Incidental Mutation 'R7184:Atp6v1b2'
ID 559184
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms HO57, Atp6b2
MMRRC Submission 045236-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7184 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 69541388-69566370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 69555219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 194 (A194S)
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
AlphaFold P62814
Predicted Effect possibly damaging
Transcript: ENSMUST00000006435
AA Change: A194S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: A194S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,094,219 (GRCm39) S500P possibly damaging Het
Aldh9a1 T A 1: 167,184,965 (GRCm39) N292K probably benign Het
Art2b A T 7: 101,229,658 (GRCm39) S80R probably benign Het
Bsnd T C 4: 106,349,109 (GRCm39) M44V probably damaging Het
Cadps2 A T 6: 23,583,428 (GRCm39) V383E probably benign Het
Cd93 T C 2: 148,284,459 (GRCm39) T296A possibly damaging Het
Cdk15 G T 1: 59,304,814 (GRCm39) E138D probably benign Het
Cdon A G 9: 35,375,191 (GRCm39) I406V probably benign Het
Cfhr4 A G 1: 139,660,822 (GRCm39) V622A possibly damaging Het
Cyp3a41a A G 5: 145,642,663 (GRCm39) V232A probably benign Het
Dbndd1 T A 8: 124,235,860 (GRCm39) D130V probably damaging Het
Dnah14 C T 1: 181,532,094 (GRCm39) R2294* probably null Het
Eddm3b A G 14: 51,354,387 (GRCm39) Y125C probably damaging Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Enah A T 1: 181,749,957 (GRCm39) V294E probably damaging Het
Farp2 A G 1: 93,531,137 (GRCm39) E545G probably damaging Het
Farsb T C 1: 78,458,994 (GRCm39) E22G possibly damaging Het
Fcsk G A 8: 111,613,788 (GRCm39) P758S probably damaging Het
Fezf1 A G 6: 23,247,835 (GRCm39) V80A probably benign Het
Fpr2 T C 17: 18,113,533 (GRCm39) Y39H unknown Het
Fsd1l C A 4: 53,694,054 (GRCm39) R344S probably damaging Het
Fxyd1 G T 7: 30,751,401 (GRCm39) R90S unknown Het
Galnt4 T A 10: 98,944,466 (GRCm39) Y64N probably damaging Het
Gatb C T 3: 85,544,258 (GRCm39) Q409* probably null Het
Glipr2 A C 4: 43,968,667 (GRCm39) D73A possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gpr88 C T 3: 116,045,643 (GRCm39) V223I possibly damaging Het
Gtf2h3 A G 5: 124,722,067 (GRCm39) N55S probably benign Het
Htr4 T A 18: 62,570,498 (GRCm39) C184* probably null Het
Ighv6-3 T A 12: 114,355,475 (GRCm39) R71S probably benign Het
Itpr2 G C 6: 146,212,585 (GRCm39) I1510M possibly damaging Het
Keap1 T C 9: 21,145,134 (GRCm39) Q292R probably benign Het
Mab21l4 T C 1: 93,082,237 (GRCm39) N294S probably benign Het
Malt1 A C 18: 65,580,764 (GRCm39) E219D probably benign Het
Manba T C 3: 135,228,915 (GRCm39) V279A possibly damaging Het
Map4k5 T A 12: 69,921,095 (GRCm39) H41L probably benign Het
Mcm2 T G 6: 88,868,776 (GRCm39) Y327S probably damaging Het
Nectin3 A G 16: 46,215,484 (GRCm39) I503T possibly damaging Het
Nqo1 T C 8: 108,119,279 (GRCm39) I99M probably damaging Het
Nrxn2 A G 19: 6,540,582 (GRCm39) H845R probably damaging Het
Otogl C T 10: 107,599,061 (GRCm39) C2254Y probably damaging Het
Pmm1 T C 15: 81,840,415 (GRCm39) N110S probably damaging Het
Poc1b G T 10: 98,970,199 (GRCm39) C68F probably benign Het
Polr1b A G 2: 128,965,842 (GRCm39) Y828C possibly damaging Het
Prl3d1 A G 13: 27,282,619 (GRCm39) H119R probably damaging Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rusc1 T C 3: 88,999,194 (GRCm39) E196G possibly damaging Het
Sf3a3 A G 4: 124,608,772 (GRCm39) K29E probably benign Het
Slc13a1 A T 6: 24,092,311 (GRCm39) I475K probably damaging Het
Slc26a5 G T 5: 22,042,244 (GRCm39) Y237* probably null Het
Slc7a14 C T 3: 31,281,212 (GRCm39) G366D probably damaging Het
Tbc1d5 A G 17: 51,107,110 (GRCm39) V482A probably benign Het
Tdrd5 G T 1: 156,087,505 (GRCm39) Q883K probably benign Het
Tet2 T C 3: 133,179,391 (GRCm39) Y1258C probably damaging Het
Upf2 A G 2: 6,028,131 (GRCm39) D739G unknown Het
Vmn1r122 A T 7: 20,867,820 (GRCm39) F78L probably benign Het
Vmn1r75 A T 7: 11,614,915 (GRCm39) K216* probably null Het
Vmn2r11 A T 5: 109,201,281 (GRCm39) Y408N probably damaging Het
Wscd1 T A 11: 71,679,543 (GRCm39) V472D probably damaging Het
Zdbf2 G T 1: 63,345,664 (GRCm39) V1348F possibly damaging Het
Zfp442 G T 2: 150,250,056 (GRCm39) H615Q possibly damaging Het
Zfp457 C A 13: 67,442,065 (GRCm39) C170F possibly damaging Het
Zscan10 A G 17: 23,826,003 (GRCm39) probably null 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
R1954:Atp6v1b2 UTSW 8 69,558,555 (GRCm39) missense possibly damaging 0.95
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
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'- TCCATGACCAATGTGCAGACATAC -3'
(R):5'- TTTACCAAACCAGCCTGGCG -3'

Sequencing Primer
(F):5'- GTGCAGACATACTAACATTTTTCCC -3'
(R):5'- CGACAGATCTGAGCTGCAATCTG -3'
Posted On 2019-06-26