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) question?
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

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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