Incidental Mutation 'IGL02350:Gckr'
ID 289733
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gckr
Ensembl Gene ENSMUSG00000059434
Gene Name glucokinase regulatory protein
Synonyms GKRP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02350
Quality Score
Status
Chromosome 5
Chromosomal Location 31454787-31484658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 31465134 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91X44
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Celf1 A T 2: 90,828,933 (GRCm39) K27I probably damaging Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Gckr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Gckr APN 5 31,456,920 (GRCm39) missense probably damaging 1.00
IGL00325:Gckr APN 5 31,465,111 (GRCm39) missense possibly damaging 0.92
IGL00958:Gckr APN 5 31,456,129 (GRCm39) splice site probably null
IGL01102:Gckr APN 5 31,466,381 (GRCm39) missense probably damaging 0.97
IGL01380:Gckr APN 5 31,456,977 (GRCm39) unclassified probably benign
IGL01780:Gckr APN 5 31,465,134 (GRCm39) missense possibly damaging 0.82
IGL02110:Gckr APN 5 31,456,082 (GRCm39) missense possibly damaging 0.94
IGL02187:Gckr APN 5 31,464,768 (GRCm39) splice site probably benign
IGL02357:Gckr APN 5 31,465,134 (GRCm39) missense possibly damaging 0.82
IGL02600:Gckr APN 5 31,462,374 (GRCm39) missense probably benign 0.01
IGL02616:Gckr APN 5 31,484,419 (GRCm39) missense probably benign 0.07
IGL02803:Gckr APN 5 31,455,548 (GRCm39) missense probably damaging 1.00
R0004:Gckr UTSW 5 31,454,933 (GRCm39) unclassified probably benign
R0079:Gckr UTSW 5 31,463,883 (GRCm39) missense probably benign 0.01
R0165:Gckr UTSW 5 31,484,292 (GRCm39) missense possibly damaging 0.90
R0853:Gckr UTSW 5 31,462,392 (GRCm39) missense probably damaging 1.00
R0964:Gckr UTSW 5 31,484,259 (GRCm39) splice site probably benign
R2174:Gckr UTSW 5 31,484,353 (GRCm39) missense possibly damaging 0.95
R2212:Gckr UTSW 5 31,458,211 (GRCm39) critical splice donor site probably null
R2892:Gckr UTSW 5 31,483,816 (GRCm39) missense probably benign 0.00
R3412:Gckr UTSW 5 31,458,211 (GRCm39) critical splice donor site probably null
R3413:Gckr UTSW 5 31,458,211 (GRCm39) critical splice donor site probably null
R3764:Gckr UTSW 5 31,483,842 (GRCm39) splice site probably benign
R4608:Gckr UTSW 5 31,465,141 (GRCm39) missense probably damaging 0.99
R4757:Gckr UTSW 5 31,464,728 (GRCm39) missense possibly damaging 0.49
R4814:Gckr UTSW 5 31,455,644 (GRCm39) nonsense probably null
R4953:Gckr UTSW 5 31,465,608 (GRCm39) missense probably damaging 1.00
R5906:Gckr UTSW 5 31,463,922 (GRCm39) missense probably damaging 1.00
R7030:Gckr UTSW 5 31,459,554 (GRCm39) missense possibly damaging 0.89
R7665:Gckr UTSW 5 31,454,899 (GRCm39)
R7684:Gckr UTSW 5 31,465,141 (GRCm39) missense probably damaging 1.00
R8432:Gckr UTSW 5 31,466,447 (GRCm39) missense possibly damaging 0.82
R8925:Gckr UTSW 5 31,456,903 (GRCm39) missense probably damaging 0.98
R8927:Gckr UTSW 5 31,456,903 (GRCm39) missense probably damaging 0.98
R9045:Gckr UTSW 5 31,457,353 (GRCm39) missense possibly damaging 0.94
R9628:Gckr UTSW 5 31,457,934 (GRCm39) missense probably damaging 1.00
R9783:Gckr UTSW 5 31,466,399 (GRCm39) missense probably benign
R9803:Gckr UTSW 5 31,457,368 (GRCm39) missense probably damaging 1.00
Z1176:Gckr UTSW 5 31,458,175 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16