Mutagenetix > Incidental Mutation

Incidental Mutation 'R7165:Atp1a3'

557872

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

ATPase, Na+/K+ transporting, alpha 3 polypeptide

Synonyms

Atpa-2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24978167-25005958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24978965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 988 (I988V)

Ref Sequence

ENSEMBL: ENSMUSP00000079691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]

AlphaFold

Q6PIC6

Predicted Effect

probably benign
Transcript: ENSMUST00000080882
AA Change: I988V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: I988V

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
Cation_ATPase_N	32	106	2.41e-22	SMART
Pfam:E1-E2_ATPase	125	356	6.3e-64	PFAM
Pfam:Hydrolase	360	719	2.6e-32	PFAM
Pfam:HAD	363	716	4.7e-18	PFAM
Pfam:Hydrolase_like2	416	511	5.7e-26	PFAM
Pfam:Cation_ATPase_C	789	998	3.5e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102858
AA Change: I988V

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: I988V

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
Cation_ATPase_N	32	106	2.41e-22	SMART
Pfam:E1-E2_ATPase	124	355	4.6e-60	PFAM
Pfam:Hydrolase	360	719	5.7e-20	PFAM
Pfam:HAD	363	716	4.5e-19	PFAM
Pfam:Cation_ATPase	416	511	5.1e-25	PFAM
Pfam:Cation_ATPase_C	789	998	1.4e-46	PFAM
low complexity region	1030	1047	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196684
AA Change: I1001V

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: I1001V

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
Cation_ATPase_N	45	119	1.9e-26	SMART
Pfam:E1-E2_ATPase	137	368	4e-58	PFAM
Pfam:Hydrolase	373	732	3.8e-18	PFAM
Pfam:HAD	376	729	3.8e-17	PFAM
Pfam:Cation_ATPase	429	524	5.2e-23	PFAM
Pfam:Cation_ATPase_C	802	1011	2.5e-44	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	C	A	2: 128,123,108	A624E	probably benign	Het
Adnp	A	G	2: 168,182,367	S1003P	probably benign	Het
Akap8l	T	C	17: 32,338,412	D75G	probably damaging	Het
Ap4e1	A	T	2: 127,063,318	T970S	possibly damaging	Het
Asb3	T	A	11: 31,029,029	N106K	probably damaging	Het
Camta1	A	G	4: 151,084,700	L198S	possibly damaging	Het
Ccdc77	A	G	6: 120,350,232	L84P	probably damaging	Het
Ccne1	C	T	7: 38,099,301	A298T	probably damaging	Het
Cdc42bpb	T	A	12: 111,321,517	E532V	probably damaging	Het
Clasp2	G	A	9: 113,786,399		probably null	Het
Cntnap5b	C	A	1: 100,076,162	T289N	possibly damaging	Het
Dcun1d4	A	G	5: 73,491,195		probably null	Het
Dnah14	A	G	1: 181,704,535	T2296A	probably benign	Het
Dnaja4	A	T	9: 54,709,232	Q173L	probably damaging	Het
Dync2h1	G	A	9: 7,050,479	A3190V	probably benign	Het
Frrs1	T	A	3: 116,878,271	I6N	probably benign	Het
Fscn1	T	C	5: 142,972,046	V477A	probably benign	Het
Fsip2	G	A	2: 82,981,197	G2620E	possibly damaging	Het
Glp1r	C	T	17: 30,909,323	A92V	probably benign	Het
Gm21671	AACT	A	5: 25,950,851		probably benign	Het
Gm9573	A	G	17: 35,621,978	S439P	unknown	Het
Gpr137b	A	T	13: 13,367,620	M204K	probably damaging	Het
Gstm1	A	G	3: 108,016,377	V104A	probably benign	Het
Gtf2e1	A	T	16: 37,535,866	N101K	probably damaging	Het
Igsf9b	T	C	9: 27,334,240	F1168L	probably benign	Het
Itpr2	A	T	6: 146,294,091	V1629E	probably damaging	Het
Kat14	A	G	2: 144,393,998	T428A	probably benign	Het
Kif21b	T	C	1: 136,149,448	Y403H	probably damaging	Het
Lpcat1	G	C	13: 73,514,530	A533P	probably benign	Het
Lrp2	A	T	2: 69,506,573	I1285N	probably damaging	Het
Mboat1	A	T	13: 30,224,415	Y187F	probably damaging	Het
Mkx	T	C	18: 7,002,525	N7S	probably damaging	Het
Mrps27	A	T	13: 99,414,799	T357S	possibly damaging	Het
Naa35	A	G	13: 59,586,183	D9G	probably benign	Het
Ncoa4	T	A	14: 32,175,983	N253K	probably damaging	Het
Neb	A	G	2: 52,270,306	Y2232H	probably damaging	Het
Nlk	G	A	11: 78,590,967	Q223*	probably null	Het
Npas2	T	A	1: 39,292,717	I71N	possibly damaging	Het
Nup107	T	A	10: 117,773,362	Q364L	probably damaging	Het
Olfr146	T	A	9: 39,023,270		probably benign	Het
Otof	C	T	5: 30,375,620	G1593S	probably damaging	Het
Panx3	G	T	9: 37,664,085	H160Q	probably damaging	Het
Pappa	T	A	4: 65,261,873	H990Q	probably damaging	Het
Pax4	G	A	6: 28,446,137	P119L	probably damaging	Het
Pcdhb20	T	A	18: 37,505,070	D216E	probably damaging	Het
Pcdhgb8	T	A	18: 37,763,178	S434T	possibly damaging	Het
Pf4	T	C	5: 90,772,589	V3A	probably benign	Het
Phf24	T	C	4: 42,938,325	S229P	probably benign	Het
Plcd3	A	G	11: 103,079,613	F200S	probably damaging	Het
Ppp1r16a	A	G	15: 76,690,904	H4R	probably damaging	Het
Pramef20	A	G	4: 144,372,819	C459R	probably damaging	Het
Prdm10	A	G	9: 31,316,442		probably null	Het
Prim2	A	G	1: 33,628,393		probably null	Het
Prkg1	T	A	19: 30,585,199	H550L	probably damaging	Het
Prrc2c	G	T	1: 162,673,517	T2809N	possibly damaging	Het
Ptx3	A	G	3: 66,224,970	E304G	probably benign	Het
Ralgps2	A	G	1: 156,828,248	F369L	probably benign	Het
Rasgrp1	G	A	2: 117,338,404	T31I	probably benign	Het
Rbsn	A	T	6: 92,191,334	M373K	probably benign	Het
Rnf168	C	G	16: 32,282,361	R120G	probably benign	Het
Rp1	A	G	1: 4,349,917	I324T	probably damaging	Het
Samd11	T	C	4: 156,252,290	S31G	probably benign	Het
Sart3	A	T	5: 113,745,995	L652Q	probably benign	Het
Scrn2	A	G	11: 97,033,808	E421G	probably benign	Het
Sik2	A	T	9: 50,917,097	L215Q	probably damaging	Het
Stard9	A	T	2: 120,704,158	K3632M	probably damaging	Het
Swt1	A	T	1: 151,388,677	D695E	probably damaging	Het
Tead3	T	A	17: 28,333,254	M357L	probably benign	Het
Tgfbi	A	T	13: 56,628,016	T292S	probably damaging	Het
Tmc7	T	C	7: 118,555,934	H247R	probably benign	Het
Trmt10b	T	A	4: 45,308,549	D236E	probably damaging	Het
Tshz1	C	A	18: 84,015,927	V119L	probably damaging	Het
Ttn	A	C	2: 76,827,914	V12374G	unknown	Het
Tubgcp2	A	G	7: 140,005,361	Y484H	probably damaging	Het
Ubr4	G	C	4: 139,450,513	A1947P		Het
Uggt1	A	C	1: 36,155,107	V1350G	probably benign	Het
Vmn1r173	A	T	7: 23,702,651	M104L	probably benign	Het
Xirp1	A	T	9: 120,019,047	C257S	probably damaging	Het
Zfyve26	A	G	12: 79,280,405	S724P	probably damaging	Het
Zmpste24	A	T	4: 121,082,894	L185Q	probably null	Het
Zpld1	G	A	16: 55,232,231	A340V	probably benign	Het

Other mutations in Atp1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Atp1a3	APN	7	24997286	missense	probably damaging	0.98
IGL02736:Atp1a3	APN	7	24980109	missense	probably damaging	1.00
IGL02738:Atp1a3	APN	7	24990476	missense	possibly damaging	0.86
IGL02806:Atp1a3	APN	7	24981872	missense	probably damaging	1.00
borah	UTSW	7	24994569	missense	probably damaging	1.00
Clonic	UTSW	7	24987985	missense	probably benign	0.37
Littlewolf	UTSW	7	24981791	missense	probably damaging	1.00
R0003:Atp1a3	UTSW	7	24989564	splice site	probably benign
R0254:Atp1a3	UTSW	7	24981512	splice site	probably benign
R0420:Atp1a3	UTSW	7	24980627	missense	probably benign
R0437:Atp1a3	UTSW	7	24998967	missense	probably benign	0.36
R0666:Atp1a3	UTSW	7	24990549	missense	probably benign	0.01
R0932:Atp1a3	UTSW	7	24987976	critical splice donor site	probably null
R1586:Atp1a3	UTSW	7	24979383	missense	probably damaging	0.97
R1981:Atp1a3	UTSW	7	25000975	missense	probably benign	0.19
R2105:Atp1a3	UTSW	7	24989853	missense	probably damaging	1.00
R3076:Atp1a3	UTSW	7	24980073	missense	possibly damaging	0.48
R3110:Atp1a3	UTSW	7	24994694	missense	probably damaging	1.00
R3112:Atp1a3	UTSW	7	24994694	missense	probably damaging	1.00
R4223:Atp1a3	UTSW	7	25000930	missense	probably benign	0.09
R4327:Atp1a3	UTSW	7	24987631	intron	probably benign
R4598:Atp1a3	UTSW	7	24979341	missense	probably damaging	0.99
R4626:Atp1a3	UTSW	7	24998768	missense	possibly damaging	0.75
R4789:Atp1a3	UTSW	7	24998964	missense	probably damaging	1.00
R4963:Atp1a3	UTSW	7	24994626	missense	probably damaging	0.97
R5243:Atp1a3	UTSW	7	24994569	missense	probably damaging	1.00
R5294:Atp1a3	UTSW	7	24988048	missense	probably damaging	0.98
R5668:Atp1a3	UTSW	7	24978869	intron	probably benign
R5704:Atp1a3	UTSW	7	24997311	missense	probably damaging	0.98
R5870:Atp1a3	UTSW	7	24997578	missense	probably benign	0.03
R5934:Atp1a3	UTSW	7	24978874	intron	probably benign
R6183:Atp1a3	UTSW	7	24981752	missense	probably damaging	1.00
R6492:Atp1a3	UTSW	7	24979304	missense	probably damaging	1.00
R6996:Atp1a3	UTSW	7	24997626	missense	probably damaging	1.00
R7229:Atp1a3	UTSW	7	24987985	missense	probably benign	0.37
R7239:Atp1a3	UTSW	7	25000704	missense	probably damaging	1.00
R7301:Atp1a3	UTSW	7	24990515	missense	probably benign	0.00
R7330:Atp1a3	UTSW	7	25001152	nonsense	probably null
R7348:Atp1a3	UTSW	7	24978826	missense	unknown
R7432:Atp1a3	UTSW	7	25005875	unclassified	probably benign
R7490:Atp1a3	UTSW	7	24987470	missense	probably damaging	1.00
R7556:Atp1a3	UTSW	7	24981566	missense	probably benign	0.02
R7860:Atp1a3	UTSW	7	24981791	missense	probably damaging	1.00
R7861:Atp1a3	UTSW	7	25001148	missense	unknown
R7993:Atp1a3	UTSW	7	25000981	critical splice acceptor site	probably null
R8002:Atp1a3	UTSW	7	25000671	missense	probably damaging	1.00
R8010:Atp1a3	UTSW	7	24980645	missense	possibly damaging	0.90
R8430:Atp1a3	UTSW	7	24999012	missense	probably damaging	1.00
R8780:Atp1a3	UTSW	7	24981554	missense	probably damaging	0.96
R8837:Atp1a3	UTSW	7	24978555	missense	probably damaging	1.00
R9031:Atp1a3	UTSW	7	24989787	critical splice donor site	probably null
R9220:Atp1a3	UTSW	7	24997200	nonsense	probably null
R9259:Atp1a3	UTSW	7	24997531	missense	probably damaging	1.00
R9600:Atp1a3	UTSW	7	25000602	missense	probably benign	0.00
Z1176:Atp1a3	UTSW	7	24998688	missense	probably benign	0.00
Z1177:Atp1a3	UTSW	7	24980119	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCGCACTTGGAAAGAGAGTG -3'
(R):5'- CACCCTGGTGTTTCTCTGGATG -3'

Sequencing Primer
(F):5'- CACTTGGAAAGAGAGTGAAAGGC -3'
(R):5'- GCTGATGCCACCAAGTCTC -3'

Posted On

2019-06-26