Incidental Mutation 'R3809:Kcnj12'
ID 275117
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 040766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3809 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 60913390-60961957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60961103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 467 (N467S)
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: N467S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: N467S

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: N365S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: N365S

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: N365S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: N365S

DomainStartEndE-ValueType
Pfam:IRK_N 2 46 1.2e-31 PFAM
Pfam:IRK 47 381 5.4e-174 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,650 (GRCm39) Y105C possibly damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Apol7e A T 15: 77,602,262 (GRCm39) T287S probably benign Het
Arhgap12 A T 18: 6,037,057 (GRCm39) N561K probably benign Het
Armc3 G T 2: 19,305,476 (GRCm39) A757S probably damaging Het
Baz2b A T 2: 59,799,240 (GRCm39) S295T probably benign Het
Brd4 T A 17: 32,430,244 (GRCm39) K686N possibly damaging Het
Btnl6 T C 17: 34,727,202 (GRCm39) T443A probably benign Het
Cacna1g T C 11: 94,306,922 (GRCm39) T1801A probably damaging Het
Celsr2 G A 3: 108,310,555 (GRCm39) T1509I possibly damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Cog1 G T 11: 113,545,836 (GRCm39) M370I probably benign Het
Col6a6 C G 9: 105,657,891 (GRCm39) V774L probably damaging Het
Csf1r T A 18: 61,245,836 (GRCm39) S264R probably benign Het
Ctnna2 A T 6: 76,931,740 (GRCm39) V620D probably damaging Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Frmd4b G A 6: 97,300,690 (GRCm39) L214F possibly damaging Het
Fstl1 T A 16: 37,647,113 (GRCm39) L161Q probably damaging Het
Hdac1 A G 4: 129,418,113 (GRCm39) F94S probably damaging Het
Hlf T C 11: 90,278,929 (GRCm39) D45G probably benign Het
Hps3 A T 3: 20,072,976 (GRCm39) M501K probably damaging Het
Ighv14-4 A G 12: 114,140,174 (GRCm39) Y79H probably damaging Het
Ip6k1 T A 9: 107,923,086 (GRCm39) V406D probably damaging Het
Iqcf1 T C 9: 106,379,077 (GRCm39) S29P probably benign Het
Itga11 A G 9: 62,678,664 (GRCm39) T944A probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Kmt2c T C 5: 25,614,136 (GRCm39) R195G possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Neb A G 2: 52,146,801 (GRCm39) I2821T possibly damaging Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or2a25 A T 6: 42,889,271 (GRCm39) K271N probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Or56b1 A T 7: 104,285,540 (GRCm39) I220L possibly damaging Het
Or8b3b C T 9: 38,584,159 (GRCm39) V207I probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Pfdn1 C T 18: 36,584,145 (GRCm39) G63D probably damaging Het
Pgghg T C 7: 140,525,208 (GRCm39) F405L probably damaging Het
Plcd3 T C 11: 102,992,209 (GRCm39) M50V probably null Het
Plekha8 C A 6: 54,596,334 (GRCm39) S198R probably benign Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rnf217 T A 10: 31,379,804 (GRCm39) I473F possibly damaging Het
Sec16a G C 2: 26,331,825 (GRCm39) N63K possibly damaging Het
Sik3 A G 9: 46,130,784 (GRCm39) D1240G probably benign Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc2a3 A G 6: 122,709,388 (GRCm39) I337T probably benign Het
Tent4a A G 13: 69,661,115 (GRCm39) V51A probably damaging Het
Tinag C T 9: 76,859,187 (GRCm39) D474N probably benign Het
Ublcp1 A G 11: 44,349,109 (GRCm39) F242L probably benign Het
Ucp1 C A 8: 84,017,270 (GRCm39) A20D probably damaging Het
Ugt1a7c C T 1: 88,023,104 (GRCm39) R88W possibly damaging Het
Wipf3 A G 6: 54,458,780 (GRCm39) D45G probably damaging Het
Zfp592 G A 7: 80,674,280 (GRCm39) A415T probably benign 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
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'- GGACCTTGAGACAGACGACTTTG -3'
(R):5'- AAATCTCCGACTCCCGTCTG -3'

Sequencing Primer
(F):5'- CCTTGAGACAGACGACTTTGAGATTG -3'
(R):5'- CGTCTGTAGGGCCGTTCAAG -3'
Posted On 2015-04-02