Incidental Mutation 'R4320:Grk5'
| ID |
323798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk5
|
| Ensembl Gene |
ENSMUSG00000003228 |
| Gene Name |
G protein-coupled receptor kinase 5 |
| Synonyms |
Gprk5 |
| MMRRC Submission |
041661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4320 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
60878187-61084406 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 61080383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 576
(R576*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003313]
[ENSMUST00000122927]
|
| AlphaFold |
Q8VEB1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003313
AA Change: R576*
|
| SMART Domains |
Protein: ENSMUSP00000003313
Gene: ENSMUSG00000003228
AA Change: R576*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
31 |
N/A |
INTRINSIC |
|
RGS
|
52 |
171 |
1.21e-35 |
SMART |
|
S_TKc
|
186 |
448 |
9.44e-84 |
SMART |
|
S_TK_X
|
449 |
528 |
1.08e-9 |
SMART |
|
low complexity region
|
561 |
590 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122927
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (46/48) |
| 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 the activated forms of G protein-coupled receptors thus initiating their deactivation. It has also been shown to play a role in regulating the motility of polymorphonuclear leukocytes (PMNs). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a decrease in thermal pain sensation. Mice homozygous for a knock-out allele exhibit decreased response of heart to induced stress. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,740,076 (GRCm39) |
V826I |
possibly damaging |
Het |
| Arid4a |
T |
A |
12: 71,116,769 (GRCm39) |
I609N |
possibly damaging |
Het |
| Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,483,398 (GRCm39) |
M91K |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Cdh10 |
A |
G |
15: 18,985,251 (GRCm39) |
D305G |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,393 (GRCm39) |
L136P |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,661,200 (GRCm39) |
L361Q |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,051 (GRCm39) |
Y856S |
probably damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Htr1f |
T |
C |
16: 64,747,050 (GRCm39) |
I81V |
possibly damaging |
Het |
| Kprp |
G |
A |
3: 92,732,163 (GRCm39) |
R296W |
probably damaging |
Het |
| Mtf2 |
T |
A |
5: 108,234,891 (GRCm39) |
C3S |
probably damaging |
Het |
| Mtmr3 |
T |
C |
11: 4,437,947 (GRCm39) |
R836G |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,007,960 (GRCm39) |
N241D |
possibly damaging |
Het |
| Or12j2 |
T |
A |
7: 139,916,219 (GRCm39) |
I148N |
possibly damaging |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Or7g25 |
A |
C |
9: 19,160,052 (GRCm39) |
I214M |
probably damaging |
Het |
| Or7g28 |
G |
T |
9: 19,272,254 (GRCm39) |
Y132* |
probably null |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pax2 |
T |
A |
19: 44,823,838 (GRCm39) |
F366I |
probably damaging |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,489,543 (GRCm39) |
K316E |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,564,502 (GRCm39) |
N8K |
probably damaging |
Het |
| Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,367,419 (GRCm39) |
S198R |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,866 (GRCm39) |
N192S |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,960,493 (GRCm39) |
H66R |
probably benign |
Het |
| Tpr |
A |
G |
1: 150,299,325 (GRCm39) |
E1101G |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,944,676 (GRCm39) |
H1023N |
probably benign |
Het |
| Tsen15 |
A |
T |
1: 152,259,460 (GRCm39) |
D66E |
probably damaging |
Het |
| Tssk3 |
A |
G |
4: 129,382,994 (GRCm39) |
V226A |
possibly damaging |
Het |
| Ufl1 |
T |
A |
4: 25,278,601 (GRCm39) |
|
probably null |
Het |
| Usp3 |
A |
G |
9: 66,437,530 (GRCm39) |
C258R |
possibly damaging |
Het |
| Vmn2r117 |
TC |
T |
17: 23,698,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Grk5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02565:Grk5
|
APN |
19 |
61,057,809 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03183:Grk5
|
APN |
19 |
61,057,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0257:Grk5
|
UTSW |
19 |
61,065,068 (GRCm39) |
intron |
probably benign |
|
|
R1565:Grk5
|
UTSW |
19 |
61,078,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1603:Grk5
|
UTSW |
19 |
61,057,800 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1672:Grk5
|
UTSW |
19 |
61,074,653 (GRCm39) |
splice site |
probably null |
|
|
R1687:Grk5
|
UTSW |
19 |
61,065,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Grk5
|
UTSW |
19 |
61,065,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Grk5
|
UTSW |
19 |
61,078,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1824:Grk5
|
UTSW |
19 |
61,078,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1876:Grk5
|
UTSW |
19 |
61,071,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Grk5
|
UTSW |
19 |
60,976,213 (GRCm39) |
nonsense |
probably null |
|
|
R5085:Grk5
|
UTSW |
19 |
61,065,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Grk5
|
UTSW |
19 |
61,078,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Grk5
|
UTSW |
19 |
61,069,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6736:Grk5
|
UTSW |
19 |
60,879,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7061:Grk5
|
UTSW |
19 |
61,034,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Grk5
|
UTSW |
19 |
60,879,045 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7583:Grk5
|
UTSW |
19 |
61,071,642 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7852:Grk5
|
UTSW |
19 |
61,069,383 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8810:Grk5
|
UTSW |
19 |
61,078,432 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9082:Grk5
|
UTSW |
19 |
61,034,567 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9729:Grk5
|
UTSW |
19 |
61,078,467 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGCAGGTTGGAACATTC -3'
(R):5'- TTGGGGCCACCTTGGAAAAC -3'
Sequencing Primer
(F):5'- CAGGTTGGAACATTCTGGATTCTAC -3'
(R):5'- CAGACCTGAGTGGAAATTTCTTTGAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation