Incidental Mutation 'IGL01309:Kcnj6'
ID 73567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj6
Ensembl Gene ENSMUSG00000043301
Gene Name potassium inwardly-rectifying channel, subfamily J, member 6
Synonyms GIRK2, Kir3.2, KCNJ7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01309
Quality Score
Status
Chromosome 16
Chromosomal Location 94549495-94798560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94633314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 266 (Y266H)
Ref Sequence ENSEMBL: ENSMUSP00000093558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095873] [ENSMUST00000099508] [ENSMUST00000165538] [ENSMUST00000232562]
AlphaFold no structure available at present
PDB Structure Crystal Structure of the Cytoplasmic Domain of G-Protein-Gated Inward Rectifier Potassium Channel Kir3.2 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000095873
AA Change: Y266H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: Y266H

DomainStartEndE-ValueType
Pfam:IRK 59 397 9.3e-166 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099508
AA Change: Y266H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: Y266H

DomainStartEndE-ValueType
Pfam:IRK 59 382 8.5e-146 PFAM
low complexity region 396 411 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165538
AA Change: Y248H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: Y248H

DomainStartEndE-ValueType
Pfam:IRK 41 302 5.3e-122 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232403
Predicted Effect probably damaging
Transcript: ENSMUST00000232562
AA Change: Y248H

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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 a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)

Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 16,931,410 (GRCm39) V275A possibly damaging Het
Adamts2 A G 11: 50,694,528 (GRCm39) D1105G probably benign Het
Adgrb3 T A 1: 25,151,352 (GRCm39) M195L possibly damaging Het
Adrm1 A G 2: 179,817,756 (GRCm39) probably benign Het
Atg13 T A 2: 91,509,176 (GRCm39) I457F possibly damaging Het
BC034090 T C 1: 155,102,130 (GRCm39) N45D probably damaging Het
C3 C T 17: 57,516,652 (GRCm39) probably benign Het
Cacna1a G A 8: 85,249,657 (GRCm39) G221D probably damaging Het
Calr A G 8: 85,573,335 (GRCm39) probably null Het
Chd3 C T 11: 69,248,557 (GRCm39) V825I probably damaging Het
Chdh T G 14: 29,757,761 (GRCm39) probably benign Het
Ckap5 T C 2: 91,400,529 (GRCm39) V627A probably damaging Het
Commd3 A G 2: 18,677,289 (GRCm39) E5G probably benign Het
Ddi1 T C 9: 6,265,773 (GRCm39) R199G probably damaging Het
Dennd4c A G 4: 86,723,724 (GRCm39) probably benign Het
Dok7 G A 5: 35,236,912 (GRCm39) G293D possibly damaging Het
Epm2aip1 T C 9: 111,102,596 (GRCm39) V523A probably benign Het
Fam171b C T 2: 83,709,791 (GRCm39) Q488* probably null Het
Gabbr1 G A 17: 37,359,499 (GRCm39) probably null Het
Gm5965 T G 16: 88,575,219 (GRCm39) S131A possibly damaging Het
Gpcpd1 T C 2: 132,392,244 (GRCm39) D235G probably damaging Het
Grip1 A T 10: 119,767,207 (GRCm39) K111* probably null Het
Itih4 G T 14: 30,613,706 (GRCm39) D308Y probably damaging Het
Lrrc41 T C 4: 115,953,663 (GRCm39) L783P probably damaging Het
Map4k5 T C 12: 69,888,737 (GRCm39) D298G probably benign Het
Mapkbp1 T C 2: 119,849,423 (GRCm39) F712L probably damaging Het
Mcoln2 T C 3: 145,869,282 (GRCm39) probably benign Het
Megf11 T A 9: 64,588,698 (GRCm39) S532R probably benign Het
Mkx T C 18: 6,937,192 (GRCm39) D284G probably benign Het
Mmp16 A G 4: 18,116,185 (GRCm39) I596M probably damaging Het
Msto1 C A 3: 88,820,993 (GRCm39) R34L probably benign Het
Mtmr9 A G 14: 63,764,254 (GRCm39) L491P probably damaging Het
Or4a66 T G 2: 88,531,310 (GRCm39) Y121S probably damaging Het
Or8b52 T A 9: 38,576,289 (GRCm39) I284L probably benign Het
Or9s13 T C 1: 92,548,057 (GRCm39) M143T probably damaging Het
Otor T C 2: 142,920,532 (GRCm39) V38A possibly damaging Het
Pcdhb12 G T 18: 37,569,207 (GRCm39) D118Y probably damaging Het
Prelp T C 1: 133,842,545 (GRCm39) H200R probably benign Het
Prmt5 T C 14: 54,747,334 (GRCm39) Y481C probably damaging Het
Psg23 T G 7: 18,348,465 (GRCm39) D114A probably damaging Het
Ptger4 A T 15: 5,272,239 (GRCm39) Y127N probably damaging Het
Rabgap1l C A 1: 160,528,368 (GRCm39) V385L probably benign Het
Rergl T A 6: 139,470,256 (GRCm39) K191* probably null Het
Sart3 A G 5: 113,897,311 (GRCm39) F252S probably damaging Het
Sbno1 A T 5: 124,519,769 (GRCm39) S1169T probably benign Het
Serpinb8 C T 1: 107,532,448 (GRCm39) T180M probably damaging Het
Sipa1l1 G A 12: 82,434,470 (GRCm39) E747K probably benign Het
Sptb T A 12: 76,634,237 (GRCm39) D2158V probably benign Het
Sycp2 T G 2: 177,999,904 (GRCm39) D1024A probably benign Het
Tbr1 T G 2: 61,636,411 (GRCm39) N262K possibly damaging Het
Tnrc6a A T 7: 122,770,717 (GRCm39) I836F probably benign Het
Ttn T C 2: 76,769,091 (GRCm39) E2823G probably damaging Het
Uqcrc1 T A 9: 108,778,026 (GRCm39) L441Q possibly damaging Het
Vmn1r180 T C 7: 23,652,424 (GRCm39) F196L probably damaging Het
Vmn2r111 T C 17: 22,787,997 (GRCm39) I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 (GRCm39) H353L probably damaging Het
Other mutations in Kcnj6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Kcnj6 APN 16 94,633,814 (GRCm39) missense probably benign 0.21
IGL01603:Kcnj6 APN 16 94,634,058 (GRCm39) missense probably benign 0.00
IGL02212:Kcnj6 APN 16 94,633,346 (GRCm39) missense probably damaging 1.00
IGL02982:Kcnj6 APN 16 94,633,376 (GRCm39) missense possibly damaging 0.89
IGL03351:Kcnj6 APN 16 94,633,442 (GRCm39) missense probably damaging 1.00
Seizure UTSW 16 94,633,518 (GRCm39) missense probably damaging 1.00
H8477:Kcnj6 UTSW 16 94,633,796 (GRCm39) missense probably damaging 1.00
IGL02796:Kcnj6 UTSW 16 94,633,778 (GRCm39) missense probably benign 0.00
R0070:Kcnj6 UTSW 16 94,742,056 (GRCm39) missense probably benign
R1558:Kcnj6 UTSW 16 94,563,358 (GRCm39) missense possibly damaging 0.57
R1676:Kcnj6 UTSW 16 94,633,443 (GRCm39) missense probably damaging 1.00
R2435:Kcnj6 UTSW 16 94,563,538 (GRCm39) missense probably damaging 0.99
R3700:Kcnj6 UTSW 16 94,633,865 (GRCm39) missense probably damaging 0.96
R3800:Kcnj6 UTSW 16 94,633,886 (GRCm39) missense probably damaging 1.00
R4012:Kcnj6 UTSW 16 94,625,877 (GRCm39) splice site probably null
R4899:Kcnj6 UTSW 16 94,633,472 (GRCm39) missense probably damaging 1.00
R5124:Kcnj6 UTSW 16 94,633,518 (GRCm39) missense probably damaging 1.00
R5359:Kcnj6 UTSW 16 94,633,312 (GRCm39) nonsense probably null
R5560:Kcnj6 UTSW 16 94,633,824 (GRCm39) missense probably benign 0.06
R5583:Kcnj6 UTSW 16 94,634,060 (GRCm39) missense probably benign 0.26
R6057:Kcnj6 UTSW 16 94,633,236 (GRCm39) missense probably damaging 1.00
R6330:Kcnj6 UTSW 16 94,563,460 (GRCm39) missense possibly damaging 0.93
R6582:Kcnj6 UTSW 16 94,633,685 (GRCm39) missense possibly damaging 0.93
R6604:Kcnj6 UTSW 16 94,563,504 (GRCm39) missense probably damaging 1.00
R6802:Kcnj6 UTSW 16 94,563,436 (GRCm39) missense probably benign 0.06
R6866:Kcnj6 UTSW 16 94,563,536 (GRCm39) missense probably damaging 1.00
R7304:Kcnj6 UTSW 16 94,742,042 (GRCm39) missense probably benign
R7337:Kcnj6 UTSW 16 94,634,073 (GRCm39) missense probably benign 0.10
R7396:Kcnj6 UTSW 16 94,563,306 (GRCm39) missense probably benign 0.31
R8543:Kcnj6 UTSW 16 94,563,250 (GRCm39) missense possibly damaging 0.73
R9614:Kcnj6 UTSW 16 94,633,307 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07