Incidental Mutation 'R1358:Kcnj12'
ID 156226
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 039423-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1358 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 60913390-60961957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60960713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 235 (P235H)
Ref Sequence ENSEMBL: ENSMUSP00000104357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041944] [ENSMUST00000089184] [ENSMUST00000108717]
AlphaFold P52187
Predicted Effect probably benign
Transcript: ENSMUST00000041944
AA Change: P337H

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: P337H

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: P235H

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: P235H

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: P235H

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: P235H

DomainStartEndE-ValueType
Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.1%
  • 10x: 92.2%
  • 20x: 80.4%
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Helz2 G A 2: 180,874,774 (GRCm39) R1907C probably damaging Het
Rnase2b G A 14: 51,400,146 (GRCm39) V76I probably damaging Het
Slc52a2 G A 15: 76,424,269 (GRCm39) R169H probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptb CTT CTTT 12: 76,668,095 (GRCm39) probably null Het
Sptb C T 12: 76,668,100 (GRCm39) G666S probably damaging Het
Vmn2r39 A T 7: 9,026,687 (GRCm39) F438Y possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TACGCTGTGTGACTGAAGAGTGCC -3'
(R):5'- CAAAGTCGTCTGTCTCAAGGTCCTG -3'

Sequencing Primer
(F):5'- TGGGCTGCATCATTGACTC -3'
(R):5'- TCAAGGTCCTGACGGCTAATG -3'
Posted On 2014-02-11