Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Atp1a3'

32320

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

ATPase, Na+/K+ transporting, alpha 3 polypeptide

Synonyms

Atpa-2

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0003 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

24677592-24705383 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24688989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]

AlphaFold

Q6PIC6

Predicted Effect

probably benign
Transcript: ENSMUST00000080882

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907

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 benign
Transcript: ENSMUST00000102858

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907

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 benign
Transcript: ENSMUST00000196684

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,019,616 (GRCm39)	C439S	probably damaging	Het
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,591,038 (GRCm39)	D1247E	probably benign	Het
Alms1	T	A	6: 85,606,192 (GRCm39)	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,512,292 (GRCm39)	H310R	probably damaging	Het
Ambra1	C	T	2: 91,741,773 (GRCm39)	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,591,331 (GRCm39)	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145 (GRCm39)		probably benign	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bicra	G	T	7: 15,705,812 (GRCm39)	T1543K	probably benign	Het
Bltp2	T	A	11: 78,177,404 (GRCm39)	V1903E	possibly damaging	Het
Bzw2	A	C	12: 36,180,014 (GRCm39)	I71S	probably damaging	Het
Camk2a	C	T	18: 61,093,079 (GRCm39)	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,485,665 (GRCm39)	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,819,164 (GRCm39)	F19Y	probably benign	Het
Clcn3	A	T	8: 61,380,330 (GRCm39)	C535*	probably null	Het
Cntnap5c	A	G	17: 58,506,012 (GRCm39)	T679A	probably benign	Het
Cpsf7	G	A	19: 10,516,993 (GRCm39)	S365N	possibly damaging	Het
Cspg4b	T	A	13: 113,505,310 (GRCm39)	S2146R	probably benign	Het
Cyp20a1	T	C	1: 60,426,285 (GRCm39)		probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dnah12	T	C	14: 26,494,601 (GRCm39)	F1300L	probably damaging	Het
Dock1	T	C	7: 134,331,793 (GRCm39)		probably benign	Het
Dpy19l4	A	T	4: 11,267,619 (GRCm39)	N440K	probably damaging	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,831,681 (GRCm39)		probably null	Het
Fam184b	A	G	5: 45,712,536 (GRCm39)		probably benign	Het
Fcho1	A	T	8: 72,161,597 (GRCm39)	S858T	probably damaging	Het
Fgfr1	A	G	8: 26,058,214 (GRCm39)	D430G	possibly damaging	Het
Fmnl3	T	C	15: 99,219,013 (GRCm39)	T807A	probably damaging	Het
Gabra5	T	C	7: 57,063,476 (GRCm39)	Y316C	probably damaging	Het
Gh	A	G	11: 106,192,346 (GRCm39)	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532 (GRCm39)	I87F	probably damaging	Het
Glrb	T	A	3: 80,763,221 (GRCm39)	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651 (GRCm39)	L125P	probably damaging	Het
Grb2	A	G	11: 115,546,251 (GRCm39)	Y37H	probably damaging	Het
Haus2	G	A	2: 120,449,449 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,788,653 (GRCm39)	N749S	probably damaging	Het
Igf1r	T	C	7: 67,814,990 (GRCm39)	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,293,270 (GRCm39)	P69H	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Izumo2	C	T	7: 44,364,833 (GRCm39)	T116I	probably benign	Het
Kctd19	A	C	8: 106,121,993 (GRCm39)	Y185D	probably damaging	Het
Lama4	A	G	10: 38,936,218 (GRCm39)	N631S	possibly damaging	Het
Lama5	T	G	2: 179,819,872 (GRCm39)		probably null	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Lgr4	G	A	2: 109,828,010 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mapk9	T	A	11: 49,757,866 (GRCm39)	D103E	possibly damaging	Het
Marchf6	T	C	15: 31,469,678 (GRCm39)		probably benign	Het
Mlxipl	G	A	5: 135,162,043 (GRCm39)		probably benign	Het
Mrgbp	C	A	2: 180,225,231 (GRCm39)	D62E	probably benign	Het
Mtap	A	T	4: 89,070,235 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Naa25	T	G	5: 121,545,247 (GRCm39)		probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,253,852 (GRCm39)	C73R	probably benign	Het
Nup210l	T	C	3: 90,027,218 (GRCm39)	I200T	probably damaging	Het
Nvl	C	A	1: 180,941,698 (GRCm39)	D581Y	probably damaging	Het
Or51a6	T	C	7: 102,604,185 (GRCm39)	M208V	probably benign	Het
Or51f2	T	C	7: 102,527,068 (GRCm39)	V247A	probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or8b1c	A	G	9: 38,384,612 (GRCm39)	T190A	probably benign	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,740,836 (GRCm39)		probably null	Het
Plekhh2	A	T	17: 84,864,820 (GRCm39)	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Rrad	A	C	8: 105,355,299 (GRCm39)	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,246,533 (GRCm39)	A236T	probably benign	Het
Ryr2	C	A	13: 11,839,265 (GRCm39)	D503Y	probably damaging	Het
Siglec1	T	C	2: 130,916,980 (GRCm39)	T1092A	probably benign	Het
Siglecf	A	G	7: 43,005,350 (GRCm39)	T437A	probably benign	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,999,299 (GRCm39)	S358T	possibly damaging	Het
Trim25	G	T	11: 88,906,598 (GRCm39)	V437L	probably benign	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,536,912 (GRCm39)	S303R	probably benign	Het
Ush2a	T	A	1: 188,310,688 (GRCm39)	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 20,032,241 (GRCm39)	T672A	probably damaging	Het
Wdr11	G	T	7: 129,200,785 (GRCm39)	G79C	probably damaging	Het
Wdr89	T	A	12: 75,679,367 (GRCm39)	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,930,402 (GRCm39)	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,622,217 (GRCm39)	C381R	probably damaging	Het
Zim1	A	G	7: 6,679,947 (GRCm39)	I572T	probably benign	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
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
R2105:Atp1a3	UTSW	7	24,689,278 (GRCm39)	missense	probably damaging	1.00
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'- GATTGGCTACACAGCAGTGAGGATG -3'
(R):5'- TGTGATGACGTGAACTTCACCACAG -3'

Sequencing Primer
(F):5'- CAGCAGTGAGGATGGACGAG -3'
(R):5'- ACAGACAACCTTTGCTTTGTGG -3'

Posted On

2013-05-09