Incidental Mutation 'R5066:Atp1a1'
ID 388313
Institutional Source Beutler Lab
Gene Symbol Atp1a1
Ensembl Gene ENSMUSG00000033161
Gene Name ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms Atpa-1
MMRRC Submission 042656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5066 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 101483535-101512000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101489420 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 731 (G731R)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
AlphaFold Q8VDN2
Predicted Effect probably damaging
Transcript: ENSMUST00000036493
AA Change: G731R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: G731R

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197360
Meta Mutation Damage Score 0.9706 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (45/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A T 11: 70,507,417 (GRCm39) Y154F probably benign Het
Abca5 A T 11: 110,200,176 (GRCm39) probably benign Het
Agtpbp1 T A 13: 59,622,364 (GRCm39) D11V probably damaging Het
Aldh1a2 G A 9: 71,188,982 (GRCm39) A299T possibly damaging Het
Apc T A 18: 34,449,158 (GRCm39) V1984D probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Atp13a2 G A 4: 140,732,449 (GRCm39) V905M probably damaging Het
Atrn T C 2: 130,836,113 (GRCm39) V1131A possibly damaging Het
Bcl2l13 T A 6: 120,863,982 (GRCm39) V312E possibly damaging Het
Chic2 A G 5: 75,187,817 (GRCm39) V81A possibly damaging Het
Drg1 A T 11: 3,209,353 (GRCm39) I122N possibly damaging Het
Efcab3 A G 11: 104,611,490 (GRCm39) D444G probably benign Het
Flt4 A G 11: 49,524,990 (GRCm39) N612S possibly damaging Het
Hadhb T C 5: 30,369,094 (GRCm39) probably benign Het
Heg1 G T 16: 33,559,041 (GRCm39) R856S probably benign Het
Ice2 A C 9: 69,315,573 (GRCm39) N143T probably benign Het
Igkv8-21 G A 6: 70,292,427 (GRCm39) Q4* probably null Het
Lrfn2 T C 17: 49,403,448 (GRCm39) S524P probably damaging Het
Mndal C A 1: 173,703,229 (GRCm39) A59S probably damaging Het
Mpp7 T C 18: 7,513,002 (GRCm39) E33G possibly damaging Het
Msantd5l A G 11: 51,145,251 (GRCm39) F112S probably damaging Het
Nedd4 T A 9: 72,617,801 (GRCm39) D187E probably damaging Het
Nfx1 A G 4: 40,991,868 (GRCm39) I519V probably benign Het
Or10p22 G A 10: 128,826,660 (GRCm39) R293Q probably damaging Het
Or6c204 T C 10: 129,022,433 (GRCm39) I286V possibly damaging Het
Padi1 T C 4: 140,556,748 (GRCm39) N153S probably damaging Het
Parp10 A G 15: 76,125,146 (GRCm39) probably benign Het
Setbp1 A T 18: 78,900,514 (GRCm39) M1051K probably damaging Het
Slc2a7 T A 4: 150,244,573 (GRCm39) M347K probably damaging Het
Slc45a2 C A 15: 11,012,693 (GRCm39) T232K probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Spata13 T C 14: 60,987,538 (GRCm39) Y899H possibly damaging Het
Sult1c2 T A 17: 54,281,026 (GRCm39) I26F probably damaging Het
Sybu A G 15: 44,541,040 (GRCm39) C341R probably damaging Het
Syk T A 13: 52,796,018 (GRCm39) S538T possibly damaging Het
Syne2 A G 12: 76,013,325 (GRCm39) T2840A probably benign Het
Thsd4 A G 9: 59,883,615 (GRCm39) C924R probably damaging Het
Tle1 A G 4: 72,076,504 (GRCm39) S175P probably benign Het
Tmbim4 C T 10: 120,053,537 (GRCm39) T112M probably benign Het
Tmprss11a A G 5: 86,567,859 (GRCm39) probably null Het
Tnc C A 4: 63,893,466 (GRCm39) D1698Y probably damaging Het
Ypel1 A G 16: 16,927,539 (GRCm39) Y18H probably benign Het
Other mutations in Atp1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Atp1a1 APN 3 101,498,769 (GRCm39) missense probably damaging 1.00
IGL01700:Atp1a1 APN 3 101,501,574 (GRCm39) missense possibly damaging 0.95
IGL01836:Atp1a1 APN 3 101,498,730 (GRCm39) missense probably damaging 1.00
IGL01863:Atp1a1 APN 3 101,499,205 (GRCm39) nonsense probably null
IGL02021:Atp1a1 APN 3 101,501,524 (GRCm39) missense probably benign 0.02
IGL02078:Atp1a1 APN 3 101,499,179 (GRCm39) missense probably damaging 1.00
IGL02873:Atp1a1 APN 3 101,483,894 (GRCm39) missense probably benign 0.16
IGL02934:Atp1a1 APN 3 101,484,308 (GRCm39) nonsense probably null
IGL03068:Atp1a1 APN 3 101,491,175 (GRCm39) missense probably benign 0.26
PIT4453001:Atp1a1 UTSW 3 101,488,495 (GRCm39) missense probably benign 0.01
R0009:Atp1a1 UTSW 3 101,487,151 (GRCm39) missense possibly damaging 0.67
R0506:Atp1a1 UTSW 3 101,497,128 (GRCm39) missense probably damaging 0.96
R0724:Atp1a1 UTSW 3 101,499,755 (GRCm39) missense possibly damaging 0.50
R0826:Atp1a1 UTSW 3 101,492,169 (GRCm39) missense probably damaging 0.99
R1457:Atp1a1 UTSW 3 101,497,782 (GRCm39) missense probably damaging 1.00
R1732:Atp1a1 UTSW 3 101,492,115 (GRCm39) missense probably damaging 1.00
R1843:Atp1a1 UTSW 3 101,489,333 (GRCm39) missense probably benign 0.43
R2172:Atp1a1 UTSW 3 101,497,864 (GRCm39) missense probably benign
R3770:Atp1a1 UTSW 3 101,488,510 (GRCm39) missense probably benign 0.17
R3905:Atp1a1 UTSW 3 101,497,928 (GRCm39) missense probably benign 0.00
R4602:Atp1a1 UTSW 3 101,494,259 (GRCm39) missense probably benign 0.00
R4611:Atp1a1 UTSW 3 101,494,259 (GRCm39) missense probably benign 0.00
R4715:Atp1a1 UTSW 3 101,499,122 (GRCm39) missense possibly damaging 0.90
R4777:Atp1a1 UTSW 3 101,502,312 (GRCm39) critical splice donor site probably null
R4795:Atp1a1 UTSW 3 101,491,091 (GRCm39) missense probably benign 0.15
R5030:Atp1a1 UTSW 3 101,487,133 (GRCm39) missense probably benign 0.22
R5165:Atp1a1 UTSW 3 101,489,105 (GRCm39) missense probably benign 0.01
R5297:Atp1a1 UTSW 3 101,498,443 (GRCm39) missense possibly damaging 0.82
R5307:Atp1a1 UTSW 3 101,497,280 (GRCm39) missense probably damaging 1.00
R5379:Atp1a1 UTSW 3 101,489,411 (GRCm39) missense probably benign 0.01
R5495:Atp1a1 UTSW 3 101,498,741 (GRCm39) missense probably benign 0.01
R5946:Atp1a1 UTSW 3 101,497,090 (GRCm39) missense probably benign 0.12
R6125:Atp1a1 UTSW 3 101,498,023 (GRCm39) missense probably damaging 1.00
R6789:Atp1a1 UTSW 3 101,493,614 (GRCm39) missense possibly damaging 0.71
R7339:Atp1a1 UTSW 3 101,497,188 (GRCm39) missense probably benign 0.44
R7552:Atp1a1 UTSW 3 101,489,437 (GRCm39) nonsense probably null
R7825:Atp1a1 UTSW 3 101,493,485 (GRCm39) missense probably benign 0.00
R8098:Atp1a1 UTSW 3 101,489,365 (GRCm39) missense probably damaging 0.97
R8175:Atp1a1 UTSW 3 101,492,170 (GRCm39) missense possibly damaging 0.79
R8281:Atp1a1 UTSW 3 101,486,940 (GRCm39) missense probably benign 0.12
R8403:Atp1a1 UTSW 3 101,494,220 (GRCm39) missense probably damaging 1.00
R8435:Atp1a1 UTSW 3 101,490,078 (GRCm39) missense probably benign
R8461:Atp1a1 UTSW 3 101,496,405 (GRCm39) missense probably benign 0.01
R8772:Atp1a1 UTSW 3 101,487,124 (GRCm39) missense probably benign
R8782:Atp1a1 UTSW 3 101,501,533 (GRCm39) missense possibly damaging 0.63
R8919:Atp1a1 UTSW 3 101,498,547 (GRCm39) missense probably damaging 1.00
R9066:Atp1a1 UTSW 3 101,489,338 (GRCm39) missense probably damaging 1.00
R9227:Atp1a1 UTSW 3 101,499,750 (GRCm39) missense probably damaging 1.00
R9712:Atp1a1 UTSW 3 101,498,757 (GRCm39) missense probably benign 0.06
X0019:Atp1a1 UTSW 3 101,501,529 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- GGACCTGAAGACAAGCTCAC -3'
(R):5'- TGGGGTCCATGTCTACTTAGCC -3'

Sequencing Primer
(F):5'- GCTCACTAACTGCCCACTGG -3'
(R):5'- GGTCCATGTCTACTTAGCCAAGATG -3'
Posted On 2016-06-06