Incidental Mutation 'IGL02803:Gckr'
| ID |
360310 |
| 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 # |
IGL02803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31455548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041266]
[ENSMUST00000072228]
[ENSMUST00000172435]
[ENSMUST00000201166]
[ENSMUST00000201417]
[ENSMUST00000201675]
[ENSMUST00000202158]
[ENSMUST00000202615]
|
| AlphaFold |
Q91X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041266
|
| SMART Domains |
Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
43 |
123 |
4.35e-11 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072228
AA Change: S34P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172435
|
| SMART Domains |
Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
43 |
123 |
4.35e-11 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200845
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201166
AA Change: S34P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
620 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201417
|
| SMART Domains |
Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
FN3
|
43 |
118 |
9.4e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201675
AA Change: S34P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434
AA Change: S34P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
120 |
7e-64 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202456
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202158
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202615
|
| SMART Domains |
Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
40 |
N/A |
INTRINSIC |
|
FN3
|
43 |
123 |
2.2e-13 |
SMART |
|
transmembrane domain
|
161 |
183 |
N/A |
INTRINSIC |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
C |
T |
12: 37,302,480 (GRCm39) |
L106F |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,673,473 (GRCm39) |
I208T |
possibly damaging |
Het |
| Arap2 |
G |
T |
5: 62,906,452 (GRCm39) |
A189D |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,883,324 (GRCm39) |
K1402E |
possibly damaging |
Het |
| C7 |
A |
C |
15: 5,079,042 (GRCm39) |
F89V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,861 (GRCm39) |
T877I |
probably damaging |
Het |
| Cpt2 |
T |
C |
4: 107,764,583 (GRCm39) |
T394A |
probably benign |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,875,078 (GRCm39) |
T2528N |
probably damaging |
Het |
| Entpd8 |
G |
T |
2: 24,975,151 (GRCm39) |
W494L |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,163,135 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,444 (GRCm39) |
V779A |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,364,528 (GRCm39) |
V297A |
probably benign |
Het |
| Gpr65 |
T |
C |
12: 98,241,469 (GRCm39) |
S41P |
probably damaging |
Het |
| Gps1 |
G |
T |
11: 120,677,649 (GRCm39) |
A221S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,448,867 (GRCm39) |
S1861T |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,902,711 (GRCm39) |
E184G |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,452,140 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
C |
T |
16: 13,221,020 (GRCm39) |
T743I |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,291 (GRCm39) |
S284G |
possibly damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,331,317 (GRCm39) |
A360S |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,987,533 (GRCm39) |
H298R |
probably benign |
Het |
| Or5an1 |
A |
T |
19: 12,261,347 (GRCm39) |
S312C |
possibly damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,321 (GRCm39) |
V91E |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,287 (GRCm39) |
D192G |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,170,006 (GRCm39) |
M158V |
probably benign |
Het |
| Patj |
C |
A |
4: 98,314,301 (GRCm39) |
Q374K |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,797 (GRCm39) |
G289W |
probably damaging |
Het |
| Phkg1 |
T |
G |
5: 129,894,895 (GRCm39) |
I219L |
possibly damaging |
Het |
| Ppp1r15b |
G |
A |
1: 133,061,081 (GRCm39) |
A533T |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,350,192 (GRCm39) |
I398V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,530 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,260,212 (GRCm39) |
L229F |
possibly damaging |
Het |
| Rps6ka1 |
T |
A |
4: 133,608,265 (GRCm39) |
Q24L |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,949,273 (GRCm39) |
I147T |
possibly damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,062,387 (GRCm39) |
I159N |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,572,526 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,541,714 (GRCm39) |
I347V |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,016,713 (GRCm39) |
M2163L |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,786,133 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
G |
A |
7: 14,145,630 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,078,320 (GRCm39) |
L4718P |
probably damaging |
Het |
| Timd4 |
G |
T |
11: 46,706,521 (GRCm39) |
G108W |
probably damaging |
Het |
| Timm9 |
T |
C |
12: 71,173,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,275 (GRCm39) |
V258I |
probably benign |
Het |
| Zcchc9 |
C |
T |
13: 91,949,000 (GRCm39) |
V174I |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,342,236 (GRCm39) |
V205A |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation