Mutagenetix > Incidental Mutation

Incidental Mutation 'R9031:Atp1a3'

687055

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

MMRRC Submission

068860-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9031 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24677592-24705383 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 24689212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079691 (fasta)

Gene Model

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

AlphaFold

Q6PIC6

Predicted Effect

probably null
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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	A	19: 43,810,466 (GRCm39)	R921H	probably benign	Het
Adcy5	A	G	16: 35,119,859 (GRCm39)	I1123V	probably damaging	Het
Agr2	G	C	12: 36,045,565 (GRCm39)	G17A	probably benign	Het
Akap6	A	T	12: 53,188,831 (GRCm39)	T2082S	probably benign	Het
Asxl3	G	T	18: 22,657,401 (GRCm39)	V1804F	probably damaging	Het
Atat1	A	G	17: 36,220,381 (GRCm39)	V37A	probably benign	Het
Bpifb1	A	G	2: 154,051,848 (GRCm39)	T218A	probably benign	Het
C030006K11Rik	T	A	15: 76,607,961 (GRCm39)	Q19L	probably benign	Het
Ccdc138	T	C	10: 58,380,893 (GRCm39)	F508S	probably damaging	Het
Ccdc81	T	A	7: 89,542,358 (GRCm39)	M173L	probably benign	Het
Cdhr1	T	C	14: 36,815,976 (GRCm39)	I141V	probably benign	Het
Chia1	T	C	3: 106,035,777 (GRCm39)	F206L	probably benign	Het
Clca3a2	C	T	3: 144,511,475 (GRCm39)	G640E	probably damaging	Het
Clcn7	T	C	17: 25,376,497 (GRCm39)	V609A	probably damaging	Het
Cmklr2	T	C	1: 63,223,145 (GRCm39)	E30G	probably benign	Het
Col22a1	C	A	15: 71,753,523 (GRCm39)	G126*	probably null	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Ctcfl	A	T	2: 172,959,044 (GRCm39)	D227E	probably benign	Het
Cwf19l2	A	G	9: 3,417,942 (GRCm39)	D134G	probably benign	Het
Cyp2c65	C	A	19: 39,061,663 (GRCm39)	C216*	probably null	Het
Cyp2d12	T	A	15: 82,443,423 (GRCm39)	C462S	probably null	Het
Cyp4a12a	A	C	4: 115,189,199 (GRCm39)	*509Y	probably null	Het
Cyp4a12b	A	G	4: 115,290,865 (GRCm39)	M298V	probably benign	Het
Dennd4b	T	C	3: 90,178,188 (GRCm39)	V471A	probably benign	Het
Dlc1	A	G	8: 37,405,055 (GRCm39)	S245P	possibly damaging	Het
Dnah1	C	T	14: 31,001,128 (GRCm39)	G2406S	probably benign	Het
Dnah8	A	G	17: 30,956,401 (GRCm39)	K2127R	probably damaging	Het
Dusp13b	G	A	14: 21,790,233 (GRCm39)	R38C	probably benign	Het
Ebf2	T	A	14: 67,472,594 (GRCm39)	I4N	probably benign	Het
Eef1ece2	C	T	16: 20,459,375 (GRCm39)	P570L	probably damaging	Het
Fcgbp	A	G	7: 27,790,908 (GRCm39)	N723S	possibly damaging	Het
Galnt15	T	A	14: 31,770,027 (GRCm39)	V368E	probably damaging	Het
Garem2	A	G	5: 30,313,262 (GRCm39)	E42G	possibly damaging	Het
Gcc1	C	T	6: 28,418,182 (GRCm39)	S717N	probably damaging	Het
Gfm2	T	C	13: 97,309,201 (GRCm39)		probably null	Het
Helb	T	C	10: 119,920,790 (GRCm39)	D1051G	possibly damaging	Het
Helz2	T	A	2: 180,874,261 (GRCm39)	I2078F	possibly damaging	Het
Hsph1	A	T	5: 149,553,270 (GRCm39)	V297D	probably damaging	Het
Ifnar1	A	G	16: 91,302,079 (GRCm39)	Y518C	probably benign	Het
Kcnip2	T	A	19: 45,783,210 (GRCm39)	D153V	probably damaging	Het
Kif15	A	T	9: 122,846,492 (GRCm39)		probably benign	Het
Kif21b	T	C	1: 136,073,042 (GRCm39)	F147L	probably damaging	Het
Klhl29	T	C	12: 5,140,537 (GRCm39)	R702G	probably damaging	Het
Lemd3	C	T	10: 120,767,878 (GRCm39)	E667K	possibly damaging	Het
Loxl3	T	C	6: 83,012,503 (GRCm39)	L14P	probably damaging	Het
Lrrd1	A	T	5: 3,900,963 (GRCm39)	K423*	probably null	Het
Mia2	A	G	12: 59,155,586 (GRCm39)	D433G	probably damaging	Het
Mpp2	G	T	11: 101,954,099 (GRCm39)	A216E	probably benign	Het
Mro	T	C	18: 74,009,911 (GRCm39)		probably null	Het
Mybpc1	T	G	10: 88,358,906 (GRCm39)	Y1081S	probably damaging	Het
Myh8	T	G	11: 67,190,141 (GRCm39)	S1260R	possibly damaging	Het
Myo3b	T	C	2: 70,082,094 (GRCm39)	V618A	probably damaging	Het
Naip2	T	G	13: 100,314,776 (GRCm39)	D334A	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nlrp4c	T	C	7: 6,107,608 (GRCm39)	*983Q	probably null	Het
Nlrp9a	T	G	7: 26,257,698 (GRCm39)	F439V	probably damaging	Het
Nploc4	A	T	11: 120,319,368 (GRCm39)	L64H	probably damaging	Het
Ola1	T	C	2: 72,924,060 (GRCm39)	E246G	probably benign	Het
Otof	G	A	5: 30,537,532 (GRCm39)	S1259F	probably benign	Het
Pde4dip	T	C	3: 97,599,675 (GRCm39)	T2438A	probably damaging	Het
Pex1	A	G	5: 3,686,844 (GRCm39)	T1242A	probably damaging	Het
Pink1	A	T	4: 138,043,056 (GRCm39)		probably benign	Het
Prkcq	A	G	2: 11,251,819 (GRCm39)	T219A	probably damaging	Het
Ptcd3	A	T	6: 71,880,458 (GRCm39)	Y88*	probably null	Het
Ptpru	A	G	4: 131,515,691 (GRCm39)	Y888H	probably damaging	Het
Rapgef6	A	G	11: 54,578,667 (GRCm39)	N1063S	probably benign	Het
Slc1a4	G	A	11: 20,282,532 (GRCm39)		probably benign	Het
Slc4a4	T	C	5: 89,205,568 (GRCm39)		probably benign	Het
Slc6a18	A	T	13: 73,819,822 (GRCm39)	N249K	possibly damaging	Het
Slco2b1	T	G	7: 99,338,214 (GRCm39)	I104L	probably damaging	Het
Syne3	A	T	12: 104,905,871 (GRCm39)	S897R	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tnni3k	A	G	3: 154,744,146 (GRCm39)	S69P	probably damaging	Het
Tnpo2	A	G	8: 85,780,163 (GRCm39)	K700E	probably benign	Het
Top3a	T	C	11: 60,636,695 (GRCm39)	K657E	probably damaging	Het
Trgv4	C	T	13: 19,369,169 (GRCm39)	Q7*	probably null	Het
Trim6	T	C	7: 103,875,159 (GRCm39)	L132P	probably damaging	Het
Tshz1	T	C	18: 84,032,987 (GRCm39)	T474A	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Vmn1r179	A	T	7: 23,628,234 (GRCm39)	I142L	probably benign	Het
Zbtb2	A	T	10: 4,319,183 (GRCm39)	F281Y	probably damaging	Het
Zfp318	T	C	17: 46,723,433 (GRCm39)	V1812A	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
R0003:Atp1a3	UTSW	7	24,688,989 (GRCm39)	splice site	probably benign
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
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'- TCGACAGTCTCGTTACCCTCAG -3'
(R):5'- TCCATCCCATTGCTGAGAGC -3'

Sequencing Primer
(F):5'- GACAGTCTCGTTACCCTCAGAGATG -3'
(R):5'- CTGTGTGCCCATTACCAGG -3'

Posted On

2021-11-19