Incidental Mutation 'IGL01976:Grk1'
| ID |
182666 |
| 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 # |
IGL01976
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13465993 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 479
(V479A)
|
| 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: V479A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: V479A
| 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: V479A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
C |
6: 85,599,647 (GRCm39) |
V1960A |
possibly damaging |
Het |
| Asph |
A |
T |
4: 9,475,471 (GRCm39) |
N537K |
probably damaging |
Het |
| Bnip2 |
T |
C |
9: 69,908,116 (GRCm39) |
|
probably benign |
Het |
| Cc2d2a |
C |
A |
5: 43,840,457 (GRCm39) |
Q104K |
probably benign |
Het |
| Cd300ld |
A |
G |
11: 114,878,270 (GRCm39) |
S81P |
probably damaging |
Het |
| Clec4a1 |
T |
C |
6: 122,905,033 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
T |
C |
6: 88,199,508 (GRCm39) |
S15P |
probably damaging |
Het |
| Erp27 |
C |
A |
6: 136,896,987 (GRCm39) |
V72L |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,395 (GRCm39) |
T131A |
probably damaging |
Het |
| H2bc1 |
T |
A |
13: 24,117,982 (GRCm39) |
D53V |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,289,237 (GRCm39) |
D3784G |
probably damaging |
Het |
| Irf2 |
A |
T |
8: 47,260,260 (GRCm39) |
K26M |
probably damaging |
Het |
| Irx6 |
C |
A |
8: 93,402,717 (GRCm39) |
C27* |
probably null |
Het |
| Izumo1r |
C |
T |
9: 14,812,975 (GRCm39) |
C99Y |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,595,072 (GRCm39) |
T132S |
probably benign |
Het |
| Mmp13 |
C |
T |
9: 7,278,974 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,831,348 (GRCm39) |
R766Q |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,437,532 (GRCm39) |
L81P |
probably damaging |
Het |
| Nfat5 |
G |
A |
8: 108,094,191 (GRCm39) |
V793I |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,596 (GRCm39) |
V108A |
possibly damaging |
Het |
| Omd |
T |
A |
13: 49,743,119 (GRCm39) |
Y56* |
probably null |
Het |
| Or4b1d |
A |
G |
2: 89,969,268 (GRCm39) |
S72P |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,363 (GRCm39) |
N316S |
probably benign |
Het |
| Psmd9 |
A |
G |
5: 123,372,697 (GRCm39) |
E60G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,825 (GRCm39) |
E658G |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,701,720 (GRCm39) |
K1091* |
probably null |
Het |
| Supt16 |
A |
T |
14: 52,419,764 (GRCm39) |
N111K |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,793,799 (GRCm39) |
T3666A |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,095 (GRCm39) |
D8289G |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,643,438 (GRCm39) |
S4267T |
probably benign |
Het |
| Usp50 |
T |
A |
2: 126,551,386 (GRCm39) |
E31V |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation