Incidental Mutation 'IGL02876:Atp12a'
ID406238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp12a
Ensembl Gene ENSMUSG00000022229
Gene NameATPase, H+/K+ transporting, nongastric, alpha polypeptide
SynonymscHKA, ATPase H+K+-transporting, alpha 2, Atp1al1, HKalpha2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02876
Quality Score
Status
Chromosome14
Chromosomal Location56365068-56388550 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56373289 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 297 (I297V)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
Predicted Effect probably benign
Transcript: ENSMUST00000007340
AA Change: I297V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: I297V

DomainStartEndE-ValueType
low complexity region 22 36 N/A INTRINSIC
Cation_ATPase_N 54 128 9.27e-15 SMART
Pfam:E1-E2_ATPase 145 376 9.8e-57 PFAM
Pfam:Hydrolase 381 740 7.8e-20 PFAM
Pfam:HAD 384 737 7.6e-19 PFAM
Pfam:Cation_ATPase 437 532 3.4e-26 PFAM
Pfam:Cation_ATPase_C 810 1020 9.9e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225698
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. This gene encodes a catalytic subunit of the ouabain-sensitive H+/K+ -ATPase that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for potassium absorption in various tissues. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutation of this gene results in increased potassium excretion. When placed on a potassium-free diet, mutant animals display greater weight loss and slightly increased kidney weight compared to wild-type. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,919,841 V564A probably damaging Het
Adamts15 A T 9: 30,904,522 N679K probably damaging Het
Angpt1 T G 15: 42,426,977 D497A possibly damaging Het
Asap2 A G 12: 21,258,163 K849R probably benign Het
Aspm T C 1: 139,473,653 V1137A probably damaging Het
Atp2a2 A G 5: 122,466,008 V454A probably benign Het
Carmil1 T A 13: 24,154,668 probably benign Het
Csmd2 A T 4: 128,321,335 K517* probably null Het
Csmd3 A T 15: 47,606,096 probably benign Het
Cyp2d11 T A 15: 82,389,496 Q427L possibly damaging Het
Eml5 C T 12: 98,858,841 V706M probably damaging Het
Entpd8 A C 2: 25,085,060 S428R probably benign Het
Gm10283 T C 8: 60,501,219 probably benign Het
Gm13124 A G 4: 144,555,773 Y150H probably damaging Het
Gpatch3 T A 4: 133,580,684 V363E probably damaging Het
Hoxb5 T A 11: 96,303,768 M52K probably damaging Het
Ift52 T C 2: 163,036,707 V307A probably benign Het
Igkv1-115 T C 6: 68,161,440 noncoding transcript Het
Kdm5a T C 6: 120,390,644 probably benign Het
Lama1 T A 17: 67,750,692 probably null Het
Lrp6 G A 6: 134,456,114 P1418L probably benign Het
Mill2 T C 7: 18,856,507 F156L probably damaging Het
Mnat1 A G 12: 73,170,604 R85G probably damaging Het
Myrip A T 9: 120,432,674 D451V probably damaging Het
Olfr397 A T 11: 73,964,713 Y35F possibly damaging Het
Pdzph1 C A 17: 58,974,069 S406I probably benign Het
Ptprb A G 10: 116,348,211 probably benign Het
Rxfp4 T A 3: 88,652,435 R236S possibly damaging Het
Ryr2 T C 13: 11,707,793 M2604V probably benign Het
Setd1a G A 7: 127,778,501 probably benign Het
Spata33 A T 8: 123,221,980 H88L probably damaging Het
Spcs3 A T 8: 54,526,451 N98K probably damaging Het
Srgap3 A G 6: 112,771,453 S413P probably damaging Het
Stap2 T C 17: 55,999,961 R239G probably benign Het
Surf6 A G 2: 26,892,626 Y230H probably damaging Het
Tasp1 C T 2: 139,834,363 V382M probably benign Het
Tnc G T 4: 64,015,101 A642E possibly damaging Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r110 T A 17: 20,574,296 T704S probably damaging Het
Vtcn1 A T 3: 100,883,829 D61V probably damaging Het
Zc3h12d G A 10: 7,862,600 M223I probably damaging Het
Zfp592 T A 7: 81,038,127 S934T probably benign Het
Other mutations in Atp12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Atp12a APN 14 56379955 missense probably damaging 1.00
IGL02108:Atp12a APN 14 56384068 missense possibly damaging 0.95
IGL02176:Atp12a APN 14 56387179 missense probably damaging 1.00
IGL02210:Atp12a APN 14 56371744 nonsense probably null
IGL02828:Atp12a APN 14 56376142 missense possibly damaging 0.72
IGL02868:Atp12a APN 14 56384182 missense probably damaging 1.00
R0045:Atp12a UTSW 14 56372873 missense probably damaging 1.00
R0172:Atp12a UTSW 14 56372844 missense probably damaging 1.00
R0276:Atp12a UTSW 14 56387694 missense probably damaging 1.00
R0613:Atp12a UTSW 14 56374521 missense probably damaging 1.00
R0656:Atp12a UTSW 14 56374481 missense probably damaging 1.00
R0962:Atp12a UTSW 14 56368413 missense probably damaging 1.00
R1067:Atp12a UTSW 14 56373436 missense probably damaging 1.00
R1448:Atp12a UTSW 14 56385839 missense probably damaging 1.00
R1503:Atp12a UTSW 14 56373424 missense probably damaging 1.00
R1590:Atp12a UTSW 14 56380055 missense probably damaging 1.00
R1639:Atp12a UTSW 14 56384068 missense possibly damaging 0.95
R1660:Atp12a UTSW 14 56370848 missense probably benign 0.21
R1696:Atp12a UTSW 14 56366088 missense probably damaging 1.00
R1775:Atp12a UTSW 14 56372589 missense probably benign 0.23
R1920:Atp12a UTSW 14 56386851 missense probably benign 0.19
R2022:Atp12a UTSW 14 56365282 start codon destroyed probably null
R2071:Atp12a UTSW 14 56366009 missense probably benign
R2253:Atp12a UTSW 14 56376258 missense probably benign 0.03
R2289:Atp12a UTSW 14 56373262 missense possibly damaging 0.93
R2567:Atp12a UTSW 14 56386927 missense probably damaging 1.00
R2870:Atp12a UTSW 14 56386950 missense possibly damaging 0.94
R2870:Atp12a UTSW 14 56386950 missense possibly damaging 0.94
R2872:Atp12a UTSW 14 56386950 missense possibly damaging 0.94
R2872:Atp12a UTSW 14 56386950 missense possibly damaging 0.94
R2873:Atp12a UTSW 14 56386950 missense possibly damaging 0.94
R2923:Atp12a UTSW 14 56374622 missense probably benign
R3736:Atp12a UTSW 14 56374427 missense possibly damaging 0.90
R3754:Atp12a UTSW 14 56372588 missense probably benign 0.01
R5028:Atp12a UTSW 14 56386978 missense probably damaging 0.96
R5267:Atp12a UTSW 14 56384211 missense probably damaging 1.00
R5481:Atp12a UTSW 14 56373389 missense possibly damaging 0.90
R5590:Atp12a UTSW 14 56373380 missense probably benign 0.11
R5842:Atp12a UTSW 14 56378290 missense probably damaging 0.96
R5899:Atp12a UTSW 14 56373344 missense probably benign 0.44
R5985:Atp12a UTSW 14 56384341 missense probably damaging 1.00
R6044:Atp12a UTSW 14 56376155 missense probably damaging 1.00
R6271:Atp12a UTSW 14 56378422 missense probably benign 0.00
R6454:Atp12a UTSW 14 56370833 missense probably benign 0.02
R6461:Atp12a UTSW 14 56373238 missense probably damaging 1.00
R6610:Atp12a UTSW 14 56374556 missense probably damaging 1.00
R6666:Atp12a UTSW 14 56373364 missense probably benign 0.36
R6667:Atp12a UTSW 14 56384188 missense possibly damaging 0.82
R6677:Atp12a UTSW 14 56380854 missense probably damaging 1.00
R6791:Atp12a UTSW 14 56386982 critical splice donor site probably null
R7003:Atp12a UTSW 14 56373380 missense possibly damaging 0.87
R7173:Atp12a UTSW 14 56384380 missense probably damaging 1.00
X0004:Atp12a UTSW 14 56378467 missense probably benign 0.16
Z1088:Atp12a UTSW 14 56386141 missense probably benign 0.19
Posted On2016-08-02