Incidental Mutation 'R1600:Grk1'
ID |
176095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grk1
|
Ensembl Gene |
ENSMUSG00000031450 |
Gene Name |
G protein-coupled receptor kinase 1 |
Synonyms |
Rhok, RK |
MMRRC Submission |
039637-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1600 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13455406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 97
(T97A)
|
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: T97A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000033827 Gene: ENSMUSG00000031450 AA Change: T97A
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: T97A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211027
|
Meta Mutation Damage Score |
0.1419 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
Validation Efficiency |
85% (41/48) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
C |
14: 54,881,174 (GRCm39) |
|
probably benign |
Het |
Acot3 |
C |
T |
12: 84,105,484 (GRCm39) |
A317V |
probably benign |
Het |
Ahrr |
T |
C |
13: 74,362,497 (GRCm39) |
D334G |
probably benign |
Het |
Alpk2 |
C |
T |
18: 65,511,108 (GRCm39) |
V30M |
probably damaging |
Het |
Arhgef25 |
G |
T |
10: 127,021,158 (GRCm39) |
H281N |
probably damaging |
Het |
B3gntl1 |
A |
G |
11: 121,521,662 (GRCm39) |
M175T |
probably damaging |
Het |
Brca2 |
T |
A |
5: 150,484,295 (GRCm39) |
|
probably benign |
Het |
Ccnj |
A |
T |
19: 40,833,101 (GRCm39) |
|
probably benign |
Het |
Cebpzos |
A |
G |
17: 79,225,817 (GRCm39) |
K11E |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,655,274 (GRCm39) |
S816P |
probably damaging |
Het |
Cul4a |
A |
G |
8: 13,173,954 (GRCm39) |
R64G |
probably damaging |
Het |
Cul7 |
C |
A |
17: 46,962,748 (GRCm39) |
C126* |
probably null |
Het |
Ercc2 |
T |
C |
7: 19,119,866 (GRCm39) |
Y176H |
probably benign |
Het |
Frem2 |
T |
G |
3: 53,455,144 (GRCm39) |
D2144A |
probably damaging |
Het |
Gabrg3 |
A |
T |
7: 56,384,822 (GRCm39) |
Y246* |
probably null |
Het |
Gpatch2l |
T |
C |
12: 86,303,708 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
G |
2: 31,320,799 (GRCm39) |
E4004G |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,339,821 (GRCm39) |
R46S |
probably damaging |
Het |
Lrrfip1 |
T |
C |
1: 91,042,389 (GRCm39) |
S265P |
probably damaging |
Het |
Lyve1 |
A |
G |
7: 110,452,902 (GRCm39) |
|
probably null |
Het |
Mme |
A |
G |
3: 63,272,479 (GRCm39) |
Y659C |
probably damaging |
Het |
Mrs2 |
G |
T |
13: 25,179,393 (GRCm39) |
N299K |
possibly damaging |
Het |
Mtnr1b |
T |
C |
9: 15,774,615 (GRCm39) |
Y148C |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,846,611 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,161,616 (GRCm39) |
Y2059H |
probably damaging |
Het |
Nkain3 |
T |
C |
4: 20,469,528 (GRCm39) |
|
probably benign |
Het |
Peg10 |
A |
T |
6: 4,757,080 (GRCm39) |
|
probably benign |
Het |
Pramel20 |
A |
G |
4: 143,298,537 (GRCm39) |
E160G |
possibly damaging |
Het |
Rufy2 |
A |
G |
10: 62,842,450 (GRCm39) |
T458A |
probably benign |
Het |
Sec14l1 |
G |
A |
11: 117,041,430 (GRCm39) |
V448I |
probably benign |
Het |
Tbx19 |
C |
T |
1: 164,970,136 (GRCm39) |
G251D |
possibly damaging |
Het |
Tcstv7b |
T |
C |
13: 120,702,369 (GRCm39) |
V55A |
probably benign |
Het |
Trappc9 |
G |
A |
15: 72,808,958 (GRCm39) |
Q711* |
probably null |
Het |
Trpm3 |
A |
G |
19: 22,116,519 (GRCm39) |
R13G |
probably benign |
Het |
Usp33 |
G |
T |
3: 152,085,247 (GRCm39) |
A628S |
probably damaging |
Het |
Vps13a |
T |
C |
19: 16,643,636 (GRCm39) |
N2080S |
probably benign |
Het |
Wdr45b |
A |
T |
11: 121,221,015 (GRCm39) |
I221N |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,175,355 (GRCm39) |
W47R |
possibly damaging |
Het |
Zswim9 |
A |
G |
7: 13,003,497 (GRCm39) |
C118R |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGTTTTGACGGAAGCAGCACAC -3'
(R):5'- TCATCTGACAGGCAGACACTTCCC -3'
Sequencing Primer
(F):5'- GTCTTCCCGAGACAAGAAATATCTG -3'
(R):5'- CAAGTGCTCCATTGTGGC -3'
|
Posted On |
2014-04-24 |