Incidental Mutation 'R6018:Atp1a2'
ID 478690
Institutional Source Beutler Lab
Gene Symbol Atp1a2
Ensembl Gene ENSMUSG00000007097
Gene Name ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms Atpa-3
MMRRC Submission 044192-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6018 (G1)
Quality Score 110.008
Status Not validated
Chromosome 1
Chromosomal Location 172099276-172125631 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 172125579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085913] [ENSMUST00000097464] [ENSMUST00000139528]
AlphaFold Q6PIE5
Predicted Effect probably benign
Transcript: ENSMUST00000085913
SMART Domains Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Cation_ATPase_N 40 114 5.28e-19 SMART
Pfam:E1-E2_ATPase 132 363 2.5e-59 PFAM
Pfam:Hydrolase 368 726 4.5e-19 PFAM
Pfam:HAD 371 723 3.2e-18 PFAM
Pfam:Cation_ATPase 424 518 1.9e-25 PFAM
Pfam:Cation_ATPase_C 796 1005 1.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097464
SMART Domains Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Cation_ATPase_N 40 114 5.28e-19 SMART
Pfam:E1-E2_ATPase 133 364 1.9e-63 PFAM
Pfam:Hydrolase 368 726 2e-32 PFAM
Pfam:HAD 371 723 1.7e-15 PFAM
Pfam:Hydrolase_like2 424 518 1.3e-26 PFAM
Pfam:Cation_ATPase_C 796 947 3.2e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137679
SMART Domains Protein: ENSMUSP00000117873
Gene: ENSMUSG00000007097

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Cation_ATPase_N 40 114 5.28e-19 SMART
Pfam:E1-E2_ATPase 133 364 1.2e-63 PFAM
Pfam:Hydrolase 368 613 8.5e-9 PFAM
Pfam:Hydrolase_like2 424 518 5.7e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139528
SMART Domains Protein: ENSMUSP00000134280
Gene: ENSMUSG00000038034

DomainStartEndE-ValueType
IG_like 19 84 3.66e1 SMART
low complexity region 92 103 N/A INTRINSIC
IG 106 222 2.3e-3 SMART
IG 246 370 9.49e-5 SMART
IG 382 508 3.59e-5 SMART
transmembrane domain 515 537 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.6%
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 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutants die immediately after birth from breathing failure, lack spontaneous respiratory rhythm activity, have elevated levels of extracellular GABA in the brain, and have abnormal chloride homeostasis in brainstem neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,448 (GRCm39) Y155N probably damaging Het
1700019A02Rik C T 1: 53,202,405 (GRCm39) probably null Het
2310022B05Rik A G 8: 125,365,853 (GRCm39) F297L probably benign Het
Acbd3 T C 1: 180,579,903 (GRCm39) S516P possibly damaging Het
Agbl3 A G 6: 34,776,190 (GRCm39) N227S probably damaging Het
Ak6 C T 13: 100,802,459 (GRCm39) Q151* probably null Het
Ano4 A G 10: 88,865,128 (GRCm39) L297P probably benign Het
Anxa5 T C 3: 36,504,807 (GRCm39) T252A probably benign Het
Ap5s1 G A 2: 131,054,915 (GRCm39) W212* probably null Het
Arl9 A G 5: 77,155,253 (GRCm39) Q113R probably damaging Het
Atg2b T C 12: 105,627,430 (GRCm39) H519R probably damaging Het
Atp2b1 G A 10: 98,846,622 (GRCm39) A808T probably damaging Het
Bckdhb C A 9: 83,951,237 (GRCm39) T342K probably benign Het
Bdp1 T C 13: 100,174,732 (GRCm39) H1996R probably benign Het
Brix1 C T 15: 10,476,675 (GRCm39) R267H probably benign Het
Ccdc180 A G 4: 45,926,235 (GRCm39) I1148M probably damaging Het
Csf3r T A 4: 125,937,414 (GRCm39) M766K probably benign Het
Ctnnd1 T A 2: 84,480,812 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,436 (GRCm39) N41I probably damaging Het
D2hgdh G T 1: 93,754,182 (GRCm39) V52L probably benign Het
Dppa4 T A 16: 48,109,490 (GRCm39) Y77* probably null Het
Eif4enif1 T C 11: 3,192,481 (GRCm39) S770P probably damaging Het
Fbxl16 A T 17: 26,036,709 (GRCm39) D230V probably damaging Het
Gm4847 G A 1: 166,471,017 (GRCm39) A11V probably damaging Het
Gm9978 C T 10: 78,322,915 (GRCm39) noncoding transcript Het
Gpatch8 A G 11: 102,371,741 (GRCm39) L599P unknown Het
Hdac4 A G 1: 91,886,120 (GRCm39) L254P probably damaging Het
Heatr1 A G 13: 12,419,828 (GRCm39) I384V probably benign Het
Heatr1 A T 13: 12,420,939 (GRCm39) Q410L probably benign Het
Hmcn2 A G 2: 31,260,804 (GRCm39) I1065V probably benign Het
Igkv6-14 A G 6: 70,412,024 (GRCm39) S87P probably damaging Het
Il2rb G T 15: 78,366,266 (GRCm39) Q344K possibly damaging Het
Ipo4 A G 14: 55,863,609 (GRCm39) probably null Het
Ipo9 A G 1: 135,318,274 (GRCm39) probably null Het
Khdrbs1 T C 4: 129,613,887 (GRCm39) T374A probably benign Het
Lamc3 G T 2: 31,795,724 (GRCm39) G370W probably damaging Het
Lipn T A 19: 34,054,335 (GRCm39) L191Q probably damaging Het
Lpl T C 8: 69,353,940 (GRCm39) V427A probably benign Het
Magi3 T C 3: 104,013,128 (GRCm39) S120G probably damaging Het
Mgl2 T C 11: 70,027,937 (GRCm39) *382Q probably null Het
Nab2 G A 10: 127,500,793 (GRCm39) Q100* probably null Het
Nfat5 T A 8: 108,082,283 (GRCm39) probably null Het
Nqo1 T C 8: 108,115,500 (GRCm39) H259R probably damaging Het
Nrdc T A 4: 108,870,944 (GRCm39) D190E probably benign Het
Or5m5 T A 2: 85,815,148 (GRCm39) probably benign Het
Osmr G A 15: 6,845,276 (GRCm39) P830L probably damaging Het
Parp14 G A 16: 35,661,827 (GRCm39) P1403S probably benign Het
Pde11a T A 2: 75,848,194 (GRCm39) M878L probably benign Het
Pik3ap1 T C 19: 41,373,455 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,441,916 (GRCm39) L360P probably damaging Het
Plxnc1 A G 10: 94,779,710 (GRCm39) V244A probably benign Het
Pramel16 C T 4: 143,677,469 (GRCm39) A37T possibly damaging Het
Ptpra T C 2: 130,345,422 (GRCm39) V8A probably benign Het
Rbbp5 T C 1: 132,422,078 (GRCm39) V199A probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rp1 A G 1: 4,423,059 (GRCm39) V7A possibly damaging Het
Sdk2 T C 11: 113,720,889 (GRCm39) T1347A probably benign Het
Sgo2a T A 1: 58,056,118 (GRCm39) H767Q probably benign Het
Sis G A 3: 72,820,525 (GRCm39) P1413L possibly damaging Het
Slc22a5 G T 11: 53,766,846 (GRCm39) A214E probably damaging Het
Snx13 G T 12: 35,097,318 (GRCm39) probably benign Het
Sun5 T A 2: 153,700,363 (GRCm39) I295F probably damaging Het
Themis3 C T 17: 66,900,204 (GRCm39) A55T probably damaging Het
Tmem255b T C 8: 13,505,138 (GRCm39) Y148H probably benign Het
Tmem74b A G 2: 151,548,639 (GRCm39) E122G probably damaging Het
Top3b T C 16: 16,710,756 (GRCm39) V862A probably damaging Het
Trim35 A T 14: 66,546,199 (GRCm39) D322V probably damaging Het
Trpm2 A G 10: 77,753,547 (GRCm39) F1319S probably benign Het
Ttn T A 2: 76,785,020 (GRCm39) R756S probably benign Het
Vmn2r108 A T 17: 20,683,268 (GRCm39) N645K possibly damaging Het
Vmn2r73 A G 7: 85,521,875 (GRCm39) S155P possibly damaging Het
Vstm4 G A 14: 32,585,627 (GRCm39) A65T probably benign Het
Other mutations in Atp1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Atp1a2 APN 1 172,103,569 (GRCm39) missense probably damaging 1.00
IGL00954:Atp1a2 APN 1 172,118,201 (GRCm39) missense probably damaging 1.00
IGL01083:Atp1a2 APN 1 172,112,186 (GRCm39) missense probably benign
IGL01372:Atp1a2 APN 1 172,106,510 (GRCm39) missense probably damaging 1.00
IGL01762:Atp1a2 APN 1 172,112,480 (GRCm39) missense possibly damaging 0.89
IGL01896:Atp1a2 APN 1 172,113,578 (GRCm39) missense probably damaging 1.00
IGL01942:Atp1a2 APN 1 172,113,876 (GRCm39) missense probably benign 0.35
IGL01944:Atp1a2 APN 1 172,103,754 (GRCm39) missense probably damaging 0.98
IGL02219:Atp1a2 APN 1 172,107,298 (GRCm39) nonsense probably null
IGL02219:Atp1a2 APN 1 172,107,285 (GRCm39) missense probably damaging 1.00
IGL02304:Atp1a2 APN 1 172,116,920 (GRCm39) missense probably benign
IGL02507:Atp1a2 APN 1 172,113,338 (GRCm39) missense probably damaging 1.00
IGL02557:Atp1a2 APN 1 172,106,218 (GRCm39) missense possibly damaging 0.83
IGL02632:Atp1a2 APN 1 172,108,181 (GRCm39) missense possibly damaging 0.89
IGL03053:Atp1a2 APN 1 172,105,923 (GRCm39) missense probably damaging 1.00
IGL03104:Atp1a2 APN 1 172,120,934 (GRCm39) missense probably damaging 0.97
IGL03161:Atp1a2 APN 1 172,106,429 (GRCm39) intron probably benign
IGL03218:Atp1a2 APN 1 172,116,870 (GRCm39) missense probably null 0.82
PIT4151001:Atp1a2 UTSW 1 172,118,288 (GRCm39) missense probably damaging 0.99
PIT4520001:Atp1a2 UTSW 1 172,106,941 (GRCm39) missense probably benign 0.00
R0121:Atp1a2 UTSW 1 172,116,909 (GRCm39) missense probably damaging 0.99
R0630:Atp1a2 UTSW 1 172,118,842 (GRCm39) missense possibly damaging 0.78
R0682:Atp1a2 UTSW 1 172,112,164 (GRCm39) missense probably benign 0.00
R0755:Atp1a2 UTSW 1 172,116,948 (GRCm39) missense probably benign 0.37
R1413:Atp1a2 UTSW 1 172,106,911 (GRCm39) missense probably damaging 1.00
R1680:Atp1a2 UTSW 1 172,106,521 (GRCm39) missense probably damaging 0.99
R2094:Atp1a2 UTSW 1 172,115,000 (GRCm39) missense probably damaging 1.00
R3714:Atp1a2 UTSW 1 172,106,551 (GRCm39) missense probably damaging 0.96
R4573:Atp1a2 UTSW 1 172,106,204 (GRCm39) missense possibly damaging 0.75
R4928:Atp1a2 UTSW 1 172,105,954 (GRCm39) missense possibly damaging 0.93
R4953:Atp1a2 UTSW 1 172,119,009 (GRCm39) intron probably benign
R5014:Atp1a2 UTSW 1 172,112,438 (GRCm39) missense probably benign 0.05
R5080:Atp1a2 UTSW 1 172,112,012 (GRCm39) intron probably benign
R5129:Atp1a2 UTSW 1 172,103,522 (GRCm39) missense probably benign 0.02
R5360:Atp1a2 UTSW 1 172,106,436 (GRCm39) critical splice donor site probably null
R5619:Atp1a2 UTSW 1 172,106,948 (GRCm39) missense probably damaging 0.99
R5622:Atp1a2 UTSW 1 172,118,994 (GRCm39) intron probably benign
R5718:Atp1a2 UTSW 1 172,107,009 (GRCm39) missense probably damaging 1.00
R5729:Atp1a2 UTSW 1 172,120,938 (GRCm39) missense probably damaging 0.99
R5909:Atp1a2 UTSW 1 172,114,797 (GRCm39) missense probably damaging 1.00
R6145:Atp1a2 UTSW 1 172,114,805 (GRCm39) missense probably damaging 1.00
R6164:Atp1a2 UTSW 1 172,106,459 (GRCm39) missense probably damaging 0.97
R6315:Atp1a2 UTSW 1 172,116,903 (GRCm39) missense probably damaging 0.99
R6317:Atp1a2 UTSW 1 172,116,903 (GRCm39) missense probably damaging 0.99
R6319:Atp1a2 UTSW 1 172,116,903 (GRCm39) missense probably damaging 0.99
R6323:Atp1a2 UTSW 1 172,116,903 (GRCm39) missense probably damaging 0.99
R6324:Atp1a2 UTSW 1 172,116,903 (GRCm39) missense probably damaging 0.99
R6374:Atp1a2 UTSW 1 172,116,942 (GRCm39) missense probably damaging 1.00
R6764:Atp1a2 UTSW 1 172,112,181 (GRCm39) missense probably benign
R6812:Atp1a2 UTSW 1 172,112,444 (GRCm39) missense probably benign 0.20
R7025:Atp1a2 UTSW 1 172,112,117 (GRCm39) nonsense probably null
R7194:Atp1a2 UTSW 1 172,108,194 (GRCm39) nonsense probably null
R7459:Atp1a2 UTSW 1 172,114,862 (GRCm39) missense probably benign 0.00
R7791:Atp1a2 UTSW 1 172,103,782 (GRCm39) missense probably benign 0.28
R7889:Atp1a2 UTSW 1 172,105,631 (GRCm39) splice site probably null
R7993:Atp1a2 UTSW 1 172,118,878 (GRCm39) missense possibly damaging 0.86
R8183:Atp1a2 UTSW 1 172,116,918 (GRCm39) missense probably damaging 0.96
R8434:Atp1a2 UTSW 1 172,112,179 (GRCm39) missense probably benign 0.01
R8712:Atp1a2 UTSW 1 172,103,547 (GRCm39) missense probably benign 0.05
R8724:Atp1a2 UTSW 1 172,106,945 (GRCm39) missense probably benign 0.13
R8887:Atp1a2 UTSW 1 172,113,222 (GRCm39) missense probably null 0.02
R8965:Atp1a2 UTSW 1 172,107,612 (GRCm39) missense probably benign 0.25
R9322:Atp1a2 UTSW 1 172,107,625 (GRCm39) missense possibly damaging 0.94
R9383:Atp1a2 UTSW 1 172,107,334 (GRCm39) missense probably benign
R9451:Atp1a2 UTSW 1 172,103,494 (GRCm39) missense probably benign
R9485:Atp1a2 UTSW 1 172,105,822 (GRCm39) makesense probably null
R9727:Atp1a2 UTSW 1 172,118,936 (GRCm39) missense probably benign 0.01
Z1176:Atp1a2 UTSW 1 172,107,321 (GRCm39) missense possibly damaging 0.90
Z1177:Atp1a2 UTSW 1 172,114,903 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-06-26