Incidental Mutation 'R1754:Atp6v1b2'
ID 193845
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms Atp6b2, HO57
MMRRC Submission 039786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1754 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 69088646-69113711 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69101961 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 106 (D106G)
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
AlphaFold P62814
Predicted Effect probably benign
Transcript: ENSMUST00000006435
AA Change: D106G

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: D106G

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
Validation Efficiency
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563D23Rik A G 16: 92,321,031 (GRCm38) V123A probably damaging Het
Abca2 T A 2: 25,434,333 (GRCm38) L234M probably benign Het
Abca3 G A 17: 24,377,779 (GRCm38) S402N probably benign Het
Acad12 A T 5: 121,607,481 (GRCm38) V249D probably benign Het
Acp4 T C 7: 44,255,004 (GRCm38) I212V probably benign Het
Actl6a T A 3: 32,718,574 (GRCm38) V233D probably damaging Het
Aire T A 10: 78,030,290 (GRCm38) Q533L probably damaging Het
Aldh3b3 T C 19: 3,968,517 (GRCm38) S411P probably benign Het
Amer2 A G 14: 60,379,757 (GRCm38) K467R probably damaging Het
Apol9b A T 15: 77,735,762 (GRCm38) I253F probably benign Het
Arid1b A G 17: 5,279,201 (GRCm38) probably null Het
Atp6v0a4 T C 6: 38,067,829 (GRCm38) T494A probably benign Het
Avpr1b T C 1: 131,600,101 (GRCm38) S121P probably damaging Het
Bcl11a A C 11: 24,164,724 (GRCm38) E689A probably damaging Het
Brpf3 T G 17: 28,821,323 (GRCm38) L906R probably benign Het
Btn1a1 T C 13: 23,460,468 (GRCm38) K287E probably benign Het
Cacna1i A G 15: 80,371,529 (GRCm38) H871R probably damaging Het
Cd14 A T 18: 36,725,514 (GRCm38) L296Q probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm38) probably benign Het
Colgalt1 G T 8: 71,623,179 (GRCm38) W490L probably damaging Het
Ctnna2 A G 6: 77,636,749 (GRCm38) I273T possibly damaging Het
Dnah7a A T 1: 53,504,185 (GRCm38) D2275E probably benign Het
Dnah7a A C 1: 53,561,900 (GRCm38) probably null Het
Egfem1 T C 3: 29,668,333 (GRCm38) Y404H possibly damaging Het
Esm1 A T 13: 113,216,696 (GRCm38) N171Y probably damaging Het
Exoc1 T G 5: 76,560,322 (GRCm38) probably null Het
Fcho1 A G 8: 71,711,246 (GRCm38) I580T probably benign Het
Fgfr1 A G 8: 25,570,210 (GRCm38) H552R probably damaging Het
Fsbp A G 4: 11,583,906 (GRCm38) R202G probably damaging Het
Gabra6 A G 11: 42,316,561 (GRCm38) V231A probably damaging Het
Gm8765 A T 13: 50,701,087 (GRCm38) T254S probably damaging Het
Gmeb1 A G 4: 132,232,027 (GRCm38) S239P probably benign Het
Gnpat T A 8: 124,877,006 (GRCm38) Y208N probably damaging Het
Il21 T C 3: 37,225,525 (GRCm38) K114R possibly damaging Het
Inhbc T C 10: 127,370,293 (GRCm38) D35G possibly damaging Het
Inpp4b A T 8: 81,770,811 (GRCm38) T87S probably damaging Het
Kcns2 T C 15: 34,839,517 (GRCm38) I342T possibly damaging Het
Ky A T 9: 102,541,927 (GRCm38) T378S possibly damaging Het
Lcat CAT C 8: 105,941,814 (GRCm38) probably null Het
