Incidental Mutation 'IGL02738:Atp1a3'
ID305752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp1a3
Ensembl Gene ENSMUSG00000040907
Gene NameATPase, Na+/K+ transporting, alpha 3 polypeptide
SynonymsAtpa-2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02738
Quality Score
Status
Chromosome7
Chromosomal Location24978167-25005958 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 24990476 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 519 (D519V)
Ref Sequence ENSEMBL: ENSMUSP00000143735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080882] [ENSMUST00000102858] [ENSMUST00000196684]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080882
AA Change: D506V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
AA Change: D506V

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Cation_ATPase_N 32 106 2.41e-22 SMART
Pfam:E1-E2_ATPase 125 356 6.3e-64 PFAM
Pfam:Hydrolase 360 719 2.6e-32 PFAM
Pfam:HAD 363 716 4.7e-18 PFAM
Pfam:Hydrolase_like2 416 511 5.7e-26 PFAM
Pfam:Cation_ATPase_C 789 998 3.5e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102858
AA Change: D506V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
AA Change: D506V

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
Cation_ATPase_N 32 106 2.41e-22 SMART
Pfam:E1-E2_ATPase 124 355 4.6e-60 PFAM
Pfam:Hydrolase 360 719 5.7e-20 PFAM
Pfam:HAD 363 716 4.5e-19 PFAM
Pfam:Cation_ATPase 416 511 5.1e-25 PFAM
Pfam:Cation_ATPase_C 789 998 1.4e-46 PFAM
low complexity region 1030 1047 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184595
Predicted Effect possibly damaging
Transcript: ENSMUST00000196684
AA Change: D519V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
AA Change: D519V

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Cation_ATPase_N 45 119 1.9e-26 SMART
Pfam:E1-E2_ATPase 137 368 4e-58 PFAM
Pfam:Hydrolase 373 732 3.8e-18 PFAM
Pfam:HAD 376 729 3.8e-17 PFAM
Pfam:Cation_ATPase 429 524 5.2e-23 PFAM
Pfam:Cation_ATPase_C 802 1011 2.5e-44 PFAM
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 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display neonatal lethality. Heterozygous mice display hyperactivity, increased activity in responses to methamphetamine, and impaired spatial learning. Mice heterozygous for an ENU mutation exhibit convulsive and vestibular stress induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,624,872 probably benign Het
Akr1c21 A T 13: 4,580,301 N198Y probably damaging Het
Anapc11 A T 11: 120,599,276 K6I probably benign Het
Angel1 G A 12: 86,705,286 L554F probably benign Het
Arhgap11a A T 2: 113,832,975 *988K probably null Het
Arnt T A 3: 95,495,320 probably null Het
Bdp1 C A 13: 100,051,353 A1575S probably benign Het
Bglap G A 3: 88,384,408 T3I unknown Het
Brca2 C T 5: 150,567,035 P3054L probably damaging Het
Btn2a2 C A 13: 23,478,806 E316* probably null Het
C1qtnf9 C T 14: 60,779,939 T306I probably benign Het
Caprin2 T C 6: 148,842,862 T1022A probably damaging Het
Cd109 T C 9: 78,691,299 Y940H probably damaging Het
Cd300ld A G 11: 114,984,250 L186S probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A T 2: 160,965,698 S1865R probably benign Het
Chrna2 T C 14: 66,149,440 V345A probably benign Het
Dnah1 T G 14: 31,292,640 E1756A probably benign Het
Dnah3 C T 7: 119,965,497 A2637T probably benign Het
Ern2 A G 7: 122,182,899 F80S probably damaging Het
Ero1lb A G 13: 12,604,433 I439V possibly damaging Het
Eva1a T G 6: 82,071,230 S30A probably benign Het
Fam71d T A 12: 78,734,215 probably benign Het
Fer1l4 A G 2: 156,045,728 L516P probably benign Het
Hexim2 T C 11: 103,138,277 S52P probably damaging Het
Hoxb9 A T 11: 96,274,728 M208L possibly damaging Het
Lbr A G 1: 181,832,213 V139A probably benign Het
Lcn10 G A 2: 25,684,020 probably benign Het
Letm2 A G 8: 25,586,773 I271T probably damaging Het
Lrrc34 T C 3: 30,631,292 S303G possibly damaging Het
Matn2 C A 15: 34,388,739 A325D probably benign Het
Mboat4 T C 8: 34,115,104 L4P probably damaging Het
Mmp1a T A 9: 7,464,301 probably benign Het
Naip2 T A 13: 100,189,177 R74S probably benign Het
Neb G T 2: 52,243,850 Q3374K probably damaging Het
Nup210l A G 3: 90,136,850 E486G possibly damaging Het
Olfr1024 A G 2: 85,904,949 V35A probably benign Het
Olfr1301 A C 2: 111,754,354 Y35S probably damaging Het
Olfr142 A G 2: 90,252,355 I211T possibly damaging Het
Olfr816 A T 10: 129,911,331 probably benign Het
Pde8a A C 7: 81,326,342 N677H probably damaging Het
Plag1 G A 4: 3,903,812 Q460* probably null Het
Podnl1 A G 8: 84,132,195 T550A probably benign Het
Ptpn22 A G 3: 103,874,066 probably benign Het
Pycrl A T 15: 75,918,716 I98N probably damaging Het
Rtn4r A G 16: 18,151,188 Y160C probably damaging Het
Slc27a4 A G 2: 29,811,226 N343S probably benign Het
Slc2a4 A G 11: 69,946,114 Y43H probably damaging Het
Sorbs1 A T 19: 40,376,904 L145Q probably damaging Het
Speer2 A T 16: 69,861,712 S22T probably benign Het
Sugp2 G T 8: 70,243,799 G474V probably damaging Het
Syt3 C T 7: 44,386,023 S18L possibly damaging Het
Tacc1 T C 8: 25,201,143 E48G probably damaging Het
Tdrd6 A G 17: 43,620,446 V2083A probably benign Het
Thra A T 11: 98,764,359 H355L probably benign Het
Tmem35b C T 4: 127,126,188 Q34* probably null Het
Unk G T 11: 116,056,191 G537V probably damaging Het
Usp32 T A 11: 85,083,806 D92V probably damaging Het
Vmn1r209 G T 13: 22,806,120 Y133* probably null Het
Vmn1r42 A G 6: 89,844,648 V313A possibly damaging Het
Vnn1 A G 10: 23,904,622 I503V probably benign Het
Vwa2 G A 19: 56,897,929 G143R possibly damaging Het
Other mutations in Atp1a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02129:Atp1a3 APN 7 24997286 missense probably damaging 0.98
IGL02736:Atp1a3 APN 7 24980109 missense probably damaging 1.00
IGL02806:Atp1a3 APN 7 24981872 missense probably damaging 1.00
borah UTSW 7 24994569 missense probably damaging 1.00
clonic UTSW 7 24987985 missense probably benign 0.37
R0003:Atp1a3 UTSW 7 24989564 splice site probably benign
R0254:Atp1a3 UTSW 7 24981512 splice site probably benign
R0420:Atp1a3 UTSW 7 24980627 missense probably benign
R0437:Atp1a3 UTSW 7 24998967 missense probably benign 0.36
R0666:Atp1a3 UTSW 7 24990549 missense probably benign 0.01
R0932:Atp1a3 UTSW 7 24987976 critical splice donor site probably null
R1586:Atp1a3 UTSW 7 24979383 missense probably damaging 0.97
R1981:Atp1a3 UTSW 7 25000975 missense probably benign 0.19
R2105:Atp1a3 UTSW 7 24989853 missense probably damaging 1.00
R3076:Atp1a3 UTSW 7 24980073 missense possibly damaging 0.48
R3110:Atp1a3 UTSW 7 24994694 missense probably damaging 1.00
R3112:Atp1a3 UTSW 7 24994694 missense probably damaging 1.00
R4223:Atp1a3 UTSW 7 25000930 missense probably benign 0.09
R4327:Atp1a3 UTSW 7 24987631 intron probably benign
R4598:Atp1a3 UTSW 7 24979341 missense probably damaging 0.99
R4626:Atp1a3 UTSW 7 24998768 missense possibly damaging 0.75
R4789:Atp1a3 UTSW 7 24998964 missense probably damaging 1.00
R4963:Atp1a3 UTSW 7 24994626 missense probably damaging 0.97
R5243:Atp1a3 UTSW 7 24994569 missense probably damaging 1.00
R5294:Atp1a3 UTSW 7 24988048 missense probably damaging 0.98
R5668:Atp1a3 UTSW 7 24978869 intron probably benign
R5704:Atp1a3 UTSW 7 24997311 missense probably damaging 0.98
R5870:Atp1a3 UTSW 7 24997578 missense probably benign 0.03
R5934:Atp1a3 UTSW 7 24978874 intron probably benign
R6183:Atp1a3 UTSW 7 24981752 missense probably damaging 1.00
R6492:Atp1a3 UTSW 7 24979304 missense probably damaging 1.00
R6996:Atp1a3 UTSW 7 24997626 missense probably damaging 1.00
R7165:Atp1a3 UTSW 7 24978965 missense probably benign 0.13
R7229:Atp1a3 UTSW 7 24987985 missense probably benign 0.37
R7239:Atp1a3 UTSW 7 25000704 missense probably damaging 1.00
R7301:Atp1a3 UTSW 7 24990515 missense probably benign 0.00
R7330:Atp1a3 UTSW 7 25001152 nonsense probably null
R7348:Atp1a3 UTSW 7 24978826 missense unknown
R7432:Atp1a3 UTSW 7 25005875 unclassified probably benign
R7490:Atp1a3 UTSW 7 24987470 missense probably damaging 1.00
R7556:Atp1a3 UTSW 7 24981566 missense probably benign 0.02
R7860:Atp1a3 UTSW 7 24981791 missense probably damaging 1.00
R7861:Atp1a3 UTSW 7 25001148 missense unknown
R7943:Atp1a3 UTSW 7 24981791 missense probably damaging 1.00
R7944:Atp1a3 UTSW 7 25001148 missense unknown
R8002:Atp1a3 UTSW 7 25000671 missense probably damaging 1.00
R8010:Atp1a3 UTSW 7 24980645 missense possibly damaging 0.90
Z1176:Atp1a3 UTSW 7 24998688 missense probably benign 0.00
Z1177:Atp1a3 UTSW 7 24980119 missense probably benign 0.02
Posted On2015-04-16