Incidental Mutation 'R5708:Kcnj11'
ID 452080
Institutional Source Beutler Lab
Gene Symbol Kcnj11
Ensembl Gene ENSMUSG00000096146
Gene Name potassium inwardly rectifying channel, subfamily J, member 11
Synonyms Kir6.2
MMRRC Submission 043333-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5708 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45746545-45750215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45749242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 27 (R27H)
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 noncoding transcript
Transcript: ENSMUST00000210637
Predicted Effect probably benign
Transcript: ENSMUST00000211674
AA Change: R27H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000210655
Predicted Effect probably benign
Transcript: ENSMUST00000210770
Meta Mutation Damage Score 0.1565 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 98% (65/66)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik A G 8: 84,729,627 (GRCm39) K101R probably benign Het
4933430I17Rik T C 4: 62,444,106 (GRCm39) S18P probably benign Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aox4 G T 1: 58,285,032 (GRCm39) A595S possibly damaging Het
Asxl2 T A 12: 3,550,603 (GRCm39) S782T possibly damaging Het
C1s2 A T 6: 124,602,702 (GRCm39) L503* probably null Het
C7 A G 15: 5,044,883 (GRCm39) V385A possibly damaging Het
Cdh20 T C 1: 104,912,635 (GRCm39) F630L probably damaging Het
Cdk14 A C 5: 5,316,036 (GRCm39) probably benign Het
Cdkl4 T C 17: 80,846,951 (GRCm39) I239M possibly damaging Het
Cfap299 A T 5: 98,885,566 (GRCm39) M158L probably benign Het
Col11a1 A G 3: 113,890,743 (GRCm39) N360S unknown Het
D630003M21Rik A G 2: 158,062,312 (GRCm39) probably null Het
Dchs1 G A 7: 105,422,016 (GRCm39) P135S probably damaging Het
Dpysl2 A G 14: 67,050,595 (GRCm39) S421P probably benign Het
Edn1 A T 13: 42,457,143 (GRCm39) M59L probably benign Het
EU599041 A G 7: 42,875,311 (GRCm39) noncoding transcript Het
Furin A G 7: 80,047,603 (GRCm39) probably benign Het
Gkn2 T C 6: 87,354,418 (GRCm39) L94P probably damaging Het
Gmeb2 A T 2: 180,906,782 (GRCm39) C117S probably damaging Het
Greb1 T A 12: 16,723,843 (GRCm39) I1869F probably benign Het
Heg1 A G 16: 33,562,774 (GRCm39) E1119G probably damaging Het
Hmgcs2 T A 3: 98,198,478 (GRCm39) L127Q probably damaging Het
Insyn2a C A 7: 134,520,525 (GRCm39) V2F probably damaging Het
Kcnh6 A G 11: 105,911,082 (GRCm39) R493G probably benign Het
Klra14-ps A G 6: 130,134,751 (GRCm39) noncoding transcript Het
Lgmn A T 12: 102,370,587 (GRCm39) N114K possibly damaging Het
Lipg C T 18: 75,088,505 (GRCm39) M148I possibly damaging Het
Megf8 G T 7: 25,034,022 (GRCm39) R607L probably benign Het
Mks1 A G 11: 87,747,665 (GRCm39) T183A probably benign Het
Mllt11 A G 3: 95,127,515 (GRCm39) V85A probably benign Het
Mpo A T 11: 87,692,581 (GRCm39) probably null Het
Muc4 A T 16: 32,575,515 (GRCm39) probably benign Het
Myoz3 T C 18: 60,712,104 (GRCm39) Y158C probably damaging Het
Or11g25 A T 14: 50,723,452 (GRCm39) D179V probably damaging Het
Or4k41 A G 2: 111,280,354 (GRCm39) R290G probably damaging Het
Or5ae1 A G 7: 84,565,391 (GRCm39) I135V possibly damaging Het
Polq T A 16: 36,881,380 (GRCm39) S902R probably damaging Het
Rarb T C 14: 16,548,545 (GRCm38) T93A probably damaging Het
Rgs12 A G 5: 35,123,696 (GRCm39) D493G probably benign Het
Sec31b T A 19: 44,511,583 (GRCm39) D606V probably damaging Het
Setd2 T C 9: 110,377,891 (GRCm39) F569L possibly damaging Het
Sil1 T C 18: 35,474,170 (GRCm39) E149G probably benign Het
Spata13 T G 14: 60,929,452 (GRCm39) S337A probably damaging Het
Srfbp1 T A 18: 52,622,018 (GRCm39) L360M probably damaging Het
Tecta A T 9: 42,250,222 (GRCm39) C1852S probably damaging Het
Tgfbr3l A G 8: 4,300,360 (GRCm39) T208A probably damaging Het
Tmem38b G C 4: 53,849,051 (GRCm39) probably null Het
Tnfrsf11a T A 1: 105,741,545 (GRCm39) probably null Het
Tnik T A 3: 28,666,120 (GRCm39) probably null Het
Tsc1 A T 2: 28,555,197 (GRCm39) probably benign Het
Zfp930 T C 8: 69,679,113 (GRCm39) V41A probably benign Het
Zscan18 A T 7: 12,508,383 (GRCm39) D372E probably benign 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
IGL02388:Kcnj11 APN 7 45,749,213 (GRCm39) missense probably benign 0.22
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
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
Predicted Primers PCR Primer
(F):5'- AGTGGATGCTTGTGACGCAG -3'
(R):5'- GCATACCAGCCTAGAGGTTG -3'

Sequencing Primer
(F):5'- CTTGTGACGCAGGGCACATTG -3'
(R):5'- TAACCTGAGGAGAGGGCTC -3'
Posted On 2017-01-03