Incidental Mutation 'RF021:Grk3'
ID |
603876 |
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 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
RF021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
113058344-113163518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113089554 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 333
(I333L)
|
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: I333L
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000070445 Gene: ENSMUSG00000042249 AA Change: I333L
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
AA Change: I291L
PolyPhen 2
Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000142968 Gene: ENSMUSG00000042249 AA Change: I291L
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 |
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.3%
|
Validation Efficiency |
91% (50/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GTGGTGGCTG |
GTGGTGGCTGTGGTGGCTG |
1: 82,891,290 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,817,471 (GRCm39) |
H79R |
probably damaging |
Het |
Atg9a |
T |
A |
1: 75,159,273 (GRCm39) |
E826V |
probably damaging |
Het |
Atrnl1 |
T |
C |
19: 57,630,905 (GRCm39) |
V224A |
probably benign |
Het |
Bltp1 |
TTATTATTATTAT |
TTATTATTATTATTAATATTATTATTAT |
3: 37,104,897 (GRCm39) |
|
probably benign |
Het |
Cpn2 |
G |
A |
16: 30,078,156 (GRCm39) |
A515V |
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,734,785 (GRCm39) |
F402S |
possibly damaging |
Het |
Defb22 |
TGCGGCA |
TGCGGCAGAGCTGGGCGTTGCGGCA |
2: 152,327,752 (GRCm39) |
|
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,854,971 (GRCm39) |
V2016F |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,542,290 (GRCm39) |
|
probably null |
Het |
Efhd2 |
GCC |
GCCGCCCCC |
4: 141,602,084 (GRCm39) |
|
probably benign |
Het |
Fam131a |
A |
C |
16: 20,513,690 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
AGACCAGACC |
A |
14: 51,601,781 (GRCm39) |
|
probably benign |
Het |
Gna13 |
T |
C |
11: 109,283,218 (GRCm39) |
V186A |
probably benign |
Het |
Gstp1 |
A |
T |
19: 4,085,507 (GRCm39) |
V200E |
probably benign |
Het |
Gtf2h1 |
T |
G |
7: 46,453,289 (GRCm39) |
V74G |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Kiz |
A |
G |
2: 146,712,750 (GRCm39) |
D138G |
possibly damaging |
Het |
Kmt2b |
TTCTCCT |
TTCTCCTTCTCCT |
7: 30,285,782 (GRCm39) |
|
probably benign |
Het |
Lats1 |
A |
G |
10: 7,586,372 (GRCm39) |
T912A |
probably damaging |
Het |
Lce1m |
GCTGCCACC |
GCTGCCACCACTTCTGCCACC |
3: 92,925,576 (GRCm39) |
|
probably benign |
Het |
Lce1m |
TGCC |
TGCCGCCGCTGCCGCC |
3: 92,925,602 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
C |
3: 58,980,711 (GRCm39) |
F359S |
probably benign |
Het |
Mmut |
A |
G |
17: 41,262,649 (GRCm39) |
I444V |
probably benign |
Het |
Ncoa2 |
CTTAAAA |
C |
1: 13,219,333 (GRCm39) |
|
probably benign |
Het |
Ngp |
A |
G |
9: 110,250,824 (GRCm39) |
T114A |
possibly damaging |
Het |
Nlrc5 |
A |
T |
8: 95,203,516 (GRCm39) |
T539S |
probably benign |
Het |
Nxf1 |
A |
G |
19: 8,749,673 (GRCm39) |
D190G |
probably damaging |
Het |
Or6c2b |
A |
T |
10: 128,948,211 (GRCm39) |
F28I |
probably damaging |
Het |
Or8g2 |
A |
T |
9: 39,821,341 (GRCm39) |
M81L |
probably benign |
Het |
Pramel16 |
C |
G |
4: 143,675,478 (GRCm39) |
Q449H |
probably damaging |
Het |
Prdm15 |
G |
A |
16: 97,609,956 (GRCm39) |
H563Y |
probably damaging |
Het |
Rbm12 |
CAGG |
CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
Sema3g |
C |
T |
14: 30,949,798 (GRCm39) |
H660Y |
probably damaging |
Het |
Slco1a8 |
A |
T |
6: 141,954,440 (GRCm39) |
V31E |
probably damaging |
Het |
Smarca2 |
AGCAGCAGCAGCAGCAGCAGCA |
AGCAGCAGCAGCAGCAGCAGCAGCAGCA |
19: 26,608,397 (GRCm39) |
|
probably benign |
Het |
Stpg2 |
A |
T |
3: 138,918,011 (GRCm39) |
|
probably null |
Het |
Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
Tbcb |
C |
T |
7: 29,923,771 (GRCm39) |
V208M |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,915,030 (GRCm39) |
Q2169L |
possibly damaging |
Het |
Tln1 |
A |
G |
4: 43,555,890 (GRCm39) |
V108A |
probably damaging |
Het |
Tmc8 |
T |
C |
11: 117,674,060 (GRCm39) |
M42T |
probably benign |
Het |
Trdc |
T |
C |
14: 54,381,660 (GRCm39) |
V115A |
|
Het |
Ttbk2 |
A |
G |
2: 120,579,115 (GRCm39) |
V669A |
probably benign |
Het |
Tusc1 |
GCC |
GCCACCACC |
4: 93,223,553 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
G |
1: 192,802,974 (GRCm39) |
F248L |
probably benign |
Het |
Vps16 |
A |
G |
2: 130,280,129 (GRCm39) |
H118R |
probably benign |
Het |
Wdpcp |
T |
A |
11: 21,661,587 (GRCm39) |
C286* |
probably null |
Het |
Zbed4 |
C |
A |
15: 88,665,439 (GRCm39) |
Y502* |
probably null |
Het |
Zdbf2 |
T |
A |
1: 63,341,811 (GRCm39) |
N63K |
possibly 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 |
R2401:Grk3
|
UTSW |
5 |
113,062,849 (GRCm39) |
missense |
probably benign |
|
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 |
|
Z1176:Grk3
|
UTSW |
5 |
113,105,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAACATCCCAGCTGGTGAG -3'
(R):5'- CCACTGGGTGTTACTCTCTTATGG -3'
Sequencing Primer
(F):5'- TCCCAGCTGGTGAGGGAGG -3'
(R):5'- CCGCTAAAGTTTGCAGCATG -3'
|
Posted On |
2019-12-04 |