Mutagenetix > Incidental Mutation

Incidental Mutation 'R4433:Atp13a5'

328718

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

041147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29100842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 649 (M649K)

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: M694K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: M694K

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

noncoding transcript
Transcript: ENSMUST00000117427

Predicted Effect

probably damaging
Transcript: ENSMUST00000142681
AA Change: M694K

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

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: M694K

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: M649K

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

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: M649K

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

0.8635

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,186,937 (GRCm39)		probably null	Het
Acsm2	A	G	7: 119,153,732 (GRCm39)	H14R	unknown	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ak5	A	G	3: 152,361,517 (GRCm39)	I135T	probably damaging	Het
Alk	G	T	17: 72,206,236 (GRCm39)	S1038*	probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Ap2m1	A	T	16: 20,362,134 (GRCm39)	H414L	possibly damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Calhm6	T	A	10: 34,003,827 (GRCm39)	T27S	probably damaging	Het
Cdc25b	A	G	2: 131,033,618 (GRCm39)	S186G	probably benign	Het
Ceacam16	A	G	7: 19,587,514 (GRCm39)	V418A	possibly damaging	Het
Cntnap3	A	C	13: 64,926,667 (GRCm39)	S568A	possibly damaging	Het
Col24a1	G	T	3: 145,020,144 (GRCm39)	V172F	possibly damaging	Het
Dynlt4	C	T	4: 116,985,320 (GRCm39)	R48C	probably damaging	Het
Eef2	CCC	CCCC	10: 81,014,602 (GRCm39)		probably null	Het
Esp36	T	A	17: 38,729,847 (GRCm39)	T15S	unknown	Het
Fat2	A	T	11: 55,200,466 (GRCm39)	H869Q	possibly damaging	Het
Fat3	A	G	9: 15,942,448 (GRCm39)	V1308A	probably damaging	Het
Gimap3	T	C	6: 48,742,880 (GRCm39)	T17A	possibly damaging	Het
Hnrnpr	A	G	4: 136,044,459 (GRCm39)	K13R	probably benign	Het
Hycc1	A	C	5: 24,184,579 (GRCm39)	C218G	possibly damaging	Het
Kdr	A	G	5: 76,104,585 (GRCm39)	M1133T	possibly damaging	Het
Mgarp	A	G	3: 51,303,681 (GRCm39)		probably benign	Het
Neto2	G	A	8: 86,367,712 (GRCm39)	T337I	probably damaging	Het
Nfib	C	T	4: 82,416,672 (GRCm39)	R137Q	probably damaging	Het
Nherf4	T	C	9: 44,159,285 (GRCm39)	*499W	probably null	Het
Nr3c2	A	G	8: 77,944,096 (GRCm39)	E890G	probably damaging	Het
Nsun4	A	G	4: 115,897,327 (GRCm39)	V228A	possibly damaging	Het
Nt5c1a	T	A	4: 123,109,689 (GRCm39)	S263T	probably benign	Het
Ntm	A	T	9: 28,923,516 (GRCm39)	Y45*	probably null	Het
Nts	A	G	10: 102,320,888 (GRCm39)	V67A	probably benign	Het
Or1e19	A	T	11: 73,316,537 (GRCm39)	S91T	possibly damaging	Het
Or1e25	A	G	11: 73,493,712 (GRCm39)	Y102C	probably damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Or51ag1	T	A	7: 103,155,346 (GRCm39)	K269M	probably benign	Het
Ostm1	C	A	10: 42,555,119 (GRCm39)	A47E	probably benign	Het
Otol1	G	A	3: 69,925,881 (GRCm39)	V19M	probably benign	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcdhgb1	T	C	18: 37,814,304 (GRCm39)	I265T	probably damaging	Het
Pex14	T	C	4: 149,045,967 (GRCm39)	E321G	possibly damaging	Het
Phactr3	C	A	2: 177,924,925 (GRCm39)	R251S	probably damaging	Het
Pkdcc	C	T	17: 83,528,570 (GRCm39)	T313M	probably benign	Het
Plce1	A	T	19: 38,755,745 (GRCm39)	E1911V	probably damaging	Het
Ptprv	G	T	1: 135,042,308 (GRCm39)		noncoding transcript	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rhob	A	G	12: 8,549,533 (GRCm39)	Y34H	possibly damaging	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc9c1	A	T	16: 45,419,829 (GRCm39)	I1000F	possibly damaging	Het
Tcf7	G	T	11: 52,152,442 (GRCm39)	P36T	probably benign	Het
Tcf7l1	C	G	6: 72,765,752 (GRCm39)	E62Q	probably damaging	Het
Tll2	A	G	19: 41,109,787 (GRCm39)	S326P	probably benign	Het
Tubgcp4	A	G	2: 121,014,954 (GRCm39)	N288S	probably benign	Het
Zfhx3	G	A	8: 109,682,269 (GRCm39)	R3236H	unknown	Het
Zfp764l1	T	G	7: 126,992,174 (GRCm39)	Q87P	possibly damaging	Het
Zgrf1	A	G	3: 127,355,727 (GRCm39)	T318A	probably benign	Het

Other mutations in Atp13a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Atp13a5	APN	16	29,085,766 (GRCm39)	nonsense	probably null
IGL00583:Atp13a5	APN	16	29,094,205 (GRCm39)	splice site	probably benign
IGL01472:Atp13a5	APN	16	29,094,175 (GRCm39)	missense	probably damaging	1.00
IGL01473:Atp13a5	APN	16	29,135,542 (GRCm39)	missense	probably damaging	1.00
IGL02142:Atp13a5	APN	16	29,053,315 (GRCm39)	missense	probably benign	0.01
IGL02346:Atp13a5	APN	16	29,146,554 (GRCm39)	nonsense	probably null
IGL02454:Atp13a5	APN	16	29,051,560 (GRCm39)	missense	probably benign	0.35
IGL02557:Atp13a5	APN	16	29,066,934 (GRCm39)	missense	probably benign	0.24
IGL02651:Atp13a5	APN	16	29,152,909 (GRCm39)	splice site	probably benign
IGL02697:Atp13a5	APN	16	29,167,350 (GRCm39)	missense	probably benign
IGL02704:Atp13a5	APN	16	29,070,080 (GRCm39)	nonsense	probably null
IGL02993:Atp13a5	APN	16	29,112,322 (GRCm39)	nonsense	probably null
IGL03329:Atp13a5	APN	16	29,152,883 (GRCm39)	nonsense	probably null
IGL03346:Atp13a5	APN	16	29,133,422 (GRCm39)	missense	probably benign	0.15
IGL03493:Atp13a5	APN	16	29,116,342 (GRCm39)	missense	probably benign
PIT4810001:Atp13a5	UTSW	16	29,133,382 (GRCm39)	missense	probably damaging	1.00
R0356:Atp13a5	UTSW	16	29,167,573 (GRCm39)	splice site	probably benign
R0393:Atp13a5	UTSW	16	29,085,681 (GRCm39)	splice site	probably benign
R0456:Atp13a5	UTSW	16	29,051,492 (GRCm39)	missense	probably benign	0.03
R0526:Atp13a5	UTSW	16	29,167,558 (GRCm39)	missense	probably damaging	0.97
R0632:Atp13a5	UTSW	16	29,117,026 (GRCm39)	missense	probably benign	0.00
R0674:Atp13a5	UTSW	16	29,067,102 (GRCm39)	splice site	probably benign
R1417:Atp13a5	UTSW	16	29,117,053 (GRCm39)	missense	probably benign	0.00
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1470:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.19
R1515:Atp13a5	UTSW	16	29,152,792 (GRCm39)	missense	probably benign	0.23
R1659:Atp13a5	UTSW	16	29,112,251 (GRCm39)	missense	probably benign
R1723:Atp13a5	UTSW	16	29,051,551 (GRCm39)	missense	possibly damaging	0.88
R1779:Atp13a5	UTSW	16	29,133,478 (GRCm39)	missense	possibly damaging	0.67
R1794:Atp13a5	UTSW	16	29,140,527 (GRCm39)	missense	probably damaging	1.00
R1958:Atp13a5	UTSW	16	29,133,419 (GRCm39)	missense	probably damaging	1.00
R2218:Atp13a5	UTSW	16	29,140,464 (GRCm39)	missense	probably damaging	0.99
R2282:Atp13a5	UTSW	16	29,056,073 (GRCm39)	missense	probably damaging	1.00
R2356:Atp13a5	UTSW	16	29,099,887 (GRCm39)	missense	probably damaging	1.00
R2365:Atp13a5	UTSW	16	29,070,008 (GRCm39)	missense	probably benign	0.00
R2497:Atp13a5	UTSW	16	29,157,889 (GRCm39)	nonsense	probably null
R2517:Atp13a5	UTSW	16	29,116,215 (GRCm39)	missense	possibly damaging	0.79
R3552:Atp13a5	UTSW	16	29,129,584 (GRCm39)	missense	probably damaging	1.00
R3685:Atp13a5	UTSW	16	29,135,573 (GRCm39)	missense	probably damaging	1.00
R3957:Atp13a5	UTSW	16	29,117,012 (GRCm39)	missense	probably benign	0.01
R4503:Atp13a5	UTSW	16	29,112,346 (GRCm39)	missense	probably benign	0.37
R4579:Atp13a5	UTSW	16	29,067,090 (GRCm39)	critical splice acceptor site	probably null
R4632:Atp13a5	UTSW	16	29,167,537 (GRCm39)	missense	probably damaging	1.00
R4718:Atp13a5	UTSW	16	29,066,922 (GRCm39)	missense	probably damaging	1.00
R4865:Atp13a5	UTSW	16	29,066,912 (GRCm39)	missense	probably damaging	0.98
R4899:Atp13a5	UTSW	16	29,197,318 (GRCm39)	missense	probably damaging	1.00
R4909:Atp13a5	UTSW	16	29,152,846 (GRCm39)	missense	possibly damaging	0.81
R5011:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5013:Atp13a5	UTSW	16	29,169,566 (GRCm39)	missense	probably damaging	1.00
R5032:Atp13a5	UTSW	16	29,082,202 (GRCm39)	missense	probably damaging	1.00
R5226:Atp13a5	UTSW	16	29,067,031 (GRCm39)	missense	probably damaging	1.00
R5485:Atp13a5	UTSW	16	29,100,760 (GRCm39)	critical splice donor site	probably null
R5598:Atp13a5	UTSW	16	29,075,829 (GRCm39)	intron	probably benign
R5945:Atp13a5	UTSW	16	29,055,995 (GRCm39)	missense	probably benign	0.06
R5958:Atp13a5	UTSW	16	29,157,860 (GRCm39)	missense	probably damaging	1.00
R6194:Atp13a5	UTSW	16	29,127,057 (GRCm39)	missense	probably damaging	1.00
R6214:Atp13a5	UTSW	16	29,070,159 (GRCm39)	missense	probably damaging	1.00
R6273:Atp13a5	UTSW	16	29,167,555 (GRCm39)	missense	probably benign	0.10
R6376:Atp13a5	UTSW	16	29,056,004 (GRCm39)	missense	probably benign	0.00
R6431:Atp13a5	UTSW	16	29,070,154 (GRCm39)	missense	possibly damaging	0.93
R6495:Atp13a5	UTSW	16	29,140,440 (GRCm39)	critical splice donor site	probably null
R6619:Atp13a5	UTSW	16	29,167,833 (GRCm39)	missense	probably benign	0.05
R6853:Atp13a5	UTSW	16	29,140,480 (GRCm39)	missense	possibly damaging	0.94
R6932:Atp13a5	UTSW	16	29,100,769 (GRCm39)	missense	probably damaging	1.00
R7070:Atp13a5	UTSW	16	29,152,879 (GRCm39)	missense	possibly damaging	0.88
R7343:Atp13a5	UTSW	16	29,140,567 (GRCm39)	missense	probably benign	0.01
R7425:Atp13a5	UTSW	16	29,116,278 (GRCm39)	nonsense	probably null
R7570:Atp13a5	UTSW	16	29,085,715 (GRCm39)	missense	probably damaging	1.00
R7781:Atp13a5	UTSW	16	29,116,226 (GRCm39)	missense	probably benign	0.00
R7876:Atp13a5	UTSW	16	29,140,566 (GRCm39)	missense	possibly damaging	0.93
R8358:Atp13a5	UTSW	16	29,167,805 (GRCm39)	missense	probably damaging	1.00
R8427:Atp13a5	UTSW	16	29,167,820 (GRCm39)	missense	possibly damaging	0.65
R8435:Atp13a5	UTSW	16	29,099,747 (GRCm39)	critical splice donor site	probably null
R8830:Atp13a5	UTSW	16	29,066,928 (GRCm39)	missense	probably damaging	1.00
R8946:Atp13a5	UTSW	16	29,146,601 (GRCm39)	missense	probably damaging	0.99
R8950:Atp13a5	UTSW	16	29,197,314 (GRCm39)	missense	probably damaging	1.00
R9222:Atp13a5	UTSW	16	29,133,472 (GRCm39)	missense	probably damaging	1.00
R9454:Atp13a5	UTSW	16	29,133,338 (GRCm39)	missense	possibly damaging	0.55
R9756:Atp13a5	UTSW	16	29,051,583 (GRCm39)	frame shift	probably null
R9769:Atp13a5	UTSW	16	29,167,513 (GRCm39)	nonsense	probably null
R9797:Atp13a5	UTSW	16	29,133,491 (GRCm39)	missense	probably benign	0.00
X0023:Atp13a5	UTSW	16	29,129,600 (GRCm39)	missense	probably damaging	1.00
Z1088:Atp13a5	UTSW	16	29,100,880 (GRCm39)	missense	probably benign	0.06
Z1177:Atp13a5	UTSW	16	29,099,787 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAAACCACTTGCTGTCTGC -3'
(R):5'- CAAGTGACTGTTTTAGGGGAAC -3'

Sequencing Primer
(F):5'- CATCAGTTGCATGGCCTTG -3'
(R):5'- TGGTATGGACACCAGACAACTG -3'

Posted On

2015-07-21