Incidental Mutation 'IGL02340:Kcnj12'
ID 289018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj12
Ensembl Gene ENSMUSG00000042529
Gene Name potassium inwardly-rectifying channel, subfamily J, member 12
Synonyms Kir2.2, IRK2, MB-IRK2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02340
Quality Score
Status
Chromosome 11
Chromosomal Location 60913390-60961957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 60960319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 206 (V206I)
Ref Sequence ENSEMBL: ENSMUSP00000041696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041944] [ENSMUST00000089184] [ENSMUST00000108717]
AlphaFold P52187
Predicted Effect probably benign
Transcript: ENSMUST00000041944
AA Change: V206I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: V206I

DomainStartEndE-ValueType
Pfam:IRK_N 104 148 1.3e-27 PFAM
Pfam:IRK 149 476 2.5e-159 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000089184
AA Change: V104I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: V104I

DomainStartEndE-ValueType
Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108717
AA Change: V104I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: V104I

DomainStartEndE-ValueType
Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt2 T A 7: 27,328,824 (GRCm39) I182N probably damaging Het
Alpk3 A G 7: 80,728,255 (GRCm39) T462A probably benign Het
Amz1 A G 5: 140,738,014 (GRCm39) R425G probably damaging Het
Aoc2 A G 11: 101,217,201 (GRCm39) E428G probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Chchd6 A T 6: 89,396,762 (GRCm39) H216Q probably damaging Het
Chl1 A G 6: 103,675,086 (GRCm39) Y591C probably damaging Het
Cln8 T C 8: 14,945,178 (GRCm39) L164S probably damaging Het
Dscaml1 T C 9: 45,581,474 (GRCm39) I431T possibly damaging Het
Fam234b T C 6: 135,208,659 (GRCm39) L524P probably damaging Het
Fmo1 T C 1: 162,660,559 (GRCm39) N410S probably benign Het
Ftsj3 G A 11: 106,143,972 (GRCm39) R251* probably null Het
Greb1l A T 18: 10,515,200 (GRCm39) D555V probably damaging Het
Hcar1 G T 5: 124,017,135 (GRCm39) H185Q probably damaging Het
Lamc3 G A 2: 31,808,469 (GRCm39) G742S probably damaging Het
Lipg T C 18: 75,093,946 (GRCm39) probably null Het
Ltbp2 A G 12: 84,839,729 (GRCm39) probably null Het
Mcm3ap T G 10: 76,332,386 (GRCm39) Y1234* probably null Het
Myh6 T A 14: 55,194,612 (GRCm39) D719V possibly damaging Het
Myo9b A G 8: 71,743,689 (GRCm39) N250S probably damaging Het
Nherf1 A G 11: 115,070,858 (GRCm39) E270G probably benign Het
Notch2 G A 3: 98,054,652 (GRCm39) W2438* probably null Het
Nphp1 G A 2: 127,621,987 (GRCm39) Q47* probably null Het
Nptx2 T C 5: 144,493,056 (GRCm39) L381P probably damaging Het
Nrxn3 A G 12: 90,171,402 (GRCm39) N911S possibly damaging Het
Or10j2 A T 1: 173,097,972 (GRCm39) I77F probably benign Het
Or5d46 T C 2: 88,169,906 (GRCm39) probably benign Het
P4ha1 T A 10: 59,188,023 (GRCm39) F260Y probably benign Het
Pitpnm2 T C 5: 124,268,676 (GRCm39) D504G probably damaging Het
Prss54 A G 8: 96,292,237 (GRCm39) V114A probably benign Het
Ptprc G A 1: 137,998,957 (GRCm39) T1031M probably damaging Het
Rtf2 T C 2: 172,310,511 (GRCm39) probably benign Het
Ryr3 A G 2: 112,777,349 (GRCm39) probably benign Het
Slc14a2 C T 18: 78,206,341 (GRCm39) E492K probably damaging Het
Stab1 G T 14: 30,862,367 (GRCm39) N2322K probably damaging Het
Thsd7b A G 1: 130,087,369 (GRCm39) N1162S probably benign Het
Tmprss11b T C 5: 86,810,090 (GRCm39) I297V probably benign Het
Tnn T C 1: 159,972,775 (GRCm39) N276D probably benign Het
Trhde A T 10: 114,428,118 (GRCm39) probably benign Het
Vmn1r115 T A 7: 20,578,453 (GRCm39) H153L possibly damaging Het
Vmn1r203 T A 13: 22,708,997 (GRCm39) C259* probably null Het
Xpot T A 10: 121,451,109 (GRCm39) E97V probably damaging Het
Zbtb2 T C 10: 4,318,712 (GRCm39) D438G probably damaging Het
Other mutations in Kcnj12
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7969:Kcnj12 UTSW 11 60,960,430 (GRCm39) nonsense 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
Posted On 2015-04-16