Mutagenetix > Incidental Mutation

Incidental Mutation 'R1856:Atp13a2'

206105

Institutional Source

Beutler Lab

Gene Symbol

Atp13a2

Ensembl Gene

ENSMUSG00000036622

Gene Name

ATPase type 13A2

Synonyms

MMRRC Submission

039880-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1856 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

140986873-141007330 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 141004012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 869 (P869L)

Ref Sequence

ENSEMBL: ENSMUSP00000126461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037055] [ENSMUST00000127833] [ENSMUST00000168047]

AlphaFold

Q9CTG6

Predicted Effect

probably benign
Transcript: ENSMUST00000037055
AA Change: P786L

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: P786L

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	31	171	8.9e-27	PFAM
Cation_ATPase_N	179	251	9.78e-1	SMART
Pfam:E1-E2_ATPase	256	497	3.6e-39	PFAM
Pfam:Hydrolase	502	785	2e-14	PFAM
Pfam:HAD	505	876	3.6e-27	PFAM
transmembrane domain	920	942	N/A	INTRINSIC
transmembrane domain	957	979	N/A	INTRINSIC
transmembrane domain	991	1013	N/A	INTRINSIC
transmembrane domain	1033	1055	N/A	INTRINSIC
transmembrane domain	1068	1090	N/A	INTRINSIC
transmembrane domain	1105	1127	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127833
AA Change: P786L

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: P786L

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	31	164	7.4e-29	PFAM
Cation_ATPase_N	179	251	9.78e-1	SMART
Pfam:E1-E2_ATPase	256	496	6e-34	PFAM
Pfam:HAD	505	876	4e-27	PFAM
Pfam:Hydrolase	663	879	2.5e-15	PFAM
transmembrane domain	925	947	N/A	INTRINSIC
transmembrane domain	954	976	N/A	INTRINSIC
transmembrane domain	991	1013	N/A	INTRINSIC
low complexity region	1102	1115	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156995

Predicted Effect

probably benign
Transcript: ENSMUST00000168047
AA Change: P869L

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: P869L

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	31	156	1e-27	PFAM
Cation_ATPase_N	262	334	9.78e-1	SMART
Pfam:E1-E2_ATPase	339	579	4.8e-34	PFAM
Pfam:HAD	588	959	3e-27	PFAM
Pfam:Hydrolase	726	962	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170797

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neuronal ceroid lipofuscinosis, synuclein accumulation and age-dependent sensorimotor deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	G	7: 120,278,181	F1017L	probably damaging	Het
Abcb11	A	C	2: 69,245,923	V1147G	probably damaging	Het
Abcc10	T	A	17: 46,306,603	S1128C	probably damaging	Het
Adam6a	G	A	12: 113,545,303	C432Y	probably damaging	Het
Adamdec1	C	T	14: 68,570,948	V318M	probably damaging	Het
Ahnak	C	A	19: 9,002,048	S232Y	possibly damaging	Het
Amt	A	C	9: 108,297,162	H42P	probably damaging	Het
Anapc1	A	T	2: 128,659,788	L778Q	probably damaging	Het
Ankhd1	G	A	18: 36,644,527	A1588T	probably benign	Het
Anln	A	T	9: 22,353,331	L881Q	probably damaging	Het
Appl1	A	G	14: 26,927,749	S607P	probably damaging	Het
Arg2	G	T	12: 79,147,662	V87L	probably benign	Het
Atxn7l1	T	A	12: 33,358,770	D310E	probably damaging	Het
Cd6	A	T	19: 10,798,602	D164E	probably damaging	Het
Cdan1	C	A	2: 120,724,936	V775L	probably benign	Het
Cep164	A	T	9: 45,775,758		probably null	Het
Cep41	A	G	6: 30,661,006	S61P	probably damaging	Het
Clcn7	C	A	17: 25,160,471	D764E	probably damaging	Het
Cog2	G	A	8: 124,551,403	G703S	possibly damaging	Het
Cramp1l	T	C	17: 24,968,978	D1214G	probably damaging	Het
Cst7	G	T	2: 150,577,708	C98F	probably damaging	Het
Ctc1	T	A	11: 69,034,658	L1007Q	probably damaging	Het
Cyb5r4	G	A	9: 87,022,209	A11T	possibly damaging	Het
Dcaf8	A	G	1: 172,175,553	D306G	probably damaging	Het
Defb38	T	A	8: 19,023,576	K27I	probably benign	Het
Disp3	T	C	4: 148,271,632	E257G	probably damaging	Het
Dnajc6	T	C	4: 101,598,988	S58P	probably damaging	Het
Dock10	A	T	1: 80,606,568	D140E	possibly damaging	Het
Dopey1	T	C	9: 86,492,004	V172A	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Eci3	C	T	13: 34,953,028	A171T	possibly damaging	Het
Eml2	A	G	7: 19,194,061	D284G	probably damaging	Het
Eml5	T	C	12: 98,810,584	D1377G	probably damaging	Het
Fam186a	T	C	15: 99,940,302	E2687G	possibly damaging	Het
Fut9	A	C	4: 25,620,352	L154R	probably damaging	Het
Gabrb2	A	G	11: 42,626,713	N454S	probably benign	Het
Gm438	T	A	4: 144,777,883	M233L	probably benign	Het
Gpr183	T	A	14: 121,954,741	I123L	probably benign	Het
Gucy1b1	A	T	3: 82,058,352	N62K	probably benign	Het
Hcrtr2	T	C	9: 76,259,785	N90S	probably damaging	Het
Hectd1	A	T	12: 51,744,794	L2556Q	probably damaging	Het
Hfm1	T	A	5: 106,847,676	M1290L	probably benign	Het
Hgsnat	A	G	8: 25,957,256	W337R	probably benign	Het
Hmbox1	T	C	14: 64,828,648	Y291C	probably damaging	Het
Hmcn1	T	C	1: 150,721,664	N1749S	probably benign	Het
Igsf10	T	C	3: 59,331,272	D496G	possibly damaging	Het
Iqch	C	T	9: 63,534,337		probably null	Het
Irf6	A	G	1: 193,167,535	D255G	probably benign	Het
Kif9	G	A	9: 110,517,719	G642R	probably null	Het
Klhl20	A	G	1: 161,106,742	Y236H	probably benign	Het
Krt39	T	A	11: 99,519,088	K208*	probably null	Het
Lama3	T	A	18: 12,537,781	L808*	probably null	Het
Lrp5	C	T	19: 3,597,346	A1299T	probably benign	Het
Lysmd4	A	G	7: 67,226,231	Q214R	probably benign	Het
Macf1	T	A	4: 123,369,848	E6960V	probably damaging	Het
Mcpt2	A	G	14: 56,043,699	E120G	probably benign	Het
Mpeg1	A	G	19: 12,462,356	T393A	probably benign	Het
Myh4	G	A	11: 67,255,682	E1494K	probably damaging	Het
Nbas	T	G	12: 13,474,229	S1695R	possibly damaging	Het
Nlgn1	G	T	3: 25,440,037	Y249*	probably null	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nup107	A	G	10: 117,750,906	L910P	probably damaging	Het
Obscn	T	A	11: 59,040,296	D5838V	probably damaging	Het
Olfr1218	G	A	2: 89,054,859	T189M	possibly damaging	Het
Olfr347	T	C	2: 36,734,345	I8T	probably benign	Het
Olfr926	T	C	9: 38,877,596	I140T	possibly damaging	Het
Olfr978	T	C	9: 39,994,359	I183T	probably benign	Het
Otogl	G	T	10: 107,854,264	S915Y	possibly damaging	Het
P2rx7	T	A	5: 122,681,032	C506S	probably damaging	Het
P4hb	T	C	11: 120,563,218	E350G	probably benign	Het
Papolg	A	T	11: 23,867,379	V606E	probably benign	Het
Pappa	A	T	4: 65,340,743	D1576V	probably damaging	Het
Pclo	G	T	5: 14,778,552	V1402F	probably damaging	Het
Pdcd11	A	G	19: 47,098,187	T211A	probably benign	Het
Pdzd2	T	C	15: 12,373,855	R2065G	possibly damaging	Het
Plcl2	T	C	17: 50,607,850	V629A	probably benign	Het
Prkcsh	G	A	9: 22,004,575	V92I	possibly damaging	Het
Prpf19	G	T	19: 10,902,416	V320F	probably damaging	Het
Ptpn3	T	A	4: 57,239,682	I283F	probably damaging	Het
Rcc2	T	A	4: 140,720,604	D480E	probably benign	Het
Rnf182	G	A	13: 43,668,042	C23Y	probably damaging	Het
Rnf186	C	T	4: 138,967,362	T71I	probably benign	Het
Scyl3	A	G	1: 163,933,696		probably null	Het
Slc12a6	G	T	2: 112,335,927		probably null	Het
Slc1a2	C	A	2: 102,777,567	S520Y	probably damaging	Het
Slc35e2	T	A	4: 155,611,729	L191Q	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx33	T	C	9: 56,926,011	H258R	possibly damaging	Het
Tecpr2	A	T	12: 110,933,064	H622L	probably benign	Het
Thbs3	A	T	3: 89,226,406	E888D	probably damaging	Het
Tlk2	T	C	11: 105,221,298	L159P	probably benign	Het
Tmem70	A	T	1: 16,677,273	T205S	probably damaging	Het
Trappc10	T	A	10: 78,196,451	H1001L	probably benign	Het
Trim12a	T	C	7: 104,300,857	T292A	probably benign	Het
Trip11	G	A	12: 101,883,333	R92*	probably null	Het
Trpa1	G	A	1: 14,899,388	Q386*	probably null	Het
Trpc4	T	A	3: 54,279,989	V454D	probably damaging	Het
Ttc36	A	T	9: 44,802,754	D22E	probably benign	Het
Ttk	A	T	9: 83,869,263	I798F	probably damaging	Het
Ttn	T	C	2: 76,743,633	I17312V	probably damaging	Het
Txndc15	A	T	13: 55,718,062	E113V	possibly damaging	Het
Ube2d4	T	A	15: 58,846,599		noncoding transcript	Het
Urb1	T	A	16: 90,761,695	T1723S	probably benign	Het
Vmn1r65	A	T	7: 6,008,266	V323D	possibly damaging	Het
Vmn2r54	A	G	7: 12,632,311	M232T	probably benign	Het
Wdr59	A	G	8: 111,476,181	S577P	probably damaging	Het
Wfikkn2	C	T	11: 94,238,123	W397*	probably null	Het
Ypel1	T	A	16: 17,081,647		probably null	Het
Ythdf1	T	A	2: 180,910,970	D484V	probably damaging	Het
Zdhhc17	A	G	10: 110,947,293		probably null	Het
Zfp472	A	T	17: 32,965,913	H2L	possibly damaging	Het
Zfp953	A	T	13: 67,345,358	M74K	probably benign	Het
Zmat4	C	T	8: 23,929,135	T61M	probably benign	Het

