Incidental Mutation 'R0604:Adrb2'
ID |
55608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adrb2
|
Ensembl Gene |
ENSMUSG00000045730 |
Gene Name |
adrenergic receptor, beta 2 |
Synonyms |
Adrb-2, Gpcr7, Badm, beta 2-AR, beta 2-adrenoceptor |
MMRRC Submission |
038793-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0604 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
62310887-62313030 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62311586 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 413
(T413I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053640]
[ENSMUST00000067743]
|
AlphaFold |
P18762 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053640
AA Change: T413I
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000062256 Gene: ENSMUSG00000045730 AA Change: T413I
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
40 |
246 |
4.7e-10 |
PFAM |
Pfam:7TM_GPCR_Srx
|
41 |
250 |
2.2e-8 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
43 |
340 |
1.4e-15 |
PFAM |
Pfam:7tm_1
|
50 |
326 |
9.8e-74 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000067743
|
SMART Domains |
Protein: ENSMUSP00000065944 Gene: ENSMUSG00000054589
Domain | Start | End | E-Value | Type |
low complexity region
|
53 |
69 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This intronless gene belongs to the G-protein-coupled receptor superfamily, which includes transmembrane proteins that play a role in signal transduction across biological membranes resulting in a variety of physiological responses. The encoded protein is a beta-2 adrenergic receptor which is activated by catecholamine ligands such as adrenaline and epinephrine. The protein participates in the classical signaling pathway involving G protein, adenylyl cyclase, cAMP (3'-5'-cyclic adenosine monophosphate) and protein kinase A (PKA). In humans, this gene is implicated in susceptibility to nocturnal asthma, obesity and type 2 diabetes. [provided by RefSeq, Apr 2013] PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene exhibit increased bone mass. The primary physiological consequences are seen during exercise stress and result from alterations in vascular tone and energy metabolism. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
T |
C |
11: 69,775,451 (GRCm39) |
E302G |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Aqr |
T |
C |
2: 113,961,085 (GRCm39) |
K725R |
probably benign |
Het |
Braf |
A |
G |
6: 39,600,631 (GRCm39) |
I662T |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,200,500 (GRCm39) |
S435P |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,763,170 (GRCm39) |
M2332V |
possibly damaging |
Het |
Clgn |
T |
C |
8: 84,150,823 (GRCm39) |
V496A |
probably benign |
Het |
Dnah17 |
A |
C |
11: 118,012,297 (GRCm39) |
S193R |
probably benign |
Het |
Dntt |
A |
G |
19: 41,041,588 (GRCm39) |
E424G |
probably benign |
Het |
Fam149a |
A |
G |
8: 45,798,045 (GRCm39) |
L492P |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,410 (GRCm39) |
Y126H |
possibly damaging |
Het |
Fgfr3 |
A |
T |
5: 33,890,126 (GRCm39) |
Y96F |
probably damaging |
Het |
Gm4952 |
A |
G |
19: 12,602,036 (GRCm39) |
E148G |
probably benign |
Het |
Gucy2g |
T |
A |
19: 55,191,519 (GRCm39) |
L977F |
probably benign |
Het |
Il1r1 |
T |
C |
1: 40,321,406 (GRCm39) |
V6A |
probably benign |
Het |
Itsn2 |
C |
A |
12: 4,708,189 (GRCm39) |
Q832K |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,425 (GRCm39) |
F1014Y |
probably damaging |
Het |
Mcc |
G |
A |
18: 44,606,823 (GRCm39) |
A536V |
probably damaging |
