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 IRK2, MB-IRK2, Kir2.2
MMRRC Submission
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 61022564-61071131 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 61069604 bp (GRCm38)
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: 81,440,225 V4414E possibly damaging Het
Ahcyl2 T A 6: 29,870,664 I193N probably damaging Het
Amotl2 C T 9: 102,723,769 T345I probably benign Het
Atf6b A T 17: 34,648,575 probably null Het
Cacna1s T G 1: 136,076,732 F337C probably damaging Het
Cep85l T C 10: 53,298,184 I488V probably damaging Het
Cmas T A 6: 142,775,166 D375E probably damaging Het
Cnga4 T C 7: 105,406,046 F279S probably damaging Het
Cyp4f37 T C 17: 32,625,207 V95A probably benign Het
Dao AGG AG 5: 114,015,209 probably benign Het
Dlg2 T C 7: 92,417,258 F235S probably benign Het
Dmxl2 T C 9: 54,446,881 D427G possibly damaging Het
Efl1 T C 7: 82,692,970 Y529H probably benign Het
Epx C T 11: 87,872,721 M224I probably benign Het
Fetub A G 16: 22,929,699 R101G possibly damaging Het
Fubp1 T A 3: 152,222,246 probably null Het
Impdh2 C T 9: 108,562,306 R153* probably null Het
Lrrn1 T A 6: 107,567,850 V203E probably damaging Het
Meikin T C 11: 54,409,710 S338P possibly damaging Het
Myl10 A T 5: 136,700,853 probably null Het
Nt5c3b T C 11: 100,434,741 K120E possibly damaging Het
Olfr118 T A 17: 37,672,656 L211H probably damaging Het
Olfr790 T C 10: 129,501,847 L313S probably benign Het
Olfr802 G A 10: 129,681,830 T303I probably benign Het
Olfr93 T A 17: 37,151,186 N262I possibly damaging Het
Pdzd7 A G 19: 45,036,225 S452P probably benign Het
Prune2 A G 19: 17,201,670 I2982V probably damaging Het
Ptpdc1 G A 13: 48,587,101 R285C probably damaging Het
Raf1 T C 6: 115,620,288 D486G probably damaging Het
Rbm27 A T 18: 42,275,480 probably benign Het
Slit2 A G 5: 48,304,036 Y1475C possibly damaging Het
Snx14 G A 9: 88,413,560 T184M probably damaging Het
Tgm5 G T 2: 121,075,169 N168K probably damaging Het
Ugt2b38 A G 5: 87,424,032 V47A probably benign Het
Ush2a A G 1: 188,826,371 H3599R probably benign Het
Veph1 T C 3: 66,215,475 E211G possibly damaging Het
Wapl T A 14: 34,730,647 H832Q probably damaging Het
Zfp281 T A 1: 136,626,034 V250D probably benign Het
Zfp36l2 A G 17: 84,185,824 S462P unknown Het
Other mutations in Kcnj12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Kcnj12 APN 11 61069493 missense probably benign 0.00
R0377:Kcnj12 UTSW 11 61069396 missense probably benign
R1358:Kcnj12 UTSW 11 61069887 missense probably benign 0.08
R1691:Kcnj12 UTSW 11 61070277 missense possibly damaging 0.61
R1835:Kcnj12 UTSW 11 61069557 missense possibly damaging 0.86
R3808:Kcnj12 UTSW 11 61070277 missense probably benign 0.01
R3809:Kcnj12 UTSW 11 61070277 missense probably benign 0.01
R5330:Kcnj12 UTSW 11 61070186 missense probably benign 0.06
R5331:Kcnj12 UTSW 11 61070186 missense probably benign 0.06
R5777:Kcnj12 UTSW 11 61070451 missense possibly damaging 0.88
R6065:Kcnj12 UTSW 11 61069877 missense probably damaging 1.00
R6525:Kcnj12 UTSW 11 61069571 missense probably damaging 1.00
R7715:Kcnj12 UTSW 11 61066952 critical splice donor site probably null
R8071:Kcnj12 UTSW 11 61069999 missense probably damaging 1.00
R8517:Kcnj12 UTSW 11 61069373 missense probably benign 0.00
R9351:Kcnj12 UTSW 11 61069847 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-09-15