Mutagenetix > Incidental Mutations

Incidental Mutation 'R7348:Atp1a3'

570351

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24978167-25005958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24978826 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1034 (F1034S)

Ref Sequence

ENSEMBL: ENSMUSP00000099922 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080882

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907

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

unknown
Transcript: ENSMUST00000102858
AA Change: F1034S

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: F1034S

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

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907

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: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,866,159	R282C	probably damaging	Het
Adcy2	T	A	13: 68,734,675	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,817,766	I274N		Het
Adpgk	A	G	9: 59,313,786	I292V	probably benign	Het
Agtrap	G	T	4: 148,080,597	F124L	probably benign	Het
Ankrd26	A	G	6: 118,508,564	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 127,061,976	S933C	probably damaging	Het
Ap4e1	G	T	2: 127,061,977	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,212,652	T128S	possibly damaging	Het
Arih1	T	C	9: 59,486,058	Y97C	probably damaging	Het
Bmp6	T	C	13: 38,485,903	S388P	probably benign	Het
Ccdc39	A	G	3: 33,832,676	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,500,336	C150Y	probably damaging	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cln6	A	G	9: 62,849,176	S201G	probably benign	Het
Cntnap4	T	C	8: 112,665,277	Y125H	probably damaging	Het
Copa	A	G	1: 172,102,223	T286A	possibly damaging	Het
Cul9	A	T	17: 46,510,993	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,444,640	A490S	probably benign	Het
Cyp2t4	A	G	7: 27,157,251	I239V	probably benign	Het
E2f7	C	T	10: 110,780,975	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,615,135	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,616,439	M77R	probably benign	Het
Fhod3	A	G	18: 25,090,467	R957G	possibly damaging	Het
Gm17018	A	G	19: 45,572,466	Y111C	probably damaging	Het
H6pd	C	A	4: 149,983,902		probably null	Het
Haus5	G	T	7: 30,656,966	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,729,196		probably benign	Het
Igf2r	A	G	17: 12,703,484	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,147,218	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561	H251L	probably damaging	Het
Mapre3	T	C	5: 30,861,829	Y6H	probably benign	Het
Mlh3	G	T	12: 85,267,441	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 47,335,409	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Myh1	C	A	11: 67,202,539	P152Q	probably damaging	Het
Myh6	A	T	14: 54,952,259	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,536,850	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,524,416	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,444,273	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Olfr1354	A	G	10: 78,917,562	T241A	probably damaging	Het
Olfr453	T	C	6: 42,744,856	L273S	possibly damaging	Het
Olfr488	T	C	7: 108,256,123	D5G	probably benign	Het
Olfr491	T	C	7: 108,317,713	V273A	possibly damaging	Het
Parg	G	A	14: 32,250,079	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,456,818	C1395*	probably null	Het
Psd2	G	A	18: 35,980,336	S287N	possibly damaging	Het
Psd3	T	C	8: 67,790,931	N685S	possibly damaging	Het
Pygb	C	T	2: 150,786,983	T39M	probably benign	Het
Rbfox1	C	A	16: 7,408,024	Y351*	probably null	Het
Rftn1	A	G	17: 50,004,323	L396P	probably damaging	Het
S1pr1	A	G	3: 115,712,061	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,535,833	M440V	probably benign	Het
Sel1l2	T	C	2: 140,265,724	N240S	probably benign	Het
Skint1	T	C	4: 112,021,573	L234P	probably damaging	Het
Skint11	T	A	4: 114,244,722	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,910,167		probably benign	Het
Tas2r134	T	C	2: 51,628,402	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,594,311	A773D	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tmem184a	T	C	5: 139,814,054	E24G	probably null	Het
Tmem207	C	A	16: 26,516,827	W53C	possibly damaging	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Ttc37	T	C	13: 76,182,884	F1478L	possibly damaging	Het
Ttc41	G	T	10: 86,750,348	E839*	probably null	Het
Ufd1	T	G	16: 18,815,885		probably benign	Het
Usp28	A	G	9: 49,030,877	E713G	probably benign	Het
Utrn	A	G	10: 12,748,018	W159R	probably damaging	Het
Vcl	C	T	14: 21,003,150	A411V	probably benign	Het
Vcl	T	A	14: 21,008,952	C545*	probably null	Het
Vmn1r120	A	T	7: 21,053,452	S111R	probably damaging	Het
Wwox	T	A	8: 114,472,652	C146S	probably benign	Het
Zbtb2	T	C	10: 4,374,574	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,777,217	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,921,818	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,474,598	S231P	probably damaging	Het
Zhx3	G	T	2: 160,782,118	S43*	probably null	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
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
R7165:Atp1a3	UTSW	7	24978965	missense	probably benign	0.13
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
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
R7943:Atp1a3	UTSW	7	24981791	missense	probably damaging	1.00
R7944:Atp1a3	UTSW	7	25001148	missense	unknown
R8002:Atp1a3	UTSW	7	25000671
R8010:Atp1a3	UTSW	7	24980645
Z1176:Atp1a3	UTSW	7	24998688
Z1177:Atp1a3	UTSW	7	24980119

Predicted Primers

PCR Primer
(F):5'- GCAGACACGAGAGCCATATG -3'
(R):5'- TGGTCTACCTGCAGACAGTC -3'

Sequencing Primer
(F):5'- CACGAGAGCCATATGAGCAAG -3'
(R):5'- GTCTACCTGCAGACAGTCAGTATTTG -3'

Posted On

2019-09-13