Mutagenetix > Incidental Mutations

Incidental Mutation 'R3112:Atp1a3'

477860

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

MMRRC Submission

040585-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24978167-25005958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24994694 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 345 (N345S)

Ref Sequence

ENSEMBL: ENSMUSP00000099922 (fasta)

Gene Model

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

AlphaFold

Q6PIC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080882
AA Change: N345S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: N345S

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: N345S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: N345S

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

probably damaging
Transcript: ENSMUST00000196684
AA Change: N358S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: N358S

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

Meta Mutation Damage Score

0.2041

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (38/38)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,054	L131F	probably damaging	Het
Abca6	T	A	11: 110,178,829	K1554*	probably null	Het
Acads	T	C	5: 115,117,698	H26R	probably benign	Het
Acer1	G	A	17: 56,958,406	T141I	probably damaging	Het
Adam15	C	G	3: 89,347,457	V99L	probably benign	Het
Ankrd13b	A	G	11: 77,477,505	V97A	possibly damaging	Het
Anpep	T	C	7: 79,841,972	T94A	probably benign	Het
Btn1a1	T	A	13: 23,461,551	N216I	possibly damaging	Het
Cacna1s	G	A	1: 136,075,093	W62*	probably null	Het
Ccdc141	C	T	2: 77,039,486	V892I	probably benign	Het
Ccdc180	T	A	4: 45,900,470	I278K	possibly damaging	Het
Cdc7	T	G	5: 106,974,698		probably null	Het
Cpb1	C	T	3: 20,265,357	V188M	probably damaging	Het
Dock5	A	G	14: 67,857,922	I101T	possibly damaging	Het
Dqx1	T	C	6: 83,058,972	V95A	probably damaging	Het
Dvl1	T	A	4: 155,853,666	D90E	probably damaging	Het
Fam135b	T	C	15: 71,464,030	I438M	probably benign	Het
Fam57a	A	G	11: 76,202,231	D33G	probably benign	Het
Fpr1	A	T	17: 17,876,635	M364K	probably benign	Het
Gm14139	C	G	2: 150,192,221	P185R	probably damaging	Het
Gm7030	T	C	17: 36,129,146	Y32C	probably damaging	Het
Gpat4	G	A	8: 23,180,155	P286L	probably damaging	Het
Gpx7	C	A	4: 108,403,273	V109F	probably damaging	Het
Grhl2	T	C	15: 37,336,347		probably null	Het
Grn	A	G	11: 102,433,243	T53A	probably benign	Het
Hist1h1e	T	C	13: 23,621,846		probably benign	Het
Hmgxb3	T	C	18: 61,147,382	N683S	probably damaging	Het
Iigp1	T	C	18: 60,390,911	I367T	probably benign	Het
Itfg2	T	C	6: 128,411,669	E285G	probably damaging	Het
Itgav	T	A	2: 83,792,571	C662*	probably null	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Lipe	T	C	7: 25,398,423	T32A	probably benign	Het
Lrrk2	A	G	15: 91,814,695	Y2475C	probably benign	Het
Mcc	T	C	18: 44,449,263	D607G	probably damaging	Het
Mip	T	A	10: 128,226,006	L42*	probably null	Het
Mlc1	A	T	15: 88,965,996	D192E	probably benign	Het
Muc2	T	C	7: 141,745,488		probably benign	Het
Mybl1	T	C	1: 9,681,870	D260G	probably damaging	Het
Ncln	C	T	10: 81,487,685	V51I	probably benign	Het
Nlrp9a	T	C	7: 26,557,872	V305A	probably benign	Het
Nodal	G	A	10: 61,424,497	R309Q	possibly damaging	Het
Olfr1338	A	T	4: 118,754,224	F105I	probably damaging	Het
Olfr294	T	C	7: 86,615,676	Y323C	probably benign	Het
Olfr536	A	G	7: 140,503,919	I180T	probably damaging	Het
Olr1	T	C	6: 129,499,918	N128S	possibly damaging	Het
Orc1	T	A	4: 108,604,560	C585S	probably benign	Het
Pcmtd2	A	T	2: 181,855,129	I300F	probably damaging	Het
Pfkfb4	C	T	9: 109,025,042		probably benign	Het
Phactr3	T	A	2: 178,279,017	L180Q	possibly damaging	Het
Pigo	T	C	4: 43,021,083	T612A	probably benign	Het
Plch1	T	A	3: 63,709,531	D766V	probably damaging	Het
Plekhh3	T	C	11: 101,164,147		probably benign	Het
Ppp1r12b	T	A	1: 134,872,832	T547S	probably damaging	Het
Prkcb	T	A	7: 122,516,856	M186K	probably damaging	Het
Prpf3	A	T	3: 95,849,800		probably benign	Het
Psg23	T	C	7: 18,610,444	D362G	possibly damaging	Het
Reg3a	T	C	6: 78,381,131	L15P	probably damaging	Het
Scrib	A	T	15: 76,069,374	I5N	probably damaging	Het
Speg	C	T	1: 75,422,682	Q2005*	probably null	Het
Sppl3	A	T	5: 115,074,864	S51C	possibly damaging	Het
Sspo	A	G	6: 48,457,600	T1009A	probably damaging	Het
Syce1l	A	G	8: 113,654,947	Q164R	probably benign	Het
Sympk	T	C	7: 19,034,484	V126A	possibly damaging	Het
Tas2r110	T	A	6: 132,868,024	I6K	unknown	Het
Tas2r120	A	T	6: 132,657,768	H271L	probably damaging	Het
Tnn	T	A	1: 160,116,286	T986S	possibly damaging	Het
Trim5	T	C	7: 104,279,638	H32R	probably damaging	Het
Ttc13	A	G	8: 124,683,834	I360T	possibly damaging	Het
Uaca	A	G	9: 60,871,499	E1054G	probably damaging	Het
Usp16	T	A	16: 87,471,848		probably null	Het
Wee1	T	A	7: 110,130,836	S382R	probably damaging	Het
Wnt11	T	C	7: 98,846,564	S92P	probably damaging	Het
Zfp786	A	G	6: 47,820,226	C593R	probably damaging	Het
Zfp879	T	G	11: 50,833,162	I283L	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
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
R6183:Atp1a3	UTSW	7	24981752	missense	probably damaging	1.00
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

Posted On

2017-05-15