Incidental Mutation 'R7852:Atp6v1b1'
ID 606987
Institutional Source Beutler Lab
Gene Symbol Atp6v1b1
Ensembl Gene ENSMUSG00000006269
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B1
Synonyms lysosomal 56/58kDa, D630030L16Rik, Vpp-3, Vpp3, D630039P21Rik, Atp6b1
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 83719999-83735837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83729452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 121 (M121L)
Ref Sequence ENSEMBL: ENSMUSP00000006431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000205763] [ENSMUST00000206911]
AlphaFold Q91YH6
Predicted Effect possibly damaging
Transcript: ENSMUST00000006431
AA Change: M121L

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: M121L

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 44 110 1.9e-14 PFAM
Pfam:ATP-synt_ab 167 393 9.4e-68 PFAM
Pfam:ATP-synt_ab_C 410 508 6.9e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205763
AA Change: M130L

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000206911
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Kif12 G C 4: 63,086,226 (GRCm39) P374A probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown Het
Other mutations in Atp6v1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Atp6v1b1 APN 6 83,726,897 (GRCm39) splice site probably benign
IGL02005:Atp6v1b1 APN 6 83,730,896 (GRCm39) unclassified probably benign
IGL02085:Atp6v1b1 APN 6 83,730,897 (GRCm39) unclassified probably benign
IGL02100:Atp6v1b1 APN 6 83,735,426 (GRCm39) missense probably damaging 1.00
IGL02267:Atp6v1b1 APN 6 83,733,891 (GRCm39) missense probably benign 0.44
IGL02507:Atp6v1b1 APN 6 83,733,837 (GRCm39) missense possibly damaging 0.95
IGL02563:Atp6v1b1 APN 6 83,732,433 (GRCm39) missense probably benign 0.14
IGL03144:Atp6v1b1 APN 6 83,735,333 (GRCm39) missense probably benign 0.02
R0391:Atp6v1b1 UTSW 6 83,733,903 (GRCm39) missense possibly damaging 0.93
R0420:Atp6v1b1 UTSW 6 83,729,826 (GRCm39) unclassified probably benign
R0458:Atp6v1b1 UTSW 6 83,729,390 (GRCm39) missense probably damaging 1.00
R0561:Atp6v1b1 UTSW 6 83,730,793 (GRCm39) missense probably damaging 1.00
R0947:Atp6v1b1 UTSW 6 83,730,814 (GRCm39) missense probably damaging 1.00
R1241:Atp6v1b1 UTSW 6 83,733,526 (GRCm39) unclassified probably benign
R1417:Atp6v1b1 UTSW 6 83,730,862 (GRCm39) missense probably damaging 1.00
R1447:Atp6v1b1 UTSW 6 83,734,924 (GRCm39) missense possibly damaging 0.46
R1710:Atp6v1b1 UTSW 6 83,735,372 (GRCm39) missense probably benign
R1722:Atp6v1b1 UTSW 6 83,720,074 (GRCm39) missense possibly damaging 0.68
R1862:Atp6v1b1 UTSW 6 83,726,834 (GRCm39) critical splice acceptor site probably null
R2086:Atp6v1b1 UTSW 6 83,734,834 (GRCm39) missense probably benign 0.10
R3433:Atp6v1b1 UTSW 6 83,720,074 (GRCm39) missense possibly damaging 0.81
R4193:Atp6v1b1 UTSW 6 83,720,085 (GRCm39) missense probably benign 0.01
R4606:Atp6v1b1 UTSW 6 83,729,443 (GRCm39) missense probably damaging 1.00
R5901:Atp6v1b1 UTSW 6 83,735,339 (GRCm39) missense possibly damaging 0.87
R6156:Atp6v1b1 UTSW 6 83,735,115 (GRCm39) missense probably damaging 1.00
R6187:Atp6v1b1 UTSW 6 83,729,377 (GRCm39) missense probably damaging 1.00
R6717:Atp6v1b1 UTSW 6 83,730,632 (GRCm39) splice site probably null
R6727:Atp6v1b1 UTSW 6 83,728,857 (GRCm39) unclassified probably benign
R6952:Atp6v1b1 UTSW 6 83,731,792 (GRCm39) missense probably damaging 1.00
R7753:Atp6v1b1 UTSW 6 83,729,440 (GRCm39) missense probably benign 0.02
R8421:Atp6v1b1 UTSW 6 83,730,791 (GRCm39) missense probably damaging 0.99
R8840:Atp6v1b1 UTSW 6 83,733,845 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATGTCCCAGAGAACACCCTG -3'
(R):5'- GGTCACTTATCAGAGAATCAGGC -3'

Sequencing Primer
(F):5'- TGCTCAGAGCTGCACACTG -3'
(R):5'- GTAAGGAAGTGCTTAGCCATCCC -3'
Posted On 2019-12-20