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 341 (V341A)
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
AlphaFold P62814
Predicted Effect possibly damaging
Transcript: ENSMUST00000006435
AA Change: V341A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: V341A

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 50 116 3.2e-14 PFAM
Pfam:ATP-synt_ab 173 399 1.9e-69 PFAM
Pfam:ATP-synt_ab_C 416 510 5.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153680
Meta Mutation Damage Score 0.4064 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (101/104)
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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,822,004 (GRCm39) M478L probably benign Het
Akap8l T A 17: 32,555,710 (GRCm39) Y123F possibly damaging Het
Anapc4 T G 5: 53,003,967 (GRCm39) probably benign Het
Arap3 A G 18: 38,115,055 (GRCm39) V987A probably damaging Het
Atp2b4 T A 1: 133,667,730 (GRCm39) T105S probably damaging Het
Atp6v0d1 A G 8: 106,292,525 (GRCm39) L7P probably damaging Het
Baz2b C A 2: 59,799,087 (GRCm39) A346S probably benign Het
Brpf3 G A 17: 29,025,533 (GRCm39) S202N probably benign Het
Btnl4 T C 17: 34,691,904 (GRCm39) K233E possibly damaging Het
Capn7 A G 14: 31,082,107 (GRCm39) T438A probably damaging Het
Cars2 A T 8: 11,600,286 (GRCm39) Y68N probably damaging Het
Cbx2 G T 11: 118,919,166 (GRCm39) G244W probably damaging Het
Ccr4 A T 9: 114,321,753 (GRCm39) V104D probably damaging Het
Cdc5l T C 17: 45,737,442 (GRCm39) probably null Het
Cep170 A T 1: 176,583,950 (GRCm39) C810S probably benign Het
Cfap299 A T 5: 98,714,612 (GRCm39) probably benign Het
Clp1 T C 2: 84,554,395 (GRCm39) D258G probably damaging Het
Clstn3 T C 6: 124,436,257 (GRCm39) E164G possibly damaging Het
Col28a1 T C 6: 7,998,516 (GRCm39) E1131G probably damaging Het
Cps1 A G 1: 67,234,355 (GRCm39) D914G possibly damaging Het
Ctnnal1 C T 4: 56,817,242 (GRCm39) probably benign Het
Cyp2c38 A G 19: 39,393,131 (GRCm39) L312P probably damaging Het
Cytip T C 2: 58,038,265 (GRCm39) N99D possibly damaging Het
Dennd4a A T 9: 64,759,749 (GRCm39) T285S probably benign Het
Dhx8 A G 11: 101,644,105 (GRCm39) S842G probably damaging Het
Disp1 A T 1: 182,870,107 (GRCm39) M771K probably damaging Het
Dnah17 A G 11: 117,915,557 (GRCm39) I4326T probably damaging Het
Efcab7 T C 4: 99,757,887 (GRCm39) F345L probably damaging Het
Erc1 G T 6: 119,774,266 (GRCm39) Q230K probably damaging Het
Ern1 A T 11: 106,312,800 (GRCm39) probably benign Het
Espl1 T C 15: 102,206,823 (GRCm39) Y96H probably damaging Het
Fam135a A T 1: 24,068,683 (GRCm39) L533I probably damaging Het
Fat2 G A 11: 55,201,910 (GRCm39) T388I probably benign Het
Galnt1 T G 18: 24,404,831 (GRCm39) probably benign Het
Glmn A G 5: 107,720,243 (GRCm39) F212S probably damaging Het
Gm3604 A T 13: 62,517,025 (GRCm39) N444K probably damaging Het
Gvin-ps5 A C 7: 105,928,888 (GRCm39) D336E probably damaging Het
H1f2 T C 13: 23,923,385 (GRCm39) V185A unknown Het
H1f3 A G 13: 23,739,690 (GRCm39) probably benign Het
H2-M10.3 T C 17: 36,678,390 (GRCm39) D145G probably damaging Het
Hic2 T A 16: 17,076,857 (GRCm39) L562Q probably damaging Het
Hip1r G T 5: 124,139,907 (GRCm39) E1003D probably damaging Het
Hsfy2 C T 1: 56,676,342 (GRCm39) C65Y probably benign Het
Inpp1 T C 1: 52,833,788 (GRCm39) T103A probably damaging Het
Ints5 T C 19: 8,872,260 (GRCm39) V73A probably damaging Het
Iqch A T 9: 63,455,298 (GRCm39) D166E probably benign Het
Klhdc3 A T 17: 46,988,901 (GRCm39) N96K probably damaging Het
Klk1b8 C T 7: 43,603,272 (GRCm39) probably benign Het
Klrb1 T C 6: 128,700,036 (GRCm39) probably null Het
Krt71 C A 15: 101,643,901 (GRCm39) G446* probably null Het
Lars1 G A 18: 42,343,115 (GRCm39) R1101C probably damaging Het
Lemd3 G T 10: 120,814,845 (GRCm39) S129R probably damaging Het
Lrp1b A G 2: 40,748,453 (GRCm39) L3015P probably damaging Het
Mdga2 T C 12: 66,533,482 (GRCm39) probably benign Het
Mlst8 A T 17: 24,696,195 (GRCm39) I178N probably damaging Het
Mon2 A T 10: 122,874,388 (GRCm39) I320N probably damaging Het
Morc2b T C 17: 33,356,464 (GRCm39) Y436C probably damaging Het
Moxd1 T A 10: 24,155,781 (GRCm39) M295K probably benign Het
Mrps5 T A 2: 127,438,817 (GRCm39) probably null Het
Mtor C A 4: 148,552,730 (GRCm39) S744R probably damaging Het
Myo3a T A 2: 22,246,037 (GRCm39) D61E probably damaging Het
Nars1 C T 18: 64,633,635 (GRCm39) R545Q probably damaging Het
Ncoa6 A G 2: 155,248,741 (GRCm39) V1521A possibly damaging Het
Ndor1 T C 2: 25,145,305 (GRCm39) E20G possibly damaging Het
Nipsnap3b T C 4: 53,017,213 (GRCm39) probably benign Het
Notch3 G T 17: 32,385,652 (GRCm39) A39E probably benign Het
Or1j16 A G 2: 36,530,227 (GRCm39) M59V possibly damaging Het
Or2a14 T C 6: 43,130,911 (GRCm39) I224T possibly damaging Het
Or6z3 G T 7: 6,464,144 (GRCm39) W212L probably benign Het
Otud3 T C 4: 138,625,343 (GRCm39) K237R possibly damaging Het
Papola T A 12: 105,794,532 (GRCm39) probably null Het
Parl T A 16: 20,121,077 (GRCm39) M1L possibly damaging Het
Parp14 G T 16: 35,678,671 (GRCm39) N432K probably benign Het
Patz1 T G 11: 3,241,088 (GRCm39) S159A probably damaging Het
Prpf6 T G 2: 181,273,870 (GRCm39) M338R probably benign Het
Psd3 A G 8: 68,149,727 (GRCm39) L343P probably damaging Het
Ptpn23 A T 9: 110,215,393 (GRCm39) N1422K probably damaging Het
Rab19 A T 6: 39,361,016 (GRCm39) T55S probably benign Het
Sh3yl1 A G 12: 30,972,332 (GRCm39) K34E possibly damaging Het
Skint8 T A 4: 111,807,278 (GRCm39) F321L possibly damaging Het
Slc25a46 A T 18: 31,733,294 (GRCm39) probably null Het
Slc26a3 T C 12: 31,500,815 (GRCm39) L184S probably damaging Het
Slc39a10 A T 1: 46,874,334 (GRCm39) S323T possibly damaging Het
Sorbs2 G T 8: 46,198,775 (GRCm39) R20L probably benign Het
Stk32a A T 18: 43,345,090 (GRCm39) D13V probably benign Het
Tab2 T C 10: 7,795,094 (GRCm39) T463A probably damaging Het
Tenm2 T A 11: 35,938,374 (GRCm39) N1433I possibly damaging Het
Tmem200c A T 17: 69,147,956 (GRCm39) I180F probably damaging Het
Tmem232 G T 17: 65,791,482 (GRCm39) H129N probably benign Het
Tmem242 T C 17: 5,489,854 (GRCm39) T47A possibly damaging Het
Ube2d1 A T 10: 71,120,953 (GRCm39) M1K probably null Het
Ube2frt A G 12: 36,140,595 (GRCm39) probably benign Het
