Incidental Mutation 'R0940:Adrb2'
ID 81469
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 039079-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0940 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 62310887-62313030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62312762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 21 (D21G)
Ref Sequence ENSEMBL: ENSMUSP00000062256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053640] [ENSMUST00000067743]
AlphaFold P18762
Predicted Effect probably benign
Transcript: ENSMUST00000053640
AA Change: D21G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: D21G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 53 69 N/A INTRINSIC
Meta Mutation Damage Score 0.1036 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.1%
  • 10x: 98.0%
  • 20x: 96.7%
Validation Efficiency 100% (68/68)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
2610021A01Rik T G 7: 41,275,858 (GRCm39) I520M probably damaging Het
Ackr4 A G 9: 103,976,831 (GRCm39) F39L probably damaging Het
Adgre5 C T 8: 84,460,126 (GRCm39) S92N probably damaging Het
Akr1c6 G A 13: 4,486,372 (GRCm39) E60K probably benign Het
Bcl7c T A 7: 127,306,503 (GRCm39) N96I possibly damaging Het
Brca1 A T 11: 101,422,969 (GRCm39) S106R possibly damaging Het
C6 A T 15: 4,764,717 (GRCm39) T138S probably benign Het
Cul3 T C 1: 80,300,564 (GRCm39) probably benign Het
Dnah8 T A 17: 31,022,217 (GRCm39) M3939K probably damaging Het
Dock4 T A 12: 40,681,626 (GRCm39) probably benign Het
Dsc2 T G 18: 20,183,116 (GRCm39) T101P probably damaging Het
Dynlt1b T C 17: 6,697,649 (GRCm39) probably benign Het
E330013P04Rik A G 19: 60,150,354 (GRCm39) noncoding transcript Het
Fggy A G 4: 95,585,238 (GRCm39) E39G probably benign Het
Fhip1a A G 3: 85,572,797 (GRCm39) V952A possibly damaging Het
Fmo6 A T 1: 162,753,795 (GRCm39) C116S probably benign Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gmps A G 3: 63,883,743 (GRCm39) probably benign Het
Gnmt A G 17: 47,037,271 (GRCm39) L171P probably damaging Het
Hnrnpm G A 17: 33,868,976 (GRCm39) R523C probably damaging Het
Inpp5a T C 7: 139,105,654 (GRCm39) Y202H probably damaging Het
Kank3 C T 17: 34,036,450 (GRCm39) S106F probably damaging Het
Lmcd1 A G 6: 112,305,658 (GRCm39) D253G probably benign Het
Lrrk2 A T 15: 91,613,284 (GRCm39) I803F possibly damaging Het
Mybpc2 T C 7: 44,156,311 (GRCm39) K834R probably benign Het
Mycbp2 A T 14: 103,500,129 (GRCm39) probably benign Het
Myh4 A T 11: 67,133,689 (GRCm39) N243Y probably damaging Het
Myorg A G 4: 41,497,996 (GRCm39) Y545H probably damaging Het
Nfatc1 C T 18: 80,679,110 (GRCm39) M759I probably benign Het
Nipal4 A G 11: 46,041,139 (GRCm39) I352T possibly damaging Het
Nomo1 A G 7: 45,683,329 (GRCm39) E25G possibly damaging Het
Or10j27 A G 1: 172,958,020 (GRCm39) S255P probably benign Het
Or13a19 T C 7: 139,903,065 (GRCm39) I151T probably benign Het
Or14j7 A G 17: 38,234,591 (GRCm39) I45V probably damaging Het
Or1e32 T C 11: 73,705,050 (GRCm39) N286S probably damaging Het
Or4c116 T A 2: 88,942,419 (GRCm39) I146L probably benign Het
Or5p66 T C 7: 107,886,264 (GRCm39) D23G probably benign Het
Pabpn1l A G 8: 123,349,183 (GRCm39) V78A probably benign Het
Pde6b T A 5: 108,568,203 (GRCm39) I327N possibly damaging Het
Phrf1 T C 7: 140,834,768 (GRCm39) probably benign Het
Pkm C T 9: 59,575,818 (GRCm39) probably benign Het
Plxna2 G A 1: 194,482,863 (GRCm39) V1519I probably benign Het
Ppp2cb T C 8: 34,105,689 (GRCm39) probably null Het
Prickle2 A G 6: 92,387,984 (GRCm39) Y473H probably benign Het
Prpf3 A G 3: 95,751,535 (GRCm39) W389R probably damaging Het
Psme4 G A 11: 30,765,264 (GRCm39) E544K possibly damaging Het
Relb A T 7: 19,345,767 (GRCm39) D395E probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf213 A G 11: 119,307,389 (GRCm39) N683S probably benign Het
Rtel1 T C 2: 180,964,596 (GRCm39) C102R probably benign Het
Sel1l3 C T 5: 53,301,379 (GRCm39) probably benign Het
Slc8a2 A G 7: 15,878,887 (GRCm39) T458A probably benign Het
Smc3 T A 19: 53,629,340 (GRCm39) M931K probably benign Het
Sorbs2 T C 8: 46,249,539 (GRCm39) V795A probably benign Het
Tgm3 A G 2: 129,854,326 (GRCm39) S2G probably benign Het
Tpbpa T C 13: 61,087,867 (GRCm39) T75A probably damaging Het
Trub1 A G 19: 57,473,495 (GRCm39) probably benign Het
Uggt2 A G 14: 119,328,604 (GRCm39) probably null Het
Ugt2a3 A G 5: 87,475,065 (GRCm39) V393A possibly damaging Het
Vav3 T A 3: 109,470,151 (GRCm39) M532K possibly damaging Het
Zfp616 A T 11: 73,975,850 (GRCm39) K706N probably damaging Het
Zkscan1 T C 5: 138,091,432 (GRCm39) F55S probably damaging Het
Other mutations in Adrb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TCAGCACACGCCAAGGAGATTATG -3'
(R):5'- CGTCACTGGGCAATTCCCCTAAAG -3'

Sequencing Primer
(F):5'- CGCCAAGGAGATTATGAAGTAGTTG -3'
(R):5'- GGCAATTCCCCTAAAGTCTGG -3'
Posted On 2013-11-07