Incidental Mutation 'R2229:Atp6v1b2'
ID 239608
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms Atp6b2, HO57
MMRRC Submission 040230-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2229 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 69088646-69113711 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 69102759 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
AlphaFold P62814
Predicted Effect probably null
Transcript: ENSMUST00000006435
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 40,680,365 (GRCm38) I291L probably benign Het
Adcy8 C A 15: 64,822,207 (GRCm38) R407L possibly damaging Het
Adgb A T 10: 10,436,051 (GRCm38) V212E probably damaging Het
Adgrg7 C T 16: 56,752,403 (GRCm38) S350N probably benign Het
Agbl1 A G 7: 76,433,378 (GRCm38) T448A probably benign Het
Aldh1l1 C G 6: 90,583,186 (GRCm38) T605R probably damaging Het
Arfip1 A T 3: 84,547,973 (GRCm38) N18K probably damaging Het
Banp G A 8: 121,978,685 (GRCm38) S98N probably damaging Het
Btnl9 T C 11: 49,169,118 (GRCm38) D601G probably damaging Het
C9 T C 15: 6,445,420 (GRCm38) I20T possibly damaging Het
Cacna1b A G 2: 24,685,804 (GRCm38) V744A probably damaging Het
Catsper3 A G 13: 55,808,054 (GRCm38) E311G probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm38) probably null Het
Cdc5l A G 17: 45,407,846 (GRCm38) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 134,074,526 (GRCm38) probably benign Het
Eml4 C T 17: 83,451,056 (GRCm38) P502S probably benign Het
Fsip1 T C 2: 118,222,444 (GRCm38) E367G probably benign Het
Gja3 T C 14: 57,036,714 (GRCm38) D67G probably damaging Het
Gm4894 T C 9: 49,274,190 (GRCm38) probably benign Het
Gm7853 A G 14: 36,089,527 (GRCm38) noncoding transcript Het
Gmps T G 3: 64,014,263 (GRCm38) Y562* probably null Het
Golga2 C A 2: 32,306,465 (GRCm38) P976T probably benign Het
Gpr182 T A 10: 127,750,141 (GRCm38) I314F possibly damaging Het
Gprc6a A G 10: 51,626,795 (GRCm38) V324A possibly damaging Het
Gykl1 A G 18: 52,695,267 (GRCm38) T516A probably benign Het
Hist2h2ab T C 3: 96,220,106 (GRCm38) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,619,230 (GRCm38) L329M possibly damaging Het
Igsf9b T C 9: 27,333,496 (GRCm38) S920P probably damaging Het
Kif3c T A 12: 3,366,671 (GRCm38) S231T probably benign Het
Kpna7 A T 5: 144,989,697 (GRCm38) Y482N probably damaging Het
Lmnb2 T C 10: 80,904,392 (GRCm38) probably benign Het
Lrrc69 T C 4: 14,773,694 (GRCm38) S121G probably benign Het
Mppe1 A G 18: 67,228,011 (GRCm38) probably null Het
Muc5b T A 7: 141,861,644 (GRCm38) C2776S possibly damaging Het
Myh8 T G 11: 67,308,348 (GRCm38) N1893K probably damaging Het
Myo7a T C 7: 98,054,910 (GRCm38) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm38) T296A probably benign Het
Nckap1l T C 15: 103,455,934 (GRCm38) probably null Het
Nek5 A T 8: 22,113,632 (GRCm38) N151K possibly damaging Het
Nup93 C T 8: 94,304,191 (GRCm38) T305I probably benign Het
Oca2 T A 7: 56,357,155 (GRCm38) H663Q probably benign Het
Optn T A 2: 5,024,117 (GRCm38) H525L probably damaging Het
Pdzph1 A G 17: 58,932,412 (GRCm38) probably benign Het
Pikfyve A G 1: 65,267,855 (GRCm38) K1801E probably damaging Het
Pkd2l2 G A 18: 34,430,329 (GRCm38) V478M probably damaging Het
Pmepa1 G A 2: 173,228,133 (GRCm38) R210W probably damaging Het
Ppp1r3c C A 19: 36,733,698 (GRCm38) R224L probably benign Het
Prpf19 A G 19: 10,897,598 (GRCm38) T39A probably benign Het
Pwwp2b T C 7: 139,255,188 (GRCm38) C182R probably damaging Het
Rcan3 T C 4: 135,425,377 (GRCm38) D11G probably benign Het
Rgsl1 C A 1: 153,822,358 (GRCm38) W482L possibly damaging Het
Sfxn4 C T 19: 60,851,020 (GRCm38) G200E probably damaging Het
Slc4a8 T C 15: 100,809,299 (GRCm38) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm38) V334A probably benign Het
