Incidental Mutation 'R3764:Gckr'
| ID |
271805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gckr
|
| Ensembl Gene |
ENSMUSG00000059434 |
| Gene Name |
glucokinase regulatory protein |
| Synonyms |
GKRP |
| MMRRC Submission |
040741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31454787-31484658 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 31483842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072228]
[ENSMUST00000201166]
|
| AlphaFold |
Q91X44 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072228
|
| SMART Domains |
Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
584 |
N/A |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201166
|
| SMART Domains |
Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LC9|A
|
1 |
620 |
N/A |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202242
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202909
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (29/29) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
G |
A |
17: 14,066,851 (GRCm39) |
A648T |
probably benign |
Het |
| Cadm3 |
C |
T |
1: 173,174,064 (GRCm39) |
V50I |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,940,698 (GRCm39) |
T687S |
unknown |
Het |
| Cubn |
T |
A |
2: 13,336,396 (GRCm39) |
I2477F |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Eif4e3 |
C |
T |
6: 99,617,586 (GRCm39) |
R95Q |
probably damaging |
Het |
| Fmo5 |
T |
C |
3: 97,553,033 (GRCm39) |
I327T |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,357,756 (GRCm39) |
V129A |
probably damaging |
Het |
| Gsdma |
A |
T |
11: 98,561,593 (GRCm39) |
N191I |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,207 (GRCm39) |
K135E |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,326,680 (GRCm39) |
E1797G |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,421,712 (GRCm39) |
Y513C |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,622,474 (GRCm39) |
|
probably benign |
Het |
| Pate8 |
A |
T |
9: 36,493,114 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Spsb2 |
T |
C |
6: 124,786,518 (GRCm39) |
Y84H |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,426,685 (GRCm39) |
I36T |
probably damaging |
Het |
| Try10 |
C |
T |
6: 41,333,458 (GRCm39) |
R68C |
probably benign |
Het |
| Tut7 |
T |
A |
13: 59,948,194 (GRCm39) |
E307V |
probably damaging |
Het |
| Ube3c |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 29,842,584 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
A |
T |
6: 3,588,063 (GRCm39) |
I679F |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,343,629 (GRCm39) |
T546I |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,396,101 (GRCm39) |
H94L |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCTGTGACACGATGTTCAG -3'
(R):5'- AACAGAAGACCCCTTGTTGG -3'
Sequencing Primer
(F):5'- GACACGATGTTCAGTTCTCCTAGG -3'
(R):5'- ACAAGCCTCCAAATGGGA -3'
|
| Genotyping |
Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation. PCR Primers
R37640011_PCR_F: 5’- CTTTCCTGTGACACGATGTTCAG-3’
R37640011_PCR_R: 5’- AACAGAAGACCCCTTGTTGG-3’ Sequencing Primers
R37640011_SEQ_F: 5’- GACACGATGTTCAGTTCTCCTAGG-3’
R37640011_SEQ_R: 5’- ACAAGCCTCCAAATGGGA-3’
PCR program
1) 94°C 2:00
2) 94°C 0:30
3) 55°C 0:30
4) 72°C 1:00
5) repeat steps (2-4) 40X
6) 72°C 10:00
7) 4°C hold The following sequence of 400 nucleotides is amplified (NCBI RefSeq: NC_000071, chromosome 5:31326298-31326697): ctttcctgtg acacgatgtt cagttctcct aggcatctac ctcattgctt cttcctcaga
ggttctcagg acagtccaag gctcgctgca ttgagagtct tcttcaagtg atacatttcc
ctcaaccgct gtcgaatgat gtccgcgcgg cccccatctc ctgccatgtc caggttgccc
acgagaagga aaaggtaccc ttccccggct ggctgttcaa taaactcttt ctgagaatct
taagcaactt cggacaccga gtttacaaag ctcagagata ccctgttact tggagctccc
atttggaggc ttgtatggat ggagtagggg tggggtgagg aggtacgact gtgacagaag
ctacagaagc aaaaaagata ccaacaaggg gtcttctgtt Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = T>A).
|
| Posted On |
2015-03-25 |
Incidental Mutation