Mutagenetix > Incidental Mutation

Incidental Mutation 'R7883:Adrb2'

608921

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

045935-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7883 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62310887-62313030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62312447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 126 (V126A)

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: V126A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: V126A

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

Meta Mutation Damage Score

0.1068

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (79/80)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	A	T	4: 124,744,440 (GRCm39)	W5R	unknown	Het
Abcb6	A	T	1: 75,154,660 (GRCm39)	S258R	possibly damaging	Het
Abcc10	A	G	17: 46,618,027 (GRCm39)	V1082A	probably benign	Het
Apol11a	A	G	15: 77,400,774 (GRCm39)	E87G	probably damaging	Het
Arhgap45	T	A	10: 79,863,423 (GRCm39)	C755*	probably null	Het
Arl13b	A	T	16: 62,647,629 (GRCm39)	I93K	probably damaging	Het
Aspm	A	G	1: 139,406,405 (GRCm39)	K1764R	possibly damaging	Het
Atp8b5	A	G	4: 43,342,471 (GRCm39)	I381V	probably damaging	Het
Atxn2	A	G	5: 121,940,180 (GRCm39)	H985R	possibly damaging	Het
Bms1	G	T	6: 118,365,735 (GRCm39)	N1150K	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Camta2	T	C	11: 70,566,037 (GRCm39)	D749G	probably damaging	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cep152	G	A	2: 125,454,978 (GRCm39)	A274V	possibly damaging	Het
Chd7	A	G	4: 8,826,504 (GRCm39)	N956S	probably damaging	Het
Cpt1c	A	T	7: 44,613,438 (GRCm39)		probably null	Het
Cttn	C	T	7: 143,999,555 (GRCm39)	V338I	probably benign	Het
Dab2ip	G	A	2: 35,610,218 (GRCm39)	G811D	possibly damaging	Het
Dmtf1	T	C	5: 9,190,397 (GRCm39)	T106A	probably benign	Het
Dync2h1	T	C	9: 7,005,566 (GRCm39)	E3768G	possibly damaging	Het
Exoc1	T	A	5: 76,709,229 (GRCm39)	D612E	probably damaging	Het
Fat2	T	C	11: 55,144,190 (GRCm39)		probably null	Het
Fat4	G	A	3: 39,035,968 (GRCm39)	E3207K	probably damaging	Het
Fbxw18	A	G	9: 109,517,474 (GRCm39)	Y410H	probably damaging	Het
Fgfr3	T	A	5: 33,891,235 (GRCm39)	S518T	probably damaging	Het
Fzr1	G	A	10: 81,204,469 (GRCm39)	T377M	probably damaging	Het
Gcnt3	T	A	9: 69,941,453 (GRCm39)	I372F	probably damaging	Het
Gm10577	A	T	4: 100,877,719 (GRCm39)	Y59N	unknown	Het
Gm826	A	G	2: 160,169,213 (GRCm39)	L32P	unknown	Het
Grid1	T	G	14: 35,172,259 (GRCm39)		probably null	Het
Hid1	T	A	11: 115,245,435 (GRCm39)	T457S	probably damaging	Het
Hsd3b5	A	G	3: 98,529,456 (GRCm39)	V58A	probably benign	Het
Iqcj	A	G	3: 67,954,641 (GRCm39)	K49E	probably damaging	Het
Itpk1	A	G	12: 102,572,434 (GRCm39)	V93A	probably benign	Het
Kcnt2	A	G	1: 140,450,888 (GRCm39)	I722M	probably damaging	Het
Klhl36	T	C	8: 120,601,217 (GRCm39)	V412A	possibly damaging	Het
Krt18	G	A	15: 101,936,885 (GRCm39)	V58M	possibly damaging	Het
Lats2	T	C	14: 57,934,657 (GRCm39)	Y691C	probably damaging	Het
Lrp1b	A	T	2: 40,555,141 (GRCm39)	I4095N		Het
Map1a	A	G	2: 121,135,853 (GRCm39)	E2223G	probably damaging	Het
Med25	A	G	7: 44,541,232 (GRCm39)	F94L	possibly damaging	Het
Mertk	A	G	2: 128,618,265 (GRCm39)	I499V	probably benign	Het
Mrps12	A	G	7: 28,439,568 (GRCm39)	L49P	probably benign	Het
Nwd1	T	A	8: 73,393,754 (GRCm39)	V339D	probably damaging	Het
Obscn	G	A	11: 58,960,835 (GRCm39)	Q3159*	probably null	Het
Patj	G	A	4: 98,499,372 (GRCm39)	V1349I	probably benign	Het
Pcdha8	T	A	18: 37,126,196 (GRCm39)	V226D	probably damaging	Het
Pdgfd	T	A	9: 6,293,939 (GRCm39)		probably null	Het
Pdzd7	A	C	19: 45,018,679 (GRCm39)	I600S	probably damaging	Het
Pgpep1l	G	A	7: 67,888,897 (GRCm39)	R45*	probably null	Het
Pik3c3	T	C	18: 30,407,416 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	A	T	15: 44,392,522 (GRCm39)	D1619V	probably damaging	Het
Pkp1	A	G	1: 135,812,641 (GRCm39)		probably null	Het
Ppan	T	A	9: 20,802,777 (GRCm39)	I311N	probably benign	Het
Ppih	C	A	4: 119,167,987 (GRCm39)	G175W	probably damaging	Het
Ppp1r8	G	T	4: 132,562,026 (GRCm39)	Q65K	probably damaging	Het
Psmd5	T	A	2: 34,746,524 (GRCm39)	K351M	possibly damaging	Het
Pth1r	T	C	9: 110,560,626 (GRCm39)	K53R	probably benign	Het
Ptprn	A	T	1: 75,239,007 (GRCm39)	F9L	probably damaging	Het
Rgl3	T	C	9: 21,892,723 (GRCm39)	I288V	probably benign	Het
Sds	A	G	5: 120,617,278 (GRCm39)	I45V	possibly damaging	Het
Sfxn4	A	T	19: 60,847,187 (GRCm39)		probably null	Het
Sis	A	T	3: 72,828,329 (GRCm39)	C1220S	possibly damaging	Het
Slc22a16	T	G	10: 40,479,660 (GRCm39)	D577E	probably benign	Het
Slc25a10	T	A	11: 120,385,340 (GRCm39)	M43K	possibly damaging	Het
Smpd1	T	C	7: 105,206,192 (GRCm39)	I440T	probably damaging	Het
Spata6l	A	C	19: 28,906,013 (GRCm39)	S297A	probably benign	Het
St6galnac6	A	G	2: 32,504,941 (GRCm39)	N151S	probably benign	Het
Taf4	G	T	2: 179,571,088 (GRCm39)	L742M	probably damaging	Het
Tctn1	A	G	5: 122,402,375 (GRCm39)	S20P	possibly damaging	Het
Tkfc	A	T	19: 10,572,394 (GRCm39)		probably null	Het
Tmem270	A	G	5: 134,931,681 (GRCm39)	V87A	possibly damaging	Het
Tpo	T	C	12: 30,153,169 (GRCm39)	H395R	probably damaging	Het
Tufm	T	C	7: 126,088,114 (GRCm39)	F206L	possibly damaging	Het
Tulp2	A	G	7: 45,166,188 (GRCm39)		probably null	Het
Tulp3	G	A	6: 128,303,807 (GRCm39)	T264M	probably damaging	Het
Uqcrc2	A	G	7: 120,244,440 (GRCm39)	D194G	possibly damaging	Het
Vill	C	A	9: 118,894,589 (GRCm39)	C415*	probably null	Het
Zfp799	A	G	17: 33,039,256 (GRCm39)	C337R	probably damaging	Het
Zhx2	A	G	15: 57,685,270 (GRCm39)	E213G	possibly 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
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
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'- CCTCGGTGTAACAATCGATAGC -3'
(R):5'- ATCACAGCCATTGCCAAGTTC -3'

Sequencing Primer
(F):5'- CGGTGTAACAATCGATAGCTTTCTTG -3'
(R):5'- TTGCCAAGTTCGAGCGACTAC -3'

Posted On

2019-12-20