Incidental Mutation 'R7969:Kcnj12'
ID 650514
Institutional Source Beutler Lab
Gene Symbol Kcnj12
Ensembl Gene ENSMUSG00000042529
Gene Name potassium inwardly-rectifying channel, subfamily J, member 12
Synonyms Kir2.2, IRK2, MB-IRK2
MMRRC Submission 046012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7969 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 60913390-60961957 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 60960430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 243 (Q243*)
Ref Sequence ENSEMBL: ENSMUSP00000041696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041944] [ENSMUST00000089184] [ENSMUST00000108717]
AlphaFold P52187
Predicted Effect probably null
Transcript: ENSMUST00000041944
AA Change: Q243*
SMART Domains Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: Q243*

Pfam:IRK_N 104 148 1.3e-27 PFAM
Pfam:IRK 149 476 2.5e-159 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000089184
AA Change: Q141*
SMART Domains Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: Q141*

Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000108717
AA Change: Q141*
SMART Domains Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: Q141*

Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahcyl2 T A 6: 29,870,663 (GRCm39) I193N probably damaging Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Cacna1s T G 1: 136,004,470 (GRCm39) F337C probably damaging Het
Cep85l T C 10: 53,174,280 (GRCm39) I488V probably damaging Het
Cmas T A 6: 142,720,892 (GRCm39) D375E probably damaging Het
Cnga4 T C 7: 105,055,253 (GRCm39) F279S probably damaging Het
Cyp4f37 T C 17: 32,844,181 (GRCm39) V95A probably benign Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dlg2 T C 7: 92,066,466 (GRCm39) F235S probably benign Het
Dmxl2 T C 9: 54,354,165 (GRCm39) D427G possibly damaging Het
Efl1 T C 7: 82,342,178 (GRCm39) Y529H probably benign Het
Epx C T 11: 87,763,547 (GRCm39) M224I probably benign Het
Fetub A G 16: 22,748,449 (GRCm39) R101G possibly damaging Het
Fubp1 T A 3: 151,927,883 (GRCm39) probably null Het
Impdh2 C T 9: 108,439,505 (GRCm39) R153* probably null Het
Lrrn1 T A 6: 107,544,811 (GRCm39) V203E probably damaging Het
Meikin T C 11: 54,300,536 (GRCm39) S338P possibly damaging Het
Myl10 A T 5: 136,729,707 (GRCm39) probably null Het
Nt5c3b T C 11: 100,325,567 (GRCm39) K120E possibly damaging Het
Or10al2 T A 17: 37,983,547 (GRCm39) L211H probably damaging Het
Or2h1b T A 17: 37,462,077 (GRCm39) N262I possibly damaging Het
Or6c1 G A 10: 129,517,699 (GRCm39) T303I probably benign Het
Or6c75 T C 10: 129,337,716 (GRCm39) L313S probably benign Het
Pdzd7 A G 19: 45,024,664 (GRCm39) S452P probably benign Het
Prune2 A G 19: 17,179,034 (GRCm39) I2982V probably damaging Het
Ptpdc1 G A 13: 48,740,577 (GRCm39) R285C probably damaging Het
Raf1 T C 6: 115,597,249 (GRCm39) D486G probably damaging Het
Rbm27 A T 18: 42,408,545 (GRCm39) probably benign Het
Slit2 A G 5: 48,461,378 (GRCm39) Y1475C possibly damaging Het
Snx14 G A 9: 88,295,613 (GRCm39) T184M probably damaging Het
Tgm5 G T 2: 120,905,650 (GRCm39) N168K probably damaging Het
Ugt2b38 A G 5: 87,571,891 (GRCm39) V47A probably benign Het
Ush2a A G 1: 188,558,568 (GRCm39) H3599R probably benign Het
Veph1 T C 3: 66,122,896 (GRCm39) E211G possibly damaging Het
Wapl T A 14: 34,452,604 (GRCm39) H832Q probably damaging Het
Zfp281 T A 1: 136,553,772 (GRCm39) V250D probably benign Het
Zfp36l2 A G 17: 84,493,252 (GRCm39) S462P unknown Het
Other mutations in Kcnj12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Kcnj12 APN 11 60,960,319 (GRCm39) missense probably benign 0.00
R0377:Kcnj12 UTSW 11 60,960,222 (GRCm39) missense probably benign
R1358:Kcnj12 UTSW 11 60,960,713 (GRCm39) missense probably benign 0.08
R1691:Kcnj12 UTSW 11 60,961,103 (GRCm39) missense possibly damaging 0.61
R1835:Kcnj12 UTSW 11 60,960,383 (GRCm39) missense possibly damaging 0.86
R3808:Kcnj12 UTSW 11 60,961,103 (GRCm39) missense probably benign 0.01
R3809:Kcnj12 UTSW 11 60,961,103 (GRCm39) missense probably benign 0.01
R5330:Kcnj12 UTSW 11 60,961,012 (GRCm39) missense probably benign 0.06
R5331:Kcnj12 UTSW 11 60,961,012 (GRCm39) missense probably benign 0.06
R5777:Kcnj12 UTSW 11 60,961,277 (GRCm39) missense possibly damaging 0.88
R6065:Kcnj12 UTSW 11 60,960,703 (GRCm39) missense probably damaging 1.00
R6525:Kcnj12 UTSW 11 60,960,397 (GRCm39) missense probably damaging 1.00
R7715:Kcnj12 UTSW 11 60,957,778 (GRCm39) critical splice donor site probably null
R8071:Kcnj12 UTSW 11 60,960,825 (GRCm39) missense probably damaging 1.00
R8517:Kcnj12 UTSW 11 60,960,199 (GRCm39) missense probably benign 0.00
R9351:Kcnj12 UTSW 11 60,960,673 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15