Het |
Mtrf1 |
T |
C |
14: 79,653,327 (GRCm39) |
V334A |
possibly damaging |
Het |
Or1j21 |
T |
A |
2: 36,684,119 (GRCm39) |
Y290* |
probably null |
Het |
Or2t46 |
T |
A |
11: 58,472,174 (GRCm39) |
M168K |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4p18 |
T |
C |
2: 88,232,727 (GRCm39) |
T184A |
probably benign |
Het |
Pard6g |
A |
G |
18: 80,160,423 (GRCm39) |
S179G |
probably damaging |
Het |
Pierce1 |
C |
A |
2: 28,356,103 (GRCm39) |
R60L |
possibly damaging |
Het |
Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
Psg27 |
A |
T |
7: 18,290,997 (GRCm39) |
V402D |
probably damaging |
Het |
Rttn |
A |
G |
18: 88,995,882 (GRCm39) |
I222V |
probably damaging |
Het |
Sp9 |
T |
A |
2: 73,103,982 (GRCm39) |
S179T |
probably benign |
Het |
Tbc1d8 |
T |
A |
1: 39,444,407 (GRCm39) |
H184L |
probably damaging |
Het |
Vmn1r69 |
A |
G |
7: 10,314,581 (GRCm39) |
V50A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,510,000 (GRCm39) |
F526L |
possibly damaging |
Het |
|
Other mutations in Adrb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02336:Adrb2
|
APN |
18 |
62,312,078 (GRCm39) |
missense |
probably benign |
0.00 |
getup
|
UTSW |
18 |
62,312,142 (GRCm39) |
missense |
probably benign |
0.03 |
go
|
UTSW |
18 |
62,312,004 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Adrb2
|
UTSW |
18 |
62,312,798 (GRCm39) |
missense |
probably benign |
0.00 |
R0091:Adrb2
|
UTSW |
18 |
62,312,090 (GRCm39) |
missense |
probably benign |
|
R0420:Adrb2
|
UTSW |
18 |
62,312,610 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0436:Adrb2
|
UTSW |
18 |
62,312,624 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0626:Adrb2
|
UTSW |
18 |
62,312,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R0843:Adrb2
|
UTSW |
18 |
62,312,142 (GRCm39) |
missense |
probably benign |
0.03 |
R0940:Adrb2
|
UTSW |
18 |
62,312,762 (GRCm39) |
missense |
probably benign |
0.00 |
R1498:Adrb2
|
UTSW |
18 |
62,312,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R1517:Adrb2
|
UTSW |
18 |
62,311,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1603:Adrb2
|
UTSW |
18 |
62,312,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R1944:Adrb2
|
UTSW |
18 |
62,312,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R4367:Adrb2
|
UTSW |
18 |
62,312,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R5143:Adrb2
|
UTSW |
18 |
62,311,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R5468:Adrb2
|
UTSW |
18 |
62,312,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R5644:Adrb2
|
UTSW |
18 |
62,311,753 (GRCm39) |
missense |
probably benign |
0.01 |
R6073:Adrb2
|
UTSW |
18 |
62,312,537 (GRCm39) |
missense |
probably benign |
0.01 |
R6753:Adrb2
|
UTSW |
18 |
62,312,624 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7883:Adrb2
|
UTSW |
18 |
62,312,447 (GRCm39) |
missense |
probably damaging |
0.98 |
R8298:Adrb2
|
UTSW |
18 |
62,311,753 (GRCm39) |
missense |
probably benign |
0.01 |
R8366:Adrb2
|
UTSW |
18 |
62,311,775 (GRCm39) |
missense |
probably benign |
0.00 |
R8420:Adrb2
|
UTSW |
18 |
62,312,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R8427:Adrb2
|
UTSW |
18 |
62,312,345 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9246:Adrb2
|
UTSW |
18 |
62,312,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R9398:Adrb2
|
UTSW |
18 |
62,312,276 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCACAGCAGAAAGGTCCAAGAC -3'
(R):5'- GCTACTCTAGCAATAGCAACGGCAG -3'
Sequencing Primer
(F):5'- cagacagacagacagacagac -3'
(R):5'- CGGCAGAACGGACTACAC -3'
|
Posted On |
2013-07-11 |