Incidental Mutation 'R4392:Grk3'
| ID |
326400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grk3
|
| Ensembl Gene |
ENSMUSG00000042249 |
| Gene Name |
G protein-coupled receptor kinase 3 |
| Synonyms |
4833444A01Rik, Bark-2, Adrbk-2, Adrbk2, beta ARK2 |
| MMRRC Submission |
041127-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4392 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
112910482-113015791 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 112920136 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 467
(F467S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065167]
[ENSMUST00000197888]
[ENSMUST00000200332]
|
| AlphaFold |
Q3UYH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065167
AA Change: F509S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: F509S
| 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 |
noncoding transcript
Transcript: ENSMUST00000195928
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197888
AA Change: F467S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: F467S
| 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 |
0.8947 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 96.1%
- 20x: 90.5%
|
| Validation Efficiency |
95% (69/73) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
C |
T |
14: 54,584,978 (GRCm38) |
|
probably null |
Het |
| Abca13 |
A |
C |
11: 9,309,034 (GRCm38) |
K2920T |
possibly damaging |
Het |
| Amy2b |
T |
G |
3: 113,149,408 (GRCm38) |
|
noncoding transcript |
Het |
| Anapc1 |
T |
C |
2: 128,676,249 (GRCm38) |
|
probably null |
Het |
| Bmp7 |
T |
G |
2: 172,916,542 (GRCm38) |
D178A |
probably benign |
Het |
| Brsk1 |
T |
A |
7: 4,698,750 (GRCm38) |
I170N |
probably damaging |
Het |
| Bub3 |
C |
T |
7: 131,566,335 (GRCm38) |
A187V |
probably benign |
Het |
| Cacna2d2 |
A |
G |
9: 107,400,280 (GRCm38) |
H71R |
possibly damaging |
Het |
| Cdrt4 |
A |
T |
11: 62,951,353 (GRCm38) |
K20N |
probably benign |
Het |
| Clec12a |
A |
T |
6: 129,353,464 (GRCm38) |
|
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,662,488 (GRCm38) |
Y1600F |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 27,029,275 (GRCm38) |
I57N |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,162,036 (GRCm38) |
L223P |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,289,229 (GRCm38) |
R1188H |
probably benign |
Het |
| Dopey1 |
T |
C |
9: 86,503,143 (GRCm38) |
|
probably benign |
Het |
| Efcab5 |
T |
A |
11: 77,090,458 (GRCm38) |
N1354I |
probably damaging |
Het |
| Eif4b |
T |
A |
15: 102,086,641 (GRCm38) |
|
probably null |
Het |
| Elmsan1 |
A |
T |
12: 84,173,111 (GRCm38) |
D356E |
probably benign |
Het |
| Erlec1 |
A |
G |
11: 30,943,697 (GRCm38) |
|
probably null |
Het |
| Esp24 |
T |
C |
17: 39,040,077 (GRCm38) |
|
probably benign |
Het |
| Esp34 |
T |
C |
17: 38,559,491 (GRCm38) |
V24A |
possibly damaging |
Het |
| Fbxw15 |
T |
A |
9: 109,568,232 (GRCm38) |
|
probably benign |
Het |
| Foxc2 |
T |
C |
8: 121,117,452 (GRCm38) |
S280P |
probably damaging |
Het |
| Gm21738 |
G |
C |
14: 19,417,178 (GRCm38) |
L117V |
probably benign |
Het |
| Grwd1 |
C |
T |
7: 45,827,780 (GRCm38) |
G228S |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,260,629 (GRCm38) |
E399G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Homer3 |
G |
A |
8: 70,290,143 (GRCm38) |
|
probably null |
Het |
| Lhx4 |
A |
G |
1: 155,710,134 (GRCm38) |
Y83H |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 29,850,656 (GRCm38) |
T413A |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,397,616 (GRCm38) |
L184H |
probably damaging |
Het |
| Mroh2a |
C |
T |
1: 88,259,589 (GRCm38) |
R133C |
probably damaging |
Het |
| Myh13 |
A |
C |
11: 67,344,881 (GRCm38) |
|
probably null |
Het |
| Nkain3 |
C |
A |
4: 20,282,985 (GRCm38) |
R116L |
possibly damaging |
Het |
| Nxph2 |
A |
C |
2: 23,400,272 (GRCm38) |
Q212P |
probably damaging |
Het |
| Olfr268-ps1 |
T |
C |
2: 111,844,345 (GRCm38) |
|
noncoding transcript |
Het |
| Olfr726 |
A |
G |
14: 50,084,603 (GRCm38) |
F26S |
probably benign |
Het |
| Otog |
T |
C |
7: 46,285,124 (GRCm38) |
Y1369H |
probably damaging |
Het |
| Prl |
A |
G |
13: 27,064,351 (GRCm38) |
I131V |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,142,467 (GRCm38) |
I373F |
possibly damaging |
Het |
| Rad18 |
A |
T |
6: 112,693,529 (GRCm38) |
C25S |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,032,311 (GRCm38) |
T678A |
probably damaging |
Het |
| Scaper |
T |
A |
9: 55,858,115 (GRCm38) |
E557V |
probably damaging |
