Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:Atp1a2'

488785

Institutional Source

Beutler Lab

Gene Symbol

Atp1a2

Ensembl Gene

ENSMUSG00000007097

Gene Name

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

Synonyms

Atpa-3

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

172271709-172298064 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172287238 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 327 (V327I)

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: V327I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: V327I

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: V327I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: V327I

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

noncoding transcript
Transcript: ENSMUST00000137679

SMART Domains

Protein: ENSMUSP00000117873
Gene: ENSMUSG00000007097

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	1.2e-63	PFAM
Pfam:Hydrolase	368	613	8.5e-9	PFAM
Pfam:Hydrolase_like2	424	518	5.7e-27	PFAM

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
4930402H24Rik	T	C	2: 130,778,473	I247V	probably benign	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	probably 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
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
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'- ATTGAATGCTCAGATACAGCTCAAC -3'
(R):5'- ATAGCCACTCTTGCCTCTGG -3'

Sequencing Primer
(F):5'- AGGCATGCCCTGAACAATTTCTG -3'
(R):5'- TCTGGCCTAGAGGTGGGAC -3'

Posted On

2017-10-10