Incidental Mutation 'IGL01309:Kcnj6'
ID73567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj6
Ensembl Gene ENSMUSG00000043301
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 6
SynonymsKCNJ7, GIRK2, Kir3.2
Accession Numbers

Genbank: NM_001025584.2, NM_001025585.2, NM_001025590.1, NM_010606.2  

Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01309
Quality Score
Status
Chromosome16
Chromosomal Location94748636-94997701 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94832455 bp
ZygosityHeterozygous
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]
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: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Commd3 A G 2: 18,672,478 E5G probably benign Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gm5965 T G 16: 88,778,331 S131A possibly damaging Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Megf11 T A 9: 64,681,416 S532R probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtmr9 A G 14: 63,526,805 L491P probably damaging Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Tnrc6a A T 7: 123,171,494 I836F probably benign Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Kcnj6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Kcnj6 APN 16 94832955 missense probably benign 0.21
IGL01603:Kcnj6 APN 16 94833199 missense probably benign 0.00
IGL02212:Kcnj6 APN 16 94832487 missense probably damaging 1.00
IGL02982:Kcnj6 APN 16 94832517 missense possibly damaging 0.89
IGL03351:Kcnj6 APN 16 94832583 missense probably damaging 1.00
Seizure UTSW 16 94832659 missense probably damaging 1.00
H8477:Kcnj6 UTSW 16 94832937 missense probably damaging 1.00
IGL02796:Kcnj6 UTSW 16 94832919 missense probably benign 0.00
R0070:Kcnj6 UTSW 16 94941197 missense probably benign
R1558:Kcnj6 UTSW 16 94762499 missense possibly damaging 0.57
R1676:Kcnj6 UTSW 16 94832584 missense probably damaging 1.00
R2435:Kcnj6 UTSW 16 94762679 missense probably damaging 0.99
R3700:Kcnj6 UTSW 16 94833006 missense probably damaging 0.96
R3800:Kcnj6 UTSW 16 94833027 missense probably damaging 1.00
R4012:Kcnj6 UTSW 16 94825018 splice site probably null
R4899:Kcnj6 UTSW 16 94832613 missense probably damaging 1.00
R5124:Kcnj6 UTSW 16 94832659 missense probably damaging 1.00
R5359:Kcnj6 UTSW 16 94832453 nonsense probably null
R5560:Kcnj6 UTSW 16 94832965 missense probably benign 0.06
R5583:Kcnj6 UTSW 16 94833201 missense probably benign 0.26
R6057:Kcnj6 UTSW 16 94832377 missense probably damaging 1.00
R6330:Kcnj6 UTSW 16 94762601 missense possibly damaging 0.93
R6582:Kcnj6 UTSW 16 94832826 missense possibly damaging 0.93
R6604:Kcnj6 UTSW 16 94762645 missense probably damaging 1.00
R6802:Kcnj6 UTSW 16 94762577 missense probably benign 0.06
R6866:Kcnj6 UTSW 16 94762677 missense probably damaging 1.00
R7304:Kcnj6 UTSW 16 94941183 missense probably benign
R7337:Kcnj6 UTSW 16 94833214 missense probably benign 0.10
R7396:Kcnj6 UTSW 16 94762447 missense probably benign 0.31
Posted On2013-10-07