Mutagenetix > Incidental Mutation

Incidental Mutation 'R4888:Atp10a'

377093

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

042493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R4888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58435055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 314 (V314A)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168747]

AlphaFold

O54827

Predicted Effect

probably damaging
Transcript: ENSMUST00000168747
AA Change: V314A

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

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: V314A

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
Pfam:PhoLip_ATPase_N	55	114	5.2e-23	PFAM
Pfam:E1-E2_ATPase	120	393	6.6e-10	PFAM
low complexity region	633	643	N/A	INTRINSIC
Pfam:Cation_ATPase	685	791	1.5e-7	PFAM
Pfam:HAD	697	1054	2.1e-12	PFAM
Pfam:PhoLip_ATPase_C	1071	1316	1.1e-76	PFAM
low complexity region	1458	1477	N/A	INTRINSIC

Meta Mutation Damage Score

0.2576

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (150/151)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene at the distal end of the p^23DFiOD deletion may be responsible for the obesity phenotypes associated with that deletion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931403M11Rik	C	A	14: 24,671,419 (GRCm39)		noncoding transcript	Het
Abca7	A	G	10: 79,838,562 (GRCm39)	K612R	probably damaging	Het
Adamtsl3	T	C	7: 82,223,822 (GRCm39)	V275A	possibly damaging	Het
Afg3l1	G	A	8: 124,215,065 (GRCm39)		probably null	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Alcam	T	A	16: 52,089,176 (GRCm39)	H508L	probably benign	Het
Ankrd45	G	A	1: 160,982,942 (GRCm39)	R151H	probably damaging	Het
Aqr	G	A	2: 113,980,990 (GRCm39)	L264F	probably damaging	Het
Arfgef2	G	A	2: 166,677,533 (GRCm39)	A53T	probably damaging	Het
Arhgap30	A	G	1: 171,236,880 (GRCm39)	T1085A	probably benign	Het
Bdp1	T	C	13: 100,187,627 (GRCm39)	D1580G	probably benign	Het
Btbd17	T	A	11: 114,684,917 (GRCm39)	T41S	possibly damaging	Het
Cacna1c	T	C	6: 118,728,400 (GRCm39)	N378S	probably damaging	Het
Camsap1	G	T	2: 25,825,562 (GRCm39)	Q1375K	probably benign	Het
Catsper2	G	T	2: 121,227,604 (GRCm39)		probably null	Het
Cblif	A	G	19: 11,729,583 (GRCm39)	T181A	probably benign	Het
Ccar1	A	G	10: 62,588,997 (GRCm39)	S829P	unknown	Het
Ccdc180	T	C	4: 45,909,308 (GRCm39)	L492P	probably damaging	Het
Ccser2	A	T	14: 36,662,343 (GRCm39)	N280K	probably damaging	Het
Cd37	T	C	7: 44,883,359 (GRCm39)	D271G	probably damaging	Het
Cdcp1	G	A	9: 123,011,194 (GRCm39)		probably benign	Het
Cemip2	T	C	19: 21,833,528 (GRCm39)	V1322A	probably benign	Het
Cep85	T	A	4: 133,892,062 (GRCm39)		probably benign	Het
Cfi	C	T	3: 129,666,726 (GRCm39)	P483L	probably damaging	Het
Csmd1	A	G	8: 15,945,674 (GRCm39)		probably benign	Het
Cytl1	G	T	5: 37,892,918 (GRCm39)	L9F	unknown	Het
Defb26	T	C	2: 152,350,085 (GRCm39)	E65G	possibly damaging	Het
Degs1	G	A	1: 182,104,370 (GRCm39)	T305I	probably damaging	Het
Dnttip2	T	G	3: 122,070,241 (GRCm39)	C485W	probably damaging	Het
Ecel1	G	A	1: 87,076,449 (GRCm39)		probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Elmo2	A	T	2: 165,137,209 (GRCm39)	C562S	probably benign	Het
Etl4	T	A	2: 20,344,922 (GRCm39)		probably null	Het
F2r	A	C	13: 95,740,905 (GRCm39)	V210G	probably damaging	Het
Fam171a1	T	A	2: 3,224,546 (GRCm39)	V179E	probably damaging	Het
Fmod	G	T	1: 133,967,977 (GRCm39)	V6F	possibly damaging	Het
Foxr2	A	G	X: 151,913,312 (GRCm39)	Q61R	probably damaging	Het
Gabra4	G	A	5: 71,729,546 (GRCm39)	H76Y	probably benign	Het
Gck	A	T	11: 5,859,150 (GRCm39)	M139K	possibly damaging	Het
Gm10192	C	G	4: 97,071,345 (GRCm39)	S20T	probably null	Het
Gm44501	T	C	17: 40,887,515 (GRCm39)	L11P	unknown	Het
Gm572	T	C	4: 148,751,302 (GRCm39)		probably null	Het
Gnas	A	G	2: 174,139,882 (GRCm39)	K17R	possibly damaging	Het
Grm2	T	A	9: 106,527,865 (GRCm39)	S340C	probably damaging	Het
Gsc	T	A	12: 104,438,274 (GRCm39)	H198L	probably damaging	Het
H2-Q3	A	T	17: 35,578,424 (GRCm39)		noncoding transcript	Het
H4c1	T	C	13: 23,944,935 (GRCm39)	D69G	probably damaging	Het
Hivep3	A	G	4: 119,980,131 (GRCm39)	E1723G	probably damaging	Het
Hk3	A	T	13: 55,154,405 (GRCm39)	L757Q	probably damaging	Het
Homer2	A	T	7: 81,299,311 (GRCm39)	D51E	probably benign	Het
Ier3ip1	T	A	18: 77,027,227 (GRCm39)		probably benign	Het
Itch	T	A	2: 155,059,897 (GRCm39)		probably null	Het
Kalrn	T	A	16: 33,991,700 (GRCm39)	Q974L	probably damaging	Het
Kirrel3	G	T	9: 34,924,601 (GRCm39)	G296W	probably damaging	Het
Klhl17	A	G	4: 156,315,082 (GRCm39)	V525A	probably benign	Het
Klhl9	T	C	4: 88,640,182 (GRCm39)	K20E	probably benign	Het
Kmt2a	G	T	9: 44,732,977 (GRCm39)		probably benign	Het
Krt17	C	A	11: 100,147,305 (GRCm39)	V409L	probably benign	Het
Lmx1b	T	C	2: 33,454,802 (GRCm39)	N322S	probably benign	Het
Lrrc63	G	C	14: 75,363,406 (GRCm39)	P242A	probably benign	Het
Ltk	T	C	2: 119,583,708 (GRCm39)	N256D	probably damaging	Het
Map3k19	T	A	1: 127,745,470 (GRCm39)	E1328V	probably damaging	Het
Map4k2	C	T	19: 6,394,033 (GRCm39)	A280V	probably benign	Het
Micall1	C	T	15: 79,016,048 (GRCm39)	R802*	probably null	Het
Mmp14	A	G	14: 54,673,662 (GRCm39)	R109G	probably damaging	Het
Mmp27	A	T	9: 7,581,369 (GRCm39)	H544L	probably benign	Het
Mpeg1	A	G	19: 12,440,434 (GRCm39)	T631A	probably damaging	Het
Mpnd	A	G	17: 56,318,641 (GRCm39)	M217V	probably benign	Het
Mrc2	T	C	11: 105,232,034 (GRCm39)	V862A	probably damaging	Het
Mug2	T	A	6: 122,058,154 (GRCm39)	S1239T	probably damaging	Het
Myb	T	A	10: 21,002,137 (GRCm39)	M616L	probably benign	Het
Myo18b	A	T	5: 113,022,346 (GRCm39)		probably benign	Het
Myo1c	C	A	11: 75,560,053 (GRCm39)	T703N	probably damaging	Het
Myt1l	T	G	12: 29,936,138 (GRCm39)	C909G	unknown	Het
Nbea	T	C	3: 55,912,776 (GRCm39)	S1004G	possibly damaging	Het
Neb	T	C	2: 52,186,319 (GRCm39)	N918D	probably benign	Het
Nrtn	T	C	17: 57,058,636 (GRCm39)	T122A	probably damaging	Het
Nsd3	A	T	8: 26,188,939 (GRCm39)	S1042C	probably damaging	Het
Ntmt2	A	T	1: 163,530,633 (GRCm39)	C269S	probably benign	Het
Nvl	A	G	1: 180,945,191 (GRCm39)	L461S	probably damaging	Het
Onecut2	A	T	18: 64,473,998 (GRCm39)	H183L	possibly damaging	Het
Or13p5	A	C	4: 118,591,885 (GRCm39)	H53P	probably benign	Het
Or2h2	G	A	17: 37,396,343 (GRCm39)	T238I	probably damaging	Het
Or4d10	C	G	19: 12,051,679 (GRCm39)	G106R	probably damaging	Het
Or52e4	A	G	7: 104,705,689 (GRCm39)	T79A	possibly damaging	Het
Or5c1	T	G	2: 37,222,601 (GRCm39)	F281V	probably damaging	Het
Or6c1b	A	C	10: 129,273,248 (GRCm39)	D189A	possibly damaging	Het
Or6z5	A	T	7: 6,477,612 (GRCm39)	I168F	probably damaging	Het
Pcdhb21	G	T	18: 37,648,130 (GRCm39)	V420F	possibly damaging	Het
Pcdhb9	G	A	18: 37,536,286 (GRCm39)	G760D	probably benign	Het
Pglyrp2	G	A	17: 32,637,771 (GRCm39)	P86S	probably benign	Het
Phyhip	T	A	14: 70,704,765 (GRCm39)	V328E	probably damaging	Het
Pitpnb	A	T	5: 111,530,862 (GRCm39)	K218N	possibly damaging	Het
Pitrm1	A	G	13: 6,628,596 (GRCm39)	D963G	probably damaging	Het
Pmfbp1	A	G	8: 110,258,792 (GRCm39)	Y699C	probably damaging	Het
Pmpcb	T	A	5: 21,945,660 (GRCm39)		probably benign	Het
Polg	A	T	7: 79,114,353 (GRCm39)	W203R	probably damaging	Het
Pramel22	A	G	4: 143,380,971 (GRCm39)	S351P	probably benign	Het
Prss41	A	T	17: 24,055,977 (GRCm39)	M252K	probably benign	Het
Prss46	A	T	9: 110,673,618 (GRCm39)	M1L	possibly damaging	Het
Rimklb	T	C	6: 122,441,051 (GRCm39)		probably null	Het
Rngtt	T	C	4: 33,500,335 (GRCm39)	I556T	unknown	Het
Rock1	A	C	18: 10,122,698 (GRCm39)	D374E	probably benign	Het
Rspry1	C	A	8: 95,385,417 (GRCm39)	H450N	probably benign	Het
Rusc2	T	C	4: 43,423,942 (GRCm39)	V1032A	probably damaging	Het
Sacs	A	G	14: 61,449,647 (GRCm39)	R3898G	probably damaging	Het
Scnn1b	A	T	7: 121,502,110 (GRCm39)	H256L	probably benign	Het
Sh3gl2	T	A	4: 85,297,494 (GRCm39)	H157Q	probably benign	Het
Sipa1l1	C	A	12: 82,389,107 (GRCm39)	S444R	probably damaging	Het
Sntg1	T	A	1: 8,433,818 (GRCm39)	I478F	probably damaging	Het
Spata31e2	A	G	1: 26,722,628 (GRCm39)	Y851H	probably benign	Het
Sptb	G	T	12: 76,655,811 (GRCm39)	L1424M	probably benign	Het
Sry	T	A	Y: 2,663,105 (GRCm39)	H185L	unknown	Het
Stox2	T	G	8: 47,656,198 (GRCm39)	T93P	probably damaging	Het
Tatdn2	T	A	6: 113,681,566 (GRCm39)	F472Y	possibly damaging	Het
Tefm	A	T	11: 80,031,185 (GRCm39)	V17D	possibly damaging	Het
Tekt2	G	T	4: 126,218,460 (GRCm39)	T70N	probably benign	Het
Ticam1	T	C	17: 56,578,642 (GRCm39)	D151G	probably damaging	Het
Tmem63c	A	G	12: 87,136,139 (GRCm39)	E785G	probably damaging	Het
Tnmd	A	T	X: 132,765,551 (GRCm39)	N219I	probably benign	Het
Ttc14	T	A	3: 33,861,024 (GRCm39)	L407*	probably null	Het
Ttll7	T	C	3: 146,599,932 (GRCm39)	M1T	probably null	Het
Ttn	T	A	2: 76,746,835 (GRCm39)		probably null	Het
Uchl1	T	C	5: 66,833,780 (GRCm39)	M12T	probably benign	Het
Uggt2	A	T	14: 119,315,062 (GRCm39)		probably null	Het
Uggt2	T	C	14: 119,286,665 (GRCm39)	T224A	probably damaging	Het
Umodl1	A	G	17: 31,218,175 (GRCm39)	E1254G	probably damaging	Het
Unc5d	A	G	8: 29,156,927 (GRCm39)	F773L	probably benign	Het
Unc80	C	A	1: 66,683,606 (GRCm39)	P2216Q	probably damaging	Het
Usp40	T	A	1: 87,913,923 (GRCm39)		probably null	Het
Vmn1r117	A	T	7: 20,617,421 (GRCm39)	M209K	probably damaging	Het
Vmn2r44	A	T	7: 8,380,985 (GRCm39)	W303R	probably benign	Het
Wnk2	G	A	13: 49,224,478 (GRCm39)	R268C	probably damaging	Het
Wnt2	T	C	6: 18,023,125 (GRCm39)	K175E	possibly damaging	Het
Xkr6	T	C	14: 64,056,953 (GRCm39)	V288A	unknown	Het
Zfp125	A	G	12: 20,950,459 (GRCm39)		noncoding transcript	Het
Zfp512b	A	C	2: 181,228,856 (GRCm39)	V703G	probably damaging	Het
Zglp1	A	T	9: 20,973,957 (GRCm39)	I243N	probably benign	Het
Zgpat	T	C	2: 181,020,651 (GRCm39)	S275P	probably benign	Het

Other mutations in Atp10a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00649:Atp10a	APN	7	58,444,230 (GRCm39)	missense	probably benign	0.06
IGL00973:Atp10a	APN	7	58,457,218 (GRCm39)	missense	probably damaging	1.00
IGL00984:Atp10a	APN	7	58,308,489 (GRCm39)	missense	probably damaging	1.00
IGL01086:Atp10a	APN	7	58,474,066 (GRCm39)	missense	probably damaging	0.96
IGL01296:Atp10a	APN	7	58,463,373 (GRCm39)	missense	probably benign	0.02
IGL01731:Atp10a	APN	7	58,447,310 (GRCm39)	missense	probably benign	0.16
IGL02081:Atp10a	APN	7	58,477,604 (GRCm39)	missense	possibly damaging	0.62
IGL02095:Atp10a	APN	7	58,457,141 (GRCm39)	missense	probably damaging	1.00
IGL02549:Atp10a	APN	7	58,469,481 (GRCm39)	missense	probably benign	0.00
IGL02558:Atp10a	APN	7	58,469,390 (GRCm39)	missense	probably damaging	0.98
IGL02659:Atp10a	APN	7	58,463,379 (GRCm39)	missense	probably benign
IGL02986:Atp10a	APN	7	58,478,469 (GRCm39)	missense	probably benign
IGL03218:Atp10a	APN	7	58,438,196 (GRCm39)	critical splice donor site	probably null
PIT4260001:Atp10a	UTSW	7	58,440,866 (GRCm39)	nonsense	probably null
PIT4445001:Atp10a	UTSW	7	58,453,215 (GRCm39)	missense	probably damaging	0.98
PIT4810001:Atp10a	UTSW	7	58,463,596 (GRCm39)	missense	probably damaging	0.99
R0091:Atp10a	UTSW	7	58,423,794 (GRCm39)	splice site	probably benign
R0349:Atp10a	UTSW	7	58,453,215 (GRCm39)	missense	probably damaging	0.98
R0426:Atp10a	UTSW	7	58,434,482 (GRCm39)	missense	probably benign	0.00
R0609:Atp10a	UTSW	7	58,469,488 (GRCm39)	splice site	probably null
R0722:Atp10a	UTSW	7	58,465,931 (GRCm39)	missense	possibly damaging	0.75
R0741:Atp10a	UTSW	7	58,478,337 (GRCm39)	missense	possibly damaging	0.90
R1172:Atp10a	UTSW	7	58,453,514 (GRCm39)	missense	probably benign	0.05
R1342:Atp10a	UTSW	7	58,465,894 (GRCm39)	splice site	probably benign
R1648:Atp10a	UTSW	7	58,434,575 (GRCm39)	missense	probably damaging	1.00
R1715:Atp10a	UTSW	7	58,436,253 (GRCm39)	missense	probably damaging	0.98
R1737:Atp10a	UTSW	7	58,476,986 (GRCm39)	splice site	probably benign
R1799:Atp10a	UTSW	7	58,474,182 (GRCm39)	missense	probably damaging	1.00
R1909:Atp10a	UTSW	7	58,478,460 (GRCm39)	missense	probably benign	0.12
R1918:Atp10a	UTSW	7	58,477,683 (GRCm39)	missense	possibly damaging	0.82
R2031:Atp10a	UTSW	7	58,477,678 (GRCm39)	nonsense	probably null
R2080:Atp10a	UTSW	7	58,474,075 (GRCm39)	missense	probably damaging	0.97
R2424:Atp10a	UTSW	7	58,444,303 (GRCm39)	missense	probably benign	0.16
R2696:Atp10a	UTSW	7	58,463,366 (GRCm39)	missense	probably benign	0.00
R3932:Atp10a	UTSW	7	58,476,852 (GRCm39)	missense	possibly damaging	0.69
R4198:Atp10a	UTSW	7	58,463,434 (GRCm39)	missense	probably damaging	1.00
R4453:Atp10a	UTSW	7	58,308,248 (GRCm39)	small deletion	probably benign
R4632:Atp10a	UTSW	7	58,457,186 (GRCm39)	missense	possibly damaging	0.48
R4661:Atp10a	UTSW	7	58,308,248 (GRCm39)	small deletion	probably benign
R4782:Atp10a	UTSW	7	58,440,843 (GRCm39)	missense	probably benign
