Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:Atp1a3'

607427

Institutional Source

Beutler Lab

Gene Symbol

Atp1a3

Ensembl Gene

ENSMUSG00000040907

Gene Name

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

Synonyms

Atpa-2

MMRRC Submission

045913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24677592-24705383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24681216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 790 (L790Q)

Ref Sequence

ENSEMBL: ENSMUSP00000079691 (fasta)

Gene Model

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

AlphaFold

Q6PIC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000080882
AA Change: L790Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: L790Q

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: L790Q

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

SMART Domains

Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: L790Q

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: L803Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: L803Q

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

0.7389

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clcn4	C	A	7: 7,296,060 (GRCm39)	G261C	probably damaging	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Cxxc4	A	G	3: 133,963,814 (GRCm39)	R353G	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Kcnh2	C	T	5: 24,529,561 (GRCm39)	C725Y	probably damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc38a9	A	T	13: 112,868,148 (GRCm39)	I545F	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St3gal1	A	G	15: 66,983,114 (GRCm39)	V214A	probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	probably 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
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
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'- GAGCCTTTCGTTGACCAGTTTG -3'
(R):5'- GAGACAGGGCTCCATTAGAC -3'

Sequencing Primer
(F):5'- CATGATGTCGCTCTCGGC -3'
(R):5'- TTAGACCCCAAGTTCTAAGCCTG -3'

Posted On

2019-12-20