Incidental Mutation 'R8132:Grk3'
ID |
632064 |
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 |
067895-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8132 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
113058344-113163518 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113109355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 201
(S201P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065167]
[ENSMUST00000197776]
[ENSMUST00000197888]
[ENSMUST00000200332]
|
AlphaFold |
Q3UYH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065167
|
SMART Domains |
Protein: ENSMUSP00000070445 Gene: ENSMUSG00000042249
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 |
unknown
Transcript: ENSMUST00000197776
AA Change: S201P
|
SMART Domains |
Protein: ENSMUSP00000143427 Gene: ENSMUSG00000042249 AA Change: S201P
Domain | Start | End | E-Value | Type |
RGS
|
54 |
170 |
7.71e-20 |
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 |
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: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,691,757 (GRCm39) |
A403T |
|
Het |
Abhd16b |
G |
A |
2: 181,135,760 (GRCm39) |
A221T |
probably damaging |
Het |
Arhgef1 |
C |
T |
7: 24,607,087 (GRCm39) |
|
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,619,174 (GRCm39) |
Q472* |
probably null |
Het |
Calr3 |
C |
T |
8: 73,181,023 (GRCm39) |
G298S |
probably damaging |
Het |
Chrng |
A |
G |
1: 87,133,718 (GRCm39) |
T15A |
unknown |
Het |
CK137956 |
T |
A |
4: 127,845,075 (GRCm39) |
K223* |
probably null |
Het |
Clca3b |
A |
T |
3: 144,552,935 (GRCm39) |
S97T |
probably benign |
Het |
Cops7b |
G |
T |
1: 86,514,916 (GRCm39) |
G102V |
probably damaging |
Het |
Dennd1a |
T |
A |
2: 37,748,072 (GRCm39) |
S382C |
probably damaging |
Het |
Fdps |
G |
A |
3: 89,006,693 (GRCm39) |
Q66* |
probably null |
Het |
Gemin4 |
T |
C |
11: 76,103,739 (GRCm39) |
T341A |
probably benign |
Het |
Hgf |
C |
T |
5: 16,807,329 (GRCm39) |
T407I |
probably damaging |
Het |
Hip1r |
C |
T |
5: 124,135,290 (GRCm39) |
R446C |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,740,827 (GRCm39) |
I327L |
possibly damaging |
Het |
Ifna15 |
T |
C |
4: 88,475,920 (GRCm39) |
E188G |
possibly damaging |
Het |
Igip |
A |
G |
18: 36,434,266 (GRCm39) |
S11G |
probably benign |
Het |
Igkv5-39 |
A |
G |
6: 69,877,589 (GRCm39) |
Y56H |
probably damaging |
Het |
Jph1 |
G |
A |
1: 17,086,379 (GRCm39) |
T381I |
probably damaging |
Het |
Lrrc55 |
T |
C |
2: 85,022,259 (GRCm39) |
I311V |
probably benign |
Het |
Mrps35 |
T |
A |
6: 146,949,661 (GRCm39) |
D58E |
probably benign |
Het |
Ms4a4d |
C |
A |
19: 11,535,310 (GRCm39) |
P203T |
probably benign |
Het |
Naip1 |
T |
G |
13: 100,573,883 (GRCm39) |
E225D |
possibly damaging |
Het |
Ncapg2 |
T |
A |
12: 116,407,967 (GRCm39) |
I989N |
possibly damaging |
Het |
Nek3 |
A |
T |
8: 22,647,036 (GRCm39) |
Y166* |
probably null |
Het |
Nphs1 |
A |
G |
7: 30,181,478 (GRCm39) |
E1169G |
probably benign |
Het |
Nudt15 |
G |
A |
14: 73,759,099 (GRCm39) |
P123L |
probably benign |
Het |
Or10c1 |
T |
A |
17: 37,522,207 (GRCm39) |
E179V |
probably damaging |
Het |
Or10q1b |
G |
A |
19: 13,682,584 (GRCm39) |
C131Y |
probably damaging |
Het |
Or5ac22 |
T |
C |
16: 59,134,907 (GRCm39) |
I288V |
possibly damaging |
Het |
Or6k14 |
T |
A |
1: 173,927,737 (GRCm39) |
S238T |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,369 (GRCm39) |
V69M |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,093,694 (GRCm39) |
S68P |
possibly damaging |
Het |
Plec |
G |
T |
15: 76,074,773 (GRCm39) |
A330E |
unknown |
Het |
Rpa3 |
A |
C |
6: 8,256,790 (GRCm39) |
I63S |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Snap25 |
A |
T |
2: 136,611,748 (GRCm39) |
K83N |
probably benign |
Het |
Sos1 |
T |
G |
17: 80,716,031 (GRCm39) |
Q977P |
probably damaging |
Het |
Spag16 |
A |
G |
1: 70,420,461 (GRCm39) |
Y483C |
probably damaging |
Het |
Speg |
A |
G |
1: 75,399,639 (GRCm39) |
E2362G |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,855,084 (GRCm39) |
D128G |
probably damaging |
Het |
Syngap1 |
G |
A |
17: 27,177,154 (GRCm39) |
M545I |
probably damaging |
Het |
Tdpoz6 |
G |
A |
3: 93,599,452 (GRCm39) |
Q306* |
probably null |
Het |
Tmem147 |
T |
C |
7: 30,427,872 (GRCm39) |
E110G |
probably damaging |
Het |
Tmem156 |
T |
A |
5: 65,233,098 (GRCm39) |
I155F |
probably benign |
Het |
Trim25 |
C |
A |
11: 88,907,432 (GRCm39) |
A597E |
probably damaging |
Het |
Ttc7b |
T |
C |
12: 100,413,131 (GRCm39) |
Y229C |
probably damaging |
Het |
Utrn |
T |
A |
10: 12,558,154 (GRCm39) |
Q1435L |
probably damaging |
Het |
Zbtb41 |
T |
C |
1: 139,350,955 (GRCm39) |
S23P |
probably benign |
Het |
Zeb2 |
T |
A |
2: 44,879,142 (GRCm39) |
I1075F |
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 |
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 |
|
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'- TGAGTGCACAGTCTGTCCTC -3'
(R):5'- CTTTCTTTGCAGCCATACATAGAAG -3'
Sequencing Primer
(F):5'- GATGTGTCTCAAGATCCTAAGATGTG -3'
(R):5'- GAAATCTGTGAAAGCCTTCGTG -3'
|
Posted On |
2020-06-30 |