Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Atp13a5'

59745

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

038821-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0632 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29231851-29378732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29298208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 529 (D529G)

Ref Sequence

ENSEMBL: ENSMUSP00000121208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373]

AlphaFold

Q3TYU2

Predicted Effect

probably benign
Transcript: ENSMUST00000075806
AA Change: D574G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: D574G

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	4.1e-31	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	228	475	1.5e-35	PFAM
Pfam:Hydrolase	480	759	2.7e-11	PFAM
Pfam:HAD	483	857	1.1e-28	PFAM
Pfam:Cation_ATPase	564	638	1.3e-6	PFAM
transmembrane domain	901	923	N/A	INTRINSIC
transmembrane domain	933	950	N/A	INTRINSIC
transmembrane domain	971	993	N/A	INTRINSIC
transmembrane domain	1042	1061	N/A	INTRINSIC
transmembrane domain	1070	1092	N/A	INTRINSIC
transmembrane domain	1107	1129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142681
AA Change: D574G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: D574G

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	7.5e-25	PFAM
Cation_ATPase_N	163	223	8.78e0	SMART
Pfam:E1-E2_ATPase	229	475	1e-36	PFAM
Pfam:Hydrolase	480	860	5.9e-16	PFAM
Pfam:HAD	483	857	4e-27	PFAM
Pfam:Hydrolase_like2	565	638	3.7e-8	PFAM
transmembrane domain	901	923	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143373
AA Change: D529G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: D529G

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	142	1e-24	PFAM
Pfam:E1-E2_ATPase	196	430	3.2e-34	PFAM
Pfam:Hydrolase	435	815	9.1e-16	PFAM
Pfam:HAD	438	812	6.2e-27	PFAM
Pfam:Hydrolase_like2	520	593	4.8e-8	PFAM
transmembrane domain	856	878	N/A	INTRINSIC
transmembrane domain	888	905	N/A	INTRINSIC
transmembrane domain	926	948	N/A	INTRINSIC
transmembrane domain	997	1016	N/A	INTRINSIC
transmembrane domain	1025	1047	N/A	INTRINSIC
transmembrane domain	1062	1084	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice show a decreased mean percentage of natural killer cells when compared with controls. Male homozygous mutant mice exhibit impaired sensorimotor gating/attention during prepulse inhibition testing. [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
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc109b	T	C	3: 129,918,726	M167V	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Slc6a2	T	A	8: 92,992,801		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Atp13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp13a5	APN	16	29267014	nonsense	probably null
IGL00583:Atp13a5	APN	16	29275453	splice site	probably benign
IGL01472:Atp13a5	APN	16	29275423	missense	probably damaging	1.00
IGL01473:Atp13a5	APN	16	29316724	missense	probably damaging	1.00
IGL02142:Atp13a5	APN	16	29234563	missense	probably benign	0.01
IGL02346:Atp13a5	APN	16	29327736	nonsense	probably null
IGL02454:Atp13a5	APN	16	29232808	missense	probably benign	0.35
IGL02557:Atp13a5	APN	16	29248182	missense	probably benign	0.24
IGL02651:Atp13a5	APN	16	29334091	splice site	probably benign
IGL02697:Atp13a5	APN	16	29348532	missense	probably benign
IGL02704:Atp13a5	APN	16	29251328	nonsense	probably null
IGL02993:Atp13a5	APN	16	29293504	nonsense	probably null
IGL03329:Atp13a5	APN	16	29334065	nonsense	probably null
IGL03346:Atp13a5	APN	16	29314604	missense	probably benign	0.15
IGL03493:Atp13a5	APN	16	29297524	missense	probably benign
PIT4810001:Atp13a5	UTSW	16	29314564	missense	probably damaging	1.00
R0356:Atp13a5	UTSW	16	29348755	splice site	probably benign
R0393:Atp13a5	UTSW	16	29266929	splice site	probably benign
R0456:Atp13a5	UTSW	16	29232740	missense	probably benign	0.03
R0526:Atp13a5	UTSW	16	29348740	missense	probably damaging	0.97
R0674:Atp13a5	UTSW	16	29248350	splice site	probably benign
R1417:Atp13a5	UTSW	16	29298235	missense	probably benign	0.00
R1470:Atp13a5	UTSW	16	29349015	missense	probably benign	0.19
R1470:Atp13a5	UTSW	16	29349015	missense	probably benign	0.19
R1515:Atp13a5	UTSW	16	29333974	missense	probably benign	0.23
R1659:Atp13a5	UTSW	16	29293433	missense	probably benign
R1723:Atp13a5	UTSW	16	29232799	missense	possibly damaging	0.88
R1779:Atp13a5	UTSW	16	29314660	missense	possibly damaging	0.67
R1794:Atp13a5	UTSW	16	29321709	missense	probably damaging	1.00
R1958:Atp13a5	UTSW	16	29314601	missense	probably damaging	1.00
R2218:Atp13a5	UTSW	16	29321646	missense	probably damaging	0.99
R2282:Atp13a5	UTSW	16	29237321	missense	probably damaging	1.00
R2356:Atp13a5	UTSW	16	29281069	missense	probably damaging	1.00
R2365:Atp13a5	UTSW	16	29251256	missense	probably benign	0.00
R2497:Atp13a5	UTSW	16	29339071	nonsense	probably null
R2517:Atp13a5	UTSW	16	29297397	missense	possibly damaging	0.79
R3552:Atp13a5	UTSW	16	29310766	missense	probably damaging	1.00
R3685:Atp13a5	UTSW	16	29316755	missense	probably damaging	1.00
R3957:Atp13a5	UTSW	16	29298194	missense	probably benign	0.01
R4433:Atp13a5	UTSW	16	29282024	missense	probably damaging	0.99
R4503:Atp13a5	UTSW	16	29293528	missense	probably benign	0.37
R4579:Atp13a5	UTSW	16	29248338	critical splice acceptor site	probably null
R4632:Atp13a5	UTSW	16	29348719	missense	probably damaging	1.00
R4718:Atp13a5	UTSW	16	29248170	missense	probably damaging	1.00
R4865:Atp13a5	UTSW	16	29248160	missense	probably damaging	0.98
R4899:Atp13a5	UTSW	16	29378500	missense	probably damaging	1.00
R4909:Atp13a5	UTSW	16	29334028	missense	possibly damaging	0.81
R5011:Atp13a5	UTSW	16	29350748	missense	probably damaging	1.00
R5013:Atp13a5	UTSW	16	29350748	missense	probably damaging	1.00
R5032:Atp13a5	UTSW	16	29263450	missense	probably damaging	1.00
R5226:Atp13a5	UTSW	16	29248279	missense	probably damaging	1.00
R5485:Atp13a5	UTSW	16	29281942	critical splice donor site	probably null
R5598:Atp13a5	UTSW	16	29257077	intron	probably benign
R5945:Atp13a5	UTSW	16	29237243	missense	probably benign	0.06
R5958:Atp13a5	UTSW	16	29339042	missense	probably damaging	1.00
R6194:Atp13a5	UTSW	16	29308239	missense	probably damaging	1.00
R6214:Atp13a5	UTSW	16	29251407	missense	probably damaging	1.00
R6273:Atp13a5	UTSW	16	29348737	missense	probably benign	0.10
R6376:Atp13a5	UTSW	16	29237252	missense	probably benign	0.00
R6431:Atp13a5	UTSW	16	29251402	missense	possibly damaging	0.93
R6495:Atp13a5	UTSW	16	29321622	critical splice donor site	probably null
R6619:Atp13a5	UTSW	16	29349015	missense	probably benign	0.05
R6853:Atp13a5	UTSW	16	29321662	missense	possibly damaging	0.94
R6932:Atp13a5	UTSW	16	29281951	missense	probably damaging	1.00
R7070:Atp13a5	UTSW	16	29334061	missense	possibly damaging	0.88
R7343:Atp13a5	UTSW	16	29321749	missense	probably benign	0.01
R7425:Atp13a5	UTSW	16	29297460	nonsense	probably null
R7570:Atp13a5	UTSW	16	29266963	missense	probably damaging	1.00
R7781:Atp13a5	UTSW	16	29297408	missense	probably benign	0.00
R7876:Atp13a5	UTSW	16	29321748	missense	possibly damaging	0.93
R8358:Atp13a5	UTSW	16	29348987	missense	probably damaging	1.00
R8427:Atp13a5	UTSW	16	29349002	missense	possibly damaging	0.65
R8435:Atp13a5	UTSW	16	29280929	critical splice donor site	probably null
R8830:Atp13a5	UTSW	16	29248176	missense	probably damaging	1.00
R8946:Atp13a5	UTSW	16	29327783	missense	probably damaging	0.99
R8950:Atp13a5	UTSW	16	29378496	missense	probably damaging	1.00
R9222:Atp13a5	UTSW	16	29314654	missense	probably damaging	1.00
R9454:Atp13a5	UTSW	16	29314520	missense	possibly damaging	0.55
R9756:Atp13a5	UTSW	16	29232831	frame shift	probably null
R9769:Atp13a5	UTSW	16	29348695	nonsense	probably null
R9797:Atp13a5	UTSW	16	29314673	missense	probably benign	0.00
X0023:Atp13a5	UTSW	16	29310782	missense	probably damaging	1.00
Z1088:Atp13a5	UTSW	16	29282062	missense	probably benign	0.06
Z1177:Atp13a5	UTSW	16	29280969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGCAGGCTCATTGTGAAG -3'
(R):5'- GCTGTTGTGCTCAACACTGGAGAAC -3'

Sequencing Primer
(F):5'- GGACACTCACTGAGTTATTTGC -3'
(R):5'- AGAGTTGCCCTATGGCCTG -3'

Posted On

2013-07-11