Incidental Mutation 'R8281:Atp1a1'
ID 638186
Institutional Source Beutler Lab
Gene Symbol Atp1a1
Ensembl Gene ENSMUSG00000033161
Gene Name ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms Atpa-1
MMRRC Submission 067704-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8281 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 101483535-101512000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101486940 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 916 (F916L)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
AlphaFold Q8VDN2
Predicted Effect probably benign
Transcript: ENSMUST00000036493
AA Change: F916L

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: F916L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (44/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 G A 14: 68,745,334 (GRCm39) T630I possibly damaging Het
Adgrf3 T C 5: 30,402,301 (GRCm39) S576G possibly damaging Het
Asxl1 A G 2: 153,241,321 (GRCm39) R625G probably damaging Het
Axl C T 7: 25,463,379 (GRCm39) D633N probably benign Het
Ccdc168 T G 1: 44,095,698 (GRCm39) D1800A possibly damaging Het
Chd9 A G 8: 91,763,225 (GRCm39) D2350G probably damaging Het
Cic G A 7: 24,971,249 (GRCm39) V327I probably benign Het
Crym T A 7: 119,801,250 (GRCm39) probably benign Het
Cyp3a13 G C 5: 137,892,559 (GRCm39) S495C probably benign Het
D5Ertd579e A T 5: 36,770,664 (GRCm39) F137I Het
Dip2a T C 10: 76,112,438 (GRCm39) T1087A probably damaging Het
Drc7 G A 8: 95,788,805 (GRCm39) E288K possibly damaging Het
Epb41l4a T C 18: 34,011,998 (GRCm39) E174G probably damaging Het
Ern2 T C 7: 121,769,483 (GRCm39) R848G probably damaging Het
F13b G T 1: 139,438,689 (GRCm39) R364S probably benign Het
F2rl1 A G 13: 95,650,585 (GRCm39) L99P probably damaging Het
Fam193a C A 5: 34,600,780 (GRCm39) N171K unknown Het
Fst A G 13: 114,591,777 (GRCm39) S201P probably benign Het
Gm10110 C T 14: 90,135,677 (GRCm39) V76M noncoding transcript Het
Gm8232 A G 14: 44,674,548 (GRCm39) I182V Het
Iqca1l T A 5: 24,754,008 (GRCm39) H417L probably benign Het
Kalrn C T 16: 33,855,431 (GRCm39) W1956* probably null Het
Klk1b16 A G 7: 43,790,971 (GRCm39) M258V probably benign Het
Lta4h G T 10: 93,289,456 (GRCm39) D29Y probably damaging Het
Marchf7 C T 2: 60,064,873 (GRCm39) S383L probably benign Het
Mob3c T C 4: 115,688,635 (GRCm39) I56T probably benign Het
Msl2 T C 9: 100,978,894 (GRCm39) S423P probably benign Het
Otop3 T C 11: 115,235,901 (GRCm39) I511T possibly damaging Het
Pbld2 T G 10: 62,883,805 (GRCm39) L90R probably damaging Het
Pcdh8 A G 14: 80,006,919 (GRCm39) V548A probably damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plch2 T A 4: 155,091,430 (GRCm39) M228L probably benign Het
Prkdc T C 16: 15,523,117 (GRCm39) C1180R probably damaging Het
Rasl2-9 A T 7: 5,128,351 (GRCm39) L193* probably null Het
Rbp3 A G 14: 33,678,320 (GRCm39) K756R probably benign Het
Rp1 T C 1: 4,418,139 (GRCm39) E991G probably damaging Het
Slc12a7 G A 13: 73,938,796 (GRCm39) R191H probably damaging Het
Spaca6 A G 17: 18,052,321 (GRCm39) N87S possibly damaging Het
Spata31e5 C T 1: 28,817,225 (GRCm39) C269Y possibly damaging Het
Speer1h T A 5: 11,647,646 (GRCm39) M128K probably damaging Het
Stab2 A T 10: 86,709,728 (GRCm39) V1639E probably damaging Het
Thpo T C 16: 20,544,525 (GRCm39) N235S possibly damaging Het
Tmem63b T A 17: 45,971,722 (GRCm39) H831L probably benign Het
Tomm20l T C 12: 71,158,241 (GRCm39) V8A probably benign Het
Trav13-5 A G 14: 54,032,918 (GRCm39) R3G possibly damaging Het
Vill T C 9: 118,887,547 (GRCm39) S104P probably damaging 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
R5066:Atp1a1 UTSW 3 101,489,420 (GRCm39) missense probably damaging 0.98
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
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'- GAACTAGGTCATAGATGTGGGATGC -3'
(R):5'- TTTCACCTGTTGGGCATCCG -3'

Sequencing Primer
(F):5'- TGGGATGCTGAATTTATTCTAAAGG -3'
(R):5'- TGTTGGGCATCCGAGAGAC -3'
Posted On 2020-07-28