Mutagenetix > Incidental Mutations

Incidental Mutation 'R6183:Atp1a3'

487623

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24978167-25005958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24981752 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 816 (G816D)

Ref Sequence

ENSEMBL: ENSMUSP00000143735 (fasta)

Gene Model

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

AlphaFold

Q6PIC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080882
AA Change: G803D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: G803D

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 damaging
Transcript: ENSMUST00000102858
AA Change: G803D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: G803D

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 damaging
Transcript: ENSMUST00000196684
AA Change: G816D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: G816D

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

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 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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,487,976	Y358H	probably damaging	Het
5830411N06Rik	A	G	7: 140,296,034	T404A	possibly damaging	Het
Abcb4	T	A	5: 8,918,718	D352E	probably benign	Het
Adgrb3	T	A	1: 25,094,370	I972L	probably damaging	Het
Alg3	T	C	16: 20,610,641	Y33C	probably benign	Het
Ces1g	C	T	8: 93,331,239	V145M	possibly damaging	Het
Clip1	A	G	5: 123,642,604	S339P	probably damaging	Het
Col2a1	G	T	15: 97,988,790	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,275,568		probably benign	Het
Dnah12	T	A	14: 26,861,769	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,137,258	T416A	probably benign	Het
Ephb1	A	T	9: 102,195,325	I85N	probably damaging	Het
Etnppl	T	C	3: 130,620,317	C22R	probably damaging	Het
F830016B08Rik	A	G	18: 60,299,877	T11A	probably benign	Het
Gm5458	C	A	14: 19,599,644	V171L	probably damaging	Het
Helb	G	T	10: 120,112,998		probably null	Het
Hnrnpll	A	G	17: 80,049,876	V237A	possibly damaging	Het
Hps3	T	C	3: 20,008,868	T712A	probably benign	Het
Ibsp	A	G	5: 104,306,030	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,446,436	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,378,124	Q58K	probably damaging	Het
Iqcg	T	C	16: 33,030,923	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,350,108	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 142,229,787	C42F	unknown	Het
Lmod3	T	C	6: 97,252,553	N7D	probably damaging	Het
Lvrn	A	G	18: 46,850,685	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,426,229	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,232	V68D	probably damaging	Het
Olfr1507	T	A	14: 52,490,731	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,752,262	I162F	probably damaging	Het
Prokr1	T	C	6: 87,588,852	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,458,129		probably benign	Het
Rgl1	C	T	1: 152,586,570	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,408,491	W21R	probably benign	Het
Spast	A	G	17: 74,373,358	I438M	probably damaging	Het
Sptbn5	C	T	2: 120,059,417		probably benign	Het
Sry	C	G	Y: 2,662,975	Q228H	unknown	Het
Tas1r1	A	G	4: 152,032,541	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,275,425	N439D	probably damaging	Het
Tjp2	C	T	19: 24,100,791	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,611,757	L47P	probably damaging	Het
Unc13a	A	T	8: 71,644,666	S1195T	probably damaging	Het
Usp54	T	C	14: 20,552,245	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,269,290	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,350,069	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,995,558	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,443,930	N470K	probably damaging	Het
Zc3h7a	A	T	16: 11,147,370	I633N	possibly damaging	Het

Other mutations in Atp1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02129:Atp1a3	APN	7	24997286	missense	probably damaging	0.98
IGL02736:Atp1a3	APN	7	24980109	missense	probably damaging	1.00
IGL02738:Atp1a3	APN	7	24990476	missense	possibly damaging	0.86
IGL02806:Atp1a3	APN	7	24981872	missense	probably damaging	1.00
borah	UTSW	7	24994569	missense	probably damaging	1.00
Clonic	UTSW	7	24987985	missense	probably benign	0.37
Littlewolf	UTSW	7	24981791	missense	probably damaging	1.00
R0003:Atp1a3	UTSW	7	24989564	splice site	probably benign
R0254:Atp1a3	UTSW	7	24981512	splice site	probably benign
R0420:Atp1a3	UTSW	7	24980627	missense	probably benign
R0437:Atp1a3	UTSW	7	24998967	missense	probably benign	0.36
R0666:Atp1a3	UTSW	7	24990549	missense	probably benign	0.01
R0932:Atp1a3	UTSW	7	24987976	critical splice donor site	probably null
R1586:Atp1a3	UTSW	7	24979383	missense	probably damaging	0.97
R1981:Atp1a3	UTSW	7	25000975	missense	probably benign	0.19
R2105:Atp1a3	UTSW	7	24989853	missense	probably damaging	1.00
R3076:Atp1a3	UTSW	7	24980073	missense	possibly damaging	0.48
R3110:Atp1a3	UTSW	7	24994694	missense	probably damaging	1.00
R3112:Atp1a3	UTSW	7	24994694	missense	probably damaging	1.00
R4223:Atp1a3	UTSW	7	25000930	missense	probably benign	0.09
R4327:Atp1a3	UTSW	7	24987631	intron	probably benign
R4598:Atp1a3	UTSW	7	24979341	missense	probably damaging	0.99
R4626:Atp1a3	UTSW	7	24998768	missense	possibly damaging	0.75
R4789:Atp1a3	UTSW	7	24998964	missense	probably damaging	1.00
R4963:Atp1a3	UTSW	7	24994626	missense	probably damaging	0.97
R5243:Atp1a3	UTSW	7	24994569	missense	probably damaging	1.00
R5294:Atp1a3	UTSW	7	24988048	missense	probably damaging	0.98
R5668:Atp1a3	UTSW	7	24978869	intron	probably benign
R5704:Atp1a3	UTSW	7	24997311	missense	probably damaging	0.98
R5870:Atp1a3	UTSW	7	24997578	missense	probably benign	0.03
R5934:Atp1a3	UTSW	7	24978874	intron	probably benign
R6492:Atp1a3	UTSW	7	24979304	missense	probably damaging	1.00
R6996:Atp1a3	UTSW	7	24997626	missense	probably damaging	1.00
R7165:Atp1a3	UTSW	7	24978965	missense	probably benign	0.13
R7229:Atp1a3	UTSW	7	24987985	missense	probably benign	0.37
R7239:Atp1a3	UTSW	7	25000704	missense	probably damaging	1.00
R7301:Atp1a3	UTSW	7	24990515	missense	probably benign	0.00
R7330:Atp1a3	UTSW	7	25001152	nonsense	probably null
R7348:Atp1a3	UTSW	7	24978826	missense	unknown
R7432:Atp1a3	UTSW	7	25005875	unclassified	probably benign
R7490:Atp1a3	UTSW	7	24987470	missense	probably damaging	1.00
R7556:Atp1a3	UTSW	7	24981566	missense	probably benign	0.02
R7860:Atp1a3	UTSW	7	24981791	missense	probably damaging	1.00
R7861:Atp1a3	UTSW	7	25001148	missense	unknown
R7993:Atp1a3	UTSW	7	25000981	critical splice acceptor site	probably null
R8002:Atp1a3	UTSW	7	25000671	missense	probably damaging	1.00
R8010:Atp1a3	UTSW	7	24980645	missense	possibly damaging	0.90
R8430:Atp1a3	UTSW	7	24999012	missense	probably damaging	1.00
R8780:Atp1a3	UTSW	7	24981554	missense	probably damaging	0.96
R8837:Atp1a3	UTSW	7	24978555	missense	probably damaging	1.00
R9031:Atp1a3	UTSW	7	24989787	critical splice donor site	probably null
R9220:Atp1a3	UTSW	7	24997200	nonsense	probably null
R9259:Atp1a3	UTSW	7	24997531	missense	probably damaging	1.00
Z1176:Atp1a3	UTSW	7	24998688	missense	probably benign	0.00
Z1177:Atp1a3	UTSW	7	24980119	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GATGAGCCTTTCGTTGACCAG -3'
(R):5'- GACCCCAAGTTCTAAGCCTG -3'

Sequencing Primer
(F):5'- GAGCCTTTCGTTGACCAGTTTGTC -3'
(R):5'- AAGTTCTAAGCCTGCTCCTCCTG -3'

Posted On

2017-10-10