Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Adrb2'

288860

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

62310887-62313030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62312078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 249 (E249G)

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: E249G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: E249G

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Timm44	T	A	8: 4,317,692 (GRCm39)	R210W	probably damaging	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	Het

Other mutations in Adrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16