Incidental Mutation 'IGL02612:Grk3'
| ID |
300517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02612
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113058344-113163518 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113117100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 100
(D100E)
|
| 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
AA Change: D100E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070445
Gene: ENSMUSG00000042249
AA Change: D100E
| 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
AA Change: D100E
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143427
Gene: ENSMUSG00000042249
AA Change: D100E
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
54 |
170 |
7.71e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197888
AA Change: D58E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142968
Gene: ENSMUSG00000042249
AA Change: D58E
| 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 |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,971 (GRCm39) |
M1432L |
probably benign |
Het |
| Alg11 |
A |
G |
8: 22,551,999 (GRCm39) |
R48G |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Bmp4 |
T |
A |
14: 46,621,938 (GRCm39) |
D202V |
probably damaging |
Het |
| Car12 |
T |
G |
9: 66,669,706 (GRCm39) |
L300R |
probably damaging |
Het |
| Cdc37l1 |
T |
A |
19: 28,993,502 (GRCm39) |
*336R |
probably null |
Het |
| Cep89 |
A |
G |
7: 35,124,080 (GRCm39) |
|
probably null |
Het |
| Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
| Chd5 |
A |
G |
4: 152,445,033 (GRCm39) |
D338G |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,019,945 (GRCm39) |
C466R |
probably damaging |
Het |
| Dach2 |
T |
C |
X: 112,660,101 (GRCm39) |
M194T |
probably benign |
Het |
| Dmrtc1b |
A |
G |
X: 101,756,873 (GRCm39) |
D100G |
probably benign |
Het |
| Epm2a |
G |
A |
10: 11,332,980 (GRCm39) |
R271H |
probably damaging |
Het |
| Fem1c |
G |
T |
18: 46,638,781 (GRCm39) |
T407K |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,889,848 (GRCm39) |
Y273C |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,576 (GRCm39) |
A408E |
probably benign |
Het |
| Gbp10 |
A |
T |
5: 105,366,368 (GRCm39) |
M512K |
possibly damaging |
Het |
| Gm5134 |
T |
C |
10: 75,828,323 (GRCm39) |
L301P |
probably damaging |
Het |
| Gsdma3 |
T |
A |
11: 98,526,707 (GRCm39) |
D322E |
probably damaging |
Het |
| Gucy1a2 |
C |
A |
9: 3,894,556 (GRCm39) |
L680I |
possibly damaging |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,766 (GRCm39) |
Y79C |
probably damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,024 (GRCm39) |
T27A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,106,404 (GRCm39) |
D1002G |
probably damaging |
Het |
| Map4k5 |
T |
A |
12: 69,896,358 (GRCm39) |
I169F |
possibly damaging |
Het |
| Mink1 |
T |
C |
11: 70,488,052 (GRCm39) |
V39A |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,508,482 (GRCm39) |
H301Q |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,147,305 (GRCm39) |
T1650I |
probably benign |
Het |
| Or52n4 |
A |
T |
7: 104,293,870 (GRCm39) |
D234E |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,958,662 (GRCm39) |
L48Q |
probably damaging |
Het |
| Or8b44 |
T |
C |
9: 38,410,769 (GRCm39) |
M268T |
probably benign |
Het |
| Pate10 |
T |
C |
9: 35,653,460 (GRCm39) |
I88T |
possibly damaging |
Het |
| Pbxip1 |
C |
T |
3: 89,350,988 (GRCm39) |
T117M |
probably damaging |
Het |
| Pgghg |
C |
T |
7: 140,526,251 (GRCm39) |
T572M |
probably damaging |
Het |
| Phactr2 |
G |
A |
10: 13,121,167 (GRCm39) |
T511I |
probably damaging |
Het |
| Pip5k1a |
T |
C |
3: 94,974,724 (GRCm39) |
I385V |
probably benign |
Het |
| Pwp2 |
A |
G |
10: 78,018,828 (GRCm39) |
C60R |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rttn |
G |
T |
18: 88,991,750 (GRCm39) |
D110Y |
probably damaging |
Het |
| Setbp1 |
G |
T |
18: 78,798,925 (GRCm39) |
H1418Q |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,569,608 (GRCm39) |
I37V |
probably benign |
Het |
| Slc27a6 |
A |
T |
18: 58,689,977 (GRCm39) |
I148F |
probably benign |
Het |
| Slmap |
A |
G |
14: 26,180,621 (GRCm39) |
|
probably benign |
Het |
| Speer4a3 |
A |
C |
5: 26,156,614 (GRCm39) |
Y122D |
probably benign |
Het |
| Stil |
A |
G |
4: 114,880,893 (GRCm39) |
Q479R |
possibly damaging |
Het |
| Svop |
A |
G |
5: 114,166,321 (GRCm39) |
*549Q |
probably null |
Het |
| Tnks |
C |
T |
8: 35,316,453 (GRCm39) |
V889I |
possibly damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,633,826 (GRCm39) |
V1308E |
possibly damaging |
Het |
| Vmn1r208 |
C |
A |
13: 22,956,993 (GRCm39) |
C168F |
probably damaging |
Het |
| Vmn2r117 |
A |
T |
17: 23,678,758 (GRCm39) |
M822K |
possibly damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,552 (GRCm39) |
N1751S |
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,148 (GRCm39) |
F780I |
probably damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,577 (GRCm39) |
I184T |
possibly damaging |
Het |
| Wdr26 |
A |
T |
1: 181,005,361 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
G |
A |
18: 55,031,273 (GRCm39) |
T889M |
probably damaging |
Het |
| Zfp955a |
G |
T |
17: 33,463,039 (GRCm39) |
Q31K |
probably damaging |
Het |
| Zpbp2 |
T |
C |
11: 98,446,343 (GRCm39) |
L145S |
probably benign |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation