Incidental Mutation 'IGL02110:Gckr'
| ID |
280064 |
| 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 # |
IGL02110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31456082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 81
(T81S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041266]
[ENSMUST00000072228]
[ENSMUST00000172435]
[ENSMUST00000201166]
[ENSMUST00000201417]
[ENSMUST00000201675]
[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 |
possibly damaging
Transcript: ENSMUST00000072228
AA Change: T81S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: T81S
| 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 |
possibly damaging
Transcript: ENSMUST00000201166
AA Change: T81S
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: T81S
| 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 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: ENSMUST00000202456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202312
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
A |
G |
15: 77,598,548 (GRCm39) |
|
probably null |
Het |
| Arhgef40 |
C |
T |
14: 52,226,862 (GRCm39) |
T302M |
probably damaging |
Het |
| Bap1 |
T |
C |
14: 30,979,371 (GRCm39) |
L458P |
probably damaging |
Het |
| Bbs12 |
A |
G |
3: 37,373,336 (GRCm39) |
E43G |
probably benign |
Het |
| Bod1l |
C |
T |
5: 41,973,796 (GRCm39) |
C2506Y |
probably damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,491,885 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
A |
G |
5: 24,796,710 (GRCm39) |
E552G |
probably damaging |
Het |
| Comp |
T |
A |
8: 70,826,289 (GRCm39) |
I23N |
probably benign |
Het |
| Cxcl2 |
T |
C |
5: 91,052,211 (GRCm39) |
|
probably benign |
Het |
| Dctn5 |
T |
C |
7: 121,734,374 (GRCm39) |
F73L |
probably damaging |
Het |
| Ddx5 |
T |
C |
11: 106,675,835 (GRCm39) |
E285G |
probably damaging |
Het |
| Ddx60 |
T |
G |
8: 62,470,281 (GRCm39) |
|
probably null |
Het |
| Dhcr24 |
T |
A |
4: 106,430,998 (GRCm39) |
I229N |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,450,739 (GRCm39) |
T3897I |
possibly damaging |
Het |
| Dvl2 |
T |
A |
11: 69,898,842 (GRCm39) |
|
probably benign |
Het |
| Dytn |
A |
T |
1: 63,686,632 (GRCm39) |
V346E |
possibly damaging |
Het |
| Eepd1 |
T |
C |
9: 25,514,698 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,211,084 (GRCm39) |
A343S |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,982,066 (GRCm39) |
|
probably null |
Het |
| Gm6139 |
T |
A |
5: 129,700,656 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
T |
2: 132,372,530 (GRCm39) |
C657* |
probably null |
Het |
| Greb1l |
A |
G |
18: 10,515,271 (GRCm39) |
I89V |
probably damaging |
Het |
| Hdac4 |
G |
A |
1: 91,912,127 (GRCm39) |
P421S |
probably benign |
Het |
| Iqca1l |
A |
G |
5: 24,753,082 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,374,039 (GRCm39) |
L669P |
probably benign |
Het |
| Mios |
A |
G |
6: 8,215,565 (GRCm39) |
R254G |
probably damaging |
Het |
| Mmp19 |
A |
G |
10: 128,630,727 (GRCm39) |
N116D |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,401,453 (GRCm39) |
C566* |
probably null |
Het |
| Nadsyn1 |
T |
C |
7: 143,367,164 (GRCm39) |
Y141C |
probably damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,491 (GRCm39) |
|
noncoding transcript |
Het |
| Nob1 |
A |
T |
8: 108,142,804 (GRCm39) |
*160R |
probably null |
Het |
| Or10ac1 |
A |
G |
6: 42,515,113 (GRCm39) |
V281A |
possibly damaging |
Het |
| Or1f12 |
T |
A |
13: 21,722,112 (GRCm39) |
Q21L |
possibly damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,697 (GRCm39) |
T228A |
probably benign |
Het |
| Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or51s1 |
C |
T |
7: 102,558,402 (GRCm39) |
V215I |
probably benign |
Het |
| Or56b1b |
C |
A |
7: 108,164,286 (GRCm39) |
A239S |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,298,994 (GRCm39) |
D658G |
possibly damaging |
Het |
| Pitx2 |
T |
G |
3: 129,012,466 (GRCm39) |
S299A |
probably damaging |
Het |
| Plekha7 |
C |
A |
7: 115,753,863 (GRCm39) |
|
probably null |
Het |
| Ptgfr |
A |
G |
3: 151,541,097 (GRCm39) |
V137A |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,167,108 (GRCm39) |
|
probably benign |
Het |
| Rasl2-9 |
C |
T |
7: 5,128,346 (GRCm39) |
A195T |
probably benign |
Het |
| Ripor3 |
T |
A |
2: 167,836,626 (GRCm39) |
Q121L |
possibly damaging |
Het |
| Sgsh |
G |
T |
11: 119,243,632 (GRCm39) |
A30E |
probably damaging |
Het |
| Sis |
G |
T |
3: 72,836,032 (GRCm39) |
C852* |
probably null |
Het |
| Slc17a9 |
A |
G |
2: 180,374,369 (GRCm39) |
|
probably benign |
Het |
| Slco6b1 |
A |
T |
1: 96,915,607 (GRCm39) |
|
noncoding transcript |
Het |
| Smarca2 |
A |
G |
19: 26,650,140 (GRCm39) |
Y704C |
possibly damaging |
Het |
| Spata6 |
A |
T |
4: 111,642,003 (GRCm39) |
H291L |
possibly damaging |
Het |
| Stra8 |
T |
C |
6: 34,907,289 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
T |
C |
7: 140,982,647 (GRCm39) |
|
probably benign |
Het |
| Tmco6 |
T |
C |
18: 36,868,219 (GRCm39) |
|
probably benign |
Het |
| Tmpo |
A |
C |
10: 90,998,727 (GRCm39) |
S353R |
probably damaging |
Het |
| Tpr |
A |
T |
1: 150,311,493 (GRCm39) |
Q1757L |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,899,754 (GRCm39) |
|
probably benign |
Het |
| Vmn2r83 |
T |
C |
10: 79,327,534 (GRCm39) |
V714A |
possibly damaging |
Het |
| Zfp407 |
G |
T |
18: 84,577,165 (GRCm39) |
A1316D |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,803,938 (GRCm39) |
I2560N |
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 |
|
|
IGL01780:Gckr
|
APN |
5 |
31,465,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
2015-04-16 |
Incidental Mutation