Incidental Mutation 'IGL00501:Grk1'
| ID |
5067 |
| 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 # |
IGL00501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13457835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 245
(V245E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147484
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033827]
[ENSMUST00000209909]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033827
AA Change: V245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: V245E
| 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 damaging
Transcript: ENSMUST00000209909
AA Change: V245E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
| Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
| Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
| H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
| Klhdc8b |
C |
T |
9: 108,326,105 (GRCm39) |
R263H |
probably benign |
Het |
| Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
| Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
| Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
possibly damaging |
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 |
|
|
IGL00772:Grk1
|
APN |
8 |
13,455,349 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation