Incidental Mutation 'IGL01382:Atp12a'
ID78884
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 #IGL01382
Quality Score
Status
Chromosome14
Chromosomal Location56365068-56388550 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 56379955 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tryptophan at position 567 (C567W)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
Predicted Effect probably damaging
Transcript: ENSMUST00000007340
AA Change: C567W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: C567W

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,472,251 R393L probably benign Het
Arhgap21 G T 2: 20,855,700 P1128T probably damaging Het
Bcat2 C A 7: 45,588,260 R312S probably damaging Het
Cacna1g T A 11: 94,465,858 T151S probably damaging Het
Chid1 G A 7: 141,530,253 T53M probably damaging Het
Dis3l2 A G 1: 86,857,203 D272G probably benign Het
Ephx4 A G 5: 107,429,719 E303G probably damaging Het
Fam189b T C 3: 89,188,426 S596P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm9843 A T 16: 76,403,572 noncoding transcript Het
Gnb1l T C 16: 18,544,200 F11S probably damaging Het
Ipmk C T 10: 71,376,766 T186M probably damaging Het
Jph1 T C 1: 17,016,156 T381A probably damaging Het
Kbtbd8 T A 6: 95,122,230 I163K probably damaging Het
Kif18a T A 2: 109,296,766 Y348* probably null Het
Lrrc37a T A 11: 103,498,755 D1948V probably damaging Het
Mc4r A G 18: 66,859,793 I83T probably damaging Het
Myh8 A T 11: 67,301,973 E1530V probably damaging Het
Naip6 C T 13: 100,299,856 E720K possibly damaging Het
Ncor2 T A 5: 125,055,773 Q50L probably damaging Het
Olfr1411 A G 1: 92,597,200 Y227C possibly damaging Het
Olfr495 G A 7: 108,395,245 V42M probably benign Het
Plxnd1 A T 6: 115,960,527 M1575K probably damaging Het
Ptprg T G 14: 12,237,797 M643R probably benign Het
Reck T A 4: 43,940,662 C824S probably damaging Het
Rpgrip1 C T 14: 52,145,477 T689I possibly damaging Het
Ruvbl2 A T 7: 45,422,737 S358T probably benign Het
Sec14l3 G T 11: 4,068,104 C128F probably damaging Het
Serpinf2 C T 11: 75,438,037 probably benign Het
Sez6l C T 5: 112,425,621 V842I probably benign Het
Tm6sf2 A G 8: 70,078,368 Y257C probably damaging Het
Tmpo T C 10: 91,166,050 D99G probably damaging Het
Tulp3 A C 6: 128,325,070 N329K probably damaging Het
Vmn1r7 T A 6: 57,024,723 D184V probably damaging Het
Vmn2r24 A G 6: 123,786,979 T272A possibly damaging Het
Vmn2r93 T A 17: 18,313,316 L494* probably null Het
Wdr18 T C 10: 79,965,272 L173P probably damaging Het
Zfp663 T A 2: 165,359,015 Y33F probably damaging Het
Zmiz2 T A 11: 6,403,781 probably null Het
Other mutations in Atp12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02876:Atp12a APN 14 56373289 missense probably benign 0.00
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 On2013-11-05