Incidental Mutation 'R5495:Atp1a1'
ID 432281
Institutional Source Beutler Lab
Gene Symbol Atp1a1
Ensembl Gene ENSMUSG00000033161
Gene Name ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms Atpa-1
MMRRC Submission 043056-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5495 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 101576219-101604684 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101591425 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 184 (D184A)
Ref Sequence ENSEMBL: ENSMUSP00000039657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036493]
AlphaFold Q8VDN2
Predicted Effect probably benign
Transcript: ENSMUST00000036493
AA Change: D184A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000039657
Gene: ENSMUSG00000033161
AA Change: D184A

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: ENSMUST00000136340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200347
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency
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
Akt2 T C 7: 27,636,169 (GRCm38) probably null Het
Arhgap29 T G 3: 122,014,929 (GRCm38) M844R probably damaging Het
Bcl11a T A 11: 24,165,042 (GRCm38) V795E possibly damaging Het
Casp12 T A 9: 5,353,797 (GRCm38) I277N possibly damaging Het
Ccdc59 A G 10: 105,845,378 (GRCm38) K164E probably damaging Het
D630003M21Rik C T 2: 158,220,511 (GRCm38) G30S possibly damaging Het
Dgkd A G 1: 87,926,872 (GRCm38) D632G probably damaging Het
Efr3a A G 15: 65,815,409 (GRCm38) K56E possibly damaging Het
Egflam T A 15: 7,251,241 (GRCm38) R434S probably damaging Het
Fancl C G 11: 26,397,801 (GRCm38) A51G probably damaging Het
Fkbp7 T C 2: 76,663,294 (GRCm38) Y185C probably damaging Het
Galc A G 12: 98,231,414 (GRCm38) probably null Het
Galnt15 A G 14: 32,029,817 (GRCm38) S109G probably damaging Het
Gm13757 T C 2: 88,446,057 (GRCm38) T294A probably benign Het
Gramd2b T C 18: 56,482,622 (GRCm38) I163T probably damaging Het
Impa1 A G 3: 10,326,170 (GRCm38) V80A probably benign Het
Itga10 T C 3: 96,647,371 (GRCm38) M56T possibly damaging Het
Larp1b G T 3: 41,035,822 (GRCm38) R135I probably damaging Het
Lgals12 C T 19: 7,604,130 (GRCm38) A71T probably damaging Het
Lmbr1 A T 5: 29,346,853 (GRCm38) L78* probably null Het
Lrat C A 3: 82,896,982 (GRCm38) M229I probably benign Het
Mug2 A T 6: 122,079,650 (GRCm38) M1185L probably damaging Het
Naprt T C 15: 75,893,847 (GRCm38) probably null Het
Nfat5 A G 8: 107,368,447 (GRCm38) I1107V probably benign Het
Nr4a2 T C 2: 57,112,375 (GRCm38) Y22C probably damaging Het
Ogfod1 C A 8: 94,064,278 (GRCm38) Q526K probably benign Het
Or2d4 C A 7: 106,944,492 (GRCm38) G170* probably null Het
Or3a10 G A 11: 74,044,785 (GRCm38) T163I probably damaging Het
Or8g36 T C 9: 39,511,145 (GRCm38) T192A probably benign Het
Parp10 T G 15: 76,243,166 (GRCm38) I24L probably benign Het
Pcdha11 A G 18: 37,011,026 (GRCm38) T57A probably benign Het
Prdm8 A G 5: 98,185,306 (GRCm38) E244G possibly damaging Het
Prl6a1 T C 13: 27,312,671 (GRCm38) S3P possibly damaging Het
Rab11fip3 T A 17: 26,016,143 (GRCm38) T18S probably damaging Het
Rfc4 T C 16: 23,122,254 (GRCm38) probably benign Het
Rubcnl G T 14: 75,042,337 (GRCm38) V387F possibly damaging Het
S100a7l2 A T 3: 91,090,295 (GRCm38) L38M possibly damaging Het
Serpinb12 T C 1: 106,956,421 (GRCm38) L299P probably damaging Het
Sptbn5 G A 2: 120,046,484 (GRCm38) probably benign Het
Taar4 A T 10: 23,961,283 (GRCm38) I264F possibly damaging Het
Tdpoz4 A T 3: 93,797,499 (GRCm38) T368S probably benign Het
Thsd7b T A 1: 129,595,833 (GRCm38) H124Q probably damaging Het
Ugt1a6a A T 1: 88,139,024 (GRCm38) Q184L probably benign Het
Vnn1 T A 10: 23,898,564 (GRCm38) F168L probably damaging Het
Zan A G 5: 137,470,408 (GRCm38) L267P probably damaging Het
Zswim8 A G 14: 20,722,286 (GRCm38) S1621G probably damaging Het
Other mutations in Atp1a1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8772:Atp1a1 UTSW 3 101,579,808 (GRCm38) missense probably benign
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'- CTGGGGTTCTGATTCACCAG -3'
(R):5'- ATCTTTGCTGTGGACCCAGG -3'

Sequencing Primer
(F):5'- ATTCACCAGTGAGTGAGGAGTTATCC -3'
(R):5'- CCAGGTAATTTGGGATACACGC -3'
Posted On 2016-10-05