Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Atp13a5'

269021

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29231851-29378732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29310766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 452 (D452V)

Ref Sequence

ENSEMBL: ENSMUSP00000121208 (fasta)

Gene Model

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

AlphaFold

Q3TYU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075806
AA Change: D497V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: D497V

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 damaging
Transcript: ENSMUST00000142681
AA Change: D497V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: D497V

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 damaging
Transcript: ENSMUST00000143373
AA Change: D452V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: D452V

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

0.5455

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
R0632:Atp13a5	UTSW	16	29298208	missense	probably benign	0.00
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
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'- AGATCGACTTTCTTTGTCTGACTTG -3'
(R):5'- CACAGTGTCATGTGGAAGCC -3'

Sequencing Primer
(F):5'- TAATTGGGAGCCAGTGTG -3'
(R):5'- TCCTGGGGATGCTGCACTAAC -3'

Posted On

2015-02-19