Smarcc2 A G 10: 128,488,341 (GRCm38) probably benign Het
Spata18 A T 5: 73,666,901 (GRCm38) I156L possibly damaging Het
Spats2 T C 15: 99,174,453 (GRCm38) probably null Het
Tas2r104 G A 6: 131,685,132 (GRCm38) H205Y probably damaging Het
Tcof1 A G 18: 60,832,177 (GRCm38) probably benign Het
Tex15 C A 8: 33,571,237 (GRCm38) H232N probably benign Het
Tg A T 15: 66,674,011 (GRCm38) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,644,776 (GRCm38) probably null Het
Trim25 T A 11: 89,016,621 (GRCm38) V602E probably damaging Het
Ttll9 A G 2: 152,983,063 (GRCm38) E54G probably damaging Het
Ttn T C 2: 76,729,324 (GRCm38) T29578A probably damaging Het
Tubgcp5 A G 7: 55,830,881 (GRCm38) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm38) P46S probably benign Het
Usp13 A G 3: 32,917,551 (GRCm38) I727V probably benign Het
Vmn2r67 T A 7: 85,152,042 (GRCm38) I229F probably benign Het
Vmn2r92 A C 17: 18,167,392 (GRCm38) I220L probably benign Het
Wnk4 T A 11: 101,275,641 (GRCm38) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm38) Y437N probably damaging Het
Zdhhc5 A G 2: 84,690,213 (GRCm38) I540T probably damaging Het
Zfp729b T C 13: 67,595,265 (GRCm38) I60M probably damaging Het
Other mutations in Atp6v1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp6v1b2 APN 8 69,088,934 (GRCm38) splice site probably null
IGL00908:Atp6v1b2 APN 8 69,096,266 (GRCm38) missense probably benign 0.00
IGL01914:Atp6v1b2 APN 8 69,096,280 (GRCm38) splice site probably benign
IGL03010:Atp6v1b2 APN 8 69,105,882 (GRCm38) missense probably damaging 0.97
IGL03376:Atp6v1b2 APN 8 69,102,159 (GRCm38) splice site probably benign
R0127:Atp6v1b2 UTSW 8 69,103,460 (GRCm38) missense probably damaging 1.00
R0427:Atp6v1b2 UTSW 8 69,101,432 (GRCm38) missense probably damaging 1.00
R0523:Atp6v1b2 UTSW 8 69,109,985 (GRCm38) missense possibly damaging 0.52
R1754:Atp6v1b2 UTSW 8 69,101,961 (GRCm38) missense probably benign 0.25
R1932:Atp6v1b2 UTSW 8 69,102,807 (GRCm38) nonsense probably null
R1954:Atp6v1b2 UTSW 8 69,105,903 (GRCm38) missense possibly damaging 0.95
R2228:Atp6v1b2 UTSW 8 69,102,759 (GRCm38) splice site probably null
R4448:Atp6v1b2 UTSW 8 69,102,022 (GRCm38) missense probably benign
R4738:Atp6v1b2 UTSW 8 69,103,410 (GRCm38) missense probably benign
R5243:Atp6v1b2 UTSW 8 69,103,739 (GRCm38) missense probably benign 0.07
R5388:Atp6v1b2 UTSW 8 69,101,437 (GRCm38) missense probably benign 0.00
R5664:Atp6v1b2 UTSW 8 69,107,620 (GRCm38) missense probably damaging 0.99
R5774:Atp6v1b2 UTSW 8 69,101,961 (GRCm38) missense probably damaging 0.97
R5894:Atp6v1b2 UTSW 8 69,107,566 (GRCm38) splice site probably null
R6015:Atp6v1b2 UTSW 8 69,102,496 (GRCm38) missense probably damaging 1.00
R6147:Atp6v1b2 UTSW 8 69,102,482 (GRCm38) nonsense probably null
R6217:Atp6v1b2 UTSW 8 69,109,878 (GRCm38) critical splice acceptor site probably null
R6636:Atp6v1b2 UTSW 8 69,101,374 (GRCm38) missense probably damaging 1.00
R6637:Atp6v1b2 UTSW 8 69,101,374 (GRCm38) missense probably damaging 1.00
R7032:Atp6v1b2 UTSW 8 69,088,896 (GRCm38) missense probably benign 0.44
R7108:Atp6v1b2 UTSW 8 69,102,501 (GRCm38) missense probably damaging 1.00
R7184:Atp6v1b2 UTSW 8 69,102,567 (GRCm38) missense possibly damaging 0.55
R7578:Atp6v1b2 UTSW 8 69,103,476 (GRCm38) missense probably benign 0.01
R8168:Atp6v1b2 UTSW 8 69,108,331 (GRCm38) missense possibly damaging 0.93
R8342:Atp6v1b2 UTSW 8 69,101,383 (GRCm38) missense probably benign 0.00
R8380:Atp6v1b2 UTSW 8 69,103,390 (GRCm38) missense probably damaging 1.00
R8961:Atp6v1b2 UTSW 8 69,102,762 (GRCm38) missense probably benign 0.01
R9100:Atp6v1b2 UTSW 8 69,088,824 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-15