Mutagenetix > Incidental Mutation

Incidental Mutation 'R0254:Atp1a3'

34559

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

MMRRC Submission

038485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0254 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

24677592-24705383 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24680937 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

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,902 (GRCm39)	M252L	probably benign	Het
Abca6	A	G	11: 110,127,615 (GRCm39)	V314A	probably benign	Het
Abcb1b	A	T	5: 8,877,409 (GRCm39)	E656D	probably benign	Het
Abhd4	T	C	14: 54,500,691 (GRCm39)	I160T	probably benign	Het
Aco2	T	C	15: 81,773,557 (GRCm39)	V32A	probably damaging	Het
Actl6b	A	G	5: 137,552,406 (GRCm39)		probably benign	Het
Akap13	T	C	7: 75,386,352 (GRCm39)		probably benign	Het
Alpk3	A	T	7: 80,726,722 (GRCm39)	T136S	probably benign	Het
Ap1g1	G	T	8: 110,529,749 (GRCm39)	M56I	probably benign	Het
Arid2	C	T	15: 96,268,452 (GRCm39)	T855I	probably damaging	Het
Asprv1	T	C	6: 86,606,077 (GRCm39)	F308L	probably damaging	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Atp11b	T	A	3: 35,866,259 (GRCm39)	M378K	possibly damaging	Het
Blk	C	A	14: 63,618,253 (GRCm39)	A218S	probably benign	Het
C4b	T	A	17: 34,953,750 (GRCm39)	T953S	probably benign	Het
Cdadc1	T	C	14: 59,813,356 (GRCm39)		probably benign	Het
Cdca2	C	A	14: 67,914,627 (GRCm39)	L877F	probably damaging	Het
Ceacam10	G	T	7: 24,477,733 (GRCm39)	V83L	probably damaging	Het
Cep290	A	T	10: 100,350,436 (GRCm39)	I677F	probably benign	Het
Clip1	A	T	5: 123,755,395 (GRCm39)		probably benign	Het
Col11a2	G	T	17: 34,283,777 (GRCm39)		probably benign	Het
Coro1c	A	T	5: 113,983,313 (GRCm39)	V405D	probably benign	Het
Crebrf	A	G	17: 26,958,568 (GRCm39)	T13A	probably benign	Het
Cspg4	A	G	9: 56,804,694 (GRCm39)	E1835G	probably damaging	Het
Cubn	A	T	2: 13,480,846 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,429,505 (GRCm39)	N1332S	probably benign	Het
Cubn	T	C	2: 13,445,325 (GRCm39)	T1014A	possibly damaging	Het
Efnb1	T	C	X: 98,180,634 (GRCm39)		probably benign	Het
Elf2	G	T	3: 51,215,611 (GRCm39)	P33Q	probably damaging	Het
Fap	C	T	2: 62,333,746 (GRCm39)	G633D	probably damaging	Het
Gm10288	T	C	3: 146,544,675 (GRCm39)		noncoding transcript	Het
Got2	T	C	8: 96,596,166 (GRCm39)	N318S	probably benign	Het
Guk1	A	T	11: 59,076,854 (GRCm39)	F76L	probably damaging	Het
H2-K2	A	T	17: 34,215,639 (GRCm39)		probably benign	Het
Helz2	C	A	2: 180,874,552 (GRCm39)	G1981C	probably damaging	Het
Hinfp	G	A	9: 44,209,536 (GRCm39)	H250Y	probably damaging	Het
Hnrnpm	C	T	17: 33,871,242 (GRCm39)		probably null	Het
Hsd11b2	T	A	8: 106,249,699 (GRCm39)	V270E	possibly damaging	Het
Igbp1b	A	T	6: 138,635,201 (GRCm39)	M81K	probably damaging	Het
Kif11	A	G	19: 37,399,957 (GRCm39)	T815A	probably benign	Het
Kit	G	A	5: 75,781,581 (GRCm39)	V337I	probably benign	Het
Klf11	T	C	12: 24,703,582 (GRCm39)	S6P	probably damaging	Het
Klk13	T	C	7: 43,373,245 (GRCm39)	V193A	probably benign	Het
Krt73	T	A	15: 101,708,324 (GRCm39)		probably benign	Het
L1td1	T	A	4: 98,625,419 (GRCm39)	L538*	probably null	Het
Macf1	A	G	4: 123,326,572 (GRCm39)	L2061P	probably damaging	Het
Mcm2	A	G	6: 88,860,998 (GRCm39)	I900T	probably damaging	Het
Med16	A	T	10: 79,736,034 (GRCm39)	N371K	possibly damaging	Het
Mepce	A	C	5: 137,783,698 (GRCm39)	D209E	possibly damaging	Het
Mrc2	C	G	11: 105,238,692 (GRCm39)	P1249R	probably benign	Het
Mx2	A	T	16: 97,357,295 (GRCm39)	I463L	probably benign	Het
Naaa	A	T	5: 92,412,994 (GRCm39)	N73K	probably damaging	Het
Nags	T	A	11: 102,038,771 (GRCm39)	L404Q	probably damaging	Het
Neb	A	G	2: 52,133,402 (GRCm39)	Y3379H	probably damaging	Het
Nhsl1	A	G	10: 18,348,733 (GRCm39)	E120G	probably damaging	Het
Or11j4	T	C	14: 50,630,536 (GRCm39)	S108P	probably damaging	Het
Or4f53	A	C	2: 111,087,466 (GRCm39)	N2T	probably benign	Het
Or51a42	T	C	7: 103,708,728 (GRCm39)	H27R	probably benign	Het
Or51ah3	T	A	7: 103,209,829 (GRCm39)	Y48*	probably null	Het
Or51f5	C	A	7: 102,424,076 (GRCm39)	S115*	probably null	Het
Pcnt	A	G	10: 76,228,414 (GRCm39)	F1584L	probably benign	Het
Pdgfra	G	A	5: 75,328,596 (GRCm39)	V243I	probably damaging	Het
Polr2a	T	C	11: 69,634,497 (GRCm39)	I689V	possibly damaging	Het
Ppfia4	C	A	1: 134,251,962 (GRCm39)		probably benign	Het
Prmt8	C	A	6: 127,688,771 (GRCm39)	V200L	probably damaging	Het
Prpf8	T	A	11: 75,397,188 (GRCm39)	I2007N	possibly damaging	Het
Ptpn6	T	C	6: 124,705,113 (GRCm39)	E230G	probably damaging	Het
R3hcc1l	G	A	19: 42,551,587 (GRCm39)	V195I	probably damaging	Het
Rb1cc1	C	T	1: 6,333,071 (GRCm39)	T1330I	probably damaging	Het
Reep3	G	T	10: 66,857,575 (GRCm39)	T172N	probably benign	Het
Rfwd3	A	G	8: 112,020,655 (GRCm39)	V236A	probably benign	Het
Rgs22	T	C	15: 36,104,698 (GRCm39)	I121V	probably damaging	Het
Robo1	T	A	16: 72,461,058 (GRCm39)	F11I	probably benign	Het
Rsrc2	A	G	5: 123,878,910 (GRCm39)		probably benign	Het
Rubcn	A	G	16: 32,668,316 (GRCm39)	V117A	probably benign	Het
Scamp1	T	G	13: 94,347,088 (GRCm39)	N192T	probably benign	Het
Scn8a	T	A	15: 100,916,245 (GRCm39)	I1218N	probably damaging	Het
Serinc1	A	G	10: 57,399,304 (GRCm39)	S200P	probably damaging	Het
Serpinb9f	T	A	13: 33,518,574 (GRCm39)	F358Y	probably damaging	Het
Slc12a5	T	C	2: 164,839,165 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,906,462 (GRCm39)	M386V	possibly damaging	Het
Smarca5	A	G	8: 81,431,329 (GRCm39)	F963L	probably benign	Het
Smchd1	A	T	17: 71,718,886 (GRCm39)	F828I	probably benign	Het
Smr2l	A	T	5: 88,430,230 (GRCm39)	H42L	possibly damaging	Het
Stab2	G	T	10: 86,733,824 (GRCm39)	Q1333K	probably benign	Het
Svop	T	C	5: 114,176,600 (GRCm39)	S349G	probably benign	Het
Tdrd1	G	A	19: 56,830,998 (GRCm39)	S271N	probably benign	Het
Tec	G	A	5: 72,941,081 (GRCm39)	P159S	probably benign	Het
Tec	T	C	5: 72,920,899 (GRCm39)		probably benign	Het
Tfip11	G	A	5: 112,483,521 (GRCm39)	M645I	probably benign	Het
Thap12	A	T	7: 98,364,488 (GRCm39)	T219S	probably benign	Het
Tmem87a	C	T	2: 120,205,988 (GRCm39)	R329H	probably damaging	Het
Tpsab1	A	G	17: 25,562,719 (GRCm39)	Y227H	probably damaging	Het
Urah	G	A	7: 140,417,602 (GRCm39)	V114I	probably benign	Het
Wnt5a	G	A	14: 28,244,811 (GRCm39)	E353K	probably damaging	Het
Zfp1004	G	A	2: 150,033,784 (GRCm39)	R35K	possibly damaging	Het
Zfp101	A	T	17: 33,599,952 (GRCm39)	H601Q	possibly damaging	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
R0003:Atp1a3	UTSW	7	24,688,989 (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'- CAAGAGGAGTCTCGACTTTGGTTGC -3'
(R):5'- TCATCATGGCTAACATCCCACTGC -3'

Sequencing Primer
(F):5'- CGACTTTGGTTGCTTCGGC -3'
(R):5'- TAAGCCTGGCTGCTACTAAAG -3'

Posted On

2013-05-09