Incidental Mutation 'R1603:Adrb2'
ID 176292
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 039640-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1603 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 62310887-62313030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62312579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 82 (M82K)
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: M82K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: M82K

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 0.8274 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 96% (65/68)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik G A 3: 68,777,546 (GRCm39) S169N probably benign Het
Ace T A 11: 105,862,925 (GRCm39) S315R probably benign Het
Adamtsl1 A G 4: 86,333,767 (GRCm39) I1491V probably benign Het
Aebp2 A G 6: 140,587,979 (GRCm39) N350D probably damaging Het
Ankrd42 T C 7: 92,268,899 (GRCm39) probably benign Het
Asap1 A T 15: 64,001,106 (GRCm39) C492S probably damaging Het
Atp8b3 C A 10: 80,361,619 (GRCm39) A768S probably benign Het
Chga T A 12: 102,530,866 (GRCm39) probably null Het
Clca4b A G 3: 144,627,780 (GRCm39) V397A probably benign Het
Cntnap5a A C 1: 116,339,831 (GRCm39) T697P possibly damaging Het
Col12a1 T C 9: 79,520,244 (GRCm39) Q2810R probably damaging Het
Dchs1 G T 7: 105,411,977 (GRCm39) R1380S probably benign Het
Dgkg T A 16: 22,388,909 (GRCm39) probably benign Het
Dlgap3 G A 4: 127,089,021 (GRCm39) G206R probably damaging Het
Dnah5 A G 15: 28,295,131 (GRCm39) probably benign Het
Dnah5 A T 15: 28,449,326 (GRCm39) I4243L probably benign Het
Eif1ad16 C A 12: 87,985,134 (GRCm39) E136D probably benign Het
Fbxw22 G T 9: 109,207,915 (GRCm39) P452H probably benign Het
Fgl1 T A 8: 41,650,055 (GRCm39) D242V probably damaging Het
Gba2 C T 4: 43,567,823 (GRCm39) G794R probably damaging Het
Gimap7 A T 6: 48,700,864 (GRCm39) D150V probably damaging Het
Gm5334 T C 7: 68,268,620 (GRCm39) V13A probably benign Het
Grk5 T C 19: 61,057,800 (GRCm39) F167L probably benign Het
Ice1 A G 13: 70,751,472 (GRCm39) L1538P probably benign Het
Idh2 T G 7: 79,748,906 (GRCm39) E125A probably damaging Het
Kmt2a A T 9: 44,752,858 (GRCm39) probably null Het
Kras A T 6: 145,170,871 (GRCm39) L168* probably null Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Mak T C 13: 41,195,582 (GRCm39) D377G possibly damaging Het
Matn2 T C 15: 34,388,914 (GRCm39) C335R probably damaging Het
Mcoln2 C T 3: 145,885,977 (GRCm39) S276F probably damaging Het
Morc3 C A 16: 93,663,391 (GRCm39) N531K probably benign Het
Obp2a G A 2: 25,592,757 (GRCm39) S175N probably benign Het
Or2ak6 T C 11: 58,593,286 (GRCm39) V253A probably benign Het
Or4n4b T G 14: 50,536,491 (GRCm39) I92L possibly damaging Het
Or5an1b A T 19: 12,299,348 (GRCm39) V281E probably damaging Het
Osbpl3 C A 6: 50,300,073 (GRCm39) K510N probably damaging Het
Pcnx2 G A 8: 126,566,365 (GRCm39) S1026F probably damaging Het
Pom121l2 A T 13: 22,167,514 (GRCm39) D595V probably damaging Het
Poteg T A 8: 27,938,033 (GRCm39) M1K probably null Het
Rbl1 G A 2: 157,017,579 (GRCm39) L547F possibly damaging Het
Rpap3 T C 15: 97,599,002 (GRCm39) T82A possibly damaging Het
Sema7a G A 9: 57,867,959 (GRCm39) D512N probably benign Het
Sgpl1 C T 10: 60,941,230 (GRCm39) V294M possibly damaging Het
Slc22a28 A G 19: 8,040,674 (GRCm39) S526P probably damaging Het
Spata31e2 T A 1: 26,724,650 (GRCm39) R177W probably damaging Het
Tent2 G A 13: 93,312,073 (GRCm39) A209V probably benign Het
Trim30b T G 7: 104,015,019 (GRCm39) Q123P possibly damaging Het
Trpm5 A G 7: 142,638,946 (GRCm39) L275P probably benign Het
Ttc33 A G 15: 5,219,275 (GRCm39) E71G probably damaging Het
Unc13d T C 11: 115,964,481 (GRCm39) T288A possibly damaging Het
Unc93a T A 17: 13,328,521 (GRCm39) E444V probably benign Het
Usf3 T A 16: 44,038,535 (GRCm39) M1005K probably benign Het
Vmn2r91 T C 17: 18,326,405 (GRCm39) I230T probably benign Het
Wdr49 G A 3: 75,304,177 (GRCm39) Q448* probably null Het
Zfp939 T A 7: 39,122,695 (GRCm39) noncoding transcript 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
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
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'- ACTTGAAGGGCGATGTGATAGCAAC -3'
(R):5'- GGGCAATTCCCCTAAAGTCTGGTG -3'

Sequencing Primer
(F):5'- TGTGATAGCAACATAGCGATCC -3'
(R):5'- GAACGACAGCGACTTCTTG -3'
Posted On 2014-04-24