Incidental Mutation 'IGL02600:Gckr'
| ID |
300046 |
| 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 # |
IGL02600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31462374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 236
(M236V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072228]
[ENSMUST00000201166]
[ENSMUST00000201675]
|
| AlphaFold |
Q91X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072228
AA Change: M236V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: M236V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201166
AA Change: M236V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: M236V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
620 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201675
|
| SMART Domains |
Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
120 |
7e-64 |
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,200,264 (GRCm39) |
I483L |
probably benign |
Het |
| Bmpr1b |
A |
C |
3: 141,546,488 (GRCm39) |
M466R |
probably damaging |
Het |
| Casp8ap2 |
G |
A |
4: 32,630,246 (GRCm39) |
D42N |
probably null |
Het |
| Crebbp |
T |
A |
16: 3,972,882 (GRCm39) |
T271S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,868,124 (GRCm39) |
H319R |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,923,314 (GRCm39) |
D263V |
possibly damaging |
Het |
| Gm28044 |
A |
C |
13: 67,469,025 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,781,641 (GRCm39) |
|
probably benign |
Het |
| Gpx3 |
C |
A |
11: 54,800,433 (GRCm39) |
D210E |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,545,693 (GRCm39) |
N513S |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,974,227 (GRCm39) |
R170C |
probably damaging |
Het |
| Nrxn3 |
G |
T |
12: 89,478,682 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,101,449 (GRCm39) |
I373V |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,998,862 (GRCm39) |
T275A |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,570,756 (GRCm39) |
I265T |
possibly damaging |
Het |
| Padi3 |
A |
G |
4: 140,525,467 (GRCm39) |
V172A |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,411,105 (GRCm39) |
G554W |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,347,563 (GRCm39) |
R464* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Serinc1 |
A |
G |
10: 57,399,127 (GRCm39) |
S259P |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,077,832 (GRCm39) |
S207T |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,790,123 (GRCm39) |
G548R |
probably damaging |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,052 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,570,509 (GRCm39) |
P26795S |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,829 (GRCm39) |
M661V |
probably benign |
Het |
| Ybey |
G |
A |
10: 76,300,165 (GRCm39) |
|
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,194,196 (GRCm39) |
D715G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,394,623 (GRCm39) |
|
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 |
|
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 |
|
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 |
Incidental Mutation