Incidental Mutation 'R9803:Gckr'
| ID |
735306 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gckr
|
| Ensembl Gene |
ENSMUSG00000059434 |
| Gene Name |
glucokinase regulatory protein |
| Synonyms |
GKRP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31457368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 127
(G127D)
|
| 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 |
probably damaging
Transcript: ENSMUST00000072228
AA Change: G127D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
AA Change: G127D
| 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 |
probably damaging
Transcript: ENSMUST00000201166
AA Change: G127D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
AA Change: G127D
| 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: G104D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434
AA Change: G104D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
120 |
7e-64 |
PDB |
|
| 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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700069L16Rik |
A |
G |
5: 113,841,964 (GRCm39) |
S52P |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,752,726 (GRCm39) |
M330T |
possibly damaging |
Het |
| Ankar |
C |
T |
1: 72,698,340 (GRCm39) |
V905I |
possibly damaging |
Het |
| Anln |
G |
T |
9: 22,283,518 (GRCm39) |
D438E |
probably damaging |
Het |
| C1ql3 |
T |
C |
2: 13,009,200 (GRCm39) |
N215S |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,395,626 (GRCm39) |
S506G |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,175 (GRCm39) |
T556A |
probably benign |
Het |
| Cma1 |
A |
T |
14: 56,179,186 (GRCm39) |
N236K |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,262,986 (GRCm39) |
F724S |
|
Het |
| Cts8 |
T |
C |
13: 61,401,136 (GRCm39) |
K130R |
possibly damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,922 (GRCm39) |
T179S |
unknown |
Het |
| Fancd2os |
T |
C |
6: 113,574,938 (GRCm39) |
T23A |
possibly damaging |
Het |
| Gbgt1 |
T |
A |
2: 28,394,866 (GRCm39) |
I168N |
probably damaging |
Het |
| Gm11444 |
G |
A |
11: 85,737,699 (GRCm39) |
Q164* |
probably null |
Het |
| Gm28042 |
T |
A |
2: 119,868,984 (GRCm39) |
V526E |
possibly damaging |
Het |
| Gm8947 |
T |
C |
1: 151,068,722 (GRCm39) |
V185A |
possibly damaging |
Het |
| Hoxd13 |
C |
A |
2: 74,499,247 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Hps6 |
T |
A |
19: 45,993,947 (GRCm39) |
L628* |
probably null |
Het |
| Igha |
G |
A |
12: 113,222,759 (GRCm39) |
H221Y |
|
Het |
| Ighm |
A |
G |
12: 113,382,635 (GRCm39) |
S453P |
|
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Lfng |
A |
G |
5: 140,593,528 (GRCm39) |
T120A |
probably damaging |
Het |
| Lrrc4 |
C |
T |
6: 28,662,199 (GRCm39) |
A172T |
probably benign |
Het |
| Lrrc56 |
A |
G |
7: 140,787,520 (GRCm39) |
T386A |
probably benign |
Het |
| Mapkbp1 |
A |
T |
2: 119,841,256 (GRCm39) |
H81L |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mrto4 |
T |
A |
4: 139,076,381 (GRCm39) |
N70I |
probably damaging |
Het |
| Mxra8 |
C |
T |
4: 155,924,282 (GRCm39) |
|
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,483,997 (GRCm39) |
E548G |
|
Het |
| Ncan |
C |
T |
8: 70,560,751 (GRCm39) |
D739N |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,595 (GRCm39) |
V214A |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,259,563 (GRCm39) |
T215A |
possibly damaging |
Het |
| Pcdhgb7 |
T |
A |
18: 37,885,088 (GRCm39) |
V86E |
probably damaging |
Het |
| Pclo |
G |
A |
5: 14,762,629 (GRCm39) |
V416M |
|
Het |
| Phf3 |
G |
T |
1: 30,869,872 (GRCm39) |
T392K |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,637,073 (GRCm39) |
V379E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,990,539 (GRCm39) |
Y1080C |
probably benign |
Het |
| Ptprs |
C |
A |
17: 56,729,217 (GRCm39) |
G1254C |
probably damaging |
Het |
| Qsox1 |
A |
T |
1: 155,658,416 (GRCm39) |
D384E |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,477,761 (GRCm39) |
F23L |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Sidt2 |
A |
G |
9: 45,854,912 (GRCm39) |
Y588H |
probably damaging |
Het |
| Tas2r139 |
T |
A |
6: 42,118,066 (GRCm39) |
I66K |
probably damaging |
Het |
| Tbc1d30 |
T |
A |
10: 121,107,980 (GRCm39) |
D474V |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,685 (GRCm39) |
G100D |
probably damaging |
Het |
| Tmem258 |
G |
A |
19: 10,184,637 (GRCm39) |
V75I |
probably benign |
Het |
| Tmem91 |
G |
T |
7: 25,369,988 (GRCm39) |
H95N |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,710,090 (GRCm39) |
K87E |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,920,680 (GRCm39) |
M209K |
probably benign |
Het |
| Tspan17 |
C |
A |
13: 54,941,092 (GRCm39) |
Q124K |
probably benign |
Het |
| Uts2b |
G |
A |
16: 27,179,692 (GRCm39) |
R105* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,803,730 (GRCm39) |
T282S |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,229,455 (GRCm39) |
M333L |
probably benign |
Het |
| Zbtb3 |
A |
G |
19: 8,781,833 (GRCm39) |
E482G |
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 |
|
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 |
|
|
Z1176:Gckr
|
UTSW |
5 |
31,458,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTTAAGTGGCGGACTCC -3'
(R):5'- TGTTGGAGACTAAGGCAGGTTC -3'
Sequencing Primer
(F):5'- CTTTAAGTGGCGGACTCCAAACAAG -3'
(R):5'- TGTAATGGGATCCAATGCCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation