Incidental Mutation 'IGL02350:Gckr'
ID |
289733 |
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 # |
IGL02350
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
Adamts16 |
T |
A |
13: 70,886,704 (GRCm39) |
T1029S |
probably benign |
Het |
Adgrv1 |
C |
A |
13: 81,418,974 (GRCm39) |
C6007F |
probably benign |
Het |
Ak8 |
A |
T |
2: 28,590,225 (GRCm39) |
H8L |
probably benign |
Het |
Apol7b |
A |
G |
15: 77,307,832 (GRCm39) |
V221A |
probably benign |
Het |
BC005624 |
G |
A |
2: 30,863,779 (GRCm39) |
P235S |
probably benign |
Het |
Cd96 |
A |
G |
16: 45,890,139 (GRCm39) |
|
probably benign |
Het |
Celf1 |
A |
T |
2: 90,828,933 (GRCm39) |
K27I |
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 |
Cyp3a59 |
T |
C |
5: 146,016,152 (GRCm39) |
L3P |
probably damaging |
Het |
Dnajc13 |
T |
C |
9: 104,039,558 (GRCm39) |
M2104V |
possibly damaging |
Het |
Dph3b-ps |
A |
G |
13: 106,683,453 (GRCm39) |
|
noncoding transcript |
Het |
Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
G |
T |
18: 58,237,067 (GRCm39) |
N645K |
possibly damaging |
Het |
Fes |
T |
C |
7: 80,033,578 (GRCm39) |
|
probably null |
Het |
Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
Gm5145 |
A |
T |
17: 20,790,702 (GRCm39) |
I27F |
probably damaging |
Het |
Hecw1 |
A |
G |
13: 14,422,923 (GRCm39) |
|
probably null |
Het |
Hivep3 |
T |
G |
4: 119,980,222 (GRCm39) |
C1753W |
probably damaging |
Het |
Hook2 |
C |
T |
8: 85,721,614 (GRCm39) |
Q291* |
probably null |
Het |
Jakmip2 |
T |
C |
18: 43,680,192 (GRCm39) |
T722A |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
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 |
Ngdn |
T |
A |
14: 55,259,393 (GRCm39) |
V179E |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
Or10am5 |
T |
A |
7: 6,518,225 (GRCm39) |
M68L |
probably damaging |
Het |
Or2b7 |
A |
G |
13: 21,739,772 (GRCm39) |
L140P |
probably damaging |
Het |
Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
Plcb3 |
A |
C |
19: 6,935,546 (GRCm39) |
L789R |
probably damaging |
Het |
Plek |
C |
T |
11: 16,931,846 (GRCm39) |
R335H |
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 |
Rusc2 |
T |
G |
4: 43,425,351 (GRCm39) |
V1152G |
possibly damaging |
Het |
Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
Slc22a22 |
A |
G |
15: 57,110,844 (GRCm39) |
V461A |
probably benign |
Het |
Slc35e4 |
C |
T |
11: 3,862,640 (GRCm39) |
R183Q |
probably benign |
Het |
Spen |
T |
C |
4: 141,204,890 (GRCm39) |
T1246A |
unknown |
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 |
Ttn |
A |
G |
2: 76,539,963 (GRCm39) |
V34341A |
probably benign |
Het |
Vxn |
T |
C |
1: 9,683,544 (GRCm39) |
I44T |
possibly damaging |
Het |
Wwox |
T |
C |
8: 115,438,882 (GRCm39) |
V316A |
possibly 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 |
|
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 |
|
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 |
2015-04-16 |