Incidental Mutation 'R2022:Atp12a'
ID 224209
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 040031-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2022 (G1)
Quality Score 151
Status Not validated
Chromosome 14
Chromosomal Location 56602525-56626007 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 56602739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000007340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007340]
AlphaFold Q9Z1W8
Predicted Effect probably null
Transcript: ENSMUST00000007340
AA Change: M1K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007340
Gene: ENSMUSG00000022229
AA Change: M1K

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,954 (GRCm39) C423* probably null Het
Akr1cl T A 1: 65,053,857 (GRCm39) Y271F probably benign Het
Asnsd1 A G 1: 53,386,386 (GRCm39) S414P possibly damaging Het
Atp4b A C 8: 13,437,477 (GRCm39) N225K possibly damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Cactin C T 10: 81,158,727 (GRCm39) T231I possibly damaging Het
Casp8ap2 T C 4: 32,644,560 (GRCm39) V1211A probably benign Het
Ccdc180 C A 4: 45,944,418 (GRCm39) H1423N probably benign Het
Cfap251 G A 5: 123,411,853 (GRCm39) G495D probably benign Het
Chd9 T C 8: 91,761,682 (GRCm39) Y2256H probably benign Het
Chst8 A G 7: 34,374,589 (GRCm39) Y417H possibly damaging Het
Clcn6 A G 4: 148,095,109 (GRCm39) probably null Het
Clec5a A T 6: 40,562,128 (GRCm39) V12E probably damaging Het
Crebbp C T 16: 3,903,683 (GRCm39) R1852H probably damaging Het
Cyp2c40 T A 19: 39,801,224 (GRCm39) probably benign Het
Dip2c T C 13: 9,601,836 (GRCm39) L265P probably damaging Het
Dnah3 A G 7: 119,550,465 (GRCm39) Y3274H probably damaging Het
Dnah6 T A 6: 73,004,405 (GRCm39) T3853S probably benign Het
Dnttip2 T C 3: 122,069,870 (GRCm39) S362P probably damaging Het
Dst G A 1: 34,205,372 (GRCm39) V1025I possibly damaging Het
Dym T C 18: 75,213,321 (GRCm39) V181A probably benign Het
Dynlt4 A G 4: 116,985,504 (GRCm39) E109G possibly damaging Het
Elk3 T A 10: 93,101,539 (GRCm39) I71F probably damaging Het
Epb41l4a C T 18: 34,054,893 (GRCm39) S65N probably benign Het
Erap1 T A 13: 74,814,627 (GRCm39) V451E probably benign Het
F830045P16Rik T A 2: 129,314,585 (GRCm39) I231F probably damaging Het
Fahd1 T C 17: 25,068,814 (GRCm39) I88V probably benign Het
Fam120b C T 17: 15,644,638 (GRCm39) T744I possibly damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Frem1 G T 4: 82,831,795 (GRCm39) T1988K probably benign Het
Gdap1l1 A T 2: 163,289,517 (GRCm39) T161S probably benign Het
Gm6309 C T 5: 146,105,121 (GRCm39) G264D probably benign Het
Hsd11b1 T C 1: 192,922,686 (GRCm39) T124A probably benign Het
Ino80b A G 6: 83,101,353 (GRCm39) M119T probably damaging Het
Kif3a G A 11: 53,461,408 (GRCm39) V17M probably damaging Het
Krt40 T A 11: 99,430,818 (GRCm39) E285D probably damaging Het
Lair1 C G 7: 4,066,063 (GRCm39) probably null Het
Lvrn A G 18: 46,999,503 (GRCm39) T290A possibly damaging Het
Macf1 G T 4: 123,366,523 (GRCm39) A2746E probably damaging Het
Matn4 A G 2: 164,242,573 (GRCm39) V175A probably damaging Het
Mok A T 12: 110,778,257 (GRCm39) D216E probably benign Het
