Incidental Mutation 'IGL00325:Gckr'
ID |
6455 |
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)
|
Stock # |
IGL00325
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 31465111 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 360
(I360N)
|
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: I360N
PolyPhen 2
Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000072084 Gene: ENSMUSG00000059434 AA Change: I360N
Domain | Start | End | E-Value | Type |
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201166
AA Change: I360N
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000144202 Gene: ENSMUSG00000059434 AA Change: I360N
Domain | Start | End | E-Value | Type |
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
G |
11: 69,773,517 (GRCm39) |
S431P |
possibly damaging |
Het |
Arid1b |
C |
A |
17: 5,387,385 (GRCm39) |
R1613S |
possibly damaging |
Het |
Atxn2l |
T |
C |
7: 126,097,460 (GRCm39) |
D196G |
possibly damaging |
Het |
Bag3 |
C |
A |
7: 128,148,065 (GRCm39) |
T560K |
probably benign |
Het |
BC051076 |
A |
G |
5: 88,112,354 (GRCm39) |
|
probably benign |
Het |
Becn1 |
A |
T |
11: 101,186,448 (GRCm39) |
M18K |
probably benign |
Het |
C130050O18Rik |
G |
A |
5: 139,400,493 (GRCm39) |
C182Y |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,811,627 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,623,222 (GRCm39) |
S204L |
probably damaging |
Het |
Gaa |
A |
G |
11: 119,165,786 (GRCm39) |
T100A |
probably benign |
Het |
Gab2 |
C |
T |
7: 96,948,465 (GRCm39) |
P352S |
probably damaging |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gulo |
G |
T |
14: 66,243,398 (GRCm39) |
A40D |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,266,204 (GRCm39) |
I671V |
probably benign |
Het |
Itgax |
T |
C |
7: 127,747,481 (GRCm39) |
V1028A |
possibly damaging |
Het |
Lamb3 |
T |
C |
1: 193,002,755 (GRCm39) |
C67R |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,235,868 (GRCm39) |
V1237E |
probably damaging |
Het |
Nat8 |
C |
T |
6: 85,807,579 (GRCm39) |
V185M |
probably benign |
Het |
Ninj2 |
A |
C |
6: 120,175,023 (GRCm39) |
T65P |
probably benign |
Het |
Nrg2 |
T |
C |
18: 36,154,271 (GRCm39) |
M549V |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,962,818 (GRCm39) |
M801V |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,170,875 (GRCm39) |
D589G |
probably damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,777,799 (GRCm39) |
V155E |
probably damaging |
Het |
Prss36 |
T |
A |
7: 127,544,099 (GRCm39) |
|
probably benign |
Het |
Raver2 |
A |
G |
4: 100,960,065 (GRCm39) |
K182E |
probably damaging |
Het |
Ring1 |
T |
G |
17: 34,241,983 (GRCm39) |
E142A |
possibly damaging |
Het |
Sidt2 |
T |
A |
9: 45,853,534 (GRCm39) |
M689L |
possibly damaging |
Het |
Slc45a4 |
A |
G |
15: 73,459,504 (GRCm39) |
V95A |
probably damaging |
Het |
Ssc5d |
T |
C |
7: 4,947,480 (GRCm39) |
V1278A |
possibly damaging |
Het |
Stk36 |
A |
T |
1: 74,673,861 (GRCm39) |
K1251N |
possibly damaging |
Het |
Utp14b |
T |
A |
1: 78,642,262 (GRCm39) |
S53R |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,575,858 (GRCm39) |
E243V |
probably benign |
Het |
|
Other mutations in Gckr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Gckr
|
APN |
5 |
31,456,920 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2012-04-20 |