Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Atp1a3'

230869

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24978167-25005958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24989853 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 594 (M594K)

Ref Sequence

ENSEMBL: ENSMUSP00000143735 (fasta)

Gene Model

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

AlphaFold

Q6PIC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080882
AA Change: M581K

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

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: M581K

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 damaging
Transcript: ENSMUST00000102858
AA Change: M581K

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

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: M581K

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

noncoding transcript
Transcript: ENSMUST00000146595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184595

Predicted Effect

probably damaging
Transcript: ENSMUST00000196684
AA Change: M594K

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

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: M594K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Ltk	T	C	2: 119,752,088	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		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
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
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
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'- GATACCCACACCCTTGGCAATG -3'
(R):5'- TCCATCCCATTGCTGAGAGC -3'

Sequencing Primer
(F):5'- CAGTGATGGGGTGATCGCC -3'
(R):5'- CAATGGGATGCAGCCGTG -3'

Posted On

2014-09-18