Incidental Mutation 'IGL01780:Gckr'
| ID |
154145 |
| 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 # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31465134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 368
(H368N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072228]
[ENSMUST00000201166]
|
| AlphaFold |
Q91X44 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072228
AA Change: H368N
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: H368N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201166
AA Change: H368N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: H368N
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rpusd4 |
G |
A |
9: 35,179,720 (GRCm39) |
R71Q |
probably damaging |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
probably damaging |
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation