Mutagenetix > Incidental Mutation

Incidental Mutation 'R7530:Atp10a'

583263

Institutional Source

Beutler Lab

Gene Symbol

Atp10a

Ensembl Gene

ENSMUSG00000025324

Gene Name

ATPase, class V, type 10A

Synonyms

pfatp, Atp10c

MMRRC Submission

045602-MU

Accession Numbers

Essential gene?

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

Stock #

R7530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58305914-58479168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58423724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 230 (T230A)

Ref Sequence

ENSEMBL: ENSMUSP00000129811 (fasta)

Gene Model

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

AlphaFold

O54827

Predicted Effect

probably benign
Transcript: ENSMUST00000168747
AA Change: T230A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129811
Gene: ENSMUSG00000025324
AA Change: T230A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (52/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Atp5mc2	A	T	15: 102,576,183 (GRCm39)	M1K	probably null	Het
Atp8a1	A	C	5: 67,902,971 (GRCm39)	L535R		Het
Bsn	A	G	9: 107,989,155 (GRCm39)	I2199T	probably damaging	Het
Ccdc73	A	G	2: 104,824,915 (GRCm39)	T155A		Het
Cdc42bpg	T	G	19: 6,372,305 (GRCm39)	F1430L	probably benign	Het
Cdc42bpg	G	T	19: 6,372,306 (GRCm39)	V1431L	probably benign	Het
Chat	A	T	14: 32,130,915 (GRCm39)	Y575*	probably null	Het
Cimip4	T	C	15: 78,270,516 (GRCm39)	D84G	probably benign	Het
Col6a4	A	T	9: 105,945,589 (GRCm39)	C842S	probably damaging	Het
Coq2	T	C	5: 100,822,008 (GRCm39)	S34G	probably benign	Het
Crybg1	C	T	10: 43,875,069 (GRCm39)	A680T	possibly damaging	Het
Ctsr	T	A	13: 61,310,931 (GRCm39)	K38N	probably damaging	Het
Dpm2	T	C	2: 32,462,313 (GRCm39)	F33S	probably damaging	Het
Ecpas	A	G	4: 58,815,317 (GRCm39)	M1322T	probably damaging	Het
Ext2	T	A	2: 93,491,998 (GRCm39)	H564L	probably benign	Het
Fbxl2	G	T	9: 113,818,241 (GRCm39)	H202N	probably benign	Het
Fra10ac1	A	T	19: 38,204,353 (GRCm39)	Y74*	probably null	Het
Greb1	T	A	12: 16,767,207 (GRCm39)	I332F	probably benign	Het
Ifnar2	A	G	16: 91,201,201 (GRCm39)	S481G	probably benign	Het
Igkv9-123	G	A	6: 67,931,381 (GRCm39)	P62S	possibly damaging	Het
Iqub	T	C	6: 24,450,622 (GRCm39)	Q659R	probably benign	Het
Kansl2	T	C	15: 98,426,896 (GRCm39)	T242A	probably benign	Het
Kif28	C	T	1: 179,536,045 (GRCm39)	G543D	probably benign	Het
Lsg1	A	G	16: 30,401,419 (GRCm39)	S93P	possibly damaging	Het
Med23	T	A	10: 24,781,851 (GRCm39)	C1052S	probably benign	Het
Mgam	G	T	6: 40,686,152 (GRCm39)		probably null	Het
Mtmr4	C	T	11: 87,502,702 (GRCm39)	R919W	probably damaging	Het
Muc5ac	G	T	7: 141,367,536 (GRCm39)	V2986L	possibly damaging	Het
Myo5b	A	G	18: 74,864,802 (GRCm39)	E1340G	probably benign	Het
Nkd2	T	C	13: 73,995,078 (GRCm39)	D40G	possibly damaging	Het
Nudt5	T	C	2: 5,869,179 (GRCm39)	L135S	probably damaging	Het
Oca2	A	C	7: 55,981,720 (GRCm39)	D614A	probably damaging	Het
Or1e16	A	G	11: 73,279,189 (GRCm39)	V221A	possibly damaging	Het
Or6c201	A	C	10: 128,969,849 (GRCm39)		probably null	Het
Or8k24	T	A	2: 86,216,515 (GRCm39)	L82F	probably damaging	Het
Plec	C	A	15: 76,069,844 (GRCm39)	A991S	unknown	Het
Plekhg2	G	A	7: 28,061,353 (GRCm39)	R817C	probably damaging	Het
Plrg1	T	A	3: 82,965,989 (GRCm39)	L48H	probably damaging	Het
Prx	A	G	7: 27,207,397 (GRCm39)	E18G	probably damaging	Het
Ptprf	T	C	4: 118,069,945 (GRCm39)	Y1479C	probably damaging	Het
Rap1b	A	T	10: 117,653,357 (GRCm39)	Y159*	probably null	Het
Rbck1	T	C	2: 152,166,212 (GRCm39)	E242G	possibly damaging	Het
Rxfp1	T	C	3: 79,557,768 (GRCm39)	D570G	probably benign	Het
Slc35f5	G	T	1: 125,512,275 (GRCm39)	L358F	probably damaging	Het
Smarcd2	A	G	11: 106,156,587 (GRCm39)	W274R	probably damaging	Het
Spata6l	A	T	19: 28,926,121 (GRCm39)	Y43*	probably null	Het
Ssu72	A	G	4: 155,815,786 (GRCm39)	T77A	probably benign	Het
Tomm40	G	A	7: 19,436,829 (GRCm39)	T297I	possibly damaging	Het
Urb1	A	T	16: 90,558,522 (GRCm39)	I1743N	probably damaging	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	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
R4888:Atp10a	UTSW	7	58,435,055 (GRCm39)	missense	probably damaging	1.00
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
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'- TCACTATCCACAAGTCTGTTCATAG -3'
(R):5'- TTGACAAGCTCCCACTGCTG -3'

Sequencing Primer
(F):5'- TCCACAAGTCTGTTCATAGTTAAAAC -3'
(R):5'- GTCAACCAAAAATGATGTATGTGGC -3'

Posted On

2019-10-17