Mutagenetix > Incidental Mutation

Incidental Mutation 'R1838:Atp13a2'

205473

Institutional Source

Beutler Lab

Gene Symbol

Atp13a2

Ensembl Gene

ENSMUSG00000036622

Gene Name

ATPase type 13A2

Synonyms

1110012E06Rik

MMRRC Submission

039865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140714184-140734641 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 140721643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 244 (Y244*)

Ref Sequence

ENSEMBL: ENSMUSP00000126461 (fasta)

Gene Model

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

AlphaFold

Q9CTG6

Predicted Effect

probably null
Transcript: ENSMUST00000037055
AA Change: Y161*

SMART Domains

Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: Y161*

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

noncoding transcript
Transcript: ENSMUST00000125797

Predicted Effect

probably null
Transcript: ENSMUST00000127833
AA Change: Y161*

SMART Domains

Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: Y161*

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: ENSMUST00000151517

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156995

Predicted Effect

probably null
Transcript: ENSMUST00000168047
AA Change: Y244*

SMART Domains

Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: Y244*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,690 (GRCm39)	D22G	unknown	Het
Abca4	G	A	3: 121,921,954 (GRCm39)	R1170K	probably benign	Het
Adam28	T	C	14: 68,876,659 (GRCm39)	N197S	possibly damaging	Het
Adamtsl3	G	T	7: 82,142,581 (GRCm39)	R267L	probably damaging	Het
Adgrb2	A	T	4: 129,904,024 (GRCm39)	T717S	probably benign	Het
Adgrb3	A	G	1: 25,123,351 (GRCm39)	S1417P	probably damaging	Het
Afg3l2	A	T	18: 67,547,242 (GRCm39)	V561D	probably damaging	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Btnl6	T	A	17: 34,734,516 (GRCm39)	D82V	probably damaging	Het
Ccdc178	A	G	18: 22,200,695 (GRCm39)	Y421H	probably damaging	Het
Cdc123	A	T	2: 5,799,702 (GRCm39)		probably null	Het
Cdhr5	C	T	7: 140,852,516 (GRCm39)	V367I	possibly damaging	Het
Celsr3	A	G	9: 108,707,105 (GRCm39)	H1196R	probably benign	Het
Chd8	T	C	14: 52,442,340 (GRCm39)	S2077G	probably benign	Het
Col6a5	G	A	9: 105,742,032 (GRCm39)	H2296Y	probably benign	Het
Ctnna2	T	C	6: 77,822,525 (GRCm39)	D26G	probably damaging	Het
Ctr9	G	T	7: 110,651,510 (GRCm39)	R910L	possibly damaging	Het
Cyp2t4	G	T	7: 26,857,841 (GRCm39)	R455L	possibly damaging	Het
Cyp3a13	A	T	5: 137,909,894 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,436,949 (GRCm39)	S1059P	probably damaging	Het
Dennd4c	A	G	4: 86,743,415 (GRCm39)	T1135A	probably benign	Het
Dnah7b	T	C	1: 46,155,337 (GRCm39)	V295A	probably benign	Het
Dnah7b	C	A	1: 46,316,265 (GRCm39)	T3126K	probably damaging	Het
Ehbp1l1	C	T	19: 5,767,719 (GRCm39)	E1195K	probably benign	Het
Exoc6b	T	A	6: 84,830,660 (GRCm39)	I447L	probably benign	Het
Glt1d1	G	A	5: 127,755,193 (GRCm39)	V202I	probably benign	Het
Grk1	T	C	8: 13,466,155 (GRCm39)	V533A	possibly damaging	Het
Gsdma3	C	T	11: 98,520,684 (GRCm39)	A105V	probably benign	Het
Gzma	T	A	13: 113,232,518 (GRCm39)	I131F	probably damaging	Het
Helq	A	T	5: 100,919,745 (GRCm39)	L35*	probably null	Het
Hnrnpll	T	C	17: 80,346,052 (GRCm39)	N403S	probably damaging	Het
Hsf5	A	G	11: 87,526,881 (GRCm39)	K518E	probably benign	Het
Ighe	T	A	12: 113,235,470 (GRCm39)	H258L	unknown	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	probably benign	Het
Ints13	C	T	6: 146,468,109 (GRCm39)	A129T	possibly damaging	Het
Ipo7	T	A	7: 109,641,316 (GRCm39)	H345Q	probably damaging	Het
Kcna2	A	T	3: 107,011,828 (GRCm39)	E136D	probably benign	Het
Kif5a	G	A	10: 127,072,684 (GRCm39)	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,694,381 (GRCm39)	P189T	probably benign	Het
Krtap4-9	A	G	11: 99,676,222 (GRCm39)		probably benign	Het
Lamc3	T	C	2: 31,815,594 (GRCm39)	S1097P	possibly damaging	Het
Ldlrad2	A	T	4: 137,299,481 (GRCm39)	N114K	probably benign	Het
Lrfn1	A	T	7: 28,159,193 (GRCm39)	I371L	probably damaging	Het
Lrwd1	A	G	5: 136,161,242 (GRCm39)	V240A	probably benign	Het
Lypd1	A	T	1: 125,801,108 (GRCm39)		probably benign	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Man2c1	A	G	9: 57,044,621 (GRCm39)	N354S	probably benign	Het
Map3k13	T	C	16: 21,732,939 (GRCm39)	Y514H	possibly damaging	Het
Med15	T	C	16: 17,471,426 (GRCm39)	D577G	probably benign	Het
Mroh4	A	T	15: 74,487,962 (GRCm39)	M320K	probably benign	Het
Ms4a10	T	A	19: 10,941,411 (GRCm39)	D186V	possibly damaging	Het
Myh7	T	C	14: 55,210,637 (GRCm39)	N1725S	possibly damaging	Het
Myo5c	A	T	9: 75,180,835 (GRCm39)	R741S	probably damaging	Het
Naa80	G	A	9: 107,460,216 (GRCm39)	R37H	possibly damaging	Het
Naip6	T	C	13: 100,452,644 (GRCm39)	D139G	probably damaging	Het
Or10s1	A	T	9: 39,985,605 (GRCm39)	M5L	probably benign	Het
Or2p2	A	T	13: 21,256,595 (GRCm39)	L292*	probably null	Het
Or4a79	A	T	2: 89,552,053 (GRCm39)	M134K	probably damaging	Het
Or8g2	A	T	9: 39,821,137 (GRCm39)	I13F	possibly damaging	Het
Pcdhb3	A	G	18: 37,434,370 (GRCm39)	D112G	probably benign	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Pgm3	C	T	9: 86,451,286 (GRCm39)	V123I	probably benign	Het
Pms1	A	C	1: 53,231,257 (GRCm39)		probably null	Het
Prl2b1	A	G	13: 27,572,549 (GRCm39)	S14P	possibly damaging	Het
Prune2	T	A	19: 17,177,242 (GRCm39)	W212R	probably damaging	Het
Rabgef1	A	G	5: 130,241,862 (GRCm39)	E422G	probably benign	Het
Ralyl	A	G	3: 14,208,472 (GRCm39)	E204G	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rbpms2	TGCCGCCGCC	TGCCGCCGCCGCC	9: 65,558,962 (GRCm39)		probably benign	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Slc16a7	C	T	10: 125,067,067 (GRCm39)	V191M	probably damaging	Het
Slc34a2	A	T	5: 53,215,778 (GRCm39)	H63L	probably benign	Het
Smpd4	G	A	16: 17,460,166 (GRCm39)		probably null	Het
Sp3	A	G	2: 72,768,520 (GRCm39)	S748P	possibly damaging	Het
Spata31d1b	G	A	13: 59,863,671 (GRCm39)	C273Y	probably benign	Het
Spata31d1b	G	A	13: 59,865,279 (GRCm39)	R809K	probably benign	Het
Tmco5	A	T	2: 116,711,360 (GRCm39)	E90V	probably damaging	Het
Tnxb	A	T	17: 34,897,884 (GRCm39)	D844V	probably damaging	Het
Tpi1	T	C	6: 124,791,115 (GRCm39)	T41A	probably benign	Het
Ttn	T	C	2: 76,557,536 (GRCm39)	I29853V	probably damaging	Het
Vmn2r26	C	T	6: 124,001,730 (GRCm39)	T5I	probably benign	Het
Wdr95	A	G	5: 149,522,831 (GRCm39)	D663G	probably benign	Het
Zbtb39	T	C	10: 127,578,569 (GRCm39)	F381S	probably damaging	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp646	T	A	7: 127,478,911 (GRCm39)	Y363N	probably damaging	Het
Zfp712	A	C	13: 67,190,111 (GRCm39)	C139G	probably damaging	Het
Zfp958	A	G	8: 4,678,590 (GRCm39)	H205R	probably damaging	Het
Zfp974	G	A	7: 27,609,781 (GRCm39)	P648L	possibly damaging	Het

Other mutations in Atp13a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Atp13a2	APN	4	140,719,509 (GRCm39)	missense	probably benign	0.02
IGL01476:Atp13a2	APN	4	140,728,081 (GRCm39)	missense	probably damaging	1.00
IGL01980:Atp13a2	APN	4	140,733,463 (GRCm39)	missense	probably benign	0.00
IGL02257:Atp13a2	APN	4	140,733,400 (GRCm39)	missense	probably benign	0.00
IGL02589:Atp13a2	APN	4	140,733,722 (GRCm39)	missense	probably damaging	1.00
IGL02936:Atp13a2	APN	4	140,729,260 (GRCm39)	missense	probably benign	0.00
IGL03032:Atp13a2	APN	4	140,727,666 (GRCm39)	missense	possibly damaging	0.95
IGL03040:Atp13a2	APN	4	140,733,484 (GRCm39)	missense	probably damaging	1.00
IGL03271:Atp13a2	APN	4	140,727,708 (GRCm39)	missense	possibly damaging	0.69
calla	UTSW	4	140,721,643 (GRCm39)	nonsense	probably null
eastern_moon	UTSW	4	140,732,327 (GRCm39)	missense	probably damaging	0.99
yucca_brevifolia	UTSW	4	140,721,113 (GRCm39)	missense	probably damaging	1.00
IGL03054:Atp13a2	UTSW	4	140,734,279 (GRCm39)	missense	possibly damaging	0.83
PIT4469001:Atp13a2	UTSW	4	140,721,438 (GRCm39)	missense	unknown
R0634:Atp13a2	UTSW	4	140,734,240 (GRCm39)	unclassified	probably benign
R0881:Atp13a2	UTSW	4	140,731,242 (GRCm39)	missense	probably damaging	1.00
R1295:Atp13a2	UTSW	4	140,721,113 (GRCm39)	missense	probably damaging	1.00
R1296:Atp13a2	UTSW	4	140,721,113 (GRCm39)	missense	probably damaging	1.00
R1472:Atp13a2	UTSW	4	140,721,113 (GRCm39)	missense	probably damaging	1.00
R1780:Atp13a2	UTSW	4	140,729,771 (GRCm39)	missense	possibly damaging	0.73
R1837:Atp13a2	UTSW	4	140,721,643 (GRCm39)	nonsense	probably null
R1856:Atp13a2	UTSW	4	140,731,323 (GRCm39)	missense	probably benign	0.43
R1918:Atp13a2	UTSW	4	140,723,682 (GRCm39)	missense	possibly damaging	0.90
R1956:Atp13a2	UTSW	4	140,731,572 (GRCm39)	missense	possibly damaging	0.92
R2126:Atp13a2	UTSW	4	140,722,702 (GRCm39)	missense	possibly damaging	0.94
R2130:Atp13a2	UTSW	4	140,732,327 (GRCm39)	missense	probably damaging	0.99
R2132:Atp13a2	UTSW	4	140,732,327 (GRCm39)	missense	probably damaging	0.99
R2133:Atp13a2	UTSW	4	140,732,327 (GRCm39)	missense	probably damaging	0.99
R2397:Atp13a2	UTSW	4	140,730,466 (GRCm39)	missense	probably benign	0.00
R2873:Atp13a2	UTSW	4	140,730,294 (GRCm39)	missense	probably benign	0.00
R3025:Atp13a2	UTSW	4	140,721,659 (GRCm39)	missense	probably damaging	1.00
R3939:Atp13a2	UTSW	4	140,733,733 (GRCm39)	missense	probably damaging	0.98
R3940:Atp13a2	UTSW	4	140,733,733 (GRCm39)	missense	probably damaging	0.98
R3942:Atp13a2	UTSW	4	140,733,733 (GRCm39)	missense	probably damaging	0.98
R4247:Atp13a2	UTSW	4	140,719,539 (GRCm39)	critical splice donor site	probably null
R4357:Atp13a2	UTSW	4	140,729,215 (GRCm39)	missense	probably benign	0.01
R4406:Atp13a2	UTSW	4	140,733,787 (GRCm39)	missense	probably damaging	1.00
R4686:Atp13a2	UTSW	4	140,730,587 (GRCm39)	critical splice donor site	probably null
R5033:Atp13a2	UTSW	4	140,728,132 (GRCm39)	missense	possibly damaging	0.91
R5066:Atp13a2	UTSW	4	140,732,449 (GRCm39)	missense	probably damaging	1.00
R5278:Atp13a2	UTSW	4	140,728,129 (GRCm39)	missense	probably damaging	0.97
R5464:Atp13a2	UTSW	4	140,733,381 (GRCm39)	missense	probably damaging	1.00
R5522:Atp13a2	UTSW	4	140,731,671 (GRCm39)	splice site	probably null
R5614:Atp13a2	UTSW	4	140,719,493 (GRCm39)	missense	probably benign	0.35
R5846:Atp13a2	UTSW	4	140,722,907 (GRCm39)	missense	possibly damaging	0.81
R6378:Atp13a2	UTSW	4	140,734,367 (GRCm39)	missense	probably benign	0.34
R6512:Atp13a2	UTSW	4	140,730,529 (GRCm39)	missense	probably damaging	1.00
R6518:Atp13a2	UTSW	4	140,728,165 (GRCm39)	missense	possibly damaging	0.89
R6519:Atp13a2	UTSW	4	140,728,165 (GRCm39)	missense	possibly damaging	0.89
R7166:Atp13a2	UTSW	4	140,734,295 (GRCm39)	missense	possibly damaging	0.89
R7178:Atp13a2	UTSW	4	140,726,462 (GRCm39)	missense	probably damaging	1.00
R7657:Atp13a2	UTSW	4	140,719,815 (GRCm39)	missense	possibly damaging	0.92
R8256:Atp13a2	UTSW	4	140,722,922 (GRCm39)	missense	possibly damaging	0.94
R8313:Atp13a2	UTSW	4	140,730,046 (GRCm39)	missense	probably benign
R8318:Atp13a2	UTSW	4	140,734,335 (GRCm39)	missense	probably benign	0.14
R8781:Atp13a2	UTSW	4	140,723,691 (GRCm39)	missense	probably benign	0.36
R9142:Atp13a2	UTSW	4	140,729,364 (GRCm39)	missense	probably damaging	1.00
R9145:Atp13a2	UTSW	4	140,724,056 (GRCm39)	missense	probably damaging	0.99
R9158:Atp13a2	UTSW	4	140,724,112 (GRCm39)	critical splice donor site	probably null
R9256:Atp13a2	UTSW	4	140,730,038 (GRCm39)	missense	probably damaging	0.98
R9339:Atp13a2	UTSW	4	140,730,571 (GRCm39)	missense	probably benign	0.00
Z1176:Atp13a2	UTSW	4	140,732,428 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCGTTGAGCTGCTGAGTAAC -3'
(R):5'- CGCTTCATGAACTGCCCAAG -3'

Sequencing Primer
(F):5'- TGGGCATCCAGGTCACATG -3'
(R):5'- TGAACTGCCCAAGGTTTCAG -3'

Posted On

2014-06-23