Mutagenetix > Incidental Mutation

Incidental Mutation 'R1837:Atp13a2'

205381

Institutional Source

Beutler Lab

Gene Symbol

Atp13a2

Ensembl Gene

ENSMUSG00000036622

Gene Name

ATPase type 13A2

Synonyms

1110012E06Rik

MMRRC Submission

039864-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1837 (G1)

Quality Score

194

Status

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: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,394,962 (GRCm39)	G305W	probably damaging	Het
Actr3b	A	T	5: 26,030,157 (GRCm39)	T74S	probably benign	Het
Add2	A	G	6: 86,095,540 (GRCm39)	E652G	probably damaging	Het
Alg9	T	A	9: 50,717,615 (GRCm39)	V83D	probably damaging	Het
BB014433	C	G	8: 15,092,629 (GRCm39)	V75L	unknown	Het
Bcr	A	G	10: 75,003,932 (GRCm39)		probably benign	Het
Begain	G	A	12: 109,001,249 (GRCm39)		probably benign	Het
Bzw1	A	G	1: 58,439,277 (GRCm39)	K67E	probably damaging	Het
Ccdc141	T	C	2: 76,842,009 (GRCm39)	E1474G	probably benign	Het
Cdc73	T	A	1: 143,543,395 (GRCm39)	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813 (GRCm39)	T31A	probably damaging	Het
Cfap58	G	A	19: 48,017,578 (GRCm39)	E813K	probably damaging	Het
Clstn2	C	A	9: 97,465,593 (GRCm39)	A133S	probably benign	Het
Col14a1	A	T	15: 55,245,891 (GRCm39)	D465V	unknown	Het
Col2a1	C	T	15: 97,894,522 (GRCm39)		probably benign	Het
Dab2	A	G	15: 6,365,957 (GRCm39)		probably benign	Het
Eme1	T	C	11: 94,536,787 (GRCm39)	D464G	probably benign	Het
Eml6	T	C	11: 29,699,802 (GRCm39)		probably null	Het
Ern1	C	A	11: 106,349,783 (GRCm39)	L44F	probably damaging	Het
Fam111a	T	A	19: 12,564,816 (GRCm39)	S188R	probably benign	Het
Fam151b	A	T	13: 92,610,639 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,750,379 (GRCm39)	N226D	probably benign	Het
Ggt1	A	G	10: 75,415,128 (GRCm39)	D214G	probably benign	Het
Gm14226	A	G	2: 154,866,930 (GRCm39)	I296V	probably benign	Het
Gm9915	A	T	1: 42,269,847 (GRCm39)		noncoding transcript	Het
Heatr5b	T	C	17: 79,128,180 (GRCm39)	D485G	possibly damaging	Het
Helz2	A	T	2: 180,871,082 (GRCm39)	I2785N	probably damaging	Het
Htt	C	T	5: 34,976,367 (GRCm39)	T723M	probably benign	Het
Hydin	C	A	8: 111,296,257 (GRCm39)	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,797,579 (GRCm39)	D96G	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
Krt7	A	G	15: 101,317,463 (GRCm39)	D252G	probably benign	Het
Lad1	C	A	1: 135,757,444 (GRCm39)	D394E	probably benign	Het
Lhx8	A	T	3: 154,033,692 (GRCm39)	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,305,037 (GRCm39)	T280M	probably damaging	Het
Magi2	A	T	5: 20,670,825 (GRCm39)	T163S	probably damaging	Het
Med1	G	T	11: 98,060,238 (GRCm39)	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409 (GRCm39)	F171I	probably damaging	Het
Mprip	T	C	11: 59,657,571 (GRCm39)	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,639,273 (GRCm39)	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,360,823 (GRCm39)	M1378K	probably benign	Het
Myo3a	A	T	2: 22,467,604 (GRCm39)	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,138,408 (GRCm39)	G391R	probably damaging	Het
Nefl	C	T	14: 68,324,075 (GRCm39)	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,439,742 (GRCm39)	V440I	probably benign	Het
Notch3	A	T	17: 32,343,296 (GRCm39)	L1959Q	probably damaging	Het
Noto	A	G	6: 85,401,159 (GRCm39)	T63A	probably benign	Het
Oc90	G	A	15: 65,761,529 (GRCm39)	T163M	probably damaging	Het
Or1l4	T	A	2: 37,092,114 (GRCm39)	M287K	probably benign	Het
Or4c114	A	T	2: 88,905,176 (GRCm39)	Y86*	probably null	Het
Or5an10	A	G	19: 12,275,740 (GRCm39)	V252A	probably damaging	Het
Pdpr	C	A	8: 111,861,366 (GRCm39)	P787T	probably damaging	Het
Phlda1	A	G	10: 111,343,092 (GRCm39)	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,699,885 (GRCm39)	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,177,531 (GRCm39)	E1364G	probably benign	Het
Rabep1	T	A	11: 70,795,484 (GRCm39)	W237R	probably damaging	Het
Rai1	A	T	11: 60,080,224 (GRCm39)	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,627,438 (GRCm39)	I1027M	probably damaging	Het
Rit1	C	G	3: 88,636,477 (GRCm39)	T127S	probably damaging	Het
Rpap1	A	C	2: 119,600,366 (GRCm39)		probably null	Het
Senp7	T	A	16: 55,978,879 (GRCm39)	C471S	probably benign	Het
Slc16a14	A	G	1: 84,890,120 (GRCm39)	V395A	probably benign	Het
Slc45a1	C	T	4: 150,722,916 (GRCm39)	G323S	probably benign	Het
Syne2	A	T	12: 76,014,434 (GRCm39)	E3208D	probably damaging	Het
Tap1	C	T	17: 34,407,083 (GRCm39)	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,577,799 (GRCm39)	E432G	possibly damaging	Het
Tmem192	C	A	8: 65,416,992 (GRCm39)		probably benign	Het
Trub1	T	C	19: 57,441,461 (GRCm39)	V28A	probably benign	Het
Ttc21b	A	T	2: 66,028,106 (GRCm39)	L1121H	probably benign	Het
Ttc38	A	G	15: 85,735,764 (GRCm39)	D290G	probably damaging	Het
Ulk1	C	T	5: 110,937,247 (GRCm39)	G683D	probably damaging	Het
Vmn1r122	A	T	7: 20,867,291 (GRCm39)	F255I	probably benign	Het
Vmn2r68	T	A	7: 84,882,886 (GRCm39)	I289F	probably damaging	Het
Vps39	A	T	2: 120,155,878 (GRCm39)	L514H	probably damaging	Het
Wdr48	T	G	9: 119,734,482 (GRCm39)	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,350 (GRCm39)	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,076,107 (GRCm39)	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,569,048 (GRCm39)	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264 (GRCm39)	S927P	probably damaging	Het
Zfp324	C	T	7: 12,704,156 (GRCm39)	T115I	probably benign	Het
Zfp523	T	A	17: 28,413,967 (GRCm39)	I34N	probably damaging	Het
Zfp945	A	T	17: 23,070,247 (GRCm39)	C551S	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
R1838: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'- AACTGCCCAAGGTTTCAGGG -3'

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

Posted On

2014-06-23