Mutagenetix > Incidental Mutation

Incidental Mutation 'R4928:Atp1a2'

444518

Institutional Source

Beutler Lab

Gene Symbol

Atp1a2

Ensembl Gene

ENSMUSG00000007097

Gene Name

ATPase, Na+/K+ transporting, alpha 2 polypeptide

Synonyms

Atpa-3

MMRRC Submission

042529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172271709-172298064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172278387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 904 (T904A)

Ref Sequence

ENSEMBL: ENSMUSP00000095072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085913] [ENSMUST00000097464] [ENSMUST00000139528]

AlphaFold

Q6PIE5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085913
AA Change: T904A

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: T904A

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	40	114	5.28e-19	SMART
Pfam:E1-E2_ATPase	132	363	2.5e-59	PFAM
Pfam:Hydrolase	368	726	4.5e-19	PFAM
Pfam:HAD	371	723	3.2e-18	PFAM
Pfam:Cation_ATPase	424	518	1.9e-25	PFAM
Pfam:Cation_ATPase_C	796	1005	1.4e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097464
AA Change: T904A

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: T904A

Domain	Start	End	E-Value	Type
low complexity region	22	36	N/A	INTRINSIC
Cation_ATPase_N	40	114	5.28e-19	SMART
Pfam:E1-E2_ATPase	133	364	1.9e-63	PFAM
Pfam:Hydrolase	368	726	2e-32	PFAM
Pfam:HAD	371	723	1.7e-15	PFAM
Pfam:Hydrolase_like2	424	518	1.3e-26	PFAM
Pfam:Cation_ATPase_C	796	947	3.2e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131751

Predicted Effect

probably benign
Transcript: ENSMUST00000139528

SMART Domains

Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

Domain	Start	End	E-Value	Type
IG_like	19	84	3.66e1	SMART
low complexity region	92	103	N/A	INTRINSIC
IG	106	222	2.3e-3	SMART
IG	246	370	9.49e-5	SMART
IG	382	508	3.59e-5	SMART
transmembrane domain	515	537	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191781

Meta Mutation Damage Score

0.5514

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

98% (123/126)

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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530021J07Rik	G	T	7: 83,155,878		noncoding transcript	Het
Aasdh	T	A	5: 76,896,688	K118N	possibly damaging	Het
Abca14	A	T	7: 120,324,580	N1620I	possibly damaging	Het
Acap1	A	T	11: 69,885,815	S149T	possibly damaging	Het
Adgre1	T	A	17: 57,444,064	Y579*	probably null	Het
AI314180	A	G	4: 58,827,073	V1020A	probably damaging	Het
Aifm3	T	C	16: 17,500,432		probably benign	Het
Aldh16a1	A	G	7: 45,141,961	W107R	probably damaging	Het
Amer2	A	T	14: 60,379,445	H363L	possibly damaging	Het
Arhgap10	A	G	8: 77,426,328		probably null	Het
Arhgef6	A	T	X: 57,234,878	D742E	probably damaging	Het
Astn2	A	T	4: 65,729,407	N731K	probably damaging	Het
Atr	C	T	9: 95,907,299	R1503W	probably damaging	Het
Cdh3	G	T	8: 106,536,610	R97L	probably benign	Het
Chst2	C	T	9: 95,406,006	V96I	probably benign	Het
Cit	T	A	5: 115,985,797	N1464K	probably benign	Het
Col17a1	A	T	19: 47,670,458		probably null	Het
Col4a3	G	A	1: 82,710,977		probably benign	Het
Copz1	T	A	15: 103,291,330	S57R	probably damaging	Het
Cpped1	A	T	16: 11,828,279	F227Y	probably damaging	Het
Cyp2j12	A	T	4: 96,102,151		probably null	Het
Dctn1	T	A	6: 83,189,207	I195N	possibly damaging	Het
Dhrs7b	A	G	11: 60,851,925	I148V	probably benign	Het
Dnah17	T	C	11: 118,027,433	D4096G	probably damaging	Het
Dnajc13	T	C	9: 104,233,638	N145D	possibly damaging	Het
Ercc6l2	T	C	13: 63,894,813		probably benign	Het
Fads6	T	G	11: 115,296,561	I103L	probably benign	Het
Fam189a1	G	T	7: 64,759,368	S426*	probably null	Het
Fat4	T	G	3: 39,010,465	Y4857D	probably damaging	Het
Fbxl14	T	A	6: 119,480,710	L284Q	probably damaging	Het
Fkbp9	T	C	6: 56,849,670	V85A	possibly damaging	Het
Galnt13	T	A	2: 54,516,565	V9E	probably damaging	Het
Gm14412	A	T	2: 177,314,580	S507R	probably benign	Het
Gm15142	T	A	X: 154,638,419		noncoding transcript	Het
Gm4787	T	C	12: 81,378,838	E182G	probably benign	Het
Gm6811	C	A	17: 21,094,631		noncoding transcript	Het
Gm9791	A	T	3: 34,005,069		noncoding transcript	Het
Hoxb7	A	T	11: 96,289,510		probably null	Het
Ift122	T	A	6: 115,915,858		probably benign	Het
Krt28	C	T	11: 99,374,632	V70I	probably benign	Het
Lig1	T	C	7: 13,298,738	S459P	probably damaging	Het
Lrfn3	C	T	7: 30,360,623	R59H	possibly damaging	Het
Mavs	T	C	2: 131,246,743	V489A	probably benign	Het
Mcm8	C	T	2: 132,839,479	P625L	probably benign	Het
Megf10	G	T	18: 57,240,673	R181L	probably benign	Het
Mgrn1	G	A	16: 4,927,862	G440D	probably benign	Het
Mllt3	T	C	4: 87,782,405		probably null	Het
Muc5ac	T	A	7: 141,817,902	Y2613*	probably null	Het
Myh14	C	T	7: 44,635,502	G662S	probably benign	Het
Myod1	T	A	7: 46,377,050	N126K	probably damaging	Het
Nae1	A	T	8: 104,516,142	H439Q	possibly damaging	Het
Narf	T	A	11: 121,244,939	V136E	possibly damaging	Het
Ncapd3	T	A	9: 27,071,735	C926*	probably null	Het
Ndufv2	C	A	17: 66,092,658		probably null	Het
Neb	T	C	2: 52,212,975	S449G	possibly damaging	Het
Nek10	C	T	14: 14,930,577	P698L	probably damaging	Het
Nox3	T	A	17: 3,635,275	E566V	probably null	Het
Oas1a	C	T	5: 120,905,724	R115H	probably benign	Het
Olfr1076	T	A	2: 86,509,125	L222H	probably damaging	Het
Olfr1130	C	A	2: 87,608,143	L252I	probably benign	Het
Olfr1152	A	G	2: 87,868,230	M80V	probably benign	Het
Olfr65	A	G	7: 103,906,672	T78A	probably damaging	Het
Pbld2	A	G	10: 63,047,999	H142R	probably damaging	Het
Pcdha4	C	T	18: 36,954,816	T684M	probably benign	Het
Phc3	G	T	3: 30,950,919	T175N	probably damaging	Het
Pigs	G	T	11: 78,329,002	V68L	probably damaging	Het
Pik3c2g	T	A	6: 139,967,802	D857E	possibly damaging	Het
Pitpnm3	G	A	11: 72,063,172	P550S	probably damaging	Het
Pla2g15	G	A	8: 106,163,218	W374*	probably null	Het
Ptpn14	G	A	1: 189,822,642	C133Y	probably damaging	Het
Ptpn20	A	G	14: 33,614,489	N95S	probably benign	Het
Ptrh2	G	T	11: 86,690,036	V160F	probably damaging	Het
Rapgef3	T	C	15: 97,757,375	D486G	probably damaging	Het
Rev3l	T	G	10: 39,823,985	S1493A	probably benign	Het
Rgs9	T	A	11: 109,225,744	D411V	probably benign	Het
Rgsl1	A	T	1: 153,793,768	Y291N	probably damaging	Het
Rprd2	A	G	3: 95,764,537	Y1185H	probably damaging	Het
Rpusd3	A	G	6: 113,416,206		probably benign	Het
Scnn1a	T	C	6: 125,322,173	I72T	probably damaging	Het
Sdk1	A	T	5: 141,857,003		probably benign	Het
Sfmbt2	T	C	2: 10,445,745	L277P	probably benign	Het
Sgf29	A	G	7: 126,664,982	E73G	probably damaging	Het
Slc12a6	T	A	2: 112,352,961	F764L	probably damaging	Het
Slc4a2	T	C	5: 24,435,342		probably null	Het
Slc9a3	T	G	13: 74,157,719	V285G	probably damaging	Het
Slc9c1	A	G	16: 45,575,409	T608A	probably benign	Het
Slfnl1	C	T	4: 120,535,685	R325C	probably damaging	Het
Smarcad1	T	A	6: 65,074,914	F344I	probably benign	Het
Snrnp70	A	T	7: 45,377,281		probably null	Het
Sod2	C	T	17: 13,008,186	T9M	probably benign	Het
Spag5	T	A	11: 78,314,373	S633T	probably damaging	Het
Spta1	A	T	1: 174,191,056	I531L	probably benign	Het
Stra8	A	G	6: 34,933,156	E60G	probably benign	Het
Sult2a3	T	A	7: 14,111,557	I126F	probably benign	Het
Syt1	T	C	10: 108,504,512	H315R	possibly damaging	Het
Tanc2	T	C	11: 105,867,762	L783P	probably damaging	Het
Thbs2	C	T	17: 14,678,900	C646Y	probably damaging	Het
Ticam2	T	A	18: 46,560,922	K33*	probably null	Het
Trim17	T	C	11: 58,954,301		probably benign	Het
Tsr1	G	A	11: 74,907,879	M691I	probably benign	Het
Ttn	T	A	2: 76,762,419	I20790F	probably damaging	Het
Tubb2b	A	T	13: 34,128,185	Y208*	probably null	Het
Ubr1	T	A	2: 120,914,938	I890F	probably damaging	Het
Usp54	T	C	14: 20,562,192	E852G	probably damaging	Het
Vmn2r78	T	C	7: 86,954,627	V671A	probably damaging	Het
Wipi1	T	C	11: 109,579,649	K315E	probably benign	Het
Xrn2	T	C	2: 147,051,718	V735A	possibly damaging	Het
Zdbf2	T	A	1: 63,308,814	D2117E	possibly damaging	Het
Zfp287	A	T	11: 62,714,136	C648*	probably null	Het
Zfp369	A	G	13: 65,296,800	T586A	possibly damaging	Het

Other mutations in Atp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Atp1a2	APN	1	172276002	missense	probably damaging	1.00
IGL00954:Atp1a2	APN	1	172290634	missense	probably damaging	1.00
IGL01083:Atp1a2	APN	1	172284619	missense	probably benign
IGL01372:Atp1a2	APN	1	172278943	missense	probably damaging	1.00
IGL01762:Atp1a2	APN	1	172284913	missense	possibly damaging	0.89
IGL01896:Atp1a2	APN	1	172286011	missense	probably damaging	1.00
IGL01942:Atp1a2	APN	1	172286309	missense	probably benign	0.35
IGL01944:Atp1a2	APN	1	172276187	missense	probably damaging	0.98
IGL02219:Atp1a2	APN	1	172279718	missense	probably damaging	1.00
IGL02219:Atp1a2	APN	1	172279731	nonsense	probably null
IGL02304:Atp1a2	APN	1	172289353	missense	probably benign
IGL02507:Atp1a2	APN	1	172285771	missense	probably damaging	1.00
IGL02557:Atp1a2	APN	1	172278651	missense	possibly damaging	0.83
IGL02632:Atp1a2	APN	1	172280614	missense	possibly damaging	0.89
IGL03053:Atp1a2	APN	1	172278356	missense	probably damaging	1.00
IGL03104:Atp1a2	APN	1	172293367	missense	probably damaging	0.97
IGL03161:Atp1a2	APN	1	172278862	intron	probably benign
IGL03218:Atp1a2	APN	1	172289303	missense	probably null	0.82
PIT4151001:Atp1a2	UTSW	1	172290721	missense	probably damaging	0.99
PIT4520001:Atp1a2	UTSW	1	172279374	missense	probably benign	0.00
R0121:Atp1a2	UTSW	1	172289342	missense	probably damaging	0.99
R0630:Atp1a2	UTSW	1	172291275	missense	possibly damaging	0.78
R0682:Atp1a2	UTSW	1	172284597	missense	probably benign	0.00
R0755:Atp1a2	UTSW	1	172289381	missense	probably benign	0.37
R1413:Atp1a2	UTSW	1	172279344	missense	probably damaging	1.00
R1680:Atp1a2	UTSW	1	172278954	missense	probably damaging	0.99
R2094:Atp1a2	UTSW	1	172287433	missense	probably damaging	1.00
R3714:Atp1a2	UTSW	1	172278984	missense	probably damaging	0.96
R4573:Atp1a2	UTSW	1	172278637	missense	possibly damaging	0.75
R4953:Atp1a2	UTSW	1	172291442	intron	probably benign
R5014:Atp1a2	UTSW	1	172284871	missense	probably benign	0.05
R5080:Atp1a2	UTSW	1	172284445	intron	probably benign
R5129:Atp1a2	UTSW	1	172275955	missense	probably benign	0.02
R5360:Atp1a2	UTSW	1	172278869	critical splice donor site	probably null
R5619:Atp1a2	UTSW	1	172279381	missense	probably damaging	0.99
R5622:Atp1a2	UTSW	1	172291427	intron	probably benign
R5718:Atp1a2	UTSW	1	172279442	missense	probably damaging	1.00
R5729:Atp1a2	UTSW	1	172293371	missense	probably damaging	0.99
R5909:Atp1a2	UTSW	1	172287230	missense	probably damaging	1.00
R6018:Atp1a2	UTSW	1	172298012	intron	probably benign
R6145:Atp1a2	UTSW	1	172287238	missense	probably damaging	1.00
R6164:Atp1a2	UTSW	1	172278892	missense	probably damaging	0.97
R6315:Atp1a2	UTSW	1	172289336	missense	probably damaging	0.99
R6317:Atp1a2	UTSW	1	172289336	missense	probably damaging	0.99
R6319:Atp1a2	UTSW	1	172289336	missense	probably damaging	0.99
R6323:Atp1a2	UTSW	1	172289336	missense	probably damaging	0.99
R6324:Atp1a2	UTSW	1	172289336	missense	probably damaging	0.99
R6374:Atp1a2	UTSW	1	172289375	missense	probably damaging	1.00
R6764:Atp1a2	UTSW	1	172284614	missense	probably benign
R6812:Atp1a2	UTSW	1	172284877	missense	probably benign	0.20
R7025:Atp1a2	UTSW	1	172284550	nonsense	probably null
R7194:Atp1a2	UTSW	1	172280627	nonsense	probably null
R7459:Atp1a2	UTSW	1	172287295	missense	probably benign	0.00
R7791:Atp1a2	UTSW	1	172276215	missense	probably benign	0.28
R7889:Atp1a2	UTSW	1	172278064	splice site	probably null
R7993:Atp1a2	UTSW	1	172291311	missense	possibly damaging	0.86
R8183:Atp1a2	UTSW	1	172289351	missense	probably damaging	0.96
R8434:Atp1a2	UTSW	1	172284612	missense	probably benign	0.01
R8712:Atp1a2	UTSW	1	172275980	missense	probably benign	0.05
R8724:Atp1a2	UTSW	1	172279378	missense	probably benign	0.13
R8887:Atp1a2	UTSW	1	172285655	missense	probably null	0.02
R8965:Atp1a2	UTSW	1	172280045	missense	probably benign	0.25
R9322:Atp1a2	UTSW	1	172280058	missense	possibly damaging	0.94
R9383:Atp1a2	UTSW	1	172279767	missense	probably benign
R9451:Atp1a2	UTSW	1	172275927	missense	probably benign
R9485:Atp1a2	UTSW	1	172278255	makesense	probably null
R9727:Atp1a2	UTSW	1	172291369	missense	probably benign	0.01
Z1176:Atp1a2	UTSW	1	172279754	missense	possibly damaging	0.90
Z1177:Atp1a2	UTSW	1	172287336	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAATCCTGGCCTATGTGG -3'
(R):5'- ATCGGACTACCAACGACCTG -3'

Sequencing Primer
(F):5'- GTGACTATGTACAGAGGCCTC -3'
(R):5'- CGACCTGGAGGACAGCTATG -3'

Posted On

2016-11-11