Incidental Mutation 'IGL00905:Grk1'
| ID |
27988 |
| 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 # |
IGL00905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13466068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 504
(E504G)
|
| 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: E504G
PolyPhen 2
Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: E504G
| 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: E504G
PolyPhen 2
Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg16l2 |
T |
C |
7: 100,949,373 (GRCm39) |
E58G |
probably damaging |
Het |
| D130040H23Rik |
A |
T |
8: 69,753,422 (GRCm39) |
K16I |
possibly damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,055,332 (GRCm39) |
T602A |
possibly damaging |
Het |
| Fam161b |
C |
T |
12: 84,404,459 (GRCm39) |
V74I |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,189,744 (GRCm39) |
|
probably null |
Het |
| Map1s |
A |
G |
8: 71,358,673 (GRCm39) |
|
probably benign |
Het |
| Mprip |
T |
C |
11: 59,662,994 (GRCm39) |
V982A |
possibly damaging |
Het |
| Or5aq1b |
A |
G |
2: 86,901,563 (GRCm39) |
I305T |
probably benign |
Het |
| Or8g19 |
T |
G |
9: 39,056,326 (GRCm39) |
F310C |
probably damaging |
Het |
| Phf1 |
A |
T |
17: 27,155,568 (GRCm39) |
R378W |
possibly damaging |
Het |
| Pramel25 |
A |
G |
4: 143,521,844 (GRCm39) |
T487A |
probably benign |
Het |
| Ptpn3 |
A |
T |
4: 57,270,050 (GRCm39) |
D37E |
possibly damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,465,754 (GRCm39) |
S366G |
probably benign |
Het |
| Scn5a |
C |
A |
9: 119,365,567 (GRCm39) |
W360L |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,936,839 (GRCm39) |
F398S |
probably damaging |
Het |
| Slc25a47 |
C |
A |
12: 108,821,314 (GRCm39) |
T141K |
probably benign |
Het |
| Slc9a1 |
T |
A |
4: 133,097,859 (GRCm39) |
M2K |
probably benign |
Het |
| Tango6 |
G |
T |
8: 107,469,104 (GRCm39) |
|
probably null |
Het |
| Tmem231 |
A |
T |
8: 112,645,072 (GRCm39) |
|
probably benign |
Het |
| Tnr |
G |
A |
1: 159,679,752 (GRCm39) |
R242Q |
probably benign |
Het |
| Usp5 |
G |
A |
6: 124,792,576 (GRCm39) |
P821S |
probably damaging |
Het |
| Utp11 |
G |
T |
4: 124,577,586 (GRCm39) |
P63Q |
probably damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,789 (GRCm39) |
N128K |
probably 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 |
|
|
IGL00501:Grk1
|
APN |
8 |
13,457,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00772:Grk1
|
APN |
8 |
13,455,349 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation