Mutagenetix > Incidental Mutation

Incidental Mutation 'R5158:Atp6v0d2'

396818

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0d2

Ensembl Gene

ENSMUSG00000028238

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit D2

Synonyms

1620401A02Rik

MMRRC Submission

042740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5158 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19876838-19922566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19878292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 327 (N327S)

Ref Sequence

ENSEMBL: ENSMUSP00000029900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029900]

AlphaFold

Q80SY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029900
AA Change: N327S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: N327S

Domain	Start	End	E-Value	Type
Pfam:vATP-synt_AC39	16	346	6.2e-113	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.9%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	C	T	17: 45,825,755 (GRCm39)	T357I	probably benign	Het
Abca14	A	T	7: 119,852,652 (GRCm39)	R872S	probably benign	Het
Adnp2	A	G	18: 80,180,758 (GRCm39)	Y47H	probably damaging	Het
Ccdc190	A	G	1: 169,760,578 (GRCm39)	R69G	probably benign	Het
Cfap54	T	C	10: 92,901,059 (GRCm39)	D213G	probably damaging	Het
Clcn4	G	A	7: 7,294,618 (GRCm39)	T381I	possibly damaging	Het
Cobl	A	G	11: 12,206,198 (GRCm39)	F477S	possibly damaging	Het
Ctdspl2	T	A	2: 121,811,774 (GRCm39)	V205E	probably benign	Het
Dhx37	A	T	5: 125,492,216 (GRCm39)	Y1128N	probably damaging	Het
Ehmt2	G	A	17: 35,130,640 (GRCm39)	E1085K	probably damaging	Het
Fam149a	T	G	8: 45,803,472 (GRCm39)	I340L	possibly damaging	Het
Fut9	T	A	4: 25,620,731 (GRCm39)	I28F	probably benign	Het
Il36g	T	A	2: 24,082,798 (GRCm39)	I191K	probably damaging	Het
Iqgap1	T	C	7: 80,392,816 (GRCm39)	N716D	probably benign	Het
Itgb7	T	C	15: 102,125,464 (GRCm39)	D672G	probably benign	Het
Kat6b	A	G	14: 21,720,054 (GRCm39)	M1469V	possibly damaging	Het
Kif3a	T	C	11: 53,479,578 (GRCm39)	F430L	probably benign	Het
L3mbtl3	T	C	10: 26,179,586 (GRCm39)	D523G	unknown	Het
Mcf2l	A	G	8: 13,059,715 (GRCm39)	Q736R	probably damaging	Het
Mpl	T	G	4: 118,313,881 (GRCm39)	D128A	probably damaging	Het
Myom3	T	A	4: 135,492,897 (GRCm39)	C149S	probably damaging	Het
N4bp2	A	G	5: 65,965,805 (GRCm39)	I1285V	probably damaging	Het
Nalcn	T	C	14: 123,753,149 (GRCm39)	Q279R	probably damaging	Het
Ndc1	T	G	4: 107,232,362 (GRCm39)	S182R	probably damaging	Het
Ngf	A	T	3: 102,427,445 (GRCm39)	M65L	possibly damaging	Het
Or2n1	T	A	17: 38,486,345 (GRCm39)	Y123*	probably null	Het
Pigb	T	C	9: 72,929,683 (GRCm39)	Y300C	probably damaging	Het
Pla2g2a	T	G	4: 138,560,595 (GRCm39)	*69G	probably null	Het
Ppp1r12b	T	C	1: 134,814,166 (GRCm39)	E379G	probably damaging	Het
Ptdss2	T	C	7: 140,731,684 (GRCm39)	F164S	probably benign	Het
Ptprc	T	C	1: 138,102,822 (GRCm39)	T2A	possibly damaging	Het
Ptprq	T	A	10: 107,370,565 (GRCm39)	N2042I	probably damaging	Het
Rdh10	A	T	1: 16,178,221 (GRCm39)	R164S	probably damaging	Het
Sec31a	A	T	5: 100,541,180 (GRCm39)	I309N	probably damaging	Het
Skint5	A	T	4: 113,599,409 (GRCm39)	I710N	unknown	Het
Slc25a30	A	T	14: 76,008,956 (GRCm39)	L26Q	probably damaging	Het
Sptan1	G	A	2: 29,868,455 (GRCm39)	V34I	probably damaging	Het
Sult1e1	A	T	5: 87,735,453 (GRCm39)	I75N	probably damaging	Het
Trpa1	A	G	1: 14,951,885 (GRCm39)	V938A	probably benign	Het
Vps16	C	T	2: 130,283,199 (GRCm39)	R531C	probably damaging	Het
Zbtb22	C	T	17: 34,137,423 (GRCm39)	H523Y	probably damaging	Het
Zfp39	G	A	11: 58,780,671 (GRCm39)	T697M	possibly damaging	Het

Other mutations in Atp6v0d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6284:Atp6v0d2	UTSW	4	19,922,605 (GRCm39)	splice site	probably null
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'- AAGTTCTGTTTACTGGGCTTCC -3'
(R):5'- CAAATAGGCACCACTGTAGCAG -3'

Sequencing Primer
(F):5'- GGCTTCCAGTGGACATGTAG -3'
(R):5'- CTGTAGCAGAAGCCATTTCTAGC -3'

Posted On

2016-06-21