Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03161:Atp1a2'

411433

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp1a2

Ensembl Gene

ENSMUSG00000007097

Gene Name

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

Synonyms

Atpa-3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03161

Quality Score

Status

Chromosome

Chromosomal Location

172099276-172125631 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 172106429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134280 (fasta)

Gene Model

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

AlphaFold

Q6PIE5

Predicted Effect

probably benign
Transcript: ENSMUST00000085913

SMART Domains

Protein: ENSMUSP00000083077
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	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 benign
Transcript: ENSMUST00000097464

SMART Domains

Protein: ENSMUSP00000095072
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	1.9e-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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	C	3: 79,536,493 (GRCm39)		probably benign	Het
Abtb2	G	T	2: 103,397,799 (GRCm39)	R243L	probably benign	Het
Adamts12	A	G	15: 11,292,168 (GRCm39)	E871G	possibly damaging	Het
Ascc3	A	T	10: 50,494,168 (GRCm39)	N201I	probably damaging	Het
Aste1	A	T	9: 105,273,871 (GRCm39)	H37L	probably damaging	Het
Cand2	C	A	6: 115,769,698 (GRCm39)	T836K	probably benign	Het
Dnah7c	G	A	1: 46,506,456 (GRCm39)	A178T	probably benign	Het
Dnm2	A	G	9: 21,397,020 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,900,987 (GRCm39)	D326G	probably damaging	Het
Fignl1	A	C	11: 11,752,680 (GRCm39)	M125R	probably benign	Het
Gabarapl2	T	A	8: 112,669,168 (GRCm39)	V42D	probably benign	Het
Hivep2	T	C	10: 14,019,100 (GRCm39)	V1957A	probably damaging	Het
Hps1	T	C	19: 42,755,710 (GRCm39)	E172G	probably damaging	Het
Il16	T	C	7: 83,371,707 (GRCm39)	D33G	probably damaging	Het
Lamb1	A	G	12: 31,376,255 (GRCm39)	N1542D	probably benign	Het
Mllt6	T	C	11: 97,557,977 (GRCm39)	Y179H	probably benign	Het
Muc4	T	C	16: 32,570,766 (GRCm39)	S609P	possibly damaging	Het
Nacad	G	A	11: 6,550,378 (GRCm39)	Q938*	probably null	Het
Odad3	A	G	9: 21,913,611 (GRCm39)	S54P	probably benign	Het
Or4k45	T	C	2: 111,395,676 (GRCm39)	I38V	possibly damaging	Het
Or4p22	G	A	2: 88,317,792 (GRCm39)	A239T	probably benign	Het
Pik3c3	C	T	18: 30,426,760 (GRCm39)	T292I	probably benign	Het
Prss3b	A	T	6: 41,011,240 (GRCm39)	H47Q	probably damaging	Het
Slit3	T	C	11: 35,591,241 (GRCm39)	V1351A	probably benign	Het
Spg7	T	C	8: 123,814,070 (GRCm39)	M443T	probably damaging	Het
Spmip9	T	C	6: 70,890,519 (GRCm39)	E91G	probably benign	Het
Tcof1	A	G	18: 60,966,560 (GRCm39)	S344P	possibly damaging	Het
Tm4sf5	T	A	11: 70,401,098 (GRCm39)	S105T	probably benign	Het
Tmem119	A	G	5: 113,932,961 (GRCm39)	V280A	possibly damaging	Het
Trbv20	A	T	6: 41,165,757 (GRCm39)	I61L	probably benign	Het
Trip12	T	C	1: 84,738,853 (GRCm39)		probably benign	Het
Vmn1r32	T	A	6: 66,530,204 (GRCm39)	M191L	possibly damaging	Het
Vta1	A	T	10: 14,543,716 (GRCm39)	H219Q	possibly damaging	Het

Other mutations in Atp1a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Atp1a2	APN	1	172,103,569 (GRCm39)	missense	probably damaging	1.00
IGL00954:Atp1a2	APN	1	172,118,201 (GRCm39)	missense	probably damaging	1.00
IGL01083:Atp1a2	APN	1	172,112,186 (GRCm39)	missense	probably benign
IGL01372:Atp1a2	APN	1	172,106,510 (GRCm39)	missense	probably damaging	1.00
IGL01762:Atp1a2	APN	1	172,112,480 (GRCm39)	missense	possibly damaging	0.89
IGL01896:Atp1a2	APN	1	172,113,578 (GRCm39)	missense	probably damaging	1.00
IGL01942:Atp1a2	APN	1	172,113,876 (GRCm39)	missense	probably benign	0.35
IGL01944:Atp1a2	APN	1	172,103,754 (GRCm39)	missense	probably damaging	0.98
IGL02219:Atp1a2	APN	1	172,107,298 (GRCm39)	nonsense	probably null
IGL02219:Atp1a2	APN	1	172,107,285 (GRCm39)	missense	probably damaging	1.00
IGL02304:Atp1a2	APN	1	172,116,920 (GRCm39)	missense	probably benign
IGL02507:Atp1a2	APN	1	172,113,338 (GRCm39)	missense	probably damaging	1.00
IGL02557:Atp1a2	APN	1	172,106,218 (GRCm39)	missense	possibly damaging	0.83
IGL02632:Atp1a2	APN	1	172,108,181 (GRCm39)	missense	possibly damaging	0.89
IGL03053:Atp1a2	APN	1	172,105,923 (GRCm39)	missense	probably damaging	1.00
IGL03104:Atp1a2	APN	1	172,120,934 (GRCm39)	missense	probably damaging	0.97
IGL03218:Atp1a2	APN	1	172,116,870 (GRCm39)	missense	probably null	0.82
PIT4151001:Atp1a2	UTSW	1	172,118,288 (GRCm39)	missense	probably damaging	0.99
PIT4520001:Atp1a2	UTSW	1	172,106,941 (GRCm39)	missense	probably benign	0.00
R0121:Atp1a2	UTSW	1	172,116,909 (GRCm39)	missense	probably damaging	0.99
R0630:Atp1a2	UTSW	1	172,118,842 (GRCm39)	missense	possibly damaging	0.78
R0682:Atp1a2	UTSW	1	172,112,164 (GRCm39)	missense	probably benign	0.00
R0755:Atp1a2	UTSW	1	172,116,948 (GRCm39)	missense	probably benign	0.37
R1413:Atp1a2	UTSW	1	172,106,911 (GRCm39)	missense	probably damaging	1.00
R1680:Atp1a2	UTSW	1	172,106,521 (GRCm39)	missense	probably damaging	0.99
R2094:Atp1a2	UTSW	1	172,115,000 (GRCm39)	missense	probably damaging	1.00
R3714:Atp1a2	UTSW	1	172,106,551 (GRCm39)	missense	probably damaging	0.96
R4573:Atp1a2	UTSW	1	172,106,204 (GRCm39)	missense	possibly damaging	0.75
R4928:Atp1a2	UTSW	1	172,105,954 (GRCm39)	missense	possibly damaging	0.93
R4953:Atp1a2	UTSW	1	172,119,009 (GRCm39)	intron	probably benign
R5014:Atp1a2	UTSW	1	172,112,438 (GRCm39)	missense	probably benign	0.05
R5080:Atp1a2	UTSW	1	172,112,012 (GRCm39)	intron	probably benign
R5129:Atp1a2	UTSW	1	172,103,522 (GRCm39)	missense	probably benign	0.02
R5360:Atp1a2	UTSW	1	172,106,436 (GRCm39)	critical splice donor site	probably null
R5619:Atp1a2	UTSW	1	172,106,948 (GRCm39)	missense	probably damaging	0.99
R5622:Atp1a2	UTSW	1	172,118,994 (GRCm39)	intron	probably benign
R5718:Atp1a2	UTSW	1	172,107,009 (GRCm39)	missense	probably damaging	1.00
R5729:Atp1a2	UTSW	1	172,120,938 (GRCm39)	missense	probably damaging	0.99
R5909:Atp1a2	UTSW	1	172,114,797 (GRCm39)	missense	probably damaging	1.00
R6018:Atp1a2	UTSW	1	172,125,579 (GRCm39)	intron	probably benign
R6145:Atp1a2	UTSW	1	172,114,805 (GRCm39)	missense	probably damaging	1.00
R6164:Atp1a2	UTSW	1	172,106,459 (GRCm39)	missense	probably damaging	0.97
R6315:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6317:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6319:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6323:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6324:Atp1a2	UTSW	1	172,116,903 (GRCm39)	missense	probably damaging	0.99
R6374:Atp1a2	UTSW	1	172,116,942 (GRCm39)	missense	probably damaging	1.00
R6764:Atp1a2	UTSW	1	172,112,181 (GRCm39)	missense	probably benign
R6812:Atp1a2	UTSW	1	172,112,444 (GRCm39)	missense	probably benign	0.20
R7025:Atp1a2	UTSW	1	172,112,117 (GRCm39)	nonsense	probably null
R7194:Atp1a2	UTSW	1	172,108,194 (GRCm39)	nonsense	probably null
R7459:Atp1a2	UTSW	1	172,114,862 (GRCm39)	missense	probably benign	0.00
R7791:Atp1a2	UTSW	1	172,103,782 (GRCm39)	missense	probably benign	0.28
R7889:Atp1a2	UTSW	1	172,105,631 (GRCm39)	splice site	probably null
R7993:Atp1a2	UTSW	1	172,118,878 (GRCm39)	missense	possibly damaging	0.86
R8183:Atp1a2	UTSW	1	172,116,918 (GRCm39)	missense	probably damaging	0.96
R8434:Atp1a2	UTSW	1	172,112,179 (GRCm39)	missense	probably benign	0.01
R8712:Atp1a2	UTSW	1	172,103,547 (GRCm39)	missense	probably benign	0.05
R8724:Atp1a2	UTSW	1	172,106,945 (GRCm39)	missense	probably benign	0.13
R8887:Atp1a2	UTSW	1	172,113,222 (GRCm39)	missense	probably null	0.02
R8965:Atp1a2	UTSW	1	172,107,612 (GRCm39)	missense	probably benign	0.25
R9322:Atp1a2	UTSW	1	172,107,625 (GRCm39)	missense	possibly damaging	0.94
R9383:Atp1a2	UTSW	1	172,107,334 (GRCm39)	missense	probably benign
R9451:Atp1a2	UTSW	1	172,103,494 (GRCm39)	missense	probably benign
R9485:Atp1a2	UTSW	1	172,105,822 (GRCm39)	makesense	probably null
R9727:Atp1a2	UTSW	1	172,118,936 (GRCm39)	missense	probably benign	0.01
Z1176:Atp1a2	UTSW	1	172,107,321 (GRCm39)	missense	possibly damaging	0.90
Z1177:Atp1a2	UTSW	1	172,114,903 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02