R4935:Atp10a	UTSW	7	58,463,512 (GRCm39)	missense	probably damaging	1.00
R5051:Atp10a	UTSW	7	58,389,994 (GRCm39)	frame shift	probably null
R5213:Atp10a	UTSW	7	58,423,731 (GRCm39)	missense	probably damaging	0.99
R5617:Atp10a	UTSW	7	58,453,423 (GRCm39)	missense	probably benign	0.06
R5834:Atp10a	UTSW	7	58,308,366 (GRCm39)	missense	probably benign	0.01
R5885:Atp10a	UTSW	7	58,463,548 (GRCm39)	missense	possibly damaging	0.92
R6013:Atp10a	UTSW	7	58,447,538 (GRCm39)	missense	probably benign	0.05
R6136:Atp10a	UTSW	7	58,478,088 (GRCm39)	missense	probably benign
R6269:Atp10a	UTSW	7	58,453,487 (GRCm39)	missense	possibly damaging	0.51
R6380:Atp10a	UTSW	7	58,469,432 (GRCm39)	nonsense	probably null
R6743:Atp10a	UTSW	7	58,447,562 (GRCm39)	missense	possibly damaging	0.89
R6875:Atp10a	UTSW	7	58,447,100 (GRCm39)	missense	probably benign	0.01
R6975:Atp10a	UTSW	7	58,423,733 (GRCm39)	missense	probably damaging	1.00
R7082:Atp10a	UTSW	7	58,308,567 (GRCm39)	missense	probably damaging	1.00
R7203:Atp10a	UTSW	7	58,436,221 (GRCm39)	missense	probably benign
R7224:Atp10a	UTSW	7	58,447,219 (GRCm39)	missense	probably benign	0.00
R7287:Atp10a	UTSW	7	58,477,017 (GRCm39)	missense	probably damaging	1.00
R7437:Atp10a	UTSW	7	58,308,288 (GRCm39)	missense	unknown
R7474:Atp10a	UTSW	7	58,308,275 (GRCm39)	missense	unknown
R7530:Atp10a	UTSW	7	58,423,724 (GRCm39)	missense	probably benign	0.02
R7561:Atp10a	UTSW	7	58,476,881 (GRCm39)	missense	probably damaging	0.98
R7743:Atp10a	UTSW	7	58,453,457 (GRCm39)	missense	probably damaging	1.00
R7767:Atp10a	UTSW	7	58,308,597 (GRCm39)	missense	probably damaging	1.00
R7861:Atp10a	UTSW	7	58,438,107 (GRCm39)	missense	probably damaging	1.00
R7903:Atp10a	UTSW	7	58,308,570 (GRCm39)	missense	probably damaging	1.00
R8015:Atp10a	UTSW	7	58,453,245 (GRCm39)	missense	probably benign	0.00
R8166:Atp10a	UTSW	7	58,457,270 (GRCm39)	missense	possibly damaging	0.46
R8201:Atp10a	UTSW	7	58,469,424 (GRCm39)	nonsense	probably null
R8465:Atp10a	UTSW	7	58,478,058 (GRCm39)	missense	probably benign	0.32
R8858:Atp10a	UTSW	7	58,465,971 (GRCm39)	missense	probably damaging	1.00
R8985:Atp10a	UTSW	7	58,438,092 (GRCm39)	missense	probably benign	0.03
R9003:Atp10a	UTSW	7	58,457,203 (GRCm39)	missense	probably damaging	1.00
R9274:Atp10a	UTSW	7	58,478,369 (GRCm39)	missense	probably benign	0.22
R9385:Atp10a	UTSW	7	58,477,887 (GRCm39)	missense	probably benign	0.00
R9432:Atp10a	UTSW	7	58,469,418 (GRCm39)	missense	possibly damaging	0.95
R9454:Atp10a	UTSW	7	58,308,339 (GRCm39)	missense	probably benign
R9596:Atp10a	UTSW	7	58,477,553 (GRCm39)	missense	probably damaging	1.00
R9736:Atp10a	UTSW	7	58,474,078 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp10a	UTSW	7	58,438,195 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCATTCTGAATCCTATTTTGACCG -3'
(R):5'- GCACTCCTGGAATCCAAGTAG -3'

Sequencing Primer
(F):5'- CCGAGGTTCTTAGAGAGCTGAAATCC -3'
(R):5'- CTCCTGGAATCCAAGTAGTGAAAATG -3'

Posted On

2016-03-17