Incidental Mutation 'R8204:Grk3'
| ID |
635805 |
| 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 |
067627-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8204 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
113058344-113163518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113105225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 171
(F171L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065167]
[ENSMUST00000197776]
[ENSMUST00000197888]
[ENSMUST00000200332]
|
| AlphaFold |
Q3UYH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065167
AA Change: F171L
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: F171L
| 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: ENSMUST00000197776
|
| SMART Domains |
Protein: ENSMUSP00000143427
Gene: ENSMUSG00000042249
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
170 |
7.71e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197888
AA Change: F129L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: F129L
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,057,606 (GRCm39) |
R731H |
probably benign |
Het |
| Arpp21 |
T |
A |
9: 111,965,638 (GRCm39) |
Y408F |
noncoding transcript |
Het |
| Atr |
T |
C |
9: 95,817,566 (GRCm39) |
S2086P |
|
Het |
| BC034090 |
C |
A |
1: 155,117,488 (GRCm39) |
G210V |
probably damaging |
Het |
| Cdk6 |
A |
G |
5: 3,394,461 (GRCm39) |
D32G |
probably damaging |
Het |
| Cep126 |
C |
T |
9: 8,120,781 (GRCm39) |
E81K |
probably damaging |
Het |
| Cep20 |
T |
C |
16: 14,118,070 (GRCm39) |
D150G |
probably benign |
Het |
| Clec4d |
T |
A |
6: 123,242,323 (GRCm39) |
V25D |
probably damaging |
Het |
| Cox8a |
A |
G |
19: 7,192,845 (GRCm39) |
I40T |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,210,320 (GRCm39) |
L792P |
probably damaging |
Het |
| Egln3 |
T |
C |
12: 54,250,010 (GRCm39) |
Y113C |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 84,832,504 (GRCm39) |
V397M |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,175,436 (GRCm39) |
L1759Q |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,110,074 (GRCm39) |
S701T |
unknown |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Git1 |
G |
A |
11: 77,396,161 (GRCm39) |
D551N |
probably benign |
Het |
| Gpr137 |
C |
T |
19: 6,917,746 (GRCm39) |
A21T |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,132,523 (GRCm39) |
F175S |
probably damaging |
Het |
| Hoxc13 |
A |
G |
15: 102,835,795 (GRCm39) |
N308D |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,700,989 (GRCm39) |
N924S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,449,914 (GRCm39) |
R993C |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,934,414 (GRCm39) |
M202V |
probably benign |
Het |
| Krtap19-9a |
C |
T |
16: 88,720,996 (GRCm39) |
G37D |
noncoding transcript |
Het |
| Lancl2 |
C |
A |
6: 57,714,701 (GRCm39) |
P440Q |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,222,710 (GRCm39) |
I608T |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,369 (GRCm39) |
E254V |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,958,502 (GRCm39) |
C528S |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,240,925 (GRCm39) |
D224G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myrip |
G |
A |
9: 120,262,045 (GRCm39) |
|
probably null |
Het |
| Or4f54 |
A |
G |
2: 111,123,485 (GRCm39) |
R291G |
probably damaging |
Het |
| Or5af2 |
A |
C |
11: 58,707,885 (GRCm39) |
D17A |
probably benign |
Het |
| Plekhg6 |
C |
T |
6: 125,340,461 (GRCm39) |
R633H |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,292,733 (GRCm39) |
V344A |
possibly damaging |
Het |
| Ppp2r1a |
A |
G |
17: 21,177,035 (GRCm39) |
E191G |
probably benign |
Het |
| Prkag2 |
T |
C |
5: 25,074,125 (GRCm39) |
|
probably null |
Het |
| Pyroxd2 |
A |
T |
19: 42,737,827 (GRCm39) |
V48E |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,450,397 (GRCm39) |
S4148P |
probably damaging |
Het |
| Sh3tc2 |
T |
C |
18: 62,086,200 (GRCm39) |
F5S |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,796,090 (GRCm39) |
S255P |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,226,159 (GRCm39) |
Q948L |
probably damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,707,618 (GRCm39) |
L1046Q |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfcp2 |
G |
T |
15: 100,420,329 (GRCm39) |
Q169K |
possibly damaging |
Het |
| Tpp1 |
A |
T |
7: 105,399,522 (GRCm39) |
L82Q |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,931,609 (GRCm39) |
S697P |
probably benign |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,285 (GRCm39) |
I46N |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,000,451 (GRCm39) |
V2973A |
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,271,709 (GRCm39) |
V564A |
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 |
|
|
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'- GTCCACGGACTTATAAGAAGCAC -3'
(R):5'- TCACGTGTACATATATGCAGGG -3'
Sequencing Primer
(F):5'- CGGACTTATAAGAAGCACATCTG -3'
(R):5'- CCTCATTGCTAAGAGTTCACAGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation