Mutagenetix > Incidental Mutation

Incidental Mutation 'R8772:Atp1a1'

664444

Institutional Source

Beutler Lab

Gene Symbol

Atp1a1

Ensembl Gene

ENSMUSG00000033161

Gene Name

ATPase, Na+/K+ transporting, alpha 1 polypeptide

Synonyms

Atpa-1

MMRRC Submission

068626-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8772 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101576219-101604684 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101579808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 895 (V895G)

Ref Sequence

ENSEMBL: ENSMUSP00000039657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036493]

AlphaFold

Q8VDN2

Predicted Effect

probably benign
Transcript: ENSMUST00000036493
AA Change: V895G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: V895G

Domain	Start	End	E-Value	Type
low complexity region	21	28	N/A	INTRINSIC
Cation_ATPase_N	42	116	5e-20	SMART
Pfam:E1-E2_ATPase	134	365	1.6e-59	PFAM
Pfam:Hydrolase	370	729	2.7e-19	PFAM
Pfam:HAD	373	726	1.3e-18	PFAM
Pfam:Cation_ATPase	426	521	2.2e-25	PFAM
Pfam:Cation_ATPase_C	799	1008	1.2e-46	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (83/83)

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 1 subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene have a lethal phenotype. Heterozygotes display increased anxiety and decreased exploratory behavior in a new environment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,977 (GRCm38)	V574A	probably benign	Het
AC157566.4	T	C	15: 76,534,249 (GRCm38)	Y20C	probably benign	Het
Acacb	A	T	5: 114,184,118 (GRCm38)	D231V	possibly damaging	Het
Acp7	C	T	7: 28,616,484 (GRCm38)	V226M	probably damaging	Het
Actr1a	A	G	19: 46,382,292 (GRCm38)		probably null	Het
Adamts16	T	C	13: 70,836,334 (GRCm38)	Y70C	probably damaging	Het
Adcy5	G	A	16: 35,299,588 (GRCm38)	A1156T	probably damaging	Het
Ago1	A	T	4: 126,460,523 (GRCm38)		probably benign	Het
Akap9	G	A	5: 4,046,255 (GRCm38)	E2377K	probably damaging	Het
Asic2	A	G	11: 81,967,887 (GRCm38)	S100P	probably benign	Het
B3gnt7	A	G	1: 86,305,572 (GRCm38)	E180G	possibly damaging	Het
Cacna1c	A	T	6: 118,602,322 (GRCm38)	F1805I		Het
Cacna1g	A	G	11: 94,465,887 (GRCm38)	I141T	probably benign	Het
Ccdc162	A	G	10: 41,630,037 (GRCm38)	L919P	probably damaging	Het
Cd47	A	G	16: 49,884,212 (GRCm38)	I116V		Het
Cdca2	A	T	14: 67,698,080 (GRCm38)	D395E	probably damaging	Het
Celsr2	A	T	3: 108,397,073 (GRCm38)	I2285N	possibly damaging	Het
Chil5	T	C	3: 106,018,220 (GRCm38)	D157G	probably damaging	Het
Ciita	A	T	16: 10,480,162 (GRCm38)	I7F	probably damaging	Het
Dok7	G	T	5: 35,077,249 (GRCm38)	G215C	probably damaging	Het
Eif2s2	T	C	2: 154,887,739 (GRCm38)	I88V	probably null	Het
Fasn	A	T	11: 120,820,536 (GRCm38)	D217E	probably benign	Het
Fgd5	T	A	6: 92,050,419 (GRCm38)	I1030N	probably damaging	Het
Fpr-rs6	T	A	17: 20,182,233 (GRCm38)	N289Y	probably damaging	Het
Gm10392	C	T	11: 77,518,454 (GRCm38)	V49I	possibly damaging	Het
Gtf3c2	A	T	5: 31,174,414 (GRCm38)	M20K	probably benign	Het
Hoga1	A	G	19: 42,045,945 (GRCm38)	M10V	probably benign	Het
Homer1	T	A	13: 93,391,731 (GRCm38)	V258E	probably damaging	Het
Ifitm2	A	G	7: 140,955,890 (GRCm38)	L9S	probably benign	Het
Iqgap3	G	A	3: 88,089,837 (GRCm38)	A176T	probably benign	Het
Itga8	C	G	2: 12,182,684 (GRCm38)	G728A	probably damaging	Het
Lyst	C	T	13: 13,637,492 (GRCm38)	Q830*	probably null	Het
Macc1	T	C	12: 119,447,485 (GRCm38)	W663R	probably damaging	Het
Mipol1	A	T	12: 57,325,632 (GRCm38)	H159L	probably benign	Het
Mocs1	T	A	17: 49,450,374 (GRCm38)		probably null	Het
Ncoa1	T	C	12: 4,322,940 (GRCm38)	T154A	possibly damaging	Het
Noxred1	A	C	12: 87,227,093 (GRCm38)	L58R	probably benign	Het
Opcml	T	C	9: 27,791,411 (GRCm38)	V9A	probably benign	Het
Or51e2	G	A	7: 102,743,003 (GRCm38)		probably benign	Het
Or5ac23	A	G	16: 59,328,688 (GRCm38)	S274P	probably damaging	Het
Or8c17	G	A	9: 38,268,935 (GRCm38)	V133I	probably benign	Het
Otog	A	T	7: 46,284,928 (GRCm38)	R1303S	probably damaging	Het
Parp11	T	A	6: 127,470,763 (GRCm38)	M20K	possibly damaging	Het
Parp11	T	A	6: 127,491,704 (GRCm38)	I322N	probably damaging	Het
Pde1b	T	C	15: 103,525,121 (GRCm38)		probably benign	Het
Pglyrp4	A	T	3: 90,740,400 (GRCm38)	T356S	possibly damaging	Het
Pitrm1	A	G	13: 6,578,560 (GRCm38)	D963G	probably damaging	Het
Plod3	T	C	5: 136,988,919 (GRCm38)	V183A	probably damaging	Het
Plxnb2	C	T	15: 89,162,746 (GRCm38)	V791M	probably damaging	Het
Poc1b	T	A	10: 99,156,357 (GRCm38)		probably benign	Het
Ppp1r7	A	G	1: 93,354,428 (GRCm38)	T234A	probably benign	Het
Pxdn	C	T	12: 30,015,464 (GRCm38)	T1441I	probably damaging	Het
Rap1gap2	T	C	11: 74,405,725 (GRCm38)	K479E	probably damaging	Het
Rars2	A	G	4: 34,623,488 (GRCm38)	D63G	probably benign	Het
Rptor	A	C	11: 119,725,032 (GRCm38)	D124A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908 (GRCm38)		probably benign	Het
Ryr1	C	A	7: 29,116,132 (GRCm38)	R118L	probably benign	Het
Sap130	G	C	18: 31,680,464 (GRCm38)	D525H	probably damaging	Het
Slc22a26	T	C	19: 7,790,112 (GRCm38)	N310D	probably benign	Het
Slc46a1	T	G	11: 78,465,951 (GRCm38)	N58K	probably benign	Het
Slc4a10	T	A	2: 62,303,940 (GRCm38)	I1000N	probably damaging	Het
Son	C	T	16: 91,657,938 (GRCm38)	T1191I	possibly damaging	Het
Sppl2a	T	C	2: 126,926,311 (GRCm38)	K146E	probably benign	Het
Srgap3	T	A	6: 112,766,945 (GRCm38)	K444I	probably damaging	Het
Sun1	T	C	5: 139,223,692 (GRCm38)	V59A	probably benign	Het
Sva	T	A	6: 42,038,509 (GRCm38)	Y37N	probably benign	Het
Taar8c	T	A	10: 24,101,807 (GRCm38)	M36L	probably benign	Het
Taf4b	C	T	18: 14,835,852 (GRCm38)	T682I	probably damaging	Het
Tbx5	T	A	5: 119,838,725 (GRCm38)	H59Q	probably benign	Het
Tdrd1	A	T	19: 56,855,328 (GRCm38)	Y746F	probably damaging	Het
Tmem132e	A	G	11: 82,434,311 (GRCm38)	S46G	probably damaging	Het
Tnfaip6	T	A	2: 52,051,065 (GRCm38)	V206E	possibly damaging	Het
Tpbpb	T	A	13: 60,901,379 (GRCm38)		probably benign	Het
Ttn	T	A	2: 76,937,681 (GRCm38)	K3025*	probably null	Het
Tulp4	T	A	17: 6,176,893 (GRCm38)	I106N	probably damaging	Het
Ubp1	T	A	9: 113,972,829 (GRCm38)	F454Y	probably benign	Het
Ugt2b37	A	T	5: 87,254,486 (GRCm38)	N95K	probably benign	Het
Vps13d	T	A	4: 145,075,032 (GRCm38)	R3539W		Het
Vsnl1	T	C	12: 11,332,179 (GRCm38)	H67R	probably damaging	Het
Zbbx	A	G	3: 75,155,385 (GRCm38)	Y22H	probably benign	Het
Zeb1	A	G	18: 5,770,382 (GRCm38)		probably null	Het
Zfp142	A	T	1: 74,571,666 (GRCm38)	L990Q	possibly damaging	Het
Zmiz1	G	A	14: 25,645,694 (GRCm38)	G265D	probably damaging	Het

Other mutations in Atp1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Atp1a1	APN	3	101,591,453 (GRCm38)	missense	probably damaging	1.00
IGL01700:Atp1a1	APN	3	101,594,258 (GRCm38)	missense	possibly damaging	0.95
IGL01836:Atp1a1	APN	3	101,591,414 (GRCm38)	missense	probably damaging	1.00
IGL01863:Atp1a1	APN	3	101,591,889 (GRCm38)	nonsense	probably null
IGL02021:Atp1a1	APN	3	101,594,208 (GRCm38)	missense	probably benign	0.02
IGL02078:Atp1a1	APN	3	101,591,863 (GRCm38)	missense	probably damaging	1.00
IGL02873:Atp1a1	APN	3	101,576,578 (GRCm38)	missense	probably benign	0.16
IGL02934:Atp1a1	APN	3	101,576,992 (GRCm38)	nonsense	probably null
IGL03068:Atp1a1	APN	3	101,583,859 (GRCm38)	missense	probably benign	0.26
PIT4453001:Atp1a1	UTSW	3	101,581,179 (GRCm38)	missense	probably benign	0.01
R0009:Atp1a1	UTSW	3	101,579,835 (GRCm38)	missense	possibly damaging	0.67
R0506:Atp1a1	UTSW	3	101,589,812 (GRCm38)	missense	probably damaging	0.96
R0724:Atp1a1	UTSW	3	101,592,439 (GRCm38)	missense	possibly damaging	0.50
R0826:Atp1a1	UTSW	3	101,584,853 (GRCm38)	missense	probably damaging	0.99
R1457:Atp1a1	UTSW	3	101,590,466 (GRCm38)	missense	probably damaging	1.00
R1732:Atp1a1	UTSW	3	101,584,799 (GRCm38)	missense	probably damaging	1.00
R1843:Atp1a1	UTSW	3	101,582,017 (GRCm38)	missense	probably benign	0.43
R2172:Atp1a1	UTSW	3	101,590,548 (GRCm38)	missense	probably benign
R3770:Atp1a1	UTSW	3	101,581,194 (GRCm38)	missense	probably benign	0.17
R3905:Atp1a1	UTSW	3	101,590,612 (GRCm38)	missense	probably benign	0.00
R4602:Atp1a1	UTSW	3	101,586,943 (GRCm38)	missense	probably benign	0.00
R4611:Atp1a1	UTSW	3	101,586,943 (GRCm38)	missense	probably benign	0.00
R4715:Atp1a1	UTSW	3	101,591,806 (GRCm38)	missense	possibly damaging	0.90
R4777:Atp1a1	UTSW	3	101,594,996 (GRCm38)	critical splice donor site	probably null
R4795:Atp1a1	UTSW	3	101,583,775 (GRCm38)	missense	probably benign	0.15
R5030:Atp1a1	UTSW	3	101,579,817 (GRCm38)	missense	probably benign	0.22
R5066:Atp1a1	UTSW	3	101,582,104 (GRCm38)	missense	probably damaging	0.98
R5165:Atp1a1	UTSW	3	101,581,789 (GRCm38)	missense	probably benign	0.01
R5297:Atp1a1	UTSW	3	101,591,127 (GRCm38)	missense	possibly damaging	0.82
R5307:Atp1a1	UTSW	3	101,589,964 (GRCm38)	missense	probably damaging	1.00
R5379:Atp1a1	UTSW	3	101,582,095 (GRCm38)	missense	probably benign	0.01
R5495:Atp1a1	UTSW	3	101,591,425 (GRCm38)	missense	probably benign	0.01
R5946:Atp1a1	UTSW	3	101,589,774 (GRCm38)	missense	probably benign	0.12
R6125:Atp1a1	UTSW	3	101,590,707 (GRCm38)	missense	probably damaging	1.00
R6789:Atp1a1	UTSW	3	101,586,298 (GRCm38)	missense	possibly damaging	0.71
R7339:Atp1a1	UTSW	3	101,589,872 (GRCm38)	missense	probably benign	0.44
R7552:Atp1a1	UTSW	3	101,582,121 (GRCm38)	nonsense	probably null
R7825:Atp1a1	UTSW	3	101,586,169 (GRCm38)	missense	probably benign	0.00
R8098:Atp1a1	UTSW	3	101,582,049 (GRCm38)	missense	probably damaging	0.97
R8175:Atp1a1	UTSW	3	101,584,854 (GRCm38)	missense	possibly damaging	0.79
R8281:Atp1a1	UTSW	3	101,579,624 (GRCm38)	missense	probably benign	0.12
R8403:Atp1a1	UTSW	3	101,586,904 (GRCm38)	missense	probably damaging	1.00
R8435:Atp1a1	UTSW	3	101,582,762 (GRCm38)	missense	probably benign
R8461:Atp1a1	UTSW	3	101,589,089 (GRCm38)	missense	probably benign	0.01
R8782:Atp1a1	UTSW	3	101,594,217 (GRCm38)	missense	possibly damaging	0.63
R8919:Atp1a1	UTSW	3	101,591,231 (GRCm38)	missense	probably damaging	1.00
R9066:Atp1a1	UTSW	3	101,582,022 (GRCm38)	missense	probably damaging	1.00
R9227:Atp1a1	UTSW	3	101,592,434 (GRCm38)	missense	probably damaging	1.00
R9712:Atp1a1	UTSW	3	101,591,441 (GRCm38)	missense	probably benign	0.06
X0019:Atp1a1	UTSW	3	101,594,213 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGCTCGTAGGTCTGAAAGGG -3'
(R):5'- AGTTGGTGATCCAGAATGGG -3'

Sequencing Primer
(F):5'- CTCGTAGGTCTGAAAGGGGAAGC -3'
(R):5'- AGAACTCTCTGGGGCTGCTG -3'

Posted On

2021-03-08