Incidental Mutation 'R4757:Gckr'
ID 358225
Institutional Source Beutler Lab
Gene Symbol Gckr
Ensembl Gene ENSMUSG00000059434
Gene Name glucokinase regulatory protein
Synonyms GKRP
MMRRC Submission 041973-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4757 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31454787-31484658 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 31464728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 344 (M344I)
Ref Sequence ENSEMBL: ENSMUSP00000144202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072228] [ENSMUST00000201166]
AlphaFold Q91X44
Predicted Effect possibly damaging
Transcript: ENSMUST00000072228
AA Change: M344I

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: M344I

DomainStartEndE-ValueType
PDB:4LC9|A 1 584 N/A PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000201166
AA Change: M344I

PolyPhen 2 Score 0.490 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: M344I

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,336,830 (GRCm39) M45L probably benign Het
Abcb1a T A 5: 8,787,632 (GRCm39) V978D probably damaging Het
Acsm4 T C 7: 119,297,900 (GRCm39) V179A probably benign Het
Agtr1a C A 13: 30,565,842 (GRCm39) Y302* probably null Het
Akap9 T C 5: 4,058,382 (GRCm39) I1677T probably damaging Het
Ankk1 T A 9: 49,327,230 (GRCm39) M650L probably benign Het
Apod T A 16: 31,122,280 (GRCm39) N65Y probably damaging Het
Bcl2l1 T A 2: 152,624,178 (GRCm39) N197Y possibly damaging Het
Brpf1 A T 6: 113,292,072 (GRCm39) I373F probably damaging Het
Car13 T C 3: 14,726,615 (GRCm39) V257A probably damaging Het
Ccdc150 A T 1: 54,317,874 (GRCm39) H271L possibly damaging Het
Cit T A 5: 116,135,608 (GRCm39) I1836N probably damaging Het
Clec12b A G 6: 129,357,655 (GRCm39) S68P probably damaging Het
Col4a4 A G 1: 82,506,187 (GRCm39) F298L unknown Het
Crct1 G A 3: 92,922,093 (GRCm39) Q15* probably null Het
Creld1 A G 6: 113,469,208 (GRCm39) E346G probably benign Het
Ctnnal1 T A 4: 56,847,980 (GRCm39) H53L probably damaging Het
Cyb5d1 T C 11: 69,285,814 (GRCm39) D74G probably damaging Het
Deptor A T 15: 55,075,674 (GRCm39) S293C probably damaging Het
Dnajb12 A G 10: 59,728,592 (GRCm39) S187G probably benign Het
Duoxa2 G T 2: 122,131,072 (GRCm39) V78L possibly damaging Het
Fem1al A T 11: 29,775,454 (GRCm39) M1K probably null Het
Fhod1 C A 8: 106,074,443 (GRCm39) probably benign Het
Foxf2 C T 13: 31,810,172 (GRCm39) P37L unknown Het
Gabbr2 T C 4: 46,875,675 (GRCm39) N149S probably damaging Het
Herc6 G A 6: 57,577,045 (GRCm39) probably null Het
Igf1 A T 10: 87,751,287 (GRCm39) E161V probably benign Het
Ighv8-13 T A 12: 115,729,268 (GRCm39) probably benign Het
Igkv6-14 A T 6: 70,412,426 (GRCm39) L12* probably null Het
Kpnb1 C T 11: 97,068,160 (GRCm39) S270N possibly damaging Het
Lingo1 A G 9: 56,527,209 (GRCm39) V460A probably benign Het
Lsm6 T C 8: 79,539,711 (GRCm39) probably null Het
