Incidental Mutation 'R1639:Atp12a'
ID 173399
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 039675-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1639 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56621525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 720 (D720V)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect possibly damaging
Transcript: ENSMUST00000007340
AA Change: D720V

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: D720V

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 0.1276 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 96% (66/69)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 C A 2: 155,398,828 (GRCm39) T425N probably benign Het
Adam18 T A 8: 25,142,168 (GRCm39) I203L probably benign Het
Amigo2 A G 15: 97,143,879 (GRCm39) M181T probably benign Het
Anks1 T A 17: 28,277,280 (GRCm39) I1045N probably damaging Het
Ap3d1 C T 10: 80,565,844 (GRCm39) V108I probably damaging Het
Arl8a C T 1: 135,080,561 (GRCm39) R57* probably null Het
Brpf3 T C 17: 29,043,042 (GRCm39) probably null Het
C2 T C 17: 35,091,379 (GRCm39) K95E probably benign Het
Cdk19 T C 10: 40,352,965 (GRCm39) probably null Het
Cebpz T A 17: 79,242,035 (GRCm39) I540L possibly damaging Het
Cep128 A G 12: 91,333,142 (GRCm39) V41A probably damaging Het
Cog7 T C 7: 121,580,642 (GRCm39) E56G probably damaging Het
Cylc2 T C 4: 51,228,310 (GRCm39) V127A probably benign Het
Cyp2b23 A G 7: 26,385,842 (GRCm39) V5A possibly damaging Het
Cyp8b1 A G 9: 121,743,956 (GRCm39) Y459H probably benign Het
Dbpht2 A G 12: 74,345,932 (GRCm39) noncoding transcript Het
Ddx24 T C 12: 103,377,578 (GRCm39) probably null Het
Dgki C T 6: 36,914,299 (GRCm39) C757Y probably damaging Het
Eef2k T A 7: 120,485,051 (GRCm39) L306H probably damaging Het
Ephb2 T C 4: 136,421,216 (GRCm39) N378S probably benign Het
Espl1 C T 15: 102,229,149 (GRCm39) T1767I probably damaging Het
Fbn2 C A 18: 58,191,534 (GRCm39) A1530S probably benign Het
Fndc11 A G 2: 180,863,374 (GRCm39) S60G possibly damaging Het
Glb1l G T 1: 75,176,245 (GRCm39) Q612K probably benign Het
Gpsm1 A G 2: 26,235,199 (GRCm39) E371G probably damaging Het
Gtpbp2 G A 17: 46,476,697 (GRCm39) probably null Het
Itch A G 2: 155,020,945 (GRCm39) probably null Het
Itga2 T C 13: 114,993,832 (GRCm39) T774A probably benign Het
Kit A G 5: 75,813,467 (GRCm39) I881V probably damaging Het
Lpar5 T C 6: 125,058,564 (GRCm39) L95P probably damaging Het
Lrp6 T C 6: 134,430,529 (GRCm39) T1511A possibly damaging Het
Mgat4c T C 10: 102,214,142 (GRCm39) Y42H probably damaging Het
Mpp3 G T 11: 101,914,268 (GRCm39) T109K probably damaging Het
Msantd4 A G 9: 4,385,199 (GRCm39) E308G probably damaging Het
Mug1 T C 6: 121,857,530 (GRCm39) S1085P probably damaging Het
Myo5b A G 18: 74,840,987 (GRCm39) H956R probably benign Het
Ncoa7 A C 10: 30,577,988 (GRCm39) L132R probably damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Or4a81 T C 2: 89,619,589 (GRCm39) T36A probably damaging Het
Pkhd1l1 G A 15: 44,404,351 (GRCm39) V2327M probably damaging Het
Ppp1r9b T C 11: 94,887,436 (GRCm39) Y59H probably damaging Het
Sema4c A T 1: 36,592,615 (GRCm39) F152I probably benign Het
Slit2 A T 5: 48,416,996 (GRCm39) Y1016F probably damaging Het
Spata31d1c T A 13: 65,183,853 (GRCm39) V465D probably benign Het
Ssc5d T C 7: 4,931,416 (GRCm39) C208R probably damaging Het
Stambpl1 T G 19: 34,213,707 (GRCm39) V312G probably benign Het
Stim1 T A 7: 102,003,748 (GRCm39) D60E probably benign Het
Syt13 T A 2: 92,776,316 (GRCm39) V201D probably benign Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tex15 T C 8: 34,060,845 (GRCm39) S366P possibly damaging Het
Tex56 T C 13: 35,128,233 (GRCm39) I150T possibly damaging Het
Tpte G A 8: 22,810,913 (GRCm39) R190H probably benign Het
Vmn1r4 T C 6: 56,934,060 (GRCm39) V188A probably damaging Het
Vmn2r88 A G 14: 51,654,244 (GRCm39) D542G probably damaging Het
Vps33b T A 7: 79,934,101 (GRCm39) I257N probably damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zc3h11a G T 1: 133,552,446 (GRCm39) Q554K probably benign Het
Zfp947 T C 17: 22,365,074 (GRCm39) K200R probably benign Het
Zscan12 T A 13: 21,553,156 (GRCm39) C327S 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
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
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'- TGGAAGGCTGACTCCATGAAACAC -3'
(R):5'- CTTGCTTCTGGTCTCCCAGGAAAC -3'

Sequencing Primer
(F):5'- TCTTGGGAATAAGCACTGGAG -3'
(R):5'- CTGGCTACCAGGAAGATACTAC -3'
Posted On 2014-04-24