Incidental Mutation 'IGL02388:Kcnj11'
ID 291614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnj11
Ensembl Gene ENSMUSG00000096146
Gene Name potassium inwardly rectifying channel, subfamily J, member 11
Synonyms Kir6.2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02388
Quality Score
Status
Chromosome 7
Chromosomal Location 45746545-45750215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45749213 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q61743
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 probably benign
Transcript: ENSMUST00000211674
AA Change: S37P

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210637
Predicted Effect probably benign
Transcript: ENSMUST00000210655
Predicted Effect probably benign
Transcript: ENSMUST00000210770
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: 66,873,097 (GRCm39) probably benign Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Asphd1 A T 7: 126,545,884 (GRCm39) probably benign Het
Ccdc77 G A 6: 120,308,858 (GRCm39) A301V probably benign Het
Cep350 G T 1: 155,829,499 (GRCm39) T135K probably benign Het
Chrna7 A T 7: 62,757,439 (GRCm39) D153E probably damaging Het
Clec4b2 G T 6: 123,179,187 (GRCm39) probably null Het
Cyp2c67 T C 19: 39,631,799 (GRCm39) N133D probably benign Het
Dglucy T C 12: 100,823,257 (GRCm39) I484T probably damaging Het
Dtna G T 18: 23,730,571 (GRCm39) M319I probably benign Het
E2f5 T A 3: 14,653,340 (GRCm39) M152K probably benign Het
Emsy A T 7: 98,290,873 (GRCm39) M58K probably damaging Het
Epha1 A G 6: 42,341,950 (GRCm39) Y367H probably damaging Het
Etv1 A G 12: 38,831,798 (GRCm39) S32G possibly damaging Het
Fam114a1 A T 5: 65,166,323 (GRCm39) probably benign Het
Fbxo30 T A 10: 11,166,122 (GRCm39) N281K probably benign Het
Galnt12 G T 4: 47,117,941 (GRCm39) R412L probably damaging Het
Gm5786 T A 12: 59,128,382 (GRCm39) noncoding transcript Het
Gm9845 T C 3: 39,412,616 (GRCm39) noncoding transcript Het
Hecw2 A G 1: 53,964,858 (GRCm39) V656A probably benign Het
Hpse2 A T 19: 43,282,692 (GRCm39) V187D probably damaging Het
Itsn2 T A 12: 4,679,557 (GRCm39) M122K possibly damaging Het
Kif13b T C 14: 65,037,807 (GRCm39) I1491T probably damaging Het
Krt36 T A 11: 99,995,990 (GRCm39) K145* probably null Het
Loxhd1 A G 18: 77,456,833 (GRCm39) I499V probably benign Het
Map3k4 G T 17: 12,490,497 (GRCm39) N311K probably damaging Het
Mical2 C A 7: 111,934,620 (GRCm39) H880N probably benign Het
Myo1d A T 11: 80,528,823 (GRCm39) C666* probably null Het
Nlrx1 C T 9: 44,175,302 (GRCm39) R158H probably benign Het
Or10ag53 T A 2: 87,082,295 (GRCm39) Y5N probably benign Het
Or10q1 C A 19: 13,726,994 (GRCm39) H175N possibly damaging Het
Or13a17 A G 7: 140,271,024 (GRCm39) T69A probably benign Het
Or1e21 A T 11: 73,344,106 (GRCm39) L311I probably benign Het
Or4a78 T C 2: 89,497,316 (GRCm39) S305G probably benign Het
Pdgfrl A G 8: 41,430,094 (GRCm39) R154G probably benign Het
Pitpnb T C 5: 111,478,699 (GRCm39) F7S possibly damaging Het
Ppm1n G A 7: 19,013,097 (GRCm39) R285C probably damaging Het
Prdm11 A T 2: 92,805,957 (GRCm39) I331N possibly damaging Het
Ptprb C T 10: 116,203,426 (GRCm39) P2066L probably damaging Het
Ric8b T C 10: 84,828,135 (GRCm39) probably benign Het
Setx A G 2: 29,063,665 (GRCm39) I2320M probably damaging Het
Skil C A 3: 31,165,787 (GRCm39) S368* probably null Het
Slc1a5 G T 7: 16,519,644 (GRCm39) probably null Het
Trpm7 A C 2: 126,661,811 (GRCm39) V1079G possibly damaging Het
Tulp1 A G 17: 28,577,633 (GRCm39) F2L probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Zbtb17 A G 4: 141,189,224 (GRCm39) Y48C probably damaging Het
Zfp605 T A 5: 110,275,506 (GRCm39) I208N possibly damaging Het
Other mutations in Kcnj11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Kcnj11 APN 7 45,748,193 (GRCm39) missense probably benign 0.02
IGL01767:Kcnj11 APN 7 45,748,489 (GRCm39) missense probably benign 0.05
IGL01950:Kcnj11 APN 7 45,748,573 (GRCm39) missense probably damaging 1.00
R0019:Kcnj11 UTSW 7 45,748,363 (GRCm39) missense probably benign 0.34
R0710:Kcnj11 UTSW 7 45,748,549 (GRCm39) missense probably benign 0.00
R1216:Kcnj11 UTSW 7 45,749,285 (GRCm39) missense probably benign 0.00
R1819:Kcnj11 UTSW 7 45,748,580 (GRCm39) missense probably benign
R2155:Kcnj11 UTSW 7 45,748,781 (GRCm39) missense probably damaging 1.00
R3148:Kcnj11 UTSW 7 45,748,544 (GRCm39) missense probably benign 0.00
R3498:Kcnj11 UTSW 7 45,749,026 (GRCm39) missense probably damaging 1.00
R4128:Kcnj11 UTSW 7 45,749,143 (GRCm39) missense probably damaging 1.00
R4766:Kcnj11 UTSW 7 45,749,240 (GRCm39) missense probably benign
R4926:Kcnj11 UTSW 7 45,748,544 (GRCm39) missense probably benign 0.00
R5680:Kcnj11 UTSW 7 45,748,232 (GRCm39) missense probably benign
R5708:Kcnj11 UTSW 7 45,749,242 (GRCm39) missense probably benign 0.00
R7487:Kcnj11 UTSW 7 45,748,265 (GRCm39) missense probably benign 0.01
R7788:Kcnj11 UTSW 7 45,749,179 (GRCm39) missense probably damaging 1.00
R7816:Kcnj11 UTSW 7 45,749,281 (GRCm39) missense probably damaging 1.00
R9189:Kcnj11 UTSW 7 45,748,176 (GRCm39) missense possibly damaging 0.85
Posted On 2015-04-16