Incidental Mutation 'R5014:Atp1a2'
ID 385404
Institutional Source Beutler Lab
Gene Symbol Atp1a2
Ensembl Gene ENSMUSG00000007097
Gene Name ATPase, Na+/K+ transporting, alpha 2 polypeptide
Synonyms Atpa-3
MMRRC Submission 042605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5014 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 172099276-172125631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 172112438 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 517 (T517A)
Ref Sequence ENSEMBL: ENSMUSP00000095072 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085913] [ENSMUST00000097464] [ENSMUST00000139528]
AlphaFold Q6PIE5
Predicted Effect probably benign
Transcript: ENSMUST00000085913
AA Change: T517A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000083077
Gene: ENSMUSG00000007097
AA Change: T517A

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
AA Change: T517A

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000095072
Gene: ENSMUSG00000007097
AA Change: T517A

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
Meta Mutation Damage Score 0.0675 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.4%
  • 20x: 91.7%
Validation Efficiency 97% (83/86)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,896 (GRCm39) T1353A probably benign Het
Abca8b A T 11: 109,840,957 (GRCm39) I1072N probably damaging Het
Blk T G 14: 63,617,236 (GRCm39) N257T probably benign Het
Brd4 A T 17: 32,417,372 (GRCm39) probably benign Het
Calr4 C T 4: 109,092,994 (GRCm39) Q25* probably null Het
Cbl T C 9: 44,065,696 (GRCm39) probably null Het
Ccdc30 T G 4: 119,250,824 (GRCm39) H6P possibly damaging Het
Cd101 A C 3: 100,911,139 (GRCm39) Y840D probably damaging Het
Cd68 T A 11: 69,556,165 (GRCm39) N178Y probably damaging Het
Cep350 T C 1: 155,803,952 (GRCm39) T1044A probably benign Het
Cfap46 A G 7: 139,207,291 (GRCm39) V1876A probably benign Het
Clec2g T A 6: 128,925,765 (GRCm39) M58K probably benign Het
Clip1 T C 5: 123,755,793 (GRCm39) E860G probably damaging Het
Col18a1 C T 10: 76,906,794 (GRCm39) probably null Het
Cul7 A G 17: 46,966,868 (GRCm39) *650W probably null Het
Dkk4 C T 8: 23,115,315 (GRCm39) A55V probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dnai7 T C 6: 145,128,992 (GRCm39) E407G probably damaging Het
Dnase1 C A 16: 3,856,880 (GRCm39) Y170* probably null Het
Dnmt1 A C 9: 20,823,550 (GRCm39) I1019S probably benign Het
Epha6 T A 16: 59,486,942 (GRCm39) H1035L probably benign Het
Fam124b T C 1: 80,177,776 (GRCm39) T408A probably benign Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Galnt7 T C 8: 57,998,414 (GRCm39) E305G probably damaging Het
Garin1b C T 6: 29,326,723 (GRCm39) probably benign Het
Git1 T A 11: 77,389,821 (GRCm39) V28E probably damaging Het
Gm10010 C T 6: 128,177,556 (GRCm39) noncoding transcript Het
Gm4956 T C 1: 21,363,821 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,193,506 (GRCm39) V349G probably benign Het
Gtsf1l C T 2: 162,929,112 (GRCm39) V124I probably damaging Het
Gucy1b1 C G 3: 81,953,974 (GRCm39) G114A probably benign Het
Hk2 T C 6: 82,720,936 (GRCm39) Q166R possibly damaging Het
Hook2 A G 8: 85,718,006 (GRCm39) I44M probably damaging Het
Ildr1 T A 16: 36,541,921 (GRCm39) M222K probably damaging Het
Ints6 A T 14: 62,997,640 (GRCm39) F55Y probably benign Het
Kcnh1 A G 1: 191,959,388 (GRCm39) N314S probably damaging Het
Lpin3 T C 2: 160,746,748 (GRCm39) F748L probably damaging Het
Lrsam1 T C 2: 32,826,407 (GRCm39) probably benign Het
Msh2 A T 17: 88,025,004 (GRCm39) K627N possibly damaging Het
Myrip A G 9: 120,251,534 (GRCm39) Q219R probably damaging Het
Ndufb3 T A 1: 58,630,401 (GRCm39) W51R probably damaging Het
Nfasc A T 1: 132,512,185 (GRCm39) probably benign Het
Or2c1 T A 16: 3,656,912 (GRCm39) I25N probably benign Het
Or2h2 T A 17: 37,396,446 (GRCm39) I204F probably benign Het
Or8s8 T C 15: 98,354,857 (GRCm39) V222A possibly damaging Het
P3h3 T A 6: 124,832,199 (GRCm39) E229V probably damaging Het
Ppfia2 T A 10: 106,701,224 (GRCm39) L837* probably null Het
Ppp2r1a G A 17: 21,179,101 (GRCm39) probably null Het
Rabgap1 T A 2: 37,377,152 (GRCm39) V328E probably damaging Het
Ralgapb G A 2: 158,337,455 (GRCm39) R1138Q probably damaging Het
Ranbp2 A T 10: 58,299,942 (GRCm39) Q498L probably benign Het
Rbx1 T A 15: 81,355,161 (GRCm39) C56S probably damaging Het
Rcan2 T C 17: 44,328,704 (GRCm39) F45S probably damaging Het
Rgs20 T C 1: 4,980,770 (GRCm39) Y185C probably damaging Het
Rorc T G 3: 94,298,460 (GRCm39) L315R probably damaging Het
Skic2 A G 17: 35,066,401 (GRCm39) V194A probably benign Het
Slc13a2 T C 11: 78,290,987 (GRCm39) K406E possibly damaging Het
Slc35g3 T A 11: 69,651,866 (GRCm39) K62* probably null Het
Sox30 T C 11: 45,882,736 (GRCm39) S589P probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Ssh2 T A 11: 77,346,102 (GRCm39) C1362* probably null Het
Tecta C T 9: 42,284,538 (GRCm39) C849Y probably damaging Het
Thbs1 T A 2: 117,950,518 (GRCm39) probably null Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tut4 T C 4: 108,384,043 (GRCm39) probably benign Het
Tyk2 C T 9: 21,027,126 (GRCm39) probably null Het
Tyw5 C A 1: 57,446,004 (GRCm39) probably benign Het
Vcp T C 4: 42,980,828 (GRCm39) T761A probably benign Het
Wdfy4 A T 14: 32,822,897 (GRCm39) C1401S probably benign Het
Wiz T C 17: 32,578,340 (GRCm39) N391D probably damaging Het
Ylpm1 G A 12: 85,061,523 (GRCm39) E475K unknown Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp184 A G 13: 22,142,594 (GRCm39) D100G probably benign Het
Zfp990 T A 4: 145,264,669 (GRCm39) C556S possibly damaging Het
Zkscan16 C T 4: 58,951,892 (GRCm39) P189L 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
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
Predicted Primers PCR Primer
(F):5'- AAGGCAGGTTCAGCTGACAG -3'
(R):5'- TTTCCTTCTAAACAGCTGCTATCAG -3'

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