Muc15 A T 2: 110,561,821 (GRCm39) T86S probably benign Het
Myo16 A G 8: 10,322,633 (GRCm39) K21R probably benign Het
Ncl A G 1: 86,284,677 (GRCm39) probably null Het
Nfrkb C T 9: 31,322,546 (GRCm39) T872I probably benign Het
Nhlrc2 A T 19: 56,585,710 (GRCm39) E648D probably benign Het
Nlrp9c A T 7: 26,084,221 (GRCm39) Y453N probably damaging Het
Notch4 T C 17: 34,806,502 (GRCm39) L1813P probably damaging Het
Nrg3 T A 14: 38,098,309 (GRCm39) D515V probably damaging Het
Nsd1 T C 13: 55,361,092 (GRCm39) V20A probably damaging Het
Opn4 T A 14: 34,319,028 (GRCm39) T186S probably benign Het
Or9k2 T C 10: 129,999,049 (GRCm39) M49V probably benign Het
Pcdh15 T G 10: 74,467,025 (GRCm39) S1684A possibly damaging Het
Phf11a T A 14: 59,532,363 (GRCm39) E24V possibly damaging Het
Pigg A T 5: 108,460,788 (GRCm39) probably benign Het
Plscr2 A G 9: 92,177,647 (GRCm39) D136G probably damaging Het
Ppp3r2 T C 4: 49,681,723 (GRCm39) I76V probably benign Het
Prdm6 A G 18: 53,598,031 (GRCm39) probably benign Het
Prex1 A G 2: 166,417,534 (GRCm39) W1188R possibly damaging Het
Prmt2 T A 10: 76,061,292 (GRCm39) R65* probably null Het
Prom1 G T 5: 44,187,068 (GRCm39) D396E probably benign Het
Ptcd3 C T 6: 71,862,537 (GRCm39) C466Y probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Rab36 T C 10: 74,888,306 (GRCm39) I250T probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Serpinb3d A G 1: 107,006,182 (GRCm39) V302A probably benign Het
Slc22a16 T C 10: 40,467,873 (GRCm39) Y469H probably damaging Het
Smo A G 6: 29,754,715 (GRCm39) N262D possibly damaging Het
Spata31e5 A T 1: 28,817,234 (GRCm39) V266D probably damaging Het
Sptan1 C T 2: 29,897,573 (GRCm39) A1212V probably damaging Het
Ssr1 C T 13: 38,173,525 (GRCm39) A79T probably damaging Het
Tiam1 T A 16: 89,674,075 (GRCm39) T479S probably benign Het
Tm9sf3 A G 19: 41,227,231 (GRCm39) F280S probably damaging Het
Tmem72 T C 6: 116,673,800 (GRCm39) H106R probably damaging Het
Tnr A G 1: 159,679,592 (GRCm39) I189V probably benign Het
Tpbpa T A 13: 61,088,036 (GRCm39) N50I probably benign Het
Tshz1 T A 18: 84,031,987 (GRCm39) Y807F probably damaging Het
Tspo2 C T 17: 48,755,750 (GRCm39) A131T possibly damaging Het
Usp16 T C 16: 87,270,014 (GRCm39) L322P probably damaging Het
Vmn1r185 A G 7: 26,310,935 (GRCm39) V190A possibly damaging Het
Vmn1r34 T C 6: 66,614,385 (GRCm39) K118E possibly damaging Het
Vmn1r68 A G 7: 10,261,918 (GRCm39) L60P probably damaging Het
Vmn2r-ps158 A G 7: 42,673,454 (GRCm39) N171D probably benign Het
Vps51 T C 19: 6,121,612 (GRCm39) E162G probably benign Het
Yy1 CGGG CGGGGGG 12: 108,759,916 (GRCm39) probably benign Het
Zdhhc4 C T 5: 143,307,538 (GRCm39) R161H probably damaging Het
Zfp456 A T 13: 67,514,616 (GRCm39) C363* probably null Het
Zfp541 T A 7: 15,816,110 (GRCm39) S866T 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
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
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'- AACATCGTCGCTGTCACCAC -3'
(R):5'- CAACTCTGAGGACCCTTCTTGC -3'

Sequencing Primer
(F):5'- TCGCTGTCACCACTCAGG -3'
(R):5'- TGAGGACCCTTCTTGCACAAC -3'
Posted On 2014-08-25