Incidental Mutation 'R6284:Atp6v0d2'
ID 508096
Institutional Source Beutler Lab
Gene Symbol Atp6v0d2
Ensembl Gene ENSMUSG00000028238
Gene Name ATPase, H+ transporting, lysosomal V0 subunit D2
Synonyms 1620401A02Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6284 (G1)
Quality Score 156.008
Status Validated
Chromosome 4
Chromosomal Location 19876838-19922566 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 19922605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029900]
AlphaFold Q80SY3
Predicted Effect probably null
Transcript: ENSMUST00000029900
SMART Domains Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238

DomainStartEndE-ValueType
Pfam:vATP-synt_AC39 16 346 6.2e-113 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Nop14 C T 5: 34,798,835 (GRCm39) probably null Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q probably damaging Het
Other mutations in Atp6v0d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Atp6v0d2 APN 4 19,881,436 (GRCm39) missense probably damaging 1.00
IGL01759:Atp6v0d2 APN 4 19,878,335 (GRCm39) missense probably damaging 0.98
IGL02006:Atp6v0d2 APN 4 19,878,325 (GRCm39) missense probably damaging 1.00
IGL02515:Atp6v0d2 APN 4 19,880,063 (GRCm39) missense possibly damaging 0.63
IGL03100:Atp6v0d2 APN 4 19,910,586 (GRCm39) critical splice donor site probably null
IGL02796:Atp6v0d2 UTSW 4 19,887,324 (GRCm39) missense probably damaging 1.00
R0083:Atp6v0d2 UTSW 4 19,880,001 (GRCm39) splice site probably benign
R0133:Atp6v0d2 UTSW 4 19,910,578 (GRCm39) splice site probably benign
R0371:Atp6v0d2 UTSW 4 19,880,033 (GRCm39) missense possibly damaging 0.92
R0845:Atp6v0d2 UTSW 4 19,880,055 (GRCm39) missense probably benign 0.02
R1279:Atp6v0d2 UTSW 4 19,878,298 (GRCm39) missense probably benign 0.02
R1541:Atp6v0d2 UTSW 4 19,910,645 (GRCm39) missense probably damaging 1.00
R1802:Atp6v0d2 UTSW 4 19,922,366 (GRCm39) critical splice donor site probably null
R3417:Atp6v0d2 UTSW 4 19,888,829 (GRCm39) unclassified probably benign
R3833:Atp6v0d2 UTSW 4 19,922,395 (GRCm39) missense probably damaging 1.00
R3884:Atp6v0d2 UTSW 4 19,910,677 (GRCm39) missense probably damaging 1.00
R5158:Atp6v0d2 UTSW 4 19,878,292 (GRCm39) missense probably damaging 1.00
R7290:Atp6v0d2 UTSW 4 19,880,060 (GRCm39) missense probably benign 0.44
R7341:Atp6v0d2 UTSW 4 19,887,330 (GRCm39) missense possibly damaging 0.46
R7832:Atp6v0d2 UTSW 4 19,922,400 (GRCm39) missense probably benign 0.18
R8231:Atp6v0d2 UTSW 4 19,881,451 (GRCm39) missense probably damaging 1.00
R8757:Atp6v0d2 UTSW 4 19,910,649 (GRCm39) missense probably benign
R8759:Atp6v0d2 UTSW 4 19,910,649 (GRCm39) missense probably benign
R8811:Atp6v0d2 UTSW 4 19,922,397 (GRCm39) missense probably benign 0.05
R9227:Atp6v0d2 UTSW 4 19,878,374 (GRCm39) missense probably benign
R9334:Atp6v0d2 UTSW 4 19,890,695 (GRCm39) missense probably damaging 1.00
R9378:Atp6v0d2 UTSW 4 19,922,377 (GRCm39) missense probably benign 0.02
R9716:Atp6v0d2 UTSW 4 19,890,834 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTAGGTTGACATAGTCCTGCTG -3'
(R):5'- CTGGCAAAACTGGGCATGAC -3'

Sequencing Primer
(F):5'- ACATAGTCCTGCTGAGTTAGGAG -3'
(R):5'- CATGACCTTGGACTGTGCAAG -3'
Posted On 2018-03-15