Incidental Mutation 'R5520:Grk1'
| ID |
431507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk1
|
| Ensembl Gene |
ENSMUSG00000031450 |
| Gene Name |
G protein-coupled receptor kinase 1 |
| Synonyms |
Rhok, RK |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
13455081-13471951 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13459305 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 285
(D285E)
|
| 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: D285E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033827
Gene: ENSMUSG00000031450
AA Change: D285E
| 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: D285E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211027
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cc2d1b |
T |
C |
4: 108,483,556 (GRCm39) |
M331T |
possibly damaging |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
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 |
|
|
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 |
|
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 |
|
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'- CTTCTCCAGGGAAGCATTGATG -3'
(R):5'- TCCTTCAGTGACTTTCAACGAGG -3'
Sequencing Primer
(F):5'- ATTGATGCCTGGTCCCAAG -3'
(R):5'- TGACTTTCAACGAGGCTGAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation