Incidental Mutation 'IGL03376:Atp6v1b2'
ID 420501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms Atp6b2, HO57
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL03376
Quality Score
Status
Chromosome 8
Chromosomal Location 69088646-69113711 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 69102159 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 benign
Transcript: ENSMUST00000006435
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273

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
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Cmtr1 C T 17: 29,691,411 R497C probably benign Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Ikzf3 T A 11: 98,488,953 H163L probably damaging Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Rassf9 A G 10: 102,545,198 N145S probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Slc30a8 C T 15: 52,306,457 R27* probably null Het
Tmco2 T A 4: 121,109,052 T36S probably benign Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Atp6v1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp6v1b2 APN 8 69088934 splice site probably null
IGL00908:Atp6v1b2 APN 8 69096266 missense probably benign 0.00
IGL01914:Atp6v1b2 APN 8 69096280 splice site probably benign
IGL03010:Atp6v1b2 APN 8 69105882 missense probably damaging 0.97
R0127:Atp6v1b2 UTSW 8 69103460 missense probably damaging 1.00
R0427:Atp6v1b2 UTSW 8 69101432 missense probably damaging 1.00
R0523:Atp6v1b2 UTSW 8 69109985 missense possibly damaging 0.52
R1754:Atp6v1b2 UTSW 8 69101961 missense probably benign 0.25
R1932:Atp6v1b2 UTSW 8 69102807 nonsense probably null
R1954:Atp6v1b2 UTSW 8 69105903 missense possibly damaging 0.95
R2228:Atp6v1b2 UTSW 8 69102759 splice site probably null
R2229:Atp6v1b2 UTSW 8 69102759 splice site probably null
R4448:Atp6v1b2 UTSW 8 69102022 missense probably benign
R4738:Atp6v1b2 UTSW 8 69103410 missense probably benign
R5243:Atp6v1b2 UTSW 8 69103739 missense probably benign 0.07
R5388:Atp6v1b2 UTSW 8 69101437 missense probably benign 0.00
R5664:Atp6v1b2 UTSW 8 69107620 missense probably damaging 0.99
R5774:Atp6v1b2 UTSW 8 69101961 missense probably damaging 0.97
R5894:Atp6v1b2 UTSW 8 69107566 splice site probably null
R6015:Atp6v1b2 UTSW 8 69102496 missense probably damaging 1.00
R6147:Atp6v1b2 UTSW 8 69102482 nonsense probably null
R6217:Atp6v1b2 UTSW 8 69109878 critical splice acceptor site probably null
R6636:Atp6v1b2 UTSW 8 69101374 missense probably damaging 1.00
R6637:Atp6v1b2 UTSW 8 69101374 missense probably damaging 1.00
R7032:Atp6v1b2 UTSW 8 69088896 missense probably benign 0.44
R7108:Atp6v1b2 UTSW 8 69102501 missense probably damaging 1.00
R7184:Atp6v1b2 UTSW 8 69102567 missense possibly damaging 0.55
R7578:Atp6v1b2 UTSW 8 69103476 missense probably benign 0.01
R8168:Atp6v1b2 UTSW 8 69108331 missense possibly damaging 0.93
R8342:Atp6v1b2 UTSW 8 69101383 missense probably benign 0.00
R8380:Atp6v1b2 UTSW 8 69103390 missense probably damaging 1.00
R8961:Atp6v1b2 UTSW 8 69102762 missense probably benign 0.01
R9100:Atp6v1b2 UTSW 8 69088824 missense
Posted On 2016-08-02