Mccc1 C T 3: 36,050,066 (GRCm39) G42E probably benign Het
Mga A G 2: 119,734,120 (GRCm39) K323E possibly damaging Het
Mks1 A G 11: 87,753,850 (GRCm39) *562W probably null Het
Mrgpra4 T A 7: 47,630,686 (GRCm39) E305V probably damaging Het
Msh4 T A 3: 153,585,024 (GRCm39) H360L probably damaging Het
Mthfsd C T 8: 121,825,737 (GRCm39) probably null Het
Myl12a A T 17: 71,303,798 (GRCm39) F26L possibly damaging Het
Nedd4l A G 18: 65,298,676 (GRCm39) S343G probably damaging Het
Nlgn1 T A 3: 25,490,332 (GRCm39) D465V probably damaging Het
Nlgn1 C T 3: 25,490,507 (GRCm39) V407I possibly damaging Het
Npsr1 T C 9: 24,046,064 (GRCm39) V61A probably benign Het
Nrxn2 A G 19: 6,559,851 (GRCm39) D160G probably damaging Het
Or2p2 T C 13: 21,256,715 (GRCm39) Y252C probably damaging Het
Or52d3 T C 7: 104,229,404 (GRCm39) Y184H possibly damaging Het
Or5b107 A C 19: 13,143,277 (GRCm39) S300R probably benign Het
Or5b113 G T 19: 13,342,810 (GRCm39) A273S probably benign Het
Or9g4 A G 2: 85,504,664 (GRCm39) F277S probably damaging Het
Pbx1 C A 1: 168,023,450 (GRCm39) R235L probably damaging Het
Pcnx4 T C 12: 72,603,067 (GRCm39) V443A probably benign Het
Pde7b T C 10: 20,423,688 (GRCm39) T63A probably benign Het
Phf3 C T 1: 30,859,908 (GRCm39) G873D probably damaging Het
Phox2b A T 5: 67,256,197 (GRCm39) Y30N probably damaging Het
Plch2 T A 4: 155,080,690 (GRCm39) I599F possibly damaging Het
Plekha8 A G 6: 54,599,213 (GRCm39) E249G probably benign Het
Pou2af1 T A 9: 51,144,439 (GRCm39) Y118N possibly damaging Het
Ppp3cc T A 14: 70,455,635 (GRCm39) K489N possibly damaging Het
Sema4b T C 7: 79,866,577 (GRCm39) L219P probably damaging Het
Slc6a5 T G 7: 49,609,030 (GRCm39) V745G probably benign Het
Slf2 A G 19: 44,923,497 (GRCm39) M104V probably benign Het
Slx1b A G 7: 126,291,701 (GRCm39) V121A probably benign Het
Speer4e2 T A 5: 15,026,222 (GRCm39) H145L probably benign Het
Spen T A 4: 141,200,390 (GRCm39) K2746* probably null Het
Stxbp5l T C 16: 37,008,996 (GRCm39) Y681C probably damaging Het
Sv2b T C 7: 74,773,918 (GRCm39) T518A probably benign Het
Tgm7 A T 2: 120,926,870 (GRCm39) H426Q possibly damaging Het
Tlx2 A G 6: 83,046,900 (GRCm39) F54S probably benign Het
Trp53bp2 A T 1: 182,286,339 (GRCm39) M1060L probably benign Het
Trpv5 T A 6: 41,630,148 (GRCm39) E647D probably damaging Het
Tut1 G T 19: 8,936,672 (GRCm39) K165N possibly damaging Het
Tyro3 A G 2: 119,641,419 (GRCm39) K543E probably damaging Het
Vmn2r69 T A 7: 85,061,575 (GRCm39) Y133F probably damaging Het
Zfhx4 T A 3: 5,465,122 (GRCm39) V1785D possibly damaging Het
Zfp451 A G 1: 33,804,939 (GRCm39) L1037P probably damaging Het
Zscan29 A T 2: 120,991,392 (GRCm39) F799I 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCGAGAGTGTGTTAACATGGC -3'
(R):5'- GGACCCACATGGAATTTGATGC -3'

Sequencing Primer
(F):5'- TGTGTTAACATGGCAGGAGTAAG -3'
(R):5'- CCACATGGAATTTGATGCTTCGAATG -3'
Posted On 2015-11-11