Incidental Mutation 'IGL02388:Kcnj11'
ID291614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj11
Ensembl Gene ENSMUSG00000096146
Gene Namepotassium inwardly rectifying channel, subfamily J, member 11
SynonymsKir6.2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02388
Quality Score
Status
Chromosome7
Chromosomal Location46093953-46100764 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46099789 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 37 (S37P)
Ref Sequence ENSEMBL: ENSMUSP00000147439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033123] [ENSMUST00000180081] [ENSMUST00000209291] [ENSMUST00000209881] [ENSMUST00000211674]
Predicted Effect probably benign
Transcript: ENSMUST00000033123
SMART Domains Protein: ENSMUSP00000033123
Gene: ENSMUSG00000040136

DomainStartEndE-ValueType
transmembrane domain 30 52 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
transmembrane domain 105 124 N/A INTRINSIC
transmembrane domain 131 148 N/A INTRINSIC
transmembrane domain 168 190 N/A INTRINSIC
Pfam:ABC_membrane 299 590 1.3e-39 PFAM
AAA 705 920 4.46e-14 SMART
low complexity region 972 994 N/A INTRINSIC
Pfam:ABC_membrane 1019 1301 1.3e-49 PFAM
AAA 1377 1570 4.33e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000180081
SMART Domains Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146

DomainStartEndE-ValueType
low complexity region 21 34 N/A INTRINSIC
Pfam:IRK 36 360 4.9e-138 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209291
Predicted Effect probably benign
Transcript: ENSMUST00000209432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209863
Predicted Effect probably benign
Transcript: ENSMUST00000209881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210637
Predicted Effect probably benign
Transcript: ENSMUST00000210655
Predicted Effect probably benign
Transcript: ENSMUST00000210770
Predicted Effect probably benign
Transcript: ENSMUST00000211674
AA Change: S37P

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired insulin secretion, mild glucose intolerance, reduced glucagon secretion in response to hypoglycemia, hypoxia-induced seizure susceptibility, and stress-induced arrhythmia and sudden death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Ccdc77 G A 6: 120,331,897 A301V probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fam114a1 A T 5: 65,008,980 probably benign Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Hpse2 A T 19: 43,294,253 V187D probably damaging Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1251 T C 2: 89,666,972 S305G probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Pitpnb T C 5: 111,330,833 F7S possibly damaging Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Kcnj11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Kcnj11 APN 7 46098769 missense probably benign 0.02
IGL01767:Kcnj11 APN 7 46099065 missense probably benign 0.05
IGL01950:Kcnj11 APN 7 46099149 missense probably damaging 1.00
R0019:Kcnj11 UTSW 7 46098939 missense probably benign 0.34
R0710:Kcnj11 UTSW 7 46099125 missense probably benign 0.00
R1216:Kcnj11 UTSW 7 46099861 missense probably benign 0.00
R1819:Kcnj11 UTSW 7 46099156 missense probably benign
R2155:Kcnj11 UTSW 7 46099357 missense probably damaging 1.00
R3148:Kcnj11 UTSW 7 46099120 missense probably benign 0.00
R3498:Kcnj11 UTSW 7 46099602 missense probably damaging 1.00
R4128:Kcnj11 UTSW 7 46099719 missense probably damaging 1.00
R4766:Kcnj11 UTSW 7 46099816 missense probably benign
R4926:Kcnj11 UTSW 7 46099120 missense probably benign 0.00
R5680:Kcnj11 UTSW 7 46098808 missense probably benign
R5708:Kcnj11 UTSW 7 46099818 missense probably benign 0.00
R7487:Kcnj11 UTSW 7 46098841 missense probably benign 0.01
R7788:Kcnj11 UTSW 7 46099755 missense probably damaging 1.00
R7816:Kcnj11 UTSW 7 46099857 missense probably damaging 1.00
Posted On2015-04-16