Incidental Mutation 'IGL01896:Atp1a2'
ID 179397
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1a2
Ensembl Gene ENSMUSG00000007097
Gene Name ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms Atpa-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01896
Quality Score
Status
Chromosome 1
Chromosomal Location 172099276-172125631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 172113578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 427 (N427Y)
Ref Sequence ENSEMBL: ENSMUSP00000095072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085913] [ENSMUST00000097464] [ENSMUST00000139528]
AlphaFold Q6PIE5
Predicted Effect probably damaging
Transcript: ENSMUST00000085913
AA Change: N427Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: N427Y

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 damaging
Transcript: ENSMUST00000097464
AA Change: N427Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: N427Y

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155363
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,101,154 (GRCm39) F509Y possibly damaging Het
Acot11 T A 4: 106,628,564 (GRCm39) I75F probably damaging Het
Cd19 T C 7: 126,013,522 (GRCm39) D89G possibly damaging Het
Clca3a1 T A 3: 144,721,438 (GRCm39) T378S possibly damaging Het
Cltc A T 11: 86,615,959 (GRCm39) C436S probably damaging Het
Def8 G A 8: 124,186,634 (GRCm39) V429M probably benign Het
Dnah9 A T 11: 66,021,492 (GRCm39) D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 (GRCm39) K396R possibly damaging Het
Eif4b T C 15: 102,003,721 (GRCm39) S597P probably benign Het
Ezh1 A T 11: 101,104,581 (GRCm39) N155K probably benign Het
Glud1 A G 14: 34,041,862 (GRCm39) S157G probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5600 T C 7: 113,307,221 (GRCm39) noncoding transcript Het
Hnf4g T A 3: 3,716,470 (GRCm39) V298E probably damaging Het
Hspd1 C T 1: 55,118,268 (GRCm39) R446Q probably benign Het
Lyst A G 13: 13,810,162 (GRCm39) I611V probably benign Het
Map4k3 T C 17: 80,921,360 (GRCm39) E524G probably benign Het
Mepe A G 5: 104,486,135 (GRCm39) D425G possibly damaging Het
Myo1a G T 10: 127,555,773 (GRCm39) V921L probably benign Het
Plxdc1 A T 11: 97,815,408 (GRCm39) M470K probably damaging Het
Prim1 A G 10: 127,858,758 (GRCm39) Y222C probably damaging Het
Ptpn13 A G 5: 103,649,389 (GRCm39) N264S possibly damaging Het
Qrsl1 T C 10: 43,752,500 (GRCm39) D441G probably benign Het
Samd9l G T 6: 3,375,120 (GRCm39) Q714K probably benign Het
Scrib T C 15: 75,937,967 (GRCm39) E293G possibly damaging Het
Slc12a2 T A 18: 58,029,380 (GRCm39) N255K probably benign Het
Slc6a6 T C 6: 91,703,050 (GRCm39) I141T probably damaging Het
Slc9a1 T C 4: 133,145,370 (GRCm39) L485P probably damaging Het
Slfn8 A T 11: 82,894,522 (GRCm39) Y706N probably damaging Het
Tlr5 T C 1: 182,802,444 (GRCm39) F583L possibly damaging Het
Tmprss15 A G 16: 78,887,678 (GRCm39) V43A probably benign Het
Ttc24 T C 3: 87,977,720 (GRCm39) probably null Het
Ttc7 A G 17: 87,666,552 (GRCm39) T606A probably damaging Het
Ubap2 G T 4: 41,202,362 (GRCm39) P689T possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wfdc8 A T 2: 164,447,700 (GRCm39) M120K probably damaging 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
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
R6018:Atp1a2 UTSW 1 172,125,579 (GRCm39) intron probably benign
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
Posted On 2014-05-07