Incidental Mutation 'R6156:Atp6v1b1'
ID 489576
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 044303-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83719999-83735837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 83735115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 423 (G423R)
Ref Sequence ENSEMBL: ENSMUSP00000006431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000014891] [ENSMUST00000205763] [ENSMUST00000206496]
AlphaFold Q91YH6
Predicted Effect probably damaging
Transcript: ENSMUST00000006431
AA Change: G423R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: G423R

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 probably benign
Transcript: ENSMUST00000014891
SMART Domains Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
ANK 110 140 1.15e0 SMART
ANK 144 177 1.63e0 SMART
ANK 181 210 1.78e-6 SMART
Blast:ANK 215 243 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190077
Predicted Effect probably benign
Transcript: ENSMUST00000205763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206652
Predicted Effect probably benign
Transcript: ENSMUST00000206496
Meta Mutation Damage Score 0.9002 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign 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
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
R7852:Atp6v1b1 UTSW 6 83,729,452 (GRCm39) missense possibly damaging 0.47
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'- ACTGATGAAGTCGGCCATAGG -3'
(R):5'- AAGGAGCGTGAGAACCTCTG -3'

Sequencing Primer
(F):5'- AGATGTCTCCAACCAGCTGG -3'
(R):5'- TGAGAACCTCTGGCCCAGAAG -3'
Posted On 2017-10-10