Incidental Mutation 'R9100:Atp6v1b2'
ID 691626
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms HO57, Atp6b2
MMRRC Submission 068914-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9100 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 69541388-69566370 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69541476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 11 (N11S)
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435] [ENSMUST00000037478] [ENSMUST00000148856]
AlphaFold P62814
Predicted Effect
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: N11S

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 probably benign
Transcript: ENSMUST00000037478
SMART Domains Protein: ENSMUSP00000046924
Gene: ENSMUSG00000036330

DomainStartEndE-ValueType
Pfam:MFS_1 24 430 3.7e-34 PFAM
Pfam:MFS_1 302 508 9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148856
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (75/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,853,800 (GRCm39) V444A possibly damaging Het
Add1 T A 5: 34,770,622 (GRCm39) probably benign Het
Adgrg3 A G 8: 95,762,891 (GRCm39) probably benign Het
Adgrl3 A C 5: 81,842,299 (GRCm39) Q809P possibly damaging Het
Ankmy2 T C 12: 36,236,806 (GRCm39) C205R probably damaging Het
B3gnt6 T A 7: 97,843,958 (GRCm39) M1L not run Het
Bltp1 A G 3: 37,098,907 (GRCm39) K1256R Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cdca8 T C 4: 124,830,238 (GRCm39) T45A probably benign Het
Ces2b C A 8: 105,558,221 (GRCm39) probably benign Het
Clip4 G A 17: 72,117,884 (GRCm39) G310R probably damaging Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cnot3 A G 7: 3,661,192 (GRCm39) D567G probably benign Het
Cnot6l T C 5: 96,230,875 (GRCm39) D364G probably damaging Het
Cpped1 A G 16: 11,646,419 (GRCm39) V111A Het
Cstdc4 T A 16: 36,008,285 (GRCm39) M57K possibly damaging Het
Cyp11b2 T C 15: 74,722,995 (GRCm39) K468E probably damaging Het
Dpp4 T G 2: 62,204,733 (GRCm39) T245P possibly damaging Het
Efcab15 T C 11: 103,090,893 (GRCm39) T151A probably benign Het
Fat2 A G 11: 55,153,347 (GRCm39) W3622R probably damaging Het
Fat4 A C 3: 39,064,803 (GRCm39) K4920Q Het
Frmpd2 A G 14: 33,252,407 (GRCm39) I656M probably benign Het
Gck A G 11: 5,856,516 (GRCm39) Y214H probably damaging Het
Gde1 C T 7: 118,294,305 (GRCm39) R166H probably benign Het
Gdf7 A T 12: 8,348,652 (GRCm39) F215Y unknown Het
Gdpgp1 A G 7: 79,888,282 (GRCm39) I104M probably benign Het
Gldc A G 19: 30,077,314 (GRCm39) S953P possibly damaging Het
Golga3 C T 5: 110,337,544 (GRCm39) H411Y probably benign Het
Gpn1 G T 5: 31,655,740 (GRCm39) R101I probably damaging Het
Itgb5 T A 16: 33,740,551 (GRCm39) S554T possibly damaging Het
Klhl1 G A 14: 96,584,364 (GRCm39) L289F probably damaging Het
Klhl13 C T X: 23,113,733 (GRCm39) R95Q probably benign Het
Kmt2d G C 15: 98,747,832 (GRCm39) T3164R unknown Het
Knl1 T C 2: 118,899,469 (GRCm39) V390A probably benign Het
