Incidental Mutation 'IGL01382:Atp12a'
ID 78884
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp12a
Ensembl Gene ENSMUSG00000022229
Gene Name ATPase, H+/K+ transporting, nongastric, alpha polypeptide
Synonyms cHKA, Atp1al1, HKalpha2, ATPase H+K+-transporting, alpha 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01382
Quality Score
Status
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 56617412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tryptophan at position 567 (C567W)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
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: 142,458,006 (GRCm39) R393L probably benign Het
Arhgap21 G T 2: 20,860,511 (GRCm39) P1128T probably damaging Het
Bcat2 C A 7: 45,237,684 (GRCm39) R312S probably damaging Het
Cacna1g T A 11: 94,356,684 (GRCm39) T151S probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Dis3l2 A G 1: 86,784,925 (GRCm39) D272G probably benign Het
Entrep3 T C 3: 89,095,733 (GRCm39) S596P probably damaging Het
Ephx4 A G 5: 107,577,585 (GRCm39) E303G probably damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Gm9843 A T 16: 76,200,460 (GRCm39) noncoding transcript Het
Gnb1l T C 16: 18,362,950 (GRCm39) F11S probably damaging Het
Ipmk C T 10: 71,212,596 (GRCm39) T186M probably damaging Het
Jph1 T C 1: 17,086,380 (GRCm39) T381A probably damaging Het
Kbtbd8 T A 6: 95,099,211 (GRCm39) I163K probably damaging Het
Kif18a T A 2: 109,127,111 (GRCm39) Y348* probably null Het
Lrrc37a T A 11: 103,389,581 (GRCm39) D1948V probably damaging Het
Mc4r A G 18: 66,992,864 (GRCm39) I83T probably damaging Het
Myh8 A T 11: 67,192,799 (GRCm39) E1530V probably damaging Het
Naip6 C T 13: 100,436,364 (GRCm39) E720K possibly damaging Het
Ncor2 T A 5: 125,132,837 (GRCm39) Q50L probably damaging Het
Or5p70 G A 7: 107,994,452 (GRCm39) V42M probably benign Het
Or9s15 A G 1: 92,524,922 (GRCm39) Y227C possibly damaging Het
Plxnd1 A T 6: 115,937,488 (GRCm39) M1575K probably damaging Het
Ptprg T G 14: 12,237,797 (GRCm38) M643R probably benign Het
Reck T A 4: 43,940,662 (GRCm39) C824S probably damaging Het
Rpgrip1 C T 14: 52,382,934 (GRCm39) T689I possibly damaging Het
Ruvbl2 A T 7: 45,072,161 (GRCm39) S358T probably benign Het
Sec14l3 G T 11: 4,018,104 (GRCm39) C128F probably damaging Het
Serpinf2 C T 11: 75,328,863 (GRCm39) probably benign Het
Sez6l C T 5: 112,573,487 (GRCm39) V842I probably benign Het
Tm6sf2 A G 8: 70,531,018 (GRCm39) Y257C probably damaging Het
Tmpo T C 10: 91,001,912 (GRCm39) D99G probably damaging Het
Tulp3 A C 6: 128,302,033 (GRCm39) N329K probably damaging Het
Vmn1r7 T A 6: 57,001,708 (GRCm39) D184V probably damaging Het
Vmn2r24 A G 6: 123,763,938 (GRCm39) T272A possibly damaging Het
Vmn2r93 T A 17: 18,533,578 (GRCm39) L494* probably null Het
Wdr18 T C 10: 79,801,106 (GRCm39) L173P probably damaging Het
Zfp663 T A 2: 165,200,935 (GRCm39) Y33F probably damaging Het
Zmiz2 T A 11: 6,353,781 (GRCm39) probably null Het
Other mutations in Atp12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Atp12a APN 14 56,621,525 (GRCm39) missense possibly damaging 0.95
IGL02176:Atp12a APN 14 56,624,636 (GRCm39) missense probably damaging 1.00
IGL02210:Atp12a APN 14 56,609,201 (GRCm39) nonsense probably null
IGL02828:Atp12a APN 14 56,613,599 (GRCm39) missense possibly damaging 0.72
IGL02868:Atp12a APN 14 56,621,639 (GRCm39) missense probably damaging 1.00
IGL02876:Atp12a APN 14 56,610,746 (GRCm39) missense probably benign 0.00
R0045:Atp12a UTSW 14 56,610,330 (GRCm39) missense probably damaging 1.00
R0172:Atp12a UTSW 14 56,610,301 (GRCm39) missense probably damaging 1.00
R0276:Atp12a UTSW 14 56,625,151 (GRCm39) missense probably damaging 1.00
R0613:Atp12a UTSW 14 56,611,978 (GRCm39) missense probably damaging 1.00
R0656:Atp12a UTSW 14 56,611,938 (GRCm39) missense probably damaging 1.00
R0962:Atp12a UTSW 14 56,605,870 (GRCm39) missense probably damaging 1.00
R1067:Atp12a UTSW 14 56,610,893 (GRCm39) missense probably damaging 1.00
R1448:Atp12a UTSW 14 56,623,296 (GRCm39) missense probably damaging 1.00
R1503:Atp12a UTSW 14 56,610,881 (GRCm39) missense probably damaging 1.00
R1590:Atp12a UTSW 14 56,617,512 (GRCm39) missense probably damaging 1.00
R1639:Atp12a UTSW 14 56,621,525 (GRCm39) missense possibly damaging 0.95
R1660:Atp12a UTSW 14 56,608,305 (GRCm39) missense probably benign 0.21
R1696:Atp12a UTSW 14 56,603,545 (GRCm39) missense probably damaging 1.00
R1775:Atp12a UTSW 14 56,610,046 (GRCm39) missense probably benign 0.23
R1920:Atp12a UTSW 14 56,624,308 (GRCm39) missense probably benign 0.19
R2022:Atp12a UTSW 14 56,602,739 (GRCm39) start codon destroyed probably null
R2071:Atp12a UTSW 14 56,603,466 (GRCm39) missense probably benign
R2253:Atp12a UTSW 14 56,613,715 (GRCm39) missense probably benign 0.03
R2289:Atp12a UTSW 14 56,610,719 (GRCm39) missense possibly damaging 0.93
R2567:Atp12a UTSW 14 56,624,384 (GRCm39) missense probably damaging 1.00
R2870:Atp12a UTSW 14 56,624,407 (GRCm39) missense possibly damaging 0.94
R2870:Atp12a UTSW 14 56,624,407 (GRCm39) missense possibly damaging 0.94
R2872:Atp12a UTSW 14 56,624,407 (GRCm39) missense possibly damaging 0.94
R2872:Atp12a UTSW 14 56,624,407 (GRCm39) missense possibly damaging 0.94
R2873:Atp12a UTSW 14 56,624,407 (GRCm39) missense possibly damaging 0.94
R2923:Atp12a UTSW 14 56,612,079 (GRCm39) missense probably benign
R3736:Atp12a UTSW 14 56,611,884 (GRCm39) missense possibly damaging 0.90
R3754:Atp12a UTSW 14 56,610,045 (GRCm39) missense probably benign 0.01
R5028:Atp12a UTSW 14 56,624,435 (GRCm39) missense probably damaging 0.96
R5267:Atp12a UTSW 14 56,621,668 (GRCm39) missense probably damaging 1.00
R5481:Atp12a UTSW 14 56,610,846 (GRCm39) missense possibly damaging 0.90
R5590:Atp12a UTSW 14 56,610,837 (GRCm39) missense probably benign 0.11
R5842:Atp12a UTSW 14 56,615,747 (GRCm39) missense probably damaging 0.96
R5899:Atp12a UTSW 14 56,610,801 (GRCm39) missense probably benign 0.44
R5985:Atp12a UTSW 14 56,621,798 (GRCm39) missense probably damaging 1.00
R6044:Atp12a UTSW 14 56,613,612 (GRCm39) missense probably damaging 1.00
R6271:Atp12a UTSW 14 56,615,879 (GRCm39) missense probably benign 0.00
R6454:Atp12a UTSW 14 56,608,290 (GRCm39) missense probably benign 0.02
R6461:Atp12a UTSW 14 56,610,695 (GRCm39) missense probably damaging 1.00
R6610:Atp12a UTSW 14 56,612,013 (GRCm39) missense probably damaging 1.00
R6666:Atp12a UTSW 14 56,610,821 (GRCm39) missense probably benign 0.36
R6667:Atp12a UTSW 14 56,621,645 (GRCm39) missense possibly damaging 0.82
R6677:Atp12a UTSW 14 56,618,311 (GRCm39) missense probably damaging 1.00
R6791:Atp12a UTSW 14 56,624,439 (GRCm39) critical splice donor site probably null
R7003:Atp12a UTSW 14 56,610,837 (GRCm39) missense possibly damaging 0.87
R7173:Atp12a UTSW 14 56,621,837 (GRCm39) missense probably damaging 1.00
R7523:Atp12a UTSW 14 56,603,425 (GRCm39) missense possibly damaging 0.85
R8063:Atp12a UTSW 14 56,603,545 (GRCm39) missense probably damaging 1.00
R8376:Atp12a UTSW 14 56,612,083 (GRCm39) critical splice donor site probably null
R8670:Atp12a UTSW 14 56,617,546 (GRCm39) missense probably damaging 1.00
X0004:Atp12a UTSW 14 56,615,924 (GRCm39) missense probably benign 0.16
Z1088:Atp12a UTSW 14 56,623,598 (GRCm39) missense probably benign 0.19
Z1176:Atp12a UTSW 14 56,610,163 (GRCm39) missense probably damaging 1.00
Z1177:Atp12a UTSW 14 56,610,672 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05