Incidental Mutation 'R6145:Atp1a2'
ID 488785
Institutional Source Beutler Lab
Gene Symbol Atp1a2
Ensembl Gene ENSMUSG00000007097
Gene Name ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms Atpa-3
MMRRC Submission 044292-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6145 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 172099276-172125631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 172114805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 327 (V327I)
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: V327I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: V327I

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: V327I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: V327I

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 95.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T A 1: 85,980,664 (GRCm39) probably null Het
Abca8b A G 11: 109,864,634 (GRCm39) V316A probably benign Het
Acad10 A T 5: 121,760,096 (GRCm39) V999D probably damaging Het
Acot8 A G 2: 164,644,985 (GRCm39) V66A probably benign Het
Ankrd11 T C 8: 123,619,400 (GRCm39) H1484R probably damaging Het
Anxa6 A G 11: 54,885,730 (GRCm39) F405S probably damaging Het
Asmt G A X: 169,108,398 (GRCm39) V101I probably damaging Het
Brdt A G 5: 107,525,865 (GRCm39) E906G possibly damaging Het
Cacna1g A T 11: 94,353,087 (GRCm39) C313S probably damaging Het
Camk2d T C 3: 126,599,507 (GRCm39) I329T probably benign Het
Cavin4 A T 4: 48,663,794 (GRCm39) H58L probably damaging Het
Ccdc78 C A 17: 26,008,039 (GRCm39) P317T probably benign Het
Cdc16 T G 8: 13,817,573 (GRCm39) Y295D possibly damaging Het
Cdyl2 T A 8: 117,321,717 (GRCm39) N270I probably damaging Het
Cfap221 T A 1: 119,912,546 (GRCm39) I114F possibly damaging Het
Dmxl1 A G 18: 50,045,833 (GRCm39) E2414G possibly damaging Het
Dnaaf9 T C 2: 130,620,393 (GRCm39) I247V probably benign Het
Dnah1 C A 14: 31,022,927 (GRCm39) R1070L probably benign Het
Dnah14 T C 1: 181,493,982 (GRCm39) S1713P probably benign Het
Dock10 C A 1: 80,553,621 (GRCm39) G602* probably null Het
Ep400 A T 5: 110,904,569 (GRCm39) V10D possibly damaging Het
Epas1 T C 17: 87,136,857 (GRCm39) C807R probably benign Het
Esrrb C T 12: 86,552,673 (GRCm39) P200L probably benign Het
Fbxw26 T C 9: 109,561,691 (GRCm39) I168V probably benign Het
Fsip2 A T 2: 82,824,112 (GRCm39) H6615L possibly damaging Het
Galk2 A T 2: 125,788,762 (GRCm39) Q272L possibly damaging Het
Gas7 A C 11: 67,520,438 (GRCm39) T43P probably damaging Het
Gm5134 A T 10: 75,831,673 (GRCm39) I371F probably damaging Het
Gpr31b C T 17: 13,270,266 (GRCm39) R301Q possibly damaging Het
Grk1 T A 8: 13,455,765 (GRCm39) Y216* probably null Het
Grm5 T A 7: 87,675,809 (GRCm39) M441K probably damaging Het
Heatr6 A G 11: 83,656,962 (GRCm39) E408G probably damaging Het
Hoxc9 G T 15: 102,892,391 (GRCm39) K201N probably damaging Het
Igsf10 T A 3: 59,239,077 (GRCm39) Y368F possibly damaging Het
Il2ra A T 2: 11,685,057 (GRCm39) D131V probably damaging Het
Imp4 A G 1: 34,479,177 (GRCm39) E19G probably benign Het
Kcnk18 T C 19: 59,224,039 (GRCm39) *395Q probably null Het
Kdm6b A T 11: 69,295,852 (GRCm39) L805Q unknown Het
Lgr4 T A 2: 109,837,588 (GRCm39) L427* probably null Het
Myt1l G A 12: 29,882,380 (GRCm39) S525N unknown Het
Nasp G A 4: 116,468,274 (GRCm39) T237I probably benign Het
Nell2 G T 15: 95,371,442 (GRCm39) Q98K probably damaging Het
Nfasc C T 1: 132,562,455 (GRCm39) G107R probably damaging Het
Nsun4 A G 4: 115,897,403 (GRCm39) S203P probably damaging Het
Or1m1 T G 9: 18,666,865 (GRCm39) D22A probably benign Het
Or7g35 T C 9: 19,496,184 (GRCm39) V117A probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pde10a T C 17: 9,147,949 (GRCm39) V366A probably damaging Het
Pdxk T A 10: 78,279,625 (GRCm39) D250V probably benign Het
Pih1d1 T A 7: 44,808,468 (GRCm39) I179N probably damaging Het
Plaa T A 4: 94,472,229 (GRCm39) I294F probably damaging Het
Pmel C A 10: 128,551,804 (GRCm39) P213T probably damaging Het
Pom121l2 A T 13: 22,166,472 (GRCm39) R248* probably null Het
Pou2f1 T C 1: 165,703,002 (GRCm39) probably benign Het
Ppm1j G A 3: 104,688,695 (GRCm39) R98H probably damaging Het
Prkdc C T 16: 15,589,937 (GRCm39) P2600L probably damaging Het
Prom1 T C 5: 44,186,991 (GRCm39) N422S probably benign Het
Pspn C T 17: 57,306,467 (GRCm39) C154Y probably damaging Het
Ptdss1 T C 13: 67,120,701 (GRCm39) probably null Het
Rapgef1 A G 2: 29,626,678 (GRCm39) Y993C probably damaging Het
Scrn2 A C 11: 96,923,679 (GRCm39) T219P probably benign Het
Sec23ip T G 7: 128,380,208 (GRCm39) S874R probably damaging Het
Septin4 G A 11: 87,476,072 (GRCm39) probably null Het
Slc15a3 C T 19: 10,834,615 (GRCm39) L499F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sra1 A G 18: 36,800,628 (GRCm39) M193T probably damaging Het
Srsf4 G T 4: 131,627,605 (GRCm39) probably benign Het
Syne1 T C 10: 5,002,750 (GRCm39) D8055G probably damaging Het
Syne4 T A 7: 30,015,988 (GRCm39) probably null Het
Tbc1d24 C A 17: 24,427,203 (GRCm39) G253V probably damaging Het
Tbck T A 3: 132,437,976 (GRCm39) I467N probably damaging Het
Tln1 T A 4: 43,538,030 (GRCm39) M1857L possibly damaging Het
Ttll2 T C 17: 7,619,031 (GRCm39) R299G probably benign Het
Ugt2b36 T G 5: 87,214,072 (GRCm39) E524A probably benign Het
Vmn2r124 C T 17: 18,283,113 (GRCm39) T269I probably benign Het
Vmn2r4 A G 3: 64,314,364 (GRCm39) F206L probably benign Het
Zfp346 A G 13: 55,263,387 (GRCm39) K156R 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
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
R6018:Atp1a2 UTSW 1 172,125,579 (GRCm39) intron probably benign
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 PCR Primer
(F):5'- ATTGAATGCTCAGATACAGCTCAAC -3'
(R):5'- ATAGCCACTCTTGCCTCTGG -3'

Sequencing Primer
(F):5'- AGGCATGCCCTGAACAATTTCTG -3'
(R):5'- TCTGGCCTAGAGGTGGGAC -3'
Posted On 2017-10-10