Mutagenetix > Incidental Mutations

Incidental Mutation 'R1723:Atp13a5'

191636

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

039755-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1723 (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 29232799 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 1152 (K1152I)

Ref Sequence

ENSEMBL: ENSMUSP00000075204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000089824] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000162747]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075806
AA Change: K1152I

PolyPhen 2 Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: K1152I

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: ENSMUST00000089824

SMART Domains

Protein: ENSMUSP00000087257
Gene: ENSMUSG00000022525

Domain	Start	End	E-Value	Type
Pfam:LRAT	8	132	6.1e-44	PFAM
transmembrane domain	140	159	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142681

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939

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

possibly damaging
Transcript: ENSMUST00000143373
AA Change: K1107I

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: K1107I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160794

Predicted Effect

probably benign
Transcript: ENSMUST00000162747

SMART Domains

Protein: ENSMUSP00000123809
Gene: ENSMUSG00000022525

Domain	Start	End	E-Value	Type
Pfam:LRAT	13	132	7.5e-41	PFAM
transmembrane domain	140	159	N/A	INTRINSIC

Meta Mutation Damage Score

0.3244

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	G	T	6: 85,628,753	G2462C	probably damaging	Het
Anapc5	T	C	5: 122,799,343	E464G	probably damaging	Het
Aoc3	T	A	11: 101,336,435	V378E	possibly damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC027072	A	T	17: 71,750,378	F768Y	probably damaging	Het
Calcoco1	C	A	15: 102,719,553	G49C	probably damaging	Het
Cbwd1	A	G	19: 24,948,094	V166A	possibly damaging	Het
Cd70	T	C	17: 57,146,401	T88A	possibly damaging	Het
Cpeb1	C	T	7: 81,436,226	R56Q	probably benign	Het
Dglucy	A	G	12: 100,842,679	Y212C	probably damaging	Het
Dnhd1	C	A	7: 105,714,920	P4160T	possibly damaging	Het
Ecel1	T	C	1: 87,154,421	D190G	probably benign	Het
Exoc6b	A	G	6: 85,069,344	L21P	probably damaging	Het
Fam110c	A	G	12: 31,074,395	R119G	unknown	Het
Fam198b	T	A	3: 79,936,663	N32K	probably benign	Het
Gm42791	C	A	5: 148,959,501		probably benign	Het
Hpcal4	A	G	4: 123,190,739	I154V	probably benign	Het
Itgb1	A	G	8: 128,726,038	D728G	probably damaging	Het
Kdm5d	A	T	Y: 927,753	D701V	probably damaging	Het
Kif18a	A	G	2: 109,302,882	K448E	probably damaging	Het
Kif26a	T	C	12: 112,173,858	F507S	possibly damaging	Het
Kmt2c	C	T	5: 25,315,005	G2036R	probably damaging	Het
Lrrc43	T	A	5: 123,492,213		probably benign	Het
Map3k20	T	C	2: 72,389,492	I256T	probably damaging	Het
Med29	T	A	7: 28,392,705		probably benign	Het
Mob3b	A	G	4: 34,954,026	C215R	probably damaging	Het
Mtf2	T	C	5: 108,088,070	Y87H	probably damaging	Het
Myo18a	G	A	11: 77,853,314	R1834K	probably damaging	Het
Nlrc4	T	A	17: 74,441,908	D779V	probably damaging	Het
Olfr638	T	C	7: 104,003,311	F18S	probably damaging	Het
Otud3	T	C	4: 138,898,018	T242A	probably damaging	Het
Pnliprp1	T	A	19: 58,732,142	M150K	possibly damaging	Het
Polm	T	A	11: 5,834,776	Q227L	probably benign	Het
Poln	A	G	5: 34,122,672	V282A	probably benign	Het
Ppfia2	T	A	10: 106,915,672		probably null	Het
Rad51	T	G	2: 119,123,814	M168R	probably benign	Het
Senp2	A	G	16: 22,028,042	T266A	probably benign	Het
Sfswap	A	G	5: 129,539,694	T401A	probably benign	Het
Slc35a4	C	A	18: 36,682,735	T206K	possibly damaging	Het
Slc40a1	A	G	1: 45,924,761	S23P	probably damaging	Het
Spef2	T	C	15: 9,614,209	K1217R	probably damaging	Het
St18	A	C	1: 6,810,685		probably benign	Het
Tdrd6	T	C	17: 43,628,327	D610G	possibly damaging	Het
Tmem163	C	A	1: 127,551,371	R137L	probably damaging	Het
Tmem94	T	A	11: 115,794,748	D942E	probably damaging	Het
Ttn	T	A	2: 76,750,410	I23380F	possibly damaging	Het
Uckl1	T	A	2: 181,570,600		probably null	Het
Vav2	T	C	2: 27,318,964	D99G	possibly damaging	Het
Vmn2r30	T	A	7: 7,334,260	I126F	probably benign	Het
Zbtb41	A	T	1: 139,423,563	Q138L	probably benign	Het
Zfp599	T	C	9: 22,258,065	Y37C	probably damaging	Het
Zfp784	T	A	7: 5,035,783	T259S	possibly damaging	Het
Zfp954	T	C	7: 7,115,838	S236G	probably benign	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
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
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'- AGAGAGAAGGGTTTGCAGTTTCCAC -3'
(R):5'- GATAGCAGTAGAGGCAGCATCCTTG -3'

Sequencing Primer
(F):5'- TGAGAGCAATCCTGGTTACAGTC -3'
(R):5'- GAGCTTAGTAGACAGGAAGCTTGG -3'

Posted On

2014-05-14