Incidental Mutation 'R6271:Atp12a'
ID 507360
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 044379-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6271 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56615879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 547 (D547G)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect probably benign
Transcript: ENSMUST00000007340
AA Change: D547G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: D547G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G T 4: 132,792,035 (GRCm39) C1092F possibly damaging Het
Aplf T C 6: 87,623,230 (GRCm39) E304G possibly damaging Het
B3gat2 T C 1: 23,854,342 (GRCm39) L212P probably damaging Het
Babam2 G T 5: 32,158,706 (GRCm39) A219S probably damaging Het
Ccdc18 A C 5: 108,322,753 (GRCm39) S618R possibly damaging Het
Ces2c G A 8: 105,578,748 (GRCm39) G342D probably damaging Het
Cfap57 A C 4: 118,452,956 (GRCm39) D582E probably benign Het
Cisd2 T C 3: 135,114,627 (GRCm39) N115D possibly damaging Het
Cyp17a1 A G 19: 46,661,159 (GRCm39) F42L probably benign Het
Fam234a T C 17: 26,437,211 (GRCm39) D156G probably benign Het
Fer1l6 T A 15: 58,513,767 (GRCm39) I1554K probably benign Het
Fv1 A G 4: 147,954,474 (GRCm39) T347A possibly damaging Het
Gm5134 T A 10: 75,831,643 (GRCm39) C361S probably benign Het
Grin3a T C 4: 49,792,516 (GRCm39) I406V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Ifna13 A C 4: 88,562,082 (GRCm39) L181V possibly damaging Het
Irx4 A G 13: 73,414,713 (GRCm39) probably null Het
Kcna3 T A 3: 106,944,922 (GRCm39) M395K probably damaging Het
Kcnma1 A T 14: 23,559,957 (GRCm39) V347D probably damaging Het
Kng2 A T 16: 22,822,698 (GRCm39) V218E probably benign Het
Krt36 G A 11: 99,995,298 (GRCm39) Q167* probably null Het
Lama2 T C 10: 26,899,325 (GRCm39) D2457G possibly damaging Het
Ldah G A 12: 8,318,599 (GRCm39) probably null Het
Lhfpl3 G T 5: 22,951,242 (GRCm39) A18S probably benign Het
Lrrk1 A G 7: 65,956,851 (GRCm39) probably null Het
Ltv1 T C 10: 13,055,445 (GRCm39) Y352C probably damaging Het
Lyst G T 13: 13,833,339 (GRCm39) M1720I probably benign Het
Mkx A T 18: 6,937,059 (GRCm39) probably null Het
Myo18a A G 11: 77,711,635 (GRCm39) H626R probably damaging Het
Nop9 A C 14: 55,991,198 (GRCm39) Q618H probably damaging Het
Or12k5 T C 2: 36,895,554 (GRCm39) Q24R probably damaging Het
Or4c12b T C 2: 89,646,906 (GRCm39) S73P probably damaging Het
Or7g32 A G 9: 19,389,337 (GRCm39) S67P probably damaging Het
Or8c9 T C 9: 38,241,578 (GRCm39) S232P probably benign Het
Otog C A 7: 45,901,464 (GRCm39) Q388K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Oxct2b T G 4: 123,011,508 (GRCm39) V476G probably damaging Het
Parp10 T C 15: 76,126,202 (GRCm39) T329A probably benign Het
Pcdhga5 T C 18: 37,829,735 (GRCm39) S728P probably benign Het
Piezo1 G T 8: 123,221,671 (GRCm39) H574Q probably damaging Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Preb C A 5: 31,115,395 (GRCm39) V255F probably damaging Het
Prmt9 A G 8: 78,304,092 (GRCm39) N725S probably damaging Het
Ric1 A T 19: 29,544,765 (GRCm39) probably null Het
Semp2l1 T A 1: 32,584,572 (GRCm39) D446V probably damaging Het
Serinc3 G C 2: 163,472,896 (GRCm39) L245V probably benign Het
Sgce T C 6: 4,730,015 (GRCm39) K70E possibly damaging Het
Simc1 T G 13: 54,687,537 (GRCm39) V102G probably damaging Het
Slc66a3 T C 12: 17,047,704 (GRCm39) D76G probably damaging Het
Smyd2 A G 1: 189,616,049 (GRCm39) Y362H probably damaging Het
Sptbn1 G T 11: 30,050,660 (GRCm39) H2310N probably benign Het
Syne1 T C 10: 5,184,652 (GRCm39) Y4077C probably damaging Het
Syne2 C A 12: 75,937,155 (GRCm39) A251E probably damaging Het
Taok1 A T 11: 77,464,609 (GRCm39) L159Q probably damaging Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Timeless T C 10: 128,086,593 (GRCm39) L1043P probably damaging Het
Tmprss3 T C 17: 31,405,536 (GRCm39) E352G probably damaging Het
Trav6-4 A T 14: 53,692,039 (GRCm39) T46S probably benign Het
Ubiad1 A T 4: 148,521,083 (GRCm39) Y180* probably null Het
Usp47 A G 7: 111,686,263 (GRCm39) E627G probably damaging Het
Vmn2r124 A G 17: 18,283,145 (GRCm39) T280A probably benign 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
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
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'- GCTAACCTGCCCAATCCATG -3'
(R):5'- TGGAATCAACCCCATTCTCTTCAG -3'

Sequencing Primer
(F):5'- AATCCATGCCCTCCCAGCTC -3'
(R):5'- AGATTGAGCCCAGGACCTC -3'
Posted On 2018-03-15