Mutagenetix > Incidental Mutation

Incidental Mutation 'R4632:Atp13a5'

500737

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

041897-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29231851-29378732 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29348719 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 138 (R138W)

Ref Sequence

ENSEMBL: ENSMUSP00000114703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075806] [ENSMUST00000142681] [ENSMUST00000143373] [ENSMUST00000152040]

AlphaFold

Q3TYU2

Predicted Effect

probably damaging
Transcript: ENSMUST00000075806
AA Change: R138W

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

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939
AA Change: R138W

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: R138W

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

SMART Domains

Protein: ENSMUSP00000118627
Gene: ENSMUSG00000048939
AA Change: R138W

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: R138W

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

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939
AA Change: R138W

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

probably damaging
Transcript: ENSMUST00000152040
AA Change: R138W

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

SMART Domains

Protein: ENSMUSP00000114703
Gene: ENSMUSG00000048939
AA Change: R138W

Domain	Start	End	E-Value	Type
Pfam:P5-ATPase	17	143	1.4e-25	PFAM
Cation_ATPase_N	149	209	8.78e0	SMART
low complexity region	213	227	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	C	13: 63,068,092	S393P	probably benign	Het
Abcg1	T	C	17: 31,064,473	V44A	probably benign	Het
Abr	C	T	11: 76,509,019	G39R	probably benign	Het
Adora2b	TGGACCACTCCAGGACCACTC	TGGACCACTC	11: 62,265,382		probably null	Het
Agbl1	A	G	7: 76,413,685	T47A	probably benign	Het
Akap13	G	T	7: 75,666,553	A1389S	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankar	T	A	1: 72,647,184	T1286S	probably benign	Het
Ankrd13c	A	G	3: 157,962,302	H166R	probably damaging	Het
Arl16	A	G	11: 120,465,784	S130P	probably damaging	Het
Atp10a	A	T	7: 58,807,438	Q895L	possibly damaging	Het
Auts2	G	A	5: 131,472,275	T309M	probably damaging	Het
C6	A	T	15: 4,759,868	K265I	probably benign	Het
Casz1	A	G	4: 148,951,855	T1525A	possibly damaging	Het
Chpf2	A	G	5: 24,591,831	T592A	probably benign	Het
Cilp	A	T	9: 65,279,880	T1086S	probably benign	Het
Cmip	A	G	8: 117,447,411	Y410C	possibly damaging	Het
Csmd3	A	G	15: 48,011,209	C560R	probably damaging	Het
Dchs1	T	A	7: 105,754,355	E2993D	probably benign	Het
Dnah7a	A	G	1: 53,427,951	F3585L	probably damaging	Het
Dspp	A	G	5: 104,177,406	D545G	unknown	Het
Dusp7	T	A	9: 106,370,766	S198T	possibly damaging	Het
Ell2	A	T	13: 75,769,574	Q541L	possibly damaging	Het
Fzd1	A	T	5: 4,755,865	Y572*	probably null	Het
Galntl6	T	A	8: 58,427,823	I99F	probably damaging	Het
Gm609	T	G	16: 45,417,908	H181P	probably benign	Het
Gnat3	G	A	5: 18,015,366		probably null	Het
Hykk	T	C	9: 54,946,516	I374T	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnt2	A	G	1: 140,523,148	I722V	possibly damaging	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Krt13	A	G	11: 100,121,224	L91P	possibly damaging	Het
Krtap4-13	A	C	11: 99,809,528	S102A	unknown	Het
Lrp2	A	G	2: 69,489,129		probably null	Het
Lrriq1	C	T	10: 103,221,427	V171I	probably damaging	Het
Map3k4	C	G	17: 12,232,504	E1501Q	probably damaging	Het
Mapk11	C	T	15: 89,146,376	V105M	probably damaging	Het
Mlph	G	A	1: 90,939,386	A377T	probably damaging	Het
Myo9a	G	A	9: 59,869,664	C1115Y	probably benign	Het
Nabp1	A	T	1: 51,474,602	Y78*	probably null	Het
Nos2	T	C	11: 78,957,591	F1108S	possibly damaging	Het
Oas2	T	C	5: 120,733,481	K699R	probably benign	Het
Olfm5	T	C	7: 104,160,893	D87G	probably benign	Het
Olfr15	C	T	16: 3,839,087	T38M	probably damaging	Het
Oog3	A	G	4: 144,158,128	F413L	probably benign	Het
Pik3r4	A	G	9: 105,654,899	M557V	probably benign	Het
Pkhd1l1	A	G	15: 44,484,400	T224A	probably benign	Het
Pknox2	A	G	9: 36,894,413	S367P	probably benign	Het
Ppfia2	A	G	10: 106,836,044		probably null	Het
Ppm1e	G	A	11: 87,231,530	P534S	probably damaging	Het
Prepl	T	C	17: 85,083,231	T100A	probably benign	Het
Ptpn13	A	G	5: 103,569,860	N1924S	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Samd12	T	A	15: 53,719,671	H89L	possibly damaging	Het
Sephs1	T	A	2: 4,896,760	V211E	probably benign	Het
Setx	C	T	2: 29,148,615	T1704I	probably benign	Het
Sltm	T	C	9: 70,579,369	S439P	possibly damaging	Het
Sort1	G	T	3: 108,346,678	Q553H	probably damaging	Het
Svs2	G	T	2: 164,237,747	T80N	probably benign	Het
Tanc1	C	A	2: 59,795,835	T512K	probably damaging	Het
Tas2r139	T	A	6: 42,141,498	V188E	probably damaging	Het
Tesk2	C	T	4: 116,741,712	R6W	probably benign	Het
Tex101	G	T	7: 24,668,368	C186*	probably null	Het
Timp2	C	T	11: 118,303,772	S197N	probably benign	Het
Tmem37	A	T	1: 120,068,249	C33S	probably damaging	Het
Tmem69	T	C	4: 116,553,038	D245G	probably benign	Het
Trak1	G	A	9: 121,454,425	R419Q	probably benign	Het
Ube2j2	T	A	4: 155,955,258	I14N	probably damaging	Het
Ush2a	T	A	1: 188,395,874	N694K	possibly damaging	Het
Utp20	A	G	10: 88,778,261	V1277A	probably damaging	Het
Vmn2r100	C	T	17: 19,531,954	S753F	probably damaging	Het
Vmn2r103	T	C	17: 19,793,696	I250T	probably benign	Het
Zap70	G	T	1: 36,778,458	A261S	probably benign	Het
Zdhhc6	A	G	19: 55,314,309	W87R	probably damaging	Het
Zfp410	A	T	12: 84,325,736	D112V	probably damaging	Het
Zfp462	T	C	4: 55,012,981	F501S	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
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
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
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'- CGTATGGTGGATGTCAAAGCAG -3'
(R):5'- TTGGCACCATTTGTGGAGAC -3'

Sequencing Primer
(F):5'- AAGCAGGAGTTACTGTCTTCCAGC -3'
(R):5'- TGTGGAGACAAAGTTGAGTGTG -3'

Posted On

2017-12-01