Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Atp13a2'

227932

Institutional Source

Beutler Lab

Gene Symbol

Atp13a2

Ensembl Gene

ENSMUSG00000036622

Gene Name

ATPase type 13A2

Synonyms

1110012E06Rik

MMRRC Submission

040133-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140714184-140734641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140732327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 864 (M864K)

Ref Sequence

ENSEMBL: ENSMUSP00000039648 (fasta)

Gene Model

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

AlphaFold

Q9CTG6

Predicted Effect

probably damaging
Transcript: ENSMUST00000037055
AA Change: M864K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: M864K

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 damaging
Transcript: ENSMUST00000127833
AA Change: M864K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: M864K

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 damaging
Transcript: ENSMUST00000168047
AA Change: M947K

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: M947K

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

Meta Mutation Damage Score

0.9282

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Aadacl2fm3	T	C	3: 59,772,769 (GRCm39)	V91A	probably damaging	Het
Adgrl2	T	C	3: 148,596,124 (GRCm39)	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,729,846 (GRCm39)	T212A	possibly damaging	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Apaf1	A	T	10: 90,896,027 (GRCm39)	Y348*	probably null	Het
Apobr	A	G	7: 126,186,378 (GRCm39)	T630A	probably benign	Het
Arhgap23	A	G	11: 97,342,387 (GRCm39)	D223G	possibly damaging	Het
Asic1	A	T	15: 99,569,756 (GRCm39)	T26S	possibly damaging	Het
Atrnl1	G	A	19: 57,643,426 (GRCm39)	G438D	probably damaging	Het
Bbc3	T	C	7: 16,046,268 (GRCm39)	V68A	possibly damaging	Het
Birc6	T	C	17: 74,966,149 (GRCm39)		probably benign	Het
Btnl9	A	G	11: 49,071,523 (GRCm39)	F100S	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccpg1	A	G	9: 72,920,440 (GRCm39)	N685S	probably damaging	Het
Ces3b	T	A	8: 105,819,607 (GRCm39)		probably null	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clhc1	A	G	11: 29,507,663 (GRCm39)	I126V	probably benign	Het
Crocc	T	C	4: 140,756,413 (GRCm39)	I1071V	probably benign	Het
Dbt	T	A	3: 116,332,773 (GRCm39)	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,271,370 (GRCm39)	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,468,217 (GRCm39)	V77A	probably benign	Het
Dram2	T	A	3: 106,478,076 (GRCm39)	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,040,894 (GRCm39)	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253 (GRCm39)	W3654R	probably damaging	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fgf17	T	C	14: 70,875,927 (GRCm39)	R102G	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm6578	C	A	6: 12,100,186 (GRCm39)		noncoding transcript	Het
Gm8374	T	C	14: 18,537,078 (GRCm39)	T49A	probably damaging	Het
Gm9797	G	T	10: 11,485,113 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,350,805 (GRCm39)		probably null	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Isoc2b	A	T	7: 4,854,438 (GRCm39)	I31N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Krtap16-1	A	T	11: 99,876,602 (GRCm39)	C267*	probably null	Het
Lamc2	T	A	1: 153,002,870 (GRCm39)	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,328,557 (GRCm39)	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,232,068 (GRCm39)	F214S	probably damaging	Het
Mki67	T	A	7: 135,305,970 (GRCm39)		probably null	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 125,989,634 (GRCm39)	V250A	probably benign	Het
Niban2	A	G	2: 32,813,659 (GRCm39)	K624R	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Olfml3	T	A	3: 103,643,185 (GRCm39)	M399L	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or56a5	T	A	7: 104,792,757 (GRCm39)	I254F	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psph	T	A	5: 129,864,603 (GRCm39)		probably null	Het
Ptpro	A	G	6: 137,388,114 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,339,243 (GRCm39)		probably benign	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Rnf17	T	C	14: 56,730,811 (GRCm39)	V1205A	probably damaging	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Sgo2b	T	C	8: 64,380,181 (GRCm39)	R884G	probably benign	Het
Slc10a5	G	T	3: 10,400,278 (GRCm39)	D127E	probably benign	Het
Slc25a35	T	G	11: 68,859,791 (GRCm39)	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,302,000 (GRCm39)	L194P	possibly damaging	Het
Snw1	T	G	12: 87,499,473 (GRCm39)		probably benign	Het
Sort1	T	A	3: 108,259,002 (GRCm39)	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764 (GRCm39)		probably benign	Het
Ssxa1	T	A	X: 20,985,581 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tacr3	T	C	3: 134,637,941 (GRCm39)	V366A	probably benign	Het
Tasor	T	A	14: 27,168,345 (GRCm39)	Y296N	probably damaging	Het
Tasor	A	G	14: 27,198,571 (GRCm39)	N1301S	possibly damaging	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,573,405 (GRCm39)	I279T	probably damaging	Het
Tmem98	A	G	11: 80,708,348 (GRCm39)	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttn	T	C	2: 76,572,861 (GRCm39)	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,500,815 (GRCm39)	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,546 (GRCm39)	I1683N	probably benign	Het
Vps13d	C	T	4: 144,882,671 (GRCm39)	R968H	probably benign	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Vwf	C	T	6: 125,634,020 (GRCm39)	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp459	A	T	13: 67,556,395 (GRCm39)	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,842,648 (GRCm39)	Y15*	probably null	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
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
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'- TTGAGAGATCTTGGGATCCATCC -3'
(R):5'- ACAGACAGGACATCAGCTGC -3'

Sequencing Primer
(F):5'- TCCCGAACACGGTAAAAGATCAGG -3'
(R):5'- AGGACATCAGCTGCTCCAG -3'

Posted On

2014-09-17