Incidental Mutation 'R7578:Atp6v1b2'
ID 586586
Institutional Source Beutler Lab
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B2
Synonyms HO57, Atp6b2
MMRRC Submission 045663-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7578 (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 69556128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 268 (T268A)
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
AlphaFold P62814
Predicted Effect probably benign
Transcript: ENSMUST00000006435
AA Change: T268A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273
AA Change: T268A

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: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (66/68)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,120,343 (GRCm39) V165E probably damaging Het
1700025G04Rik T G 1: 151,796,841 (GRCm39) T75P probably benign Het
4930516K23Rik T C 7: 103,708,104 (GRCm39) E235G probably benign Het
Adam15 A G 3: 89,251,499 (GRCm39) C449R probably damaging Het
Adam24 T C 8: 41,133,294 (GRCm39) V254A probably benign Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Aldh1a1 A C 19: 20,595,366 (GRCm39) R98S probably damaging Het
Alg9 A G 9: 50,700,835 (GRCm39) I202V probably benign Het
Anks1b G A 10: 89,885,789 (GRCm39) E162K probably damaging Het
Atxn1 C T 13: 45,720,834 (GRCm39) V354I probably benign Het
B3galt1 A G 2: 67,948,896 (GRCm39) T204A probably damaging Het
Catsperb T A 12: 101,554,544 (GRCm39) I746K probably benign Het
Cdh23 G A 10: 60,243,186 (GRCm39) T1063M probably benign Het
Cherp G A 8: 73,218,102 (GRCm39) R543C Het
Cldn20 A G 17: 3,583,274 (GRCm39) D149G probably damaging Het
Clk2 A G 3: 89,083,807 (GRCm39) Q474R probably benign Het
Cp A G 3: 20,043,262 (GRCm39) T1017A possibly damaging Het
Cyp2c39 T C 19: 39,499,400 (GRCm39) L29P probably damaging Het
Ebf3 C T 7: 136,915,261 (GRCm39) V93M probably damaging Het
Eef1akmt1 T A 14: 57,787,328 (GRCm39) M183L probably damaging Het
Fhip1a G T 3: 85,573,205 (GRCm39) L915I probably damaging Het
Filip1l A G 16: 57,333,645 (GRCm39) E146G probably damaging Het
Fpr-rs3 T C 17: 20,844,293 (GRCm39) S283G possibly damaging Het
Fras1 A T 5: 96,832,296 (GRCm39) Y1543F probably damaging Het
Garin2 T C 12: 78,762,275 (GRCm39) probably null Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gjd3 A G 11: 98,873,301 (GRCm39) V181A probably damaging Het
Gm49368 T A 7: 127,711,430 (GRCm39) C711* probably null Het
Gtf3c2 A G 5: 31,330,341 (GRCm39) S210P probably benign Het
Herc2 A G 7: 55,784,548 (GRCm39) Y1404C probably benign Het
Il22ra2 T A 10: 19,507,372 (GRCm39) D128E probably benign Het
Itgav T A 2: 83,578,219 (GRCm39) D113E probably benign Het
Kcnd3 A G 3: 105,366,933 (GRCm39) M268V probably benign Het
Kirrel3 G T 9: 34,850,408 (GRCm39) G19V probably damaging Het
Klf17 T G 4: 117,617,916 (GRCm39) Y147S possibly damaging Het
Leng1 C T 7: 3,668,382 (GRCm39) R22H probably damaging Het
Lysmd4 T A 7: 66,876,037 (GRCm39) Y233* probably null Het
Lyzl6 A G 11: 103,525,832 (GRCm39) V96A probably benign Het
Mki67 T C 7: 135,302,644 (GRCm39) T797A possibly damaging Het
Nuf2 G T 1: 169,332,097 (GRCm39) H399Q probably benign Het
Nuggc T C 14: 65,885,623 (GRCm39) V766A probably damaging Het
Oas1c A T 5: 120,940,244 (GRCm39) D307E probably damaging Het
Odad2 A T 18: 7,211,593 (GRCm39) D760E probably benign Het
Or10aa3 T A 1: 173,878,266 (GRCm39) M109K possibly damaging Het
Or6c5b T C 10: 129,245,544 (GRCm39) I103T probably damaging Het
P4ha3 T C 7: 99,943,121 (GRCm39) Y169H probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkhd1 T C 1: 20,417,585 (GRCm39) D2522G probably damaging Het
Prickle2 T C 6: 92,388,271 (GRCm39) D433G probably benign Het
Ptcd3 A G 6: 71,885,691 (GRCm39) S12P probably benign Het
Ptpn23 T A 9: 110,216,676 (GRCm39) Q1060L probably benign Het
Rai14 G T 15: 10,574,914 (GRCm39) N710K probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Satb2 A G 1: 56,910,943 (GRCm39) V234A probably benign Het
Scg2 T C 1: 79,414,612 (GRCm39) Q37R probably damaging Het
Slc35e3 A T 10: 117,576,484 (GRCm39) S230T probably damaging Het
Slc39a2 T C 14: 52,132,873 (GRCm39) V272A probably damaging Het
Smg7 T A 1: 152,721,181 (GRCm39) Y677F probably damaging Het
Spinkl A G 18: 44,301,213 (GRCm39) Y42H probably damaging Het
Srsf6 T C 2: 162,774,782 (GRCm39) F102L probably benign Het
Sstr3 T C 15: 78,424,717 (GRCm39) E10G probably benign Het
Tekt3 A T 11: 62,985,486 (GRCm39) I431F probably damaging Het
Trio C T 15: 27,855,025 (GRCm39) R778H possibly damaging Het
Ush2a T A 1: 188,282,110 (GRCm39) V1875D probably damaging Het
Vmn2r29 A C 7: 7,234,441 (GRCm39) I815S probably damaging Het
Vmn2r78 A T 7: 86,603,552 (GRCm39) K577* probably null Het
Vps26c A C 16: 94,299,928 (GRCm39) N275K probably damaging Het
Yes1 G A 5: 32,802,430 (GRCm39) R115Q 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
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'- GGAAGAGAGCTTGACTGTTTAAAAC -3'
(R):5'- AGTGATGATCCGCTCAATGC -3'

Sequencing Primer
(F):5'- ATTTAGATTTATAGCTTGGCCTTCC -3'
(R):5'- TGATCCGCTCAATGCTGAAAG -3'
Posted On 2019-10-24