Lrrc8d T C 5: 105,812,657 (GRCm38) V311A probably benign Het
Mief1 A G 15: 80,249,602 (GRCm38) I287V probably damaging Het
Mrpl47 A G 3: 32,730,084 (GRCm38) V179A probably benign Het
Mtcl1 T C 17: 66,380,183 (GRCm38) K576R probably damaging Het
Myh10 C A 11: 68,813,058 (GRCm38) A1902E probably damaging Het
Nlrp3 A G 11: 59,558,402 (GRCm38) T837A possibly damaging Het
Nr1i3 T C 1: 171,217,394 (GRCm38) Y132H probably damaging Het
Oit3 T C 10: 59,427,940 (GRCm38) probably null Het
Olfr1186 A T 2: 88,525,815 (GRCm38) R77S probably damaging Het
Olfr1467 T C 19: 13,365,353 (GRCm38) S242P probably damaging Het
Olfr193 T A 16: 59,110,581 (GRCm38) I10F probably benign Het
Olfr30 A T 11: 58,455,262 (GRCm38) M229K probably damaging Het
Olfr427 A G 1: 174,100,033 (GRCm38) T192A probably benign Het
Olfr533 A T 7: 140,466,860 (GRCm38) I220F probably damaging Het
Olfr8 T A 10: 78,955,697 (GRCm38) V164E probably damaging Het
Olfr825 G A 10: 130,163,164 (GRCm38) T54I probably benign Het
Pdlim4 T C 11: 54,055,873 (GRCm38) E196G possibly damaging Het
Pigs A G 11: 78,337,847 (GRCm38) Y293C probably damaging Het
Pkd1l2 A T 8: 117,030,719 (GRCm38) S1527T possibly damaging Het
Pkd2l1 A T 19: 44,155,601 (GRCm38) Y344* probably null Het
Pmp2 T C 3: 10,182,224 (GRCm38) probably null Het
Polr3e T C 7: 120,939,298 (GRCm38) probably null Het
Ppp3ca C G 3: 136,881,448 (GRCm38) I230M probably benign Het
Ppp5c T C 7: 17,005,310 (GRCm38) H463R probably benign Het
Ptger1 A G 8: 83,669,297 (GRCm38) N328D probably benign Het
Rhno1 A T 6: 128,357,859 (GRCm38) I167N probably benign Het
Rictor C A 15: 6,735,368 (GRCm38) P34H probably damaging Het
Rnf10 A C 5: 115,245,865 (GRCm38) S630R probably damaging Het
Rnf168 A G 16: 32,299,124 (GRCm38) Q501R probably benign Het
Rngtt T G 4: 33,329,634 (GRCm38) probably null Het
Samd9l G T 6: 3,373,126 (GRCm38) F1378L probably damaging Het
Slc9c1 T A 16: 45,589,509 (GRCm38) M864K probably benign Het
Slitrk5 T C 14: 111,680,519 (GRCm38) F525S probably damaging Het
Sox6 T C 7: 115,477,055 (GRCm38) M784V probably benign Het
Spint2 C T 7: 29,260,366 (GRCm38) probably null Het
Ssh1 A T 5: 113,955,845 (GRCm38) I276N probably damaging Het
Trank1 T A 9: 111,392,871 (GRCm38) V2892D probably benign Het
Ttn C A 2: 76,751,040 (GRCm38) E21424* probably null Het
Usp17lc T C 7: 103,418,848 (GRCm38) I450T probably benign Het
Vcan A G 13: 89,704,735 (GRCm38) V702A probably benign Het
Vmn1r36 TA TAA 6: 66,716,533 (GRCm38) probably null Het
Vmn2r51 G T 7: 10,099,946 (GRCm38) D388E probably benign Het
Zfp106 A C 2: 120,533,764 (GRCm38) S721A probably damaging Het
Zfp106 G A 2: 120,533,763 (GRCm38) S721L probably damaging Het
Zfp189 T A 4: 49,529,342 (GRCm38) H148Q possibly damaging Het
Zfp352 A T 4: 90,223,809 (GRCm38) Y62F probably benign Het
Zfp839 T C 12: 110,855,457 (GRCm38) V235A probably damaging Het
Zfp871 T C 17: 32,775,334 (GRCm38) Y289C 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
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
R2229: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 2014-05-23