Other mutations in Atp13a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Atp13a2	APN	4	140992198	missense	probably benign	0.02
IGL01476:Atp13a2	APN	4	141000770	missense	probably damaging	1.00
IGL01980:Atp13a2	APN	4	141006152	missense	probably benign	0.00
IGL02257:Atp13a2	APN	4	141006089	missense	probably benign	0.00
IGL02589:Atp13a2	APN	4	141006411	missense	probably damaging	1.00
IGL02936:Atp13a2	APN	4	141001949	missense	probably benign	0.00
IGL03032:Atp13a2	APN	4	141000355	missense	possibly damaging	0.95
IGL03040:Atp13a2	APN	4	141006173	missense	probably damaging	1.00
IGL03271:Atp13a2	APN	4	141000397	missense	possibly damaging	0.69
calla	UTSW	4	140994332	nonsense	probably null
eastern_moon	UTSW	4	141005016	missense	probably damaging	0.99
yucca_brevifolia	UTSW	4	140993802	missense	probably damaging	1.00
IGL03054:Atp13a2	UTSW	4	141006968	missense	possibly damaging	0.83
PIT4469001:Atp13a2	UTSW	4	140994127	missense	unknown
R0634:Atp13a2	UTSW	4	141006929	unclassified	probably benign
R0881:Atp13a2	UTSW	4	141003931	missense	probably damaging	1.00
R1295:Atp13a2	UTSW	4	140993802	missense	probably damaging	1.00
R1296:Atp13a2	UTSW	4	140993802	missense	probably damaging	1.00
R1472:Atp13a2	UTSW	4	140993802	missense	probably damaging	1.00
R1780:Atp13a2	UTSW	4	141002460	missense	possibly damaging	0.73
R1837:Atp13a2	UTSW	4	140994332	nonsense	probably null
R1838:Atp13a2	UTSW	4	140994332	nonsense	probably null
R1918:Atp13a2	UTSW	4	140996371	missense	possibly damaging	0.90
R1956:Atp13a2	UTSW	4	141004261	missense	possibly damaging	0.92
R2126:Atp13a2	UTSW	4	140995391	missense	possibly damaging	0.94
R2130:Atp13a2	UTSW	4	141005016	missense	probably damaging	0.99
R2132:Atp13a2	UTSW	4	141005016	missense	probably damaging	0.99
R2133:Atp13a2	UTSW	4	141005016	missense	probably damaging	0.99
R2397:Atp13a2	UTSW	4	141003155	missense	probably benign	0.00
R2873:Atp13a2	UTSW	4	141002983	missense	probably benign	0.00
R3025:Atp13a2	UTSW	4	140994348	missense	probably damaging	1.00
R3939:Atp13a2	UTSW	4	141006422	missense	probably damaging	0.98
R3940:Atp13a2	UTSW	4	141006422	missense	probably damaging	0.98
R3942:Atp13a2	UTSW	4	141006422	missense	probably damaging	0.98
R4247:Atp13a2	UTSW	4	140992228	critical splice donor site	probably null
R4357:Atp13a2	UTSW	4	141001904	missense	probably benign	0.01
R4406:Atp13a2	UTSW	4	141006476	missense	probably damaging	1.00
R4686:Atp13a2	UTSW	4	141003276	critical splice donor site	probably null
R5033:Atp13a2	UTSW	4	141000821	missense	possibly damaging	0.91
R5066:Atp13a2	UTSW	4	141005138	missense	probably damaging	1.00
R5278:Atp13a2	UTSW	4	141000818	missense	probably damaging	0.97
R5464:Atp13a2	UTSW	4	141006070	missense	probably damaging	1.00
R5522:Atp13a2	UTSW	4	141004360	splice site	probably null
R5614:Atp13a2	UTSW	4	140992182	missense	probably benign	0.35
R5846:Atp13a2	UTSW	4	140995596	missense	possibly damaging	0.81
R6378:Atp13a2	UTSW	4	141007056	missense	probably benign	0.34
R6512:Atp13a2	UTSW	4	141003218	missense	probably damaging	1.00
R6518:Atp13a2	UTSW	4	141000854	missense	possibly damaging	0.89
R6519:Atp13a2	UTSW	4	141000854	missense	possibly damaging	0.89
R7166:Atp13a2	UTSW	4	141006984	missense	possibly damaging	0.89
R7178:Atp13a2	UTSW	4	140999151	missense	probably damaging	1.00
R7657:Atp13a2	UTSW	4	140992504	missense	possibly damaging	0.92
R8256:Atp13a2	UTSW	4	140995611	missense	possibly damaging	0.94
R8313:Atp13a2	UTSW	4	141002735	missense	probably benign
R8318:Atp13a2	UTSW	4	141007024	missense	probably benign	0.14
R8781:Atp13a2	UTSW	4	140996380	missense	probably benign	0.36
R9142:Atp13a2	UTSW	4	141002053	missense	probably damaging	1.00
R9145:Atp13a2	UTSW	4	140996745	missense	probably damaging	0.99
R9158:Atp13a2	UTSW	4	140996801	critical splice donor site	probably null
R9256:Atp13a2	UTSW	4	141002727	missense	probably damaging	0.98
R9339:Atp13a2	UTSW	4	141003260	missense	probably benign	0.00
Z1176:Atp13a2	UTSW	4	141005117	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTCATGGATGGTCTCCTGTAAG -3'
(R):5'- AAGGACTGCAAACGTGGACC -3'

Sequencing Primer
(F):5'- ATGGTCTCCTGTAAGGGTCAG -3'
(R):5'- AAACGTGGACCCGCTGAG -3'

Posted On

2014-06-23