Incidental Mutation 'R0710:Kcnj11'
ID 62700
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 038893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0710 (G1)
Quality Score 116
Status Not validated
Chromosome 7
Chromosomal Location 45746545-45750215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45748549 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 258 (Y258C)
Ref Sequence ENSEMBL: ENSMUSP00000147439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180081] [ENSMUST00000209291] [ENSMUST00000209881] [ENSMUST00000211674]
AlphaFold Q61743
Predicted Effect probably benign
Transcript: ENSMUST00000180081
AA Change: Y171C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136002
Gene: ENSMUSG00000096146
AA Change: Y171C

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 noncoding transcript
Transcript: ENSMUST00000209863
Predicted Effect probably benign
Transcript: ENSMUST00000209881
Predicted Effect probably benign
Transcript: ENSMUST00000211674
AA Change: Y258C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Celsr2 A G 3: 108,320,028 (GRCm39) V928A probably benign Het
Farp1 C T 14: 121,474,555 (GRCm39) T256M probably damaging Het
Fbxl3 G T 14: 103,326,751 (GRCm39) H162Q probably damaging Het
Glra3 C T 8: 56,578,399 (GRCm39) probably benign Het
Gpatch8 A G 11: 102,372,759 (GRCm39) S260P unknown Het
Hectd4 G A 5: 121,474,691 (GRCm39) V2771I probably benign Het
Hgf C A 5: 16,771,761 (GRCm39) C129* probably null Het
Hmg20a G A 9: 56,381,954 (GRCm39) D77N possibly damaging Het
Iqch A T 9: 63,432,418 (GRCm39) S287T probably benign Het
Kif1c A G 11: 70,617,323 (GRCm39) T874A probably benign Het
Mlc1 G T 15: 88,862,067 (GRCm39) Q50K possibly damaging Het
Mtor T C 4: 148,548,848 (GRCm39) S544P possibly damaging Het
Mypop A T 7: 18,734,485 (GRCm39) probably null Het
Poli A T 18: 70,655,961 (GRCm39) probably null Het
Rasa3 C A 8: 13,633,830 (GRCm39) V478L probably damaging Het
Scn3a A T 2: 65,299,390 (GRCm39) M1372K probably damaging Het
Sinhcaf A G 6: 148,834,498 (GRCm39) probably null Het
Sis T C 3: 72,859,864 (GRCm39) Q297R probably damaging Het
Tnpo3 T C 6: 29,586,074 (GRCm39) D172G possibly damaging Het
Tulp2 T A 7: 45,170,232 (GRCm39) V301D possibly damaging Het
Ubr2 G A 17: 47,249,607 (GRCm39) R1582W probably damaging Het
Ubr3 T C 2: 69,783,181 (GRCm39) S706P probably damaging Het
Vmn1r171 C A 7: 23,332,426 (GRCm39) S205Y probably damaging Het
Wnk4 G A 11: 101,164,932 (GRCm39) A754T probably benign Het
Zfp282 C T 6: 47,857,318 (GRCm39) R184W probably 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGAGTAGTCCACAGAATAGCGGC -3'
(R):5'- GGCAGAAACCCTCATCTTCAGCAAG -3'

Sequencing Primer
(F):5'- GTCCTCCTCGGCCACAATG -3'
(R):5'- ATGGCCGCCTGTGCTTC -3'
Posted On 2013-07-30