Incidental Mutation 'IGL00772:Grk1'
| ID |
13523 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grk1
|
| Ensembl Gene |
ENSMUSG00000031450 |
| Gene Name |
G protein-coupled receptor kinase 1 |
| Synonyms |
Rhok, RK |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13455349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 78
(T78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033827]
[ENSMUST00000209909]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033827
AA Change: T78A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: T78A
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
57 |
175 |
7.34e-35 |
SMART |
|
S_TKc
|
190 |
455 |
3.42e-81 |
SMART |
|
S_TK_X
|
456 |
535 |
3.21e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209909
AA Change: T78A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211027
|
| 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 member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates rhodopsin and initiates its deactivation. Defects in GRK1 are known to cause Oguchi disease 2 (also known as stationary night blindness Oguchi type-2). [provided by RefSeq, Jul 2008]
PHENOTYPE: Analysis of homozygous null mice revealed abnormal photoresponses and light-induced apoptosis in rods. Mutant mice may serve as models of Oguchi disease and retinal degeneration. [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 |
|---|
| Als2 |
A |
T |
1: 59,209,055 (GRCm39) |
C1501* |
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,121,697 (GRCm39) |
E513G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,876,982 (GRCm39) |
D119G |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,735,060 (GRCm39) |
|
probably benign |
Het |
| Cobl |
A |
G |
11: 12,216,985 (GRCm39) |
M419T |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,977 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
A |
C |
11: 69,342,083 (GRCm39) |
Y2968D |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| Folh1 |
A |
G |
7: 86,380,992 (GRCm39) |
S494P |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,783,971 (GRCm39) |
I825N |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,347,254 (GRCm39) |
|
probably benign |
Het |
| Mak |
A |
T |
13: 41,209,296 (GRCm39) |
|
probably benign |
Het |
| Prkd1 |
T |
C |
12: 50,430,199 (GRCm39) |
E636G |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,017,920 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
G |
A |
14: 65,908,011 (GRCm39) |
|
probably benign |
Het |
| Skint8 |
A |
G |
4: 111,796,120 (GRCm39) |
I265V |
probably benign |
Het |
| Slc48a1 |
A |
G |
15: 97,687,835 (GRCm39) |
Y63C |
probably damaging |
Het |
| Slc4a2 |
G |
T |
5: 24,640,194 (GRCm39) |
V598L |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,758,893 (GRCm39) |
K565* |
probably null |
Het |
| Spink5 |
A |
G |
18: 44,139,487 (GRCm39) |
I617V |
probably benign |
Het |
| Tmed11 |
T |
C |
5: 108,934,031 (GRCm39) |
D55G |
probably benign |
Het |
| Tro |
A |
G |
X: 149,438,321 (GRCm39) |
V112A |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,524,929 (GRCm39) |
R2185C |
probably benign |
Het |
|
| Other mutations in Grk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Grk1
|
APN |
8 |
13,463,128 (GRCm39) |
nonsense |
probably null |
|
|
IGL00501:Grk1
|
APN |
8 |
13,457,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00905:Grk1
|
APN |
8 |
13,466,068 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL01116:Grk1
|
APN |
8 |
13,455,404 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01976:Grk1
|
APN |
8 |
13,465,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0463:Grk1
|
UTSW |
8 |
13,459,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1600:Grk1
|
UTSW |
8 |
13,455,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1838:Grk1
|
UTSW |
8 |
13,466,155 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1911:Grk1
|
UTSW |
8 |
13,457,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2122:Grk1
|
UTSW |
8 |
13,455,221 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4583:Grk1
|
UTSW |
8 |
13,459,322 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5347:Grk1
|
UTSW |
8 |
13,464,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Grk1
|
UTSW |
8 |
13,459,305 (GRCm39) |
missense |
probably benign |
|
|
R5682:Grk1
|
UTSW |
8 |
13,464,351 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6145:Grk1
|
UTSW |
8 |
13,455,765 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Grk1
|
UTSW |
8 |
13,455,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Grk1
|
UTSW |
8 |
13,463,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6717:Grk1
|
UTSW |
8 |
13,466,237 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7421:Grk1
|
UTSW |
8 |
13,455,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8401:Grk1
|
UTSW |
8 |
13,457,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8785:Grk1
|
UTSW |
8 |
13,458,058 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation