Incidental Mutation 'R0045:Atp12a'
ID 32781
Institutional Source Beutler Lab
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
MMRRC Submission 038339-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0045 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56610330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 234 (E234K)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect probably damaging
Transcript: ENSMUST00000007340
AA Change: E234K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: E234K

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
Meta Mutation Damage Score 0.3949 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.1%
Validation Efficiency 100% (75/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,220,148 (GRCm39) N299S probably damaging Het
Abi3 A G 11: 95,723,541 (GRCm39) *368R probably null Het
Agbl1 T C 7: 76,348,588 (GRCm39) probably null Het
Ap3b2 T C 7: 81,115,941 (GRCm39) D650G possibly damaging Het
Arhgap30 A G 1: 171,235,998 (GRCm39) S791G probably benign Het
Arvcf T A 16: 18,222,208 (GRCm39) L722Q probably benign Het
Ascc3 C T 10: 50,594,498 (GRCm39) R1198* probably null Het
Atf2 G T 2: 73,660,200 (GRCm39) T189N probably benign Het
Atf7ip A G 6: 136,536,814 (GRCm39) K16E probably damaging Het
Atg9b G T 5: 24,592,396 (GRCm39) Q621K probably damaging Het
C8a T C 4: 104,684,012 (GRCm39) K368E probably benign Het
Ccdc168 T C 1: 44,096,365 (GRCm39) K1578E probably benign Het
Cdh23 T C 10: 60,366,757 (GRCm39) Y241C probably damaging Het
Cdon G A 9: 35,398,103 (GRCm39) S940N probably benign Het
Cds2 G T 2: 132,147,075 (GRCm39) G402V possibly damaging Het
Cog6 T C 3: 52,900,171 (GRCm39) probably null Het
Commd10 T C 18: 47,100,903 (GRCm39) S114P possibly damaging Het
Dram2 T C 3: 106,478,133 (GRCm39) V155A possibly damaging Het
Egr2 T A 10: 67,376,310 (GRCm39) V252E probably benign Het
Exoc3l C T 8: 106,020,317 (GRCm39) V203M probably damaging Het
Fsip1 C A 2: 118,078,773 (GRCm39) probably null Het
Gm10840 C A 11: 106,051,926 (GRCm39) probably benign Het
Gpr37l1 A G 1: 135,088,883 (GRCm39) L394P probably damaging Het
Gsap T C 5: 21,431,830 (GRCm39) M243T possibly damaging Het
Hsd3b5 T A 3: 98,526,460 (GRCm39) I329F probably benign Het
Htra1 T A 7: 130,563,262 (GRCm39) S164R probably damaging Het
Il17b G A 18: 61,823,315 (GRCm39) V50M probably damaging Het
Itga4 A T 2: 79,131,375 (GRCm39) Y581F probably damaging Het
Jmjd8 A G 17: 26,048,255 (GRCm39) E92G probably damaging Het
Kcnq4 T A 4: 120,555,152 (GRCm39) D677V probably damaging Het
Klhl42 A G 6: 146,993,666 (GRCm39) T213A probably benign Het
Lcn5 T C 2: 25,550,710 (GRCm39) S133P probably damaging Het
Liph T C 16: 21,786,803 (GRCm39) Y271C probably damaging Het
Lpcat3 T C 6: 124,678,437 (GRCm39) I228T probably benign Het
Lrrd1 A G 5: 3,916,418 (GRCm39) K812E possibly damaging Het
Ltbp2 T C 12: 84,860,062 (GRCm39) T631A probably damaging Het
Ltbp2 G A 12: 84,856,361 (GRCm39) T701I probably damaging Het
Mavs G A 2: 131,080,751 (GRCm39) R13Q probably damaging Het
Mtor C G 4: 148,549,406 (GRCm39) H597D probably benign Het
Muc5b T A 7: 141,410,555 (GRCm39) H1309Q unknown Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Nnat A T 2: 157,402,408 (GRCm39) probably benign Het
Or14c40 T C 7: 86,313,548 (GRCm39) L226S possibly damaging Het
Or2ag19 T A 7: 106,444,596 (GRCm39) Y259* probably null Het
Or5h17 G A 16: 58,820,854 (GRCm39) D269N probably benign Het
Or7e175 A T 9: 20,048,487 (GRCm39) Q25L probably benign Het
Pclo C T 5: 14,589,485 (GRCm39) A595V unknown Het
Pcsk6 T A 7: 65,612,676 (GRCm39) C315S probably damaging Het
Pkd2 T A 5: 104,603,671 (GRCm39) probably benign Het
Ppp2r3c T A 12: 55,340,606 (GRCm39) I155F probably damaging Het
Rapgef4 A G 2: 72,029,122 (GRCm39) H398R possibly damaging Het
Ripor2 A G 13: 24,878,209 (GRCm39) D328G probably damaging Het
Rpgrip1 A T 14: 52,378,601 (GRCm39) T509S possibly damaging Het
Sh3pxd2a A G 19: 47,255,622 (GRCm39) I1032T probably damaging Het
Slc25a13 A T 6: 6,109,277 (GRCm39) S362T probably benign Het
Stk35 A T 2: 129,642,488 (GRCm39) R10* probably null Het
Tal1 A G 4: 114,925,762 (GRCm39) D277G probably damaging Het
Tecta G A 9: 42,286,487 (GRCm39) T723I probably damaging Het
Trp53bp1 A C 2: 121,034,978 (GRCm39) V103G probably benign Het
Trpv4 A G 5: 114,774,518 (GRCm39) S189P probably benign Het
Ttll5 T G 12: 85,926,133 (GRCm39) probably benign Het
Usp8 A G 2: 126,584,143 (GRCm39) T451A probably benign Het
Vac14 G A 8: 111,363,584 (GRCm39) D340N probably benign Het
Vars1 C A 17: 35,217,042 (GRCm39) A471S probably benign Het
Vars1 A T 17: 35,229,595 (GRCm39) H404L probably damaging Het
Vmn2r70 T C 7: 85,215,252 (GRCm39) N94S probably damaging Het
Vpreb1b T C 16: 17,798,631 (GRCm39) L39P probably damaging Het
Vps13a A T 19: 16,618,174 (GRCm39) L693* probably null Het
Wapl A G 14: 34,455,751 (GRCm39) I176V probably benign Het
Wdr31 G T 4: 62,382,270 (GRCm39) L4I possibly damaging Het
Other mutations in Atp12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Atp12a APN 14 56,617,412 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCAAGGACATCTTCCTCCAGGAGAC -3'
(R):5'- TGACAATGCCAGTTGCCGTACC -3'

Sequencing Primer
(F):5'- TTCCTCCAGGAGACTGCTG -3'
(R):5'- TTACCTTCCAGGCACGTTGT -3'
Posted On 2013-05-09