Het |
| Scube3 |
C |
T |
17: 28,164,788 (GRCm38) |
P511L |
probably null |
Het |
| Sgpl1 |
A |
G |
10: 61,104,452 (GRCm38) |
|
probably benign |
Het |
| Slc10a1 |
C |
A |
12: 80,967,804 (GRCm38) |
E47D |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,418,471 (GRCm38) |
N369S |
probably damaging |
Het |
| Sstr5 |
T |
C |
17: 25,491,224 (GRCm38) |
T344A |
probably benign |
Het |
| Tgm4 |
C |
T |
9: 123,066,752 (GRCm38) |
T631I |
probably benign |
Het |
| Tmprss15 |
A |
G |
16: 79,024,438 (GRCm38) |
Y457H |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,848,538 (GRCm38) |
W207R |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,795,509 (GRCm38) |
|
probably null |
Het |
| Ttc26 |
A |
G |
6: 38,381,557 (GRCm38) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,211,984 (GRCm38) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Usp2 |
A |
T |
9: 44,091,259 (GRCm38) |
H384L |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,230,176 (GRCm38) |
V169I |
probably benign |
Het |
| Vopp1 |
A |
C |
6: 57,762,476 (GRCm38) |
F29C |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,251,832 (GRCm38) |
D953G |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,139,643 (GRCm38) |
C419* |
probably null |
Het |
|
| Other mutations in Grk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00974:Grk3
|
APN |
5 |
112,985,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01359:Grk3
|
APN |
5 |
112,937,760 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02318:Grk3
|
APN |
5 |
112,937,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02612:Grk3
|
APN |
5 |
112,969,234 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0142:Grk3
|
UTSW |
5 |
112,915,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0589:Grk3
|
UTSW |
5 |
112,928,763 (GRCm38) |
splice site |
probably benign |
|
|
R0607:Grk3
|
UTSW |
5 |
112,920,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1459:Grk3
|
UTSW |
5 |
112,915,012 (GRCm38) |
missense |
probably benign |
0.10 |
|
R1554:Grk3
|
UTSW |
5 |
112,969,269 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1640:Grk3
|
UTSW |
5 |
113,015,382 (GRCm38) |
missense |
probably benign |
0.36 |
|
R1657:Grk3
|
UTSW |
5 |
112,966,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1789:Grk3
|
UTSW |
5 |
112,941,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2401:Grk3
|
UTSW |
5 |
112,914,983 (GRCm38) |
missense |
probably benign |
|
|
R3735:Grk3
|
UTSW |
5 |
112,953,831 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4024:Grk3
|
UTSW |
5 |
112,914,984 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4025:Grk3
|
UTSW |
5 |
112,914,984 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R4439:Grk3
|
UTSW |
5 |
112,946,677 (GRCm38) |
splice site |
probably null |
|
|
R4589:Grk3
|
UTSW |
5 |
112,941,718 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4646:Grk3
|
UTSW |
5 |
112,929,720 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5154:Grk3
|
UTSW |
5 |
112,941,717 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5462:Grk3
|
UTSW |
5 |
112,969,208 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5764:Grk3
|
UTSW |
5 |
112,966,910 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5790:Grk3
|
UTSW |
5 |
112,966,976 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6516:Grk3
|
UTSW |
5 |
112,961,549 (GRCm38) |
intron |
probably benign |
|
|
R6848:Grk3
|
UTSW |
5 |
112,985,775 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7857:Grk3
|
UTSW |
5 |
112,961,561 (GRCm38) |
missense |
unknown |
|
|
R7873:Grk3
|
UTSW |
5 |
112,929,686 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8029:Grk3
|
UTSW |
5 |
112,961,642 (GRCm38) |
missense |
probably benign |
|
|
R8132:Grk3
|
UTSW |
5 |
112,961,489 (GRCm38) |
missense |
unknown |
|
|
R8204:Grk3
|
UTSW |
5 |
112,957,359 (GRCm38) |
missense |
probably benign |
0.17 |
|
R8903:Grk3
|
UTSW |
5 |
112,918,831 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R9450:Grk3
|
UTSW |
5 |
112,915,047 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9794:Grk3
|
UTSW |
5 |
112,973,582 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
RF021:Grk3
|
UTSW |
5 |
112,941,688 (GRCm38) |
missense |
probably benign |
0.20 |
|
Z1176:Grk3
|
UTSW |
5 |
112,957,314 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCACCTGGTGACTCCAATC -3'
(R):5'- TGATGCTATTGACGGCCAG -3'
Sequencing Primer
(F):5'- TGGTGACTCCAATCCACGTAAAAC -3'
(R):5'- TCCCTGAATGTGGTCATG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation