Incidental Mutation 'R1067:Atp12a'
ID 86063
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 039153-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1067 (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 56610893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 346 (G346S)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect probably damaging
Transcript: ENSMUST00000007340
AA Change: G346S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: G346S

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 0.9112 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,957,018 (GRCm39) probably benign Het
Adam24 T A 8: 41,133,793 (GRCm39) C420* probably null Het
Bpifa3 A T 2: 153,979,529 (GRCm39) Q218L probably damaging Het
Cntrl T C 2: 35,039,034 (GRCm39) probably benign Het
Defb41 A G 1: 18,335,248 (GRCm39) probably null Het
Edc4 C A 8: 106,617,637 (GRCm39) T1094K probably damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
G3bp2 A T 5: 92,211,187 (GRCm39) probably benign Het
Herc6 T A 6: 57,639,204 (GRCm39) N888K probably damaging Het
Iqgap1 G A 7: 80,373,576 (GRCm39) T1471M probably benign Het
Kpna6 G T 4: 129,541,896 (GRCm39) H500Q probably benign Het
Krt78 G A 15: 101,854,896 (GRCm39) Q972* probably null Het
Krtap9-5 T A 11: 99,839,589 (GRCm39) C97S unknown Het
Mapk10 T A 5: 103,139,723 (GRCm39) probably benign Het
Mybphl A G 3: 108,272,319 (GRCm39) T3A probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Oca2 A G 7: 55,966,141 (GRCm39) I378V probably damaging Het
Or7a39 T A 10: 78,715,517 (GRCm39) C170* probably null Het
Pax6 C A 2: 105,510,646 (GRCm39) Q2K probably benign Het
Plxna2 C A 1: 194,462,818 (GRCm39) probably null Het
Ppp1r13b A G 12: 111,801,550 (GRCm39) L378P probably damaging Het
Prkdc G A 16: 15,570,646 (GRCm39) E2310K probably damaging Het
Pth2r G A 1: 65,411,507 (GRCm39) G348E possibly damaging Het
Rarb T C 14: 16,436,769 (GRCm38) I251V probably damaging Het
Rasa2 A G 9: 96,434,376 (GRCm39) L637P probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Syt1 A T 10: 108,472,523 (GRCm39) D120E probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmbim1 A G 1: 74,329,905 (GRCm39) probably benign Het
Tnfrsf25 G A 4: 152,202,745 (GRCm39) C191Y probably damaging Het
Tnn T C 1: 159,952,968 (GRCm39) K691E probably damaging Het
Trim7 T A 11: 48,728,646 (GRCm39) V98E probably damaging Het
Tspan3 A G 9: 56,068,104 (GRCm39) F15L probably benign Het
Uap1l1 A G 2: 25,252,759 (GRCm39) L427S probably damaging Het
Upf1 A C 8: 70,791,053 (GRCm39) M574R probably damaging Het
Ush2a T A 1: 188,282,404 (GRCm39) V1931E probably benign Het
Zfp3 T C 11: 70,663,411 (GRCm39) S457P probably 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
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
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'- AACTGGCATTGTCATCAACACGGG -3'
(R):5'- TTGACCAAGGACTGAGTTAGGTGGGC -3'

Sequencing Primer
(F):5'- TTGTCATCAACACGGGTGACC -3'
(R):5'- GTGAACTAACCTAGATCTCCTGAG -3'
Posted On 2013-11-18