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

24677592-24705383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24689278 bp (GRCm39)

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: 121,650,459 (GRCm39)	P1189L	probably benign	Het
Acbd4	G	A	11: 102,995,265 (GRCm39)	D57N	probably damaging	Het
Acot4	A	T	12: 84,085,516 (GRCm39)	M78L	probably damaging	Het
Ago1	A	T	4: 126,355,581 (GRCm39)	M76K	probably benign	Het
Agrn	G	T	4: 156,261,756 (GRCm39)	Y511*	probably null	Het
Arhgef15	A	T	11: 68,838,507 (GRCm39)		probably null	Het
Atp4a	G	A	7: 30,419,793 (GRCm39)		probably null	Het
Bckdk	T	A	7: 127,506,489 (GRCm39)	I272N	probably damaging	Het
Bod1l	A	G	5: 41,989,622 (GRCm39)	V367A	probably benign	Het
C1galt1c1	T	C	X: 37,720,145 (GRCm39)	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,366,105 (GRCm39)	C4*	probably null	Het
Cfap53	T	C	18: 74,416,294 (GRCm39)	V9A	possibly damaging	Het
Chil3	T	C	3: 106,067,794 (GRCm39)	I124V	possibly damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Cyp2c67	T	C	19: 39,614,681 (GRCm39)	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,770,793 (GRCm39)	A1201T	probably benign	Het
Dock4	A	G	12: 40,742,988 (GRCm39)	H381R	probably benign	Het
Drc1	C	T	5: 30,513,785 (GRCm39)	S447F	probably benign	Het
Fam83g	G	T	11: 61,594,284 (GRCm39)	R606L	probably benign	Het
Fmnl1	A	C	11: 103,085,518 (GRCm39)	S688R	probably benign	Het
Fryl	C	T	5: 73,279,642 (GRCm39)	V219I	probably benign	Het
Golgb1	T	A	16: 36,735,026 (GRCm39)	N1424K	probably benign	Het
Gpr39	T	C	1: 125,605,621 (GRCm39)	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,351,409 (GRCm39)	Y274N	probably benign	Het
Hif1a	T	A	12: 73,984,519 (GRCm39)	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,138,267 (GRCm39)	M787K	probably damaging	Het
Hipk3	T	C	2: 104,269,737 (GRCm39)	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,954,490 (GRCm39)	F291I	probably benign	Het
Ino80	T	C	2: 119,262,410 (GRCm39)	E692G	probably null	Het
Itgam	T	A	7: 127,680,884 (GRCm39)	V271D	probably damaging	Het
Kansl1	A	C	11: 104,226,385 (GRCm39)	I924S	probably damaging	Het
Kcnq2	A	G	2: 180,723,145 (GRCm39)	C628R	probably benign	Het
Krt78	A	C	15: 101,855,849 (GRCm39)	V654G	possibly damaging	Het
Lrit2	A	G	14: 36,793,913 (GRCm39)	T326A	probably damaging	Het
Ltk	T	C	2: 119,582,569 (GRCm39)	E710G	probably damaging	Het
Lysmd1	T	C	3: 95,042,285 (GRCm39)	L53S	probably damaging	Het
Mc4r	T	C	18: 66,992,669 (GRCm39)	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,973,162 (GRCm39)	Q172*	probably null	Het
Mknk2	A	G	10: 80,504,435 (GRCm39)	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,216,573 (GRCm39)	H167L	probably benign	Het
Myc	T	C	15: 61,859,951 (GRCm39)	V208A	probably damaging	Het
Myh7b	A	G	2: 155,471,377 (GRCm39)	E1175G	probably benign	Het
Myo18a	A	T	11: 77,741,060 (GRCm39)	M1456L	probably benign	Het
Myocd	G	A	11: 65,109,484 (GRCm39)	Q96*	probably null	Het
Nckap5	T	A	1: 125,954,255 (GRCm39)	I766F	probably damaging	Het
Ndst1	T	C	18: 60,824,325 (GRCm39)	E784G	probably benign	Het
Nf1	A	T	11: 79,360,652 (GRCm39)	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,361,072 (GRCm39)	W228R	probably damaging	Het
