Incidental Mutation 'R6791:Atp12a'
ID 532610
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 044904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 56624439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect probably null
Transcript: ENSMUST00000007340
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229

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
Meta Mutation Damage Score 0.9493 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T 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
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
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'- AGAGAGGGTCAGGTTTCCAC -3'
(R):5'- ACGCAACGATGATCTGCGAG -3'

Sequencing Primer
(F):5'- GGTTTCCACCAGGGTCTTATTTGC -3'
(R):5'- ATGATCTGCGAGATGATCCCC -3'
Posted On 2018-08-29