Krtap5-2 GCCACAGCCTCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA GCCACAGCCCCCACAGGAACTACA 7: 141,728,836 (GRCm39) probably benign Het
Lamtor4 G A 5: 138,254,595 (GRCm39) probably benign Het
Lonrf1 AGGCGGCGGCGGCGG AGGCGGCGGCGG 8: 36,715,919 (GRCm39) probably benign Het
Ltbp1 C T 17: 75,622,102 (GRCm39) L829F probably benign Het
Ltbp1 T A 17: 75,622,103 (GRCm39) L829H probably damaging Het
Mrgpra1 C T 7: 46,984,732 (GRCm39) E316K probably damaging Het
Muc16 T A 9: 18,556,966 (GRCm39) H3109L unknown Het
Nck1 T C 9: 100,377,561 (GRCm39) E368G probably damaging Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Nus1 A T 10: 52,305,287 (GRCm39) probably null Het
Nxph2 T C 2: 23,289,780 (GRCm39) V44A probably benign Het
Or1e30 A G 11: 73,678,687 (GRCm39) K308E probably benign Het
Or4f56 A G 2: 111,703,606 (GRCm39) M198T possibly damaging Het
Or4k35 A G 2: 111,100,094 (GRCm39) L206P probably benign Het
Or4z4 G T 19: 12,076,254 (GRCm39) H250N probably benign Het
Or5d35 T C 2: 87,855,330 (GRCm39) I88T probably benign Het
Or5m11b A G 2: 85,806,096 (GRCm39) K170E probably benign Het
Or6d13 A T 6: 116,517,990 (GRCm39) N192I possibly damaging Het
Otof T C 5: 30,539,696 (GRCm39) D1039G possibly damaging Het
Parpbp T A 10: 87,968,969 (GRCm39) Q159L possibly damaging Het
Per2 A T 1: 91,351,464 (GRCm39) L1014Q possibly damaging Het
Pik3ap1 C G 19: 41,312,924 (GRCm39) silent Het
Pik3ca A G 3: 32,514,168 (GRCm39) N885D probably damaging Het
Pip5k1c T C 10: 81,145,056 (GRCm39) V299A probably benign Het
Polr3h A T 15: 81,806,717 (GRCm39) probably benign Het
Pramel11 T A 4: 143,623,646 (GRCm39) N176I probably benign Het
Pramel23 T G 4: 143,425,727 (GRCm39) N72T probably benign Het
Pus3 C A 9: 35,476,946 (GRCm39) Q248K probably benign Het
Sectm1a T A 11: 120,960,569 (GRCm39) Q82L possibly damaging Het
Sema3e A G 5: 14,282,208 (GRCm39) Y448C probably damaging Het
Slc12a4 A T 8: 106,675,774 (GRCm39) S584T probably benign Het
Slc25a40 T C 5: 8,499,613 (GRCm39) F249L probably benign Het
St3gal6 T A 16: 58,306,793 (GRCm39) N79I Het
Stxbp4 A T 11: 90,426,320 (GRCm39) I496K possibly damaging Het
Sulf1 A G 1: 12,878,118 (GRCm39) Y202C probably damaging Het
Swt1 A G 1: 151,299,256 (GRCm39) probably null Het
Tdrd6 T C 17: 43,936,305 (GRCm39) Y1581C possibly damaging Het
Tenm4 G C 7: 96,495,061 (GRCm39) G1163A probably damaging Het
Tlr4 A G 4: 66,758,518 (GRCm39) E437G probably benign Het
Txnrd2 A T 16: 18,256,315 (GRCm39) H101L probably damaging Het
Uba3 A T 6: 97,163,671 (GRCm39) V306E probably damaging Het
Unc5b T C 10: 60,604,152 (GRCm39) Q814R probably damaging Het
Vamp5 T G 6: 72,347,304 (GRCm39) E5A possibly damaging Het
Vmn1r69 T A 7: 10,314,064 (GRCm39) R222S probably damaging Het
Zfp507 G A 7: 35,494,446 (GRCm39) T199I probably benign Het
Zfyve19 T G 2: 119,041,718 (GRCm39) L95R probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACTCTGGTCAGCTCCCTATG -3'
(R):5'- GCTTGTGAACTGAGCGATG -3'

Sequencing Primer
(F):5'- AGAGCTCCAGTCACGAGTCTG -3'
(R):5'- GGAAATGAATCCCATTCCCTCC -3'
Posted On 2021-12-30