Incidental Mutation 'R8231:Atp6v0d2'
ID637135
Institutional Source Beutler Lab
Gene Symbol Atp6v0d2
Ensembl Gene ENSMUSG00000028238
Gene NameATPase, H+ transporting, lysosomal V0 subunit D2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R8231 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location19876841-19922605 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 19881451 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 214 (F214S)
Ref Sequence ENSEMBL: ENSMUSP00000029900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029900]
Predicted Effect probably damaging
Transcript: ENSMUST00000029900
AA Change: F214S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: F214S

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 346 6.2e-113 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T C 15: 8,219,027 Y1687H probably benign Het
4930548H24Rik T A 5: 31,486,207 C94S probably benign Het
Abcg8 C T 17: 84,692,785 R258C probably damaging Het
Acsf2 C G 11: 94,561,362 E451D probably benign Het
Adam34 A T 8: 43,651,622 S329T probably benign Het
Adamts16 A G 13: 70,777,480 I535T probably damaging Het
Btg4 A G 9: 51,116,568 T13A possibly damaging Het
Csmd1 A T 8: 16,697,923 S271T possibly damaging Het
Cul9 T C 17: 46,520,501 T1596A probably damaging Het
Cyp2a4 G A 7: 26,312,937 D382N probably benign Het
Dbh C T 2: 27,170,543 R244C probably benign Het
Dnajc2 T C 5: 21,761,691 K426R probably benign Het
Dock4 T A 12: 40,702,951 M428K possibly damaging Het
Duox2 A T 2: 122,289,563 M822K possibly damaging Het
E330009J07Rik A T 6: 40,418,612 H187Q probably benign Het
Golga5 T C 12: 102,472,299 V91A probably benign Het
Gpatch2l T C 12: 86,244,189 S49P probably damaging Het
Ints7 T A 1: 191,596,353 L246* probably null Het
Kntc1 A G 5: 123,782,896 T926A possibly damaging Het
Kyat1 T C 2: 30,191,966 T54A probably benign Het
Megf6 C G 4: 154,252,518 C359W probably damaging Het
Mlh3 A G 12: 85,260,798 probably null Het
Neb C A 2: 52,235,479 probably null Het
Nyap2 A T 1: 81,192,131 Q201L probably benign Het
Pibf1 T G 14: 99,186,561 H523Q probably benign Het
Piezo1 A G 8: 122,506,097 S133P Het
Pnmal2 T C 7: 16,946,590 C500R probably benign Het
Ptpra A G 2: 130,537,603 N359S probably damaging Het
Rce1 A T 19: 4,625,050 I112N probably damaging Het
Rmdn1 T C 4: 19,586,853 Y104H probably benign Het
Snx22 A T 9: 66,068,198 D96E probably benign Het
Sox5 G T 6: 144,028,288 Q245K probably damaging Het
Stat6 A G 10: 127,646,973 D21G possibly damaging Het
Tbc1d15 T C 10: 115,229,140 Y180C probably damaging Het
Tdrd6 T C 17: 43,622,135 T2058A probably damaging Het
Thbs4 A T 13: 92,774,844 V277E probably benign Het
Tmem255b A G 8: 13,454,225 D139G probably damaging Het
Ttc27 C A 17: 74,717,964 T18K probably benign Het
Zfp131 A G 13: 119,775,812 F337L probably damaging Het
Other mutations in Atp6v0d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Atp6v0d2 APN 4 19881436 missense probably damaging 1.00
IGL01759:Atp6v0d2 APN 4 19878335 missense probably damaging 0.98
IGL02006:Atp6v0d2 APN 4 19878325 missense probably damaging 1.00
IGL02515:Atp6v0d2 APN 4 19880063 missense possibly damaging 0.63
IGL03100:Atp6v0d2 APN 4 19910586 critical splice donor site probably null
IGL02796:Atp6v0d2 UTSW 4 19887324 missense probably damaging 1.00
R0083:Atp6v0d2 UTSW 4 19880001 splice site probably benign
R0133:Atp6v0d2 UTSW 4 19910578 splice site probably benign
R0371:Atp6v0d2 UTSW 4 19880033 missense possibly damaging 0.92
R0845:Atp6v0d2 UTSW 4 19880055 missense probably benign 0.02
R1279:Atp6v0d2 UTSW 4 19878298 missense probably benign 0.02
R1541:Atp6v0d2 UTSW 4 19910645 missense probably damaging 1.00
R1802:Atp6v0d2 UTSW 4 19922366 critical splice donor site probably null
R3417:Atp6v0d2 UTSW 4 19888829 unclassified probably benign
R3833:Atp6v0d2 UTSW 4 19922395 missense probably damaging 1.00
R3884:Atp6v0d2 UTSW 4 19910677 missense probably damaging 1.00
R5158:Atp6v0d2 UTSW 4 19878292 missense probably damaging 1.00
R6284:Atp6v0d2 UTSW 4 19922605 splice site probably null
R7290:Atp6v0d2 UTSW 4 19880060 missense probably benign 0.44
R7341:Atp6v0d2 UTSW 4 19887330 missense possibly damaging 0.46
R7832:Atp6v0d2 UTSW 4 19922400 missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TGCTGGTGAAGTCACTTACTCC -3'
(R):5'- AATTCTCCCTTTCAAGAGGAGTC -3'

Sequencing Primer
(F):5'- AGTCACTTACTCCATAATTATCTGCC -3'
(R):5'- TGGCTCCAGCTGCATATATAGCAG -3'
Posted On2020-07-13