Mutagenetix > Incidental Mutation

Incidental Mutation 'R6073:Adrb2'

482610

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

044234-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6073 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62310887-62313030 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62312537 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 96 (M96K)

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: M96K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: M96K

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

0.1101

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.5%

Validation Efficiency

97% (57/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	C	1: 58,143,668 (GRCm39)		probably null	Het
Bnip5	A	T	17: 29,123,597 (GRCm39)	V367D	probably damaging	Het
C3	C	T	17: 57,513,223 (GRCm39)	G183R	probably null	Het
Cad	A	G	5: 31,219,906 (GRCm39)	T753A	possibly damaging	Het
Cc2d2a	C	T	5: 43,887,317 (GRCm39)	T1249M	probably damaging	Het
Cd74	G	A	18: 60,944,558 (GRCm39)		probably null	Het
Cenpc1	A	G	5: 86,206,012 (GRCm39)		probably null	Het
Cenpe	T	A	3: 134,965,834 (GRCm39)	L2104*	probably null	Het
Cttnbp2	A	G	6: 18,434,232 (GRCm39)	I542T	probably damaging	Het
Cttnbp2	T	C	6: 18,448,368 (GRCm39)	D97G	probably benign	Het
Dnah10	A	G	5: 124,896,274 (GRCm39)	D3546G	probably benign	Het
Dscaml1	G	A	9: 45,361,881 (GRCm39)	V214I	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Epb41l2	T	G	10: 25,377,730 (GRCm39)	H597Q	probably damaging	Het
Erbin	G	A	13: 103,981,429 (GRCm39)	Q499*	probably null	Het
Erc2	A	T	14: 27,733,593 (GRCm39)	I556F	probably benign	Het
Fscn2	G	T	11: 120,252,613 (GRCm39)	E27*	probably null	Het
Fsd1l	A	G	4: 53,679,994 (GRCm39)	T231A	probably damaging	Het
G6pc1	T	A	11: 101,258,802 (GRCm39)	N60K	probably benign	Het
Gm43302	A	G	5: 105,438,825 (GRCm39)	V21A	probably damaging	Het
Heatr3	G	T	8: 88,864,768 (GRCm39)	A41S	probably benign	Het
Hrct1	T	C	4: 43,727,543 (GRCm39)		probably benign	Het
Ihh	T	C	1: 74,990,438 (GRCm39)		probably benign	Het
Jph3	A	T	8: 122,480,291 (GRCm39)	Y323F	probably damaging	Het
Kcnj5	T	C	9: 32,229,096 (GRCm39)	D34G	probably damaging	Het
Magi2	G	A	5: 20,774,286 (GRCm39)	E231K	probably damaging	Het
Muc5b	A	C	7: 141,412,025 (GRCm39)	Y1657S	unknown	Het
Muc5b	G	A	7: 141,402,797 (GRCm39)	C667Y	unknown	Het
Myo10	G	A	15: 25,736,728 (GRCm39)	C459Y	probably damaging	Het
Nemp1	A	G	10: 127,525,112 (GRCm39)	K40E	probably benign	Het
Nipsnap1	T	C	11: 4,838,895 (GRCm39)	F107S	possibly damaging	Het
Ntrk1	T	C	3: 87,698,677 (GRCm39)		probably null	Het
Pabpc1	A	G	15: 36,600,895 (GRCm39)	I305T	probably damaging	Het
Piezo2	A	G	18: 63,145,716 (GRCm39)	F2736S	probably damaging	Het
Pnldc1	T	C	17: 13,109,250 (GRCm39)	Y450C	probably null	Het
Polr2g	A	T	19: 8,774,673 (GRCm39)	V70E	probably damaging	Het
Pramel23	T	C	4: 143,424,838 (GRCm39)	I202V	probably damaging	Het
Prpf8	T	C	11: 75,384,848 (GRCm39)		probably null	Het
Rfxap	T	C	3: 54,714,708 (GRCm39)	Y130C	probably damaging	Het
Rpl3l	A	G	17: 24,949,861 (GRCm39)	E20G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Slc39a10	T	C	1: 46,871,772 (GRCm39)	D389G	possibly damaging	Het
Sorbs1	T	C	19: 40,303,101 (GRCm39)	H496R	probably damaging	Het
Spast	G	A	17: 74,680,300 (GRCm39)	V420M	probably damaging	Het
Spata13	C	T	14: 60,987,470 (GRCm39)	T876I	probably damaging	Het
Spata31d1a	T	A	13: 59,850,808 (GRCm39)	N440I	probably damaging	Het
Tdrd1	G	T	19: 56,831,655 (GRCm39)	E349*	probably null	Het
Tie1	A	G	4: 118,339,587 (GRCm39)	V398A	probably benign	Het
Tmem255b	T	A	8: 13,506,958 (GRCm39)	L229Q	probably damaging	Het
Tmem59	T	A	4: 107,050,598 (GRCm39)		probably null	Het
Trