Mutagenetix > Incidental Mutation

Incidental Mutation 'R9339:Atp13a2'

707363

Institutional Source

Beutler Lab

Gene Symbol

Atp13a2

Ensembl Gene

ENSMUSG00000036622

Gene Name

ATPase type 13A2

Synonyms

1110012E06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9339 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140714184-140734641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140730571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 739 (T739A)

Ref Sequence

ENSEMBL: ENSMUSP00000039648 (fasta)

Gene Model

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

AlphaFold

Q9CTG6

Predicted Effect

probably benign
Transcript: ENSMUST00000037055
AA Change: T739A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000039648
Gene: ENSMUSG00000036622
AA Change: T739A

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: T739A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000132183
Gene: ENSMUSG00000036622
AA Change: T739A

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

probably benign
Transcript: ENSMUST00000168047
AA Change: T822A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000126461
Gene: ENSMUSG00000036622
AA Change: T822A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (77/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,667,521 (GRCm39)	E304G	unknown	Het
4933436I01Rik	T	A	X: 66,964,689 (GRCm39)	K57*	probably null	Het
Aar2	T	C	2: 156,392,893 (GRCm39)	V94A	probably benign	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Adam25	T	C	8: 41,206,911 (GRCm39)	V59A	probably damaging	Het
Ampd2	T	C	3: 107,987,616 (GRCm39)	D103G	probably damaging	Het
Ankrd12	A	G	17: 66,291,408 (GRCm39)	S1342P	probably benign	Het
Catsperg1	T	A	7: 28,894,885 (GRCm39)	N571Y	probably benign	Het
Cela3b	A	G	4: 137,152,355 (GRCm39)	I74T	probably damaging	Het
Cfhr1	A	G	1: 139,485,293 (GRCm39)	L51P	probably benign	Het
Cfhr4	T	A	1: 139,682,044 (GRCm39)	Y184F	probably benign	Het
Ckap5	T	A	2: 91,396,100 (GRCm39)	D534E	probably benign	Het
Cstf3	C	T	2: 104,493,778 (GRCm39)	P594L	probably damaging	Het
Ctdp1	A	G	18: 80,492,689 (GRCm39)	L602P	probably damaging	Het
Defa24	A	G	8: 22,224,559 (GRCm39)	T3A	probably damaging	Het
Dmgdh	A	G	13: 93,847,941 (GRCm39)	H546R	probably benign	Het
Dscam	A	G	16: 96,517,263 (GRCm39)	V882A	possibly damaging	Het
Dydc2	A	G	14: 40,771,260 (GRCm39)	*140Q	probably null	Het
Ehd4	T	C	2: 119,921,708 (GRCm39)	D516G	possibly damaging	Het
En1	T	C	1: 120,534,893 (GRCm39)	V394A	unknown	Het
Erich3	T	G	3: 154,468,872 (GRCm39)	L1108R	unknown	Het
Erp27	A	G	6: 136,896,945 (GRCm39)	S86P	probably benign	Het
Esr1	A	C	10: 4,696,798 (GRCm39)	S216R	probably damaging	Het
Fbxo40	A	T	16: 36,789,286 (GRCm39)	I608N	probably damaging	Het
Fcna	G	A	2: 25,517,782 (GRCm39)	Q23*	probably null	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gata6	A	G	18: 11,054,520 (GRCm39)	T150A	probably damaging	Het
Gbp2b	T	A	3: 142,317,178 (GRCm39)	H511Q	probably benign	Het
Gpr171	C	A	3: 59,005,362 (GRCm39)	V138L	probably damaging	Het
Grhl2	G	A	15: 37,344,904 (GRCm39)	V509I	probably benign	Het
Gzmd	G	A	14: 56,367,869 (GRCm39)	P135S	probably damaging	Het
Hhatl	C	A	9: 121,618,862 (GRCm39)	C90F	probably benign	Het
Hspg2	A	G	4: 137,278,480 (GRCm39)	K3050R	probably benign	Het
