Mutagenetix > Incidental Mutation

Incidental Mutation 'R8435:Atp13a5'

653969

Institutional Source

Beutler Lab

Gene Symbol

Atp13a5

Ensembl Gene

ENSMUSG00000048939

Gene Name

ATPase type 13A5

Synonyms

C630015F21Rik

MMRRC Submission

067824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8435 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29050603-29197550 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 29099747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075204 (fasta)

Gene Model

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

AlphaFold

Q3TYU2

Predicted Effect

probably null
Transcript: ENSMUST00000075806

SMART Domains

Protein: ENSMUSP00000075204
Gene: ENSMUSG00000048939

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

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

probably benign
Transcript: ENSMUST00000143373

SMART Domains

Protein: ENSMUSP00000121208
Gene: ENSMUSG00000048939

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	G	T	12: 24,146,881 (GRCm39)	T30K	possibly damaging	Het
Adam20	C	T	8: 41,248,072 (GRCm39)	P61S	probably damaging	Het
Akip1	C	T	7: 109,304,193 (GRCm39)	S90L	unknown	Het
Atp1a1	A	G	3: 101,490,078 (GRCm39)	Y684H	probably benign	Het
Bach2	T	A	4: 32,501,682 (GRCm39)	C20S	possibly damaging	Het
Cage1	T	C	13: 38,203,161 (GRCm39)	I634M	possibly damaging	Het
Cckbr	T	C	7: 105,075,280 (GRCm39)	S17P	probably benign	Het
Celsr2	T	C	3: 108,321,715 (GRCm39)	T366A	probably benign	Het
Cps1	G	A	1: 67,251,589 (GRCm39)	V1196I	probably benign	Het
Ddc	A	T	11: 11,814,902 (GRCm39)	S188T	probably damaging	Het
Eml4	T	C	17: 83,729,070 (GRCm39)	C82R	possibly damaging	Het
Fig4	T	A	10: 41,161,670 (GRCm39)	H31L	probably benign	Het
Fkbp5	T	C	17: 28,621,752 (GRCm39)	D366G	possibly damaging	Het
Ift80	A	G	3: 68,892,787 (GRCm39)	S134P	probably damaging	Het
Lacc1	A	T	14: 77,272,475 (GRCm39)	V107D	possibly damaging	Het
Lcp2	A	G	11: 34,004,316 (GRCm39)	E51G	probably damaging	Het
Lfng	G	A	5: 140,598,981 (GRCm39)	E297K	probably damaging	Het
Lrp1	A	G	10: 127,392,199 (GRCm39)	Y2815H	probably damaging	Het
Lrp4	T	C	2: 91,307,998 (GRCm39)	L481P	probably damaging	Het
Ltbp4	C	A	7: 27,034,870 (GRCm39)	R97L	unknown	Het
Mbnl1	G	A	3: 60,437,090 (GRCm39)	W13*	probably null	Het
Neb	T	A	2: 52,157,729 (GRCm39)	T2293S	probably benign	Het
Nrg3	CCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGC	14: 39,194,654 (GRCm39)		probably benign	Het
Odr4	T	G	1: 150,258,020 (GRCm39)	K205T	possibly damaging	Het
Or56b1	A	T	7: 104,285,657 (GRCm39)	T259S	probably benign	Het
Or5v1	A	G	17: 37,809,676 (GRCm39)	I45V	probably benign	Het
Or8a1b	T	A	9: 37,622,846 (GRCm39)	H243L	probably damaging	Het
Pcmt1	G	A	10: 7,515,825 (GRCm39)	P221L	possibly damaging	Het
Plag1	T	A	4: 3,905,648 (GRCm39)	D14V	probably benign	Het
Ppp4r3a	A	G	12: 101,049,048 (GRCm39)	S28P	probably benign	Het
Rab11fip5	T	A	6: 85,314,522 (GRCm39)	I1232F	possibly damaging	Het
Rpl18a	C	T	8: 71,348,341 (GRCm39)	G114D	possibly damaging	Het
Rtel1	A	G	2: 180,995,897 (GRCm39)	D927G	possibly damaging	Het
Shcbp1	C	T	8: 4,798,734 (GRCm39)	C395Y	probably benign	Het
Slc22a28	T	A	19: 8,048,565 (GRCm39)	T361S	probably benign	Het
Slc35f5	C	T	1: 125,488,994 (GRCm39)	R5*	probably null	Het
Slc37a4	G	A	9: 44,310,759 (GRCm39)	C121Y	probably damaging	Het
Sorcs3	C	T	19: 48,194,913 (GRCm39)	R99W	possibly damaging	Het
Tc2n	C	T	12: 101,615,376 (GRCm39)	W483*	probably null	Het
Tex101	G	A	7: 24,367,791 (GRCm39)	T187I	probably damaging	Het
Trpc6	T	C	9: 8,610,441 (GRCm39)	L303P	probably damaging	Het
Trpv5	A	T	6: 41,647,827 (GRCm39)	Y329N	probably damaging	Het
Tshz1	C	A	18: 84,032,149 (GRCm39)	S753I	probably damaging	Het
Ttn	G	A	2: 76,546,264 (GRCm39)	T32383I	probably damaging	Het
Txlnb	A	G	10: 17,703,544 (GRCm39)	E234G	probably damaging	Het
Vmn1r120	T	A	7: 20,787,557 (GRCm39)	R51S	probably benign	Het
Vmn2r17	A	T	5: 109,576,172 (GRCm39)	T348S	probably benign	Het
Zdhhc21	T	C	4: 82,753,714 (GRCm39)	Y158C	probably damaging	Het
Zfp236	C	T	18: 82,658,366 (GRCm39)	G632D	probably damaging	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
R4433:Atp13a5	UTSW	16	29,100,842 (GRCm39)	missense	probably damaging	0.99
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
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'- TTGTGACTGGATCTGCAAGATGC -3'
(R):5'- TTCAATGGCTAGCAACAAACGG -3'

Sequencing Primer
(F):5'- TGGATCTGCAAGATGCCACTG -3'
(R):5'- ACGGATGGAGAGACATCTTAGTTTC -3'

Posted On

2020-10-20