Incidental Mutation 'IGL01102:Gckr'
ID 51106
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 # IGL01102
Quality Score
Status
Chromosome 5
Chromosomal Location 31454787-31484658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31466381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 452 (L452P)
Ref Sequence ENSEMBL: ENSMUSP00000072084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072228] [ENSMUST00000201166]
AlphaFold Q91X44
Predicted Effect probably damaging
Transcript: ENSMUST00000072228
AA Change: L452P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: L452P

DomainStartEndE-ValueType
PDB:4LC9|A 1 584 N/A PDB
Predicted Effect probably benign
Transcript: ENSMUST00000201166
AA Change: L452P

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: L452P

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,968 (GRCm39) probably benign Het
Bloc1s2-ps C T 2: 52,509,914 (GRCm39) A50V probably benign Het
Bltp3b T C 10: 89,627,240 (GRCm39) L435P probably benign Het
Col4a3 A G 1: 82,647,441 (GRCm39) D455G unknown Het
Col4a3 A G 1: 82,647,976 (GRCm39) I496V unknown Het
Coro1c A T 5: 113,987,675 (GRCm39) M222K probably benign Het
Dnah5 T A 15: 28,410,149 (GRCm39) probably null Het
Emc4 C A 2: 112,197,871 (GRCm39) probably benign Het
Fcer2a T C 8: 3,738,842 (GRCm39) D32G possibly damaging Het
Fhip1a A G 3: 85,572,808 (GRCm39) probably benign Het
Garnl3 T C 2: 32,896,828 (GRCm39) K559E probably damaging Het
Gm4841 A G 18: 60,403,124 (GRCm39) V323A probably damaging Het
Gm6902 T A 7: 22,973,087 (GRCm39) I147L probably benign Het
Gpr75 T C 11: 30,841,755 (GRCm39) V220A probably benign Het
Hdac6 A G X: 7,813,237 (GRCm39) S42P probably benign Het
Hdhd2 A G 18: 77,044,607 (GRCm39) N128S probably damaging Het
Hsd3b2 G T 3: 98,618,995 (GRCm39) R317S probably damaging Het
Il23r T A 6: 67,400,909 (GRCm39) I474F probably damaging Het
Itga5 T C 15: 103,255,102 (GRCm39) Y954C probably benign Het
Itgam T C 7: 127,679,445 (GRCm39) F196L possibly damaging Het
Mapkbp1 T C 2: 119,852,339 (GRCm39) V957A possibly damaging Het
Mblac2 T C 13: 81,898,125 (GRCm39) M167T probably damaging Het
Mterf4 C T 1: 93,232,812 (GRCm39) R13H possibly damaging Het
Npffr1 T G 10: 61,449,987 (GRCm39) V87G probably damaging Het
Or5h18 G A 16: 58,848,192 (GRCm39) P26L probably benign Het
Or6c76b A G 10: 129,692,497 (GRCm39) I37V probably benign Het
Phldb2 A G 16: 45,645,423 (GRCm39) L386P probably damaging Het
Ppp1r13b A G 12: 111,799,653 (GRCm39) I708T probably benign Het
Pramel31 A G 4: 144,090,195 (GRCm39) I412V probably benign Het
Ramp2 T A 11: 101,138,453 (GRCm39) Y85N probably benign Het
Rnf217 A G 10: 31,484,499 (GRCm39) Y228H probably damaging Het
Rock1 T G 18: 10,080,502 (GRCm39) D1014A probably benign Het
Scyl3 T A 1: 163,762,338 (GRCm39) C101* probably null Het
Sema6b G T 17: 56,439,761 (GRCm39) L27I possibly damaging Het
Slc10a5 A G 3: 10,400,369 (GRCm39) V97A probably benign Het
Strc C A 2: 121,195,541 (GRCm39) R1636L probably benign Het
Tm9sf1 T A 14: 55,880,224 (GRCm39) T58S probably damaging Het
Tmem106c T C 15: 97,864,825 (GRCm39) Y85H probably damaging Het
Vmn2r9 A G 5: 108,990,811 (GRCm39) probably null Het
Vps13a A G 19: 16,628,781 (GRCm39) probably null Het
Zfp976 A T 7: 42,263,333 (GRCm39) L168* probably null 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
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
IGL02350:Gckr APN 5 31,465,134 (GRCm39) missense possibly damaging 0.82
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 2013-06-21