Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Atp6v0d2'

508096

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0d2

Ensembl Gene

ENSMUSG00000028238

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit D2

Synonyms

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

Chromosomal Location

19876841-19922605 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 19922605 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454 (GRCm38)	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410 (GRCm38)	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507 (GRCm38)	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568 (GRCm38)	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802 (GRCm38)	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376 (GRCm38)		probably null	Het
Atp5a1	T	A	18: 77,778,468 (GRCm38)	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059 (GRCm38)	I20V	probably benign	Het
Bclaf1	T	G	10: 20,322,160 (GRCm38)		probably null	Het
Bod1l	A	G	5: 41,818,787 (GRCm38)	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282 (GRCm38)	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437 (GRCm38)	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653 (GRCm38)		probably null	Het
Cdh26	G	C	2: 178,449,884 (GRCm38)	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742 (GRCm38)	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796 (GRCm38)	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674 (GRCm38)	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227 (GRCm38)		probably null	Het
Cul5	G	A	9: 53,623,735 (GRCm38)	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085 (GRCm38)	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041 (GRCm38)	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684 (GRCm38)	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688 (GRCm38)	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502 (GRCm38)	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448 (GRCm38)	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278 (GRCm38)	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393 (GRCm38)	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281 (GRCm38)	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197 (GRCm38)	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886 (GRCm38)	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096 (GRCm38)	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104 (GRCm38)	C41G	unknown	Het
Lyar	T	A	5: 38,225,995 (GRCm38)	W77R	probably damaging	Het
March11	G	A	15: 26,409,346 (GRCm38)	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787 (GRCm38)	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892 (GRCm38)	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925 (GRCm38)	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491 (GRCm38)		probably null	Het
Oprl1	T	A	2: 181,717,991 (GRCm38)		probably benign	Het
Pacsin1	T	C	17: 27,708,504 (GRCm38)	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296 (GRCm38)	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301 (GRCm38)	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984 (GRCm38)	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618 (GRCm38)	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417 (GRCm38)	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187 (GRCm38)	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860 (GRCm38)	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921 (GRCm38)		probably null	Het
Stxbp5	A	C	10: 9,767,179 (GRCm38)	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187 (GRCm38)	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583 (GRCm38)	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099 (GRCm38)	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335 (GRCm38)	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809 (GRCm38)	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600 (GRCm38)	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962 (GRCm38)	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833 (GRCm38)	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407 (GRCm38)	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084 (GRCm38)	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629 (GRCm38)	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566 (GRCm38)	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503 (GRCm38)	L446Q	probably damaging	Het

Other mutations in Atp6v0d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v0d2	APN	4	19,881,436 (GRCm38)	missense	probably damaging	1.00
IGL01759:Atp6v0d2	APN	4	19,878,335 (GRCm38)	missense	probably damaging	0.98
IGL02006:Atp6v0d2	APN	4	19,878,325 (GRCm38)	missense	probably damaging	1.00
IGL02515:Atp6v0d2	APN	4	19,880,063 (GRCm38)	missense	possibly damaging	0.63
IGL03100:Atp6v0d2	APN	4	19,910,586 (GRCm38)	critical splice donor site	probably null
IGL02796:Atp6v0d2	UTSW	4	19,887,324 (GRCm38)	missense	probably damaging	1.00
R0083:Atp6v0d2	UTSW	4	19,880,001 (GRCm38)	splice site	probably benign
R0133:Atp6v0d2	UTSW	4	19,910,578 (GRCm38)	splice site	probably benign
R0371:Atp6v0d2	UTSW	4	19,880,033 (GRCm38)	missense	possibly damaging	0.92
R0845:Atp6v0d2	UTSW	4	19,880,055 (GRCm38)	missense	probably benign	0.02
R1279:Atp6v0d2	UTSW	4	19,878,298 (GRCm38)	missense	probably benign	0.02
R1541:Atp6v0d2	UTSW	4	19,910,645 (GRCm38)	missense	probably damaging	1.00
R1802:Atp6v0d2	UTSW	4	19,922,366 (GRCm38)	critical splice donor site	probably null
R3417:Atp6v0d2	UTSW	4	19,888,829 (GRCm38)	unclassified	probably benign
R3833:Atp6v0d2	UTSW	4	19,922,395 (GRCm38)	missense	probably damaging	1.00
R3884:Atp6v0d2	UTSW	4	19,910,677 (GRCm38)	missense	probably damaging	1.00
R5158:Atp6v0d2	UTSW	4	19,878,292 (GRCm38)	missense	probably damaging	1.00
R7290:Atp6v0d2	UTSW	4	19,880,060 (GRCm38)	missense	probably benign	0.44
R7341:Atp6v0d2	UTSW	4	19,887,330 (GRCm38)	missense	possibly damaging	0.46
R7832:Atp6v0d2	UTSW	4	19,922,400 (GRCm38)	missense	probably benign	0.18
R8231:Atp6v0d2	UTSW	4	19,881,451 (GRCm38)	missense	probably damaging	1.00
R8757:Atp6v0d2	UTSW	4	19,910,649 (GRCm38)	missense	probably benign
R8759:Atp6v0d2	UTSW	4	19,910,649 (GRCm38)	missense	probably benign
R8811:Atp6v0d2	UTSW	4	19,922,397 (GRCm38)	missense	probably benign	0.05
R9227:Atp6v0d2	UTSW	4	19,878,374 (GRCm38)	missense	probably benign
R9334:Atp6v0d2	UTSW	4	19,890,695 (GRCm38)	missense	probably damaging	1.00
R9378:Atp6v0d2	UTSW	4	19,922,377 (GRCm38)	missense	probably benign	0.02
R9716:Atp6v0d2	UTSW	4	19,890,834 (GRCm38)	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