Uckl1 T C 2: 181,212,320 (GRCm39) Q332R probably benign Het
Unc5b T C 10: 60,605,044 (GRCm39) probably benign Het
Vmn2r114 T C 17: 23,530,086 (GRCm39) Y107C probably benign Het
Vmn2r82 A T 10: 79,231,890 (GRCm39) S630C probably damaging Het
Wdr25 T A 12: 108,864,467 (GRCm39) V204E probably damaging Het
Xab2 T A 8: 3,666,094 (GRCm39) D227V probably damaging Het
Zfp286 A G 11: 62,674,534 (GRCm39) S104P possibly damaging Het
Zfp345 T C 2: 150,316,741 (GRCm39) D22G probably damaging Het
Other mutations in Atp6v1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp6v1b2 APN 8 69,541,586 (GRCm39) splice site probably null
IGL00908:Atp6v1b2 APN 8 69,548,918 (GRCm39) missense probably benign 0.00
IGL01914:Atp6v1b2 APN 8 69,548,932 (GRCm39) splice site probably benign
IGL03010:Atp6v1b2 APN 8 69,558,534 (GRCm39) missense probably damaging 0.97
IGL03376:Atp6v1b2 APN 8 69,554,811 (GRCm39) splice site probably benign
R0127:Atp6v1b2 UTSW 8 69,556,112 (GRCm39) missense probably damaging 1.00
R0427:Atp6v1b2 UTSW 8 69,554,084 (GRCm39) missense probably damaging 1.00
R0523:Atp6v1b2 UTSW 8 69,562,637 (GRCm39) missense possibly damaging 0.52
R1754:Atp6v1b2 UTSW 8 69,554,613 (GRCm39) missense probably benign 0.25
R1932:Atp6v1b2 UTSW 8 69,555,459 (GRCm39) nonsense probably null
R2228:Atp6v1b2 UTSW 8 69,555,411 (GRCm39) splice site probably null
R2229:Atp6v1b2 UTSW 8 69,555,411 (GRCm39) splice site probably null
R4448:Atp6v1b2 UTSW 8 69,554,674 (GRCm39) missense probably benign
R4738:Atp6v1b2 UTSW 8 69,556,062 (GRCm39) missense probably benign
R5243:Atp6v1b2 UTSW 8 69,556,391 (GRCm39) missense probably benign 0.07
R5388:Atp6v1b2 UTSW 8 69,554,089 (GRCm39) missense probably benign 0.00
R5664:Atp6v1b2 UTSW 8 69,560,272 (GRCm39) missense probably damaging 0.99
R5774:Atp6v1b2 UTSW 8 69,554,613 (GRCm39) missense probably damaging 0.97
R5894:Atp6v1b2 UTSW 8 69,560,218 (GRCm39) splice site probably null
R6015:Atp6v1b2 UTSW 8 69,555,148 (GRCm39) missense probably damaging 1.00
R6147:Atp6v1b2 UTSW 8 69,555,134 (GRCm39) nonsense probably null
R6217:Atp6v1b2 UTSW 8 69,562,530 (GRCm39) critical splice acceptor site probably null
R6636:Atp6v1b2 UTSW 8 69,554,026 (GRCm39) missense probably damaging 1.00
R6637:Atp6v1b2 UTSW 8 69,554,026 (GRCm39) missense probably damaging 1.00
R7032:Atp6v1b2 UTSW 8 69,541,548 (GRCm39) missense probably benign 0.44
R7108:Atp6v1b2 UTSW 8 69,555,153 (GRCm39) missense probably damaging 1.00
R7184:Atp6v1b2 UTSW 8 69,555,219 (GRCm39) missense possibly damaging 0.55
R7578:Atp6v1b2 UTSW 8 69,556,128 (GRCm39) missense probably benign 0.01
R8168:Atp6v1b2 UTSW 8 69,560,983 (GRCm39) missense possibly damaging 0.93
R8342:Atp6v1b2 UTSW 8 69,554,035 (GRCm39) missense probably benign 0.00
R8380:Atp6v1b2 UTSW 8 69,556,042 (GRCm39) missense probably damaging 1.00
R8961:Atp6v1b2 UTSW 8 69,555,414 (GRCm39) missense probably benign 0.01
R9100:Atp6v1b2 UTSW 8 69,541,476 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- GCCCCAACTGAATTTCTGATTC -3'
(R):5'- AGACAGCTGACTTCTGCCCTAC -3'

Sequencing Primer
(F):5'- TGTCTAAGTTAACACTTTGTTGGAC -3'
(R):5'- TCTCTGACACTGTGGAAAGC -3'
Posted On 2014-08-01