Mutagenetix > Incidental Mutations

Incidental Mutation 'R1680:Atp1a2'

188386

Institutional Source

Beutler Lab

Gene Symbol

Atp1a2

Ensembl Gene

ENSMUSG00000007097

Gene Name

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

Synonyms

Atpa-3

MMRRC Submission

039716-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172271709-172298064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172278954 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 827 (D827V)

Ref Sequence

ENSEMBL: ENSMUSP00000095072 (fasta)

Gene Model

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

AlphaFold

Q6PIE5

Predicted Effect

probably damaging
Transcript: ENSMUST00000085913
AA Change: D827V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: D827V

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

probably damaging
Transcript: ENSMUST00000097464
AA Change: D827V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: D827V

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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 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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	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
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
R4928:Atp1a2	UTSW	1	172278387	missense	possibly damaging	0.93
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
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'- TCCCTTGGAGACAGAGATGGAAGTC -3'
(R):5'- AGAGTCGAGCAGTCCCACAGAATAG -3'

Sequencing Primer
(F):5'- AGATGGAAGTCTCTGGCTCTCC -3'
(R):5'- gggattgaacccaaaactcac -3'

Posted On

2014-05-09