Incidental Mutation 'R5143:Adrb2'
| ID |
396541 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
62310887-62313030 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62311847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 326
(Y326C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053640]
[ENSMUST00000067743]
|
| AlphaFold |
P18762 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053640
AA Change: Y326C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: Y326C
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,887,064 (GRCm39) |
|
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,810,100 (GRCm39) |
I886T |
probably benign |
Het |
| Aplp1 |
G |
A |
7: 30,140,548 (GRCm39) |
R334C |
probably damaging |
Het |
| AY358078 |
T |
C |
14: 52,040,006 (GRCm39) |
S39P |
unknown |
Het |
| Bpifb2 |
A |
T |
2: 153,720,424 (GRCm39) |
D61V |
probably damaging |
Het |
| Caap1 |
A |
T |
4: 94,389,619 (GRCm39) |
N238K |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,865,020 (GRCm39) |
V726A |
possibly damaging |
Het |
| Chrna7 |
T |
C |
7: 62,755,895 (GRCm39) |
Y217C |
probably damaging |
Het |
| Crocc |
T |
A |
4: 140,768,350 (GRCm39) |
T414S |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,158,744 (GRCm39) |
F620I |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,102,545 (GRCm39) |
L256P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,397 (GRCm39) |
I2002M |
probably damaging |
Het |
| Foxp1 |
A |
G |
6: 98,922,493 (GRCm39) |
|
probably null |
Het |
| Fut8 |
A |
G |
12: 77,411,983 (GRCm39) |
D111G |
probably benign |
Het |
| Golgb1 |
C |
T |
16: 36,719,051 (GRCm39) |
A319V |
probably benign |
Het |
| Hoxd3 |
C |
T |
2: 74,576,716 (GRCm39) |
R39C |
probably damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Or52b1 |
T |
A |
7: 104,978,731 (GRCm39) |
I223F |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,493,200 (GRCm39) |
N41Y |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,429,785 (GRCm39) |
Y586C |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,903,519 (GRCm39) |
Q442* |
probably null |
Het |
| Plppr5 |
A |
G |
3: 117,419,552 (GRCm39) |
T207A |
probably benign |
Het |
| Pomt1 |
C |
A |
2: 32,144,341 (GRCm39) |
A709E |
probably benign |
Het |
| Prmt8 |
A |
G |
6: 127,709,677 (GRCm39) |
M61T |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,506 (GRCm39) |
|
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,021,747 (GRCm39) |
K493* |
probably null |
Het |
| Semp2l2a |
A |
G |
8: 13,886,844 (GRCm39) |
S416P |
possibly damaging |
Het |
| Tmc2 |
A |
T |
2: 130,076,738 (GRCm39) |
S355C |
probably damaging |
Het |
| Tonsl |
A |
G |
15: 76,520,857 (GRCm39) |
S399P |
possibly damaging |
Het |
| Ttc14 |
T |
C |
3: 33,863,050 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,409 (GRCm39) |
S19168P |
probably damaging |
Het |
| Usp17lb |
A |
T |
7: 104,490,685 (GRCm39) |
S80T |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,804,120 (GRCm39) |
I457V |
possibly damaging |
Het |
| Wdr64 |
G |
T |
1: 175,553,979 (GRCm39) |
D170Y |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,645,948 (GRCm39) |
V41A |
probably 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 |
|
R0604:Adrb2
|
UTSW |
18 |
62,311,586 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
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 |
|
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'- TAAGGCTAGGCACAGTACCTTG -3'
(R):5'- CAAAGCCCTCAAGACTTTAGGC -3'
Sequencing Primer
(F):5'- TAGGCACAGTACCTTGACAGTTC -3'
(R):5'- TTAGGCATCATCATGGGCAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation