Incidental Mutation 'R2401:Grk3'
| ID |
248681 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk3
|
| Ensembl Gene |
ENSMUSG00000042249 |
| Gene Name |
G protein-coupled receptor kinase 3 |
| Synonyms |
Adrbk-2, beta ARK2, 4833444A01Rik, Bark-2, Adrbk2 |
| MMRRC Submission |
040367-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2401 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113058344-113163518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113062849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 666
(N666S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065167]
[ENSMUST00000197888]
[ENSMUST00000200332]
|
| AlphaFold |
Q3UYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065167
AA Change: N666S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: N666S
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
175 |
1.44e-28 |
SMART |
|
S_TKc
|
191 |
453 |
8.94e-85 |
SMART |
|
S_TK_X
|
454 |
530 |
2.19e-10 |
SMART |
|
PH
|
559 |
654 |
8.45e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197888
|
| SMART Domains |
Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
12 |
133 |
1.44e-28 |
SMART |
|
S_TKc
|
149 |
411 |
8.94e-85 |
SMART |
|
S_TK_X
|
412 |
488 |
2.19e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199337
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200332
|
| SMART Domains |
Protein: ENSMUSP00000142926
Gene: ENSMUSG00000042249
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3V5W|A
|
1 |
88 |
6e-42 |
PDB |
|
SCOP:d1dk8a_
|
48 |
88 |
2e-4 |
SMART |
|
Blast:RGS
|
54 |
88 |
1e-18 |
BLAST |
|
| Meta Mutation Damage Score |
0.0586 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The beta-adrenergic receptor kinase specifically phosphorylates the agonist-occupied form of the beta-adrenergic and related G protein-coupled receptors. Overall, the beta adrenergic receptor kinase 2 has 85% amino acid similarity with beta adrenergic receptor kinase 1, with the protein kinase catalytic domain having 95% similarity. These data suggest the existence of a family of receptor kinases which may serve broadly to regulate receptor function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation of this gene appear normal and are fertile, but exhibit a lack of odorant receptor-mediated desensitization in the olfactory epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
C |
7: 119,882,312 (GRCm39) |
L1158P |
probably damaging |
Het |
| Acnat1 |
A |
T |
4: 49,451,077 (GRCm39) |
N11K |
possibly damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,909,056 (GRCm39) |
I217N |
possibly damaging |
Het |
| Ankrd11 |
G |
A |
8: 123,635,473 (GRCm39) |
R54* |
probably null |
Het |
| Ccdc178 |
C |
T |
18: 22,264,471 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,372,114 (GRCm39) |
S425P |
probably benign |
Het |
| Cnmd |
A |
G |
14: 79,894,045 (GRCm39) |
V114A |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,686,941 (GRCm39) |
T651A |
unknown |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyp3a25 |
T |
C |
5: 145,923,778 (GRCm39) |
|
probably null |
Het |
| Dmrta1 |
A |
T |
4: 89,579,853 (GRCm39) |
D271V |
probably benign |
Het |
| Efcab3 |
T |
A |
11: 104,963,144 (GRCm39) |
|
probably null |
Het |
| Exo5 |
T |
C |
4: 120,779,194 (GRCm39) |
I224V |
probably damaging |
Het |
| Fam162b |
C |
A |
10: 51,463,314 (GRCm39) |
A118S |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,283,325 (GRCm39) |
T406A |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,922,576 (GRCm39) |
F370L |
possibly damaging |
Het |
| Ighv8-11 |
T |
G |
12: 115,531,223 (GRCm39) |
|
probably benign |
Het |
| Iho1 |
G |
T |
9: 108,290,205 (GRCm39) |
T133N |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,897,389 (GRCm39) |
D1534G |
possibly damaging |
Het |
| Kcnk2 |
G |
C |
1: 189,072,214 (GRCm39) |
T38S |
possibly damaging |
Het |
| Kif16b |
C |
T |
2: 142,598,042 (GRCm39) |
V527I |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,276,133 (GRCm39) |
Y1789H |
probably damaging |
Het |
| Lpl |
A |
C |
8: 69,353,895 (GRCm39) |
D412A |
possibly damaging |
Het |
| Lrrc27 |
T |
G |
7: 138,803,529 (GRCm39) |
L151R |
probably damaging |
Het |
| Muc17 |
T |
C |
5: 137,190,980 (GRCm39) |
|
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,185,069 (GRCm39) |
Y829* |
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,192 (GRCm39) |
Y447C |
probably damaging |
Het |
| Or4f57 |
T |
C |
2: 111,790,494 (GRCm39) |
Y308C |
probably benign |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,222 (GRCm39) |
V381A |
probably benign |
Het |
| Prmt2 |
C |
T |
10: 76,061,249 (GRCm39) |
W79* |
probably null |
Het |
| Skic2 |
T |
C |
17: 35,059,361 (GRCm39) |
M1029V |
probably benign |
Het |
| Stil |
A |
G |
4: 114,873,483 (GRCm39) |
R369G |
probably null |
Het |
| Ttc41 |
T |
C |
10: 86,560,238 (GRCm39) |
I387T |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 88,987,187 (GRCm39) |
L1262P |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,819,445 (GRCm39) |
H1206R |
probably damaging |
Het |
|
| Other mutations in Grk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Grk3
|
APN |
5 |
113,133,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01359:Grk3
|
APN |
5 |
113,085,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02318:Grk3
|
APN |
5 |
113,085,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Grk3
|
APN |
5 |
113,117,100 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0142:Grk3
|
UTSW |
5 |
113,062,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Grk3
|
UTSW |
5 |
113,076,629 (GRCm39) |
splice site |
probably benign |
|
|
R0607:Grk3
|
UTSW |
5 |
113,067,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Grk3
|
UTSW |
5 |
113,062,878 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1554:Grk3
|
UTSW |
5 |
113,117,135 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1640:Grk3
|
UTSW |
5 |
113,163,248 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1657:Grk3
|
UTSW |
5 |
113,114,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1789:Grk3
|
UTSW |
5 |
113,089,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Grk3
|
UTSW |
5 |
113,101,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4024:Grk3
|
UTSW |
5 |
113,062,850 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4025:Grk3
|
UTSW |
5 |
113,062,850 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4392:Grk3
|
UTSW |
5 |
113,068,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4439:Grk3
|
UTSW |
5 |
113,094,543 (GRCm39) |
splice site |
probably null |
|
|
R4589:Grk3
|
UTSW |
5 |
113,089,584 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4646:Grk3
|
UTSW |
5 |
113,077,586 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5154:Grk3
|
UTSW |
5 |
113,089,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5462:Grk3
|
UTSW |
5 |
113,117,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5764:Grk3
|
UTSW |
5 |
113,114,776 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5790:Grk3
|
UTSW |
5 |
113,114,842 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6516:Grk3
|
UTSW |
5 |
113,109,415 (GRCm39) |
intron |
probably benign |
|
|
R6848:Grk3
|
UTSW |
5 |
113,133,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7857:Grk3
|
UTSW |
5 |
113,109,427 (GRCm39) |
missense |
unknown |
|
|
R7873:Grk3
|
UTSW |
5 |
113,077,552 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8029:Grk3
|
UTSW |
5 |
113,109,508 (GRCm39) |
missense |
probably benign |
|
|
R8132:Grk3
|
UTSW |
5 |
113,109,355 (GRCm39) |
missense |
unknown |
|
|
R8204:Grk3
|
UTSW |
5 |
113,105,225 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8903:Grk3
|
UTSW |
5 |
113,066,697 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9450:Grk3
|
UTSW |
5 |
113,062,913 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9794:Grk3
|
UTSW |
5 |
113,121,448 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
RF021:Grk3
|
UTSW |
5 |
113,089,554 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Grk3
|
UTSW |
5 |
113,105,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGCTCAGAAACACTGTGTC -3'
(R):5'- TTGTCTCACCAGGTTCCCAG -3'
Sequencing Primer
(F):5'- GTGCTCAGAAACACTGTGTCTTAGC -3'
(R):5'- CAGGCTTCATTCAGTGCAGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation