Incidental Mutation 'IGL01780:Gckr'
ID154145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gckr
Ensembl Gene ENSMUSG00000059434
Gene Nameglucokinase regulatory protein
SynonymsGKRP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01780
Quality Score
Status
Chromosome5
Chromosomal Location31297443-31327314 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 31307790 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 368 (H368N)
Ref Sequence ENSEMBL: ENSMUSP00000072084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072228] [ENSMUST00000201166]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072228
AA Change: H368N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: H368N

DomainStartEndE-ValueType
PDB:4LC9|A 1 584 N/A PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000201166
AA Change: H368N

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: H368N

DomainStartEndE-ValueType
PDB:4LC9|A 1 620 N/A PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202909
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 protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced glucokinase protein levels and activity in the liver and altered glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,210,125 N648D probably benign Het
Abhd8 A G 8: 71,461,477 V169A probably benign Het
BC024139 C A 15: 76,121,143 L506F probably benign Het
Cfap65 A T 1: 74,928,348 C190* probably null Het
Cib2 A T 9: 54,549,886 H31Q probably damaging Het
Emb A G 13: 117,249,471 probably benign Het
Eml6 T C 11: 29,805,175 M867V probably benign Het
Flnc A T 6: 29,438,493 K129* probably null Het
Gmds A T 13: 32,225,162 Y106* probably null Het
Homez T C 14: 54,857,898 T118A probably damaging Het
Kcnh7 G A 2: 62,837,163 T344I probably benign Het
Kcnt2 A G 1: 140,351,269 I53V probably benign Het
Krt13 A T 11: 100,119,713 L207Q probably damaging Het
Lipo2 A G 19: 33,730,948 L222P possibly damaging Het
Lrp2 A C 2: 69,486,184 V2151G possibly damaging Het
Mrc2 A G 11: 105,325,721 D112G probably damaging Het
Mrgpra6 T C 7: 47,188,749 T234A probably damaging Het
Mroh2b A G 15: 4,912,000 N338S probably benign Het
Mrpl23 T A 7: 142,536,065 probably benign Het
Myo18a A G 11: 77,850,247 N1442S probably benign Het
Nxn A G 11: 76,274,654 probably benign Het
Olfr1132 T C 2: 87,635,080 I222M possibly damaging Het
Osmr A T 15: 6,828,663 N441K probably benign Het
Patl2 A C 2: 122,121,846 S468R probably damaging Het
Pcdhb1 T C 18: 37,266,522 S509P probably damaging Het
Pmp22 G T 11: 63,158,308 V126F probably benign Het
Prom1 A G 5: 44,029,604 probably benign Het
Prss1 C A 6: 41,463,205 Q159K probably damaging Het
Psd3 G T 8: 67,963,869 H459N probably benign Het
Rasgrp1 A G 2: 117,284,878 L743P probably benign Het
Rpusd4 G A 9: 35,268,424 R71Q probably damaging Het
Rsf1 C T 7: 97,664,770 probably benign Het
Scaf11 T C 15: 96,420,844 T280A possibly damaging Het
Slc16a4 A G 3: 107,303,099 I362V probably benign Het
Syt16 T C 12: 74,266,842 V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 V79A possibly damaging Het
Tenm2 A G 11: 36,046,941 M1635T probably benign Het
Uhrf1bp1 T C 17: 27,893,500 L1221P probably damaging Het
Vmn1r195 A G 13: 22,279,085 T242A probably benign Het
Zfp423 A G 8: 87,781,508 V736A probably damaging Het
Other mutations in Gckr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Gckr APN 5 31299576 missense probably damaging 1.00
IGL00325:Gckr APN 5 31307767 missense possibly damaging 0.92
IGL00958:Gckr APN 5 31298785 splice site probably null
IGL01102:Gckr APN 5 31309037 missense probably damaging 0.97
IGL01380:Gckr APN 5 31299633 unclassified probably benign
IGL02110:Gckr APN 5 31298738 missense possibly damaging 0.94
IGL02187:Gckr APN 5 31307424 splice site probably benign
IGL02350:Gckr APN 5 31307790 missense possibly damaging 0.82
IGL02357:Gckr APN 5 31307790 missense possibly damaging 0.82
IGL02600:Gckr APN 5 31305030 missense probably benign 0.01
IGL02616:Gckr APN 5 31327075 missense probably benign 0.07
IGL02803:Gckr APN 5 31298204 missense probably damaging 1.00
R0004:Gckr UTSW 5 31297589 unclassified probably benign
R0079:Gckr UTSW 5 31306539 missense probably benign 0.01
R0165:Gckr UTSW 5 31326948 missense possibly damaging 0.90
R0853:Gckr UTSW 5 31305048 missense probably damaging 1.00
R0964:Gckr UTSW 5 31326915 splice site probably benign
R2174:Gckr UTSW 5 31327009 missense possibly damaging 0.95
R2212:Gckr UTSW 5 31300867 critical splice donor site probably null
R2892:Gckr UTSW 5 31326472 missense probably benign 0.00
R3412:Gckr UTSW 5 31300867 critical splice donor site probably null
R3413:Gckr UTSW 5 31300867 critical splice donor site probably null
R3764:Gckr UTSW 5 31326498 splice site probably benign
R4608:Gckr UTSW 5 31307797 missense probably damaging 0.99
R4757:Gckr UTSW 5 31307384 missense possibly damaging 0.49
R4814:Gckr UTSW 5 31298300 nonsense probably null
R4953:Gckr UTSW 5 31308264 missense probably damaging 1.00
R5906:Gckr UTSW 5 31306578 missense probably damaging 1.00
R7030:Gckr UTSW 5 31302210 missense possibly damaging 0.89
Posted On2014-02-04