Nup107	G	A	10: 117,609,225 (GRCm39)	T378I	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or1o3	A	T	17: 37,573,964 (GRCm39)	M197K	probably benign	Het
Or52d13	T	A	7: 103,109,480 (GRCm39)		probably null	Het
Or5m3b	C	T	2: 85,871,674 (GRCm39)	T5I	probably damaging	Het
Or5w11	A	G	2: 87,459,283 (GRCm39)	T159A	probably benign	Het
Or6b13	T	A	7: 139,782,656 (GRCm39)	D9V	probably benign	Het
Otop1	A	G	5: 38,457,801 (GRCm39)	D520G	probably benign	Het
Papln	C	T	12: 83,827,010 (GRCm39)	P712S	probably benign	Het
Pcbd2	T	A	13: 55,880,846 (GRCm39)	I34N	probably damaging	Het
Pkd1l3	T	A	8: 110,374,205 (GRCm39)	C29*	probably null	Het
Pou5f1	G	A	17: 35,820,899 (GRCm39)	V114M	probably benign	Het
Pramel28	A	T	4: 143,692,390 (GRCm39)	Y204N	probably benign	Het
Prpf4b	C	A	13: 35,068,214 (GRCm39)		probably benign	Het
Prr23a1	C	T	9: 98,724,709 (GRCm39)	P24S	probably damaging	Het
Ptch1	T	A	13: 63,693,059 (GRCm39)	M65L	probably benign	Het
Rc3h2	A	T	2: 37,289,636 (GRCm39)	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195 (GRCm39)	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,287,285 (GRCm39)	D68G	probably damaging	Het
Ryr1	G	T	7: 28,789,575 (GRCm39)	T1513K	probably damaging	Het
Sacs	A	G	14: 61,410,890 (GRCm39)	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,398,527 (GRCm39)	S28P	probably benign	Het
Scrn3	A	G	2: 73,160,196 (GRCm39)	M280V	probably damaging	Het
Snx29	C	T	16: 11,328,898 (GRCm39)	T559I	possibly damaging	Het
Spn	C	T	7: 126,735,413 (GRCm39)	E109K	probably damaging	Het
Sra1	C	T	18: 36,808,121 (GRCm39)	R369H	probably benign	Het
Srsf11	C	T	3: 157,724,982 (GRCm39)	A64T	probably damaging	Het
Stk17b	A	G	1: 53,815,764 (GRCm39)	S12P	probably benign	Het
Sult1d1	C	A	5: 87,707,661 (GRCm39)	G153V	probably damaging	Het
Sycp2	A	T	2: 177,991,931 (GRCm39)		probably null	Het
Tgfb3	T	C	12: 86,116,543 (GRCm39)	E165G	possibly damaging	Het
Tns2	C	A	15: 102,015,941 (GRCm39)	H160N	probably benign	Het
Ubn1	T	A	16: 4,895,088 (GRCm39)	C711*	probably null	Het
Usp13	A	T	3: 32,956,135 (GRCm39)	D469V	probably damaging	Het
Vmn1r231	A	T	17: 21,110,380 (GRCm39)	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,857,250 (GRCm39)	S183P	probably damaging	Het
Xpo7	A	G	14: 70,928,431 (GRCm39)	I424T	probably benign	Het
Zfp109	A	G	7: 23,936,041 (GRCm39)		probably null	Het

Other mutations in Atp1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Atp1a3	APN	7	24,696,711 (GRCm39)	missense	probably damaging	0.98
IGL02736:Atp1a3	APN	7	24,679,534 (GRCm39)	missense	probably damaging	1.00
IGL02738:Atp1a3	APN	7	24,689,901 (GRCm39)	missense	possibly damaging	0.86
IGL02806:Atp1a3	APN	7	24,681,297 (GRCm39)	missense	probably damaging	1.00
borah	UTSW	7	24,693,994 (GRCm39)	missense	probably damaging	1.00
Clonic	UTSW	7	24,687,410 (GRCm39)	missense	probably benign	0.37
Littlewolf	UTSW	7	24,681,216 (GRCm39)	missense	probably damaging	1.00
R0003:Atp1a3	UTSW	7	24,688,989 (GRCm39)	splice site	probably benign
R0254:Atp1a3	UTSW	7	24,680,937 (GRCm39)	splice site	probably benign
R0420:Atp1a3	UTSW	7	24,680,052 (GRCm39)	missense	probably benign
R0437:Atp1a3	UTSW	7	24,698,392 (GRCm39)	missense	probably benign	0.36
R0666:Atp1a3	UTSW	7	24,689,974 (GRCm39)	missense	probably benign	0.01
R0932:Atp1a3	UTSW	7	24,687,401 (GRCm39)	critical splice donor site	probably null
R1586:Atp1a3	UTSW	7	24,678,808 (GRCm39)	missense	probably damaging	0.97
R1981:Atp1a3	UTSW	7	24,700,400 (GRCm39)	missense	probably benign	0.19
R3076:Atp1a3	UTSW	7	24,679,498 (GRCm39)	missense	possibly damaging	0.48
R3110:Atp1a3	UTSW	7	24,694,119 (GRCm39)	missense	probably damaging	1.00
R3112:Atp1a3	UTSW	7	24,694,119 (GRCm39)	missense	probably damaging	1.00
R4223:Atp1a3	UTSW	7	24,700,355 (GRCm39)	missense	probably benign	0.09
R4327:Atp1a3	UTSW	7	24,687,056 (GRCm39)	intron	probably benign
R4598:Atp1a3	UTSW	7	24,678,766 (GRCm39)	missense	probably damaging	0.99
R4626:Atp1a3	UTSW	7	24,698,193 (GRCm39)	missense	possibly damaging	0.75
R4789:Atp1a3	UTSW	7	24,698,389 (GRCm39)	missense	probably damaging	1.00
R4963:Atp1a3	UTSW	7	24,694,051 (GRCm39)	missense	probably damaging	0.97
R5243:Atp1a3	UTSW	7	24,693,994 (GRCm39)	missense	probably damaging	1.00
R5294:Atp1a3	UTSW	7	24,687,473 (GRCm39)	missense	probably damaging	0.98
R5668:Atp1a3	UTSW	7	24,678,294 (GRCm39)	intron	probably benign
R5704:Atp1a3	UTSW	7	24,696,736 (GRCm39)	missense	probably damaging	0.98
R5870:Atp1a3	UTSW	7	24,697,003 (GRCm39)	missense	probably benign	0.03
R5934:Atp1a3	UTSW	7	24,678,299 (GRCm39)	intron	probably benign
R6183:Atp1a3	UTSW	7	24,681,177 (GRCm39)	missense	probably damaging	1.00
R6492:Atp1a3	UTSW	7	24,678,729 (GRCm39)	missense	probably damaging	1.00
R6996:Atp1a3	UTSW	7	24,697,051 (GRCm39)	missense	probably damaging	1.00
R7165:Atp1a3	UTSW	7	24,678,390 (GRCm39)	missense	probably benign	0.13
R7229:Atp1a3	UTSW	7	24,687,410 (GRCm39)	missense	probably benign	0.37
R7239:Atp1a3	UTSW	7	24,700,129 (GRCm39)	missense	probably damaging	1.00
R7301:Atp1a3	UTSW	7	24,689,940 (GRCm39)	missense	probably benign	0.00
R7330:Atp1a3	UTSW	7	24,700,577 (GRCm39)	nonsense	probably null
R7348:Atp1a3	UTSW	7	24,678,251 (GRCm39)	missense	unknown
R7432:Atp1a3	UTSW	7	24,705,300 (GRCm39)	unclassified	probably benign
R7490:Atp1a3	UTSW	7	24,686,895 (GRCm39)	missense	probably damaging	1.00
R7556:Atp1a3	UTSW	7	24,680,991 (GRCm39)	missense	probably benign	0.02
R7860:Atp1a3	UTSW	7	24,681,216 (GRCm39)	missense	probably damaging	1.00
R7861:Atp1a3	UTSW	7	24,700,573 (GRCm39)	missense	unknown
R7993:Atp1a3	UTSW	7	24,700,406 (GRCm39)	critical splice acceptor site	probably null
R8002:Atp1a3	UTSW	7	24,700,096 (GRCm39)	missense	probably damaging	1.00
R8010:Atp1a3	UTSW	7	24,680,070 (GRCm39)	missense	possibly damaging	0.90
R8430:Atp1a3	UTSW	7	24,698,437 (GRCm39)	missense	probably damaging	1.00
R8780:Atp1a3	UTSW	7	24,680,979 (GRCm39)	missense	probably damaging	0.96
R8837:Atp1a3	UTSW	7	24,677,980 (GRCm39)	missense	probably damaging	1.00
R9031:Atp1a3	UTSW	7	24,689,212 (GRCm39)	critical splice donor site	probably null
R9220:Atp1a3	UTSW	7	24,696,625 (GRCm39)	nonsense	probably null
R9259:Atp1a3	UTSW	7	24,696,956 (GRCm39)	missense	probably damaging	1.00
R9600:Atp1a3	UTSW	7	24,700,027 (GRCm39)	missense	probably benign	0.00
Z1176:Atp1a3	UTSW	7	24,698,113 (GRCm39)	missense	probably benign	0.00
Z1177:Atp1a3	UTSW	7	24,679,544 (GRCm39)	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