Incidental Mutation 'R0004:Gckr'
ID98845
Institutional Source Beutler Lab
Gene Symbol Gckr
Ensembl Gene ENSMUSG00000059434
Gene Nameglucokinase regulatory protein
SynonymsGKRP
MMRRC Submission 038300-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0004 (G1)
Quality Score163
Status Not validated
Chromosome5
Chromosomal Location31297443-31327314 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 31297589 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144195 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041266] [ENSMUST00000072228] [ENSMUST00000172435] [ENSMUST00000201166] [ENSMUST00000201417] [ENSMUST00000201675] [ENSMUST00000202158] [ENSMUST00000202615]
Predicted Effect probably benign
Transcript: ENSMUST00000041266
SMART Domains Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552

DomainStartEndE-ValueType
FN3 43 123 4.35e-11 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000072228
SMART Domains Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

DomainStartEndE-ValueType
PDB:4LC9|A 1 584 N/A PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172435
SMART Domains Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552

DomainStartEndE-ValueType
FN3 43 123 4.35e-11 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200845
Predicted Effect probably benign
Transcript: ENSMUST00000201166
SMART Domains Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

DomainStartEndE-ValueType
PDB:4LC9|A 1 620 N/A PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201417
SMART Domains Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
FN3 43 118 9.4e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000201675
SMART Domains Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434

DomainStartEndE-ValueType
PDB:4LC9|A 1 120 7e-64 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201906
Predicted Effect probably benign
Transcript: ENSMUST00000202158
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202456
Predicted Effect probably benign
Transcript: ENSMUST00000202615
SMART Domains Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552

DomainStartEndE-ValueType
signal peptide 1 40 N/A INTRINSIC
FN3 43 123 2.2e-13 SMART
transmembrane domain 161 183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202909
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 98% (63/64)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adal T C 2: 121,152,485 I86T probably damaging Het
Aff3 T C 1: 38,269,726 D376G possibly damaging Het
Akap11 A T 14: 78,514,940 H164Q possibly damaging Het
Akap12 A T 10: 4,353,220 D10V probably damaging Het
Arhgap32 T C 9: 32,151,998 V101A probably damaging Het
Atm A T 9: 53,453,528 probably benign Het
Ccdc18 A G 5: 108,161,700 D387G possibly damaging Het
Ccdc38 A T 10: 93,574,102 Q261L probably damaging Het
Cd180 T G 13: 102,702,708 V33G probably benign Het
Cd207 G A 6: 83,674,248 Q242* probably null Het
Cnp T C 11: 100,576,807 F192S probably damaging Het
Colec10 G T 15: 54,410,875 R33L possibly damaging Het
Csn1s1 A T 5: 87,671,531 M16L probably benign Het
Dnah10 A T 5: 124,726,902 M98L probably benign Het
Dnah17 T C 11: 118,060,092 I2902V possibly damaging Het
Dtnb A G 12: 3,596,635 probably benign Het
Epha5 T C 5: 84,331,842 Y101C probably damaging Het
Ephb2 T A 4: 136,657,524 M860L probably damaging Het
Fbxw18 T C 9: 109,701,313 T77A probably damaging Het
Fgfbp3 A G 19: 36,918,682 S179P possibly damaging Het
Foxp2 A G 6: 15,197,096 T45A possibly damaging Het
Glce T A 9: 62,068,579 Q213L probably damaging Het
Gm1965 A C 6: 89,146,487 H84P unknown Het
Hbegf A G 18: 36,507,506 V166A probably damaging Het
Helb G T 10: 120,108,981 H217N probably damaging Het
Ino80 G A 2: 119,382,960 R1249C probably damaging Het
Kansl2 A G 15: 98,520,376 L392P probably damaging Het
Klra1 A T 6: 130,372,873 Y201N probably damaging Het
Klra3 A G 6: 130,323,687 S240P probably damaging Het
Liph T A 16: 21,984,194 R42* probably null Het
Lrp1 A T 10: 127,541,825 probably null Het
Luc7l2 A T 6: 38,589,234 K52M probably damaging Het
Mecom G A 3: 29,979,911 P215S probably damaging Het
Myo1g T A 11: 6,515,901 T395S probably damaging Het
Ndst4 T A 3: 125,570,826 M384K probably benign Het
Ndufb2 C T 6: 39,596,504 T51I possibly damaging Het
Nell1 C A 7: 50,560,759 probably benign Het
Olfr639 A T 7: 104,012,431 N90K probably benign Het
Oxr1 G A 15: 41,820,540 S434N possibly damaging Het
Pcdhac2 T A 18: 37,145,237 S423R probably benign Het
Pcdhb10 T A 18: 37,411,959 D29E probably benign Het
Pde10a A G 17: 8,981,576 T1053A probably benign Het
Pkdrej T A 15: 85,818,183 H1184L probably damaging Het
Prkaa2 C T 4: 105,047,091 R263Q probably null Het
Prmt9 A G 8: 77,555,782 I103V possibly damaging Het
Rbm15b T C 9: 106,884,936 T678A probably benign Het
Ryr2 T C 13: 11,665,919 Y3180C probably benign Het
Scaf1 T C 7: 45,007,670 probably benign Het
Scn7a T A 2: 66,687,795 N1024I possibly damaging Het
Sec23b T C 2: 144,564,562 probably benign Het
Sf1 C A 19: 6,374,191 P417Q probably damaging Het
Slc4a3 A T 1: 75,557,009 probably benign Het
Stk32a T C 18: 43,305,056 W207R probably damaging Het
Syne1 A T 10: 5,443,132 probably benign Het
Tecta A T 9: 42,345,478 V1634E possibly damaging Het
Tenm2 A G 11: 36,023,357 F2450S probably damaging Het
Tgfb1 T C 7: 25,692,366 probably benign Het
Tpgs2 A G 18: 25,158,238 probably benign Het
Washc5 A G 15: 59,367,467 M149T probably damaging Het
Wrn A T 8: 33,317,560 V290D probably damaging Het
Zbtb41 A G 1: 139,442,888 T688A possibly damaging Het
Zfp560 C T 9: 20,347,967 C533Y probably damaging Het
Zfp791 G A 8: 85,110,866 A123V probably benign 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
IGL01780:Gckr APN 5 31307790 missense possibly damaging 0.82
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
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
R7665:Gckr UTSW 5 31297555
R7684:Gckr UTSW 5 31307797 missense probably damaging 1.00
R8432:Gckr UTSW 5 31309103 missense possibly damaging 0.82
Z1176:Gckr UTSW 5 31300831 missense probably damaging 0.99
Predicted Primers
Posted On2014-01-10