Kcnh3	T	C	15: 99,130,786 (GRCm39)	Y468H	probably damaging	Het
Lhfpl6	A	G	3: 52,950,891 (GRCm39)	H55R	probably benign	Het
Lpgat1	T	C	1: 191,451,488 (GRCm39)	V38A	probably benign	Het
Lrrc49	A	G	9: 60,510,031 (GRCm39)	I479T	probably benign	Het
Map1b	A	T	13: 99,567,570 (GRCm39)	I1717N	unknown	Het
Map3k20	G	T	2: 72,272,216 (GRCm39)	R781S	possibly damaging	Het
Mcm3ap	A	G	10: 76,306,358 (GRCm39)	E157G	probably benign	Het
Mylk2	A	G	2: 152,755,370 (GRCm39)	E178G	probably damaging	Het
Naaladl2	A	G	3: 24,057,146 (GRCm39)	L605P	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nt5el	C	T	13: 105,246,114 (GRCm39)	T225I	probably benign	Het
Or10h28	T	C	17: 33,488,631 (GRCm39)	V311A	probably benign	Het
Or4a76	T	C	2: 89,460,555 (GRCm39)	E229G	probably damaging	Het
Padi3	A	T	4: 140,522,928 (GRCm39)	I348N	probably benign	Het
Pcdh18	T	C	3: 49,709,335 (GRCm39)	D660G	probably damaging	Het
Pdgfra	T	A	5: 75,355,635 (GRCm39)	S1048R	probably damaging	Het
Pkhd1l1	T	C	15: 44,452,949 (GRCm39)	V3958A	probably damaging	Het
Ppargc1b	C	A	18: 61,456,267 (GRCm39)	C80F	probably damaging	Het
Rbm28	T	C	6: 29,128,674 (GRCm39)	E590G	probably benign	Het
Rbm47	T	C	5: 66,183,826 (GRCm39)	E259G	possibly damaging	Het
Rint1	A	G	5: 23,993,355 (GRCm39)	*37W	probably null	Het
Sacs	G	A	14: 61,443,309 (GRCm39)	R1785Q	probably benign	Het
Samm50	T	C	15: 84,095,276 (GRCm39)	C421R	probably benign	Het
Scnn1b	G	T	7: 121,511,254 (GRCm39)	A314S	probably damaging	Het
Sf3b3	C	A	8: 111,542,854 (GRCm39)	V868L	probably benign	Het
Sirt5	G	T	13: 43,530,327 (GRCm39)	V136L	probably benign	Het
Slc1a7	T	C	4: 107,850,237 (GRCm39)	V116A	probably damaging	Het
Slc24a4	G	A	12: 102,230,638 (GRCm39)	V510M	probably damaging	Het
Slc35f5	T	C	1: 125,517,628 (GRCm39)	I116T	probably benign	Het
Spata4	T	C	8: 55,053,899 (GRCm39)	S22P	probably benign	Het
Sqstm1	A	G	11: 50,091,725 (GRCm39)	V324A	probably benign	Het
Stmnd1	G	A	13: 46,453,079 (GRCm39)	A252T	probably benign	Het
Tbl1xr1	C	A	3: 22,258,150 (GRCm39)	N470K	possibly damaging	Het
Thap12	T	C	7: 98,364,323 (GRCm39)	S164P	possibly damaging	Het
Thsd1	A	G	8: 22,733,898 (GRCm39)	Y315C	probably damaging	Het
Tnni2	C	A	7: 141,997,672 (GRCm39)	D102E	probably damaging	Het
Trav7n-4	A	C	14: 53,328,849 (GRCm39)	N16T	probably benign	Het
Trpm7	T	C	2: 126,665,906 (GRCm39)	K900R	probably benign	Het
Tspoap1	T	A	11: 87,668,839 (GRCm39)	C1371S	probably benign	Het
Tssk5	A	G	15: 76,257,156 (GRCm39)	M242T	possibly damaging	Het
Ubn2	A	G	6: 38,460,079 (GRCm39)	I607V	probably benign	Het
Ubr2	A	T	17: 47,284,865 (GRCm39)	V551E	probably benign	Het
Vipr2	A	G	12: 116,058,344 (GRCm39)	N87S	probably damaging	Het
Vmn2r18	T	A	5: 151,485,132 (GRCm39)	K787N	probably damaging	Het
Wwc2	A	T	8: 48,353,859 (GRCm39)	W92R	probably damaging	Het
Zfp141	A	G	7: 42,125,639 (GRCm39)	Y278H	probably damaging	Het
Zfp827	T	C	8: 79,844,887 (GRCm39)	S686P	probably benign	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
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
Z1176:Atp13a2	UTSW	4	140,732,428 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TATCTGGAGGGAGGTGCTAAGC -3'
(R):5'- GAACTCATCCCTCTCTGAGC -3'

Sequencing Primer
(F):5'- TGCTAAGCCCAGGCAGTTC -3'
(R):5'- TCTGAGCCCCAGAGCTCTG -3'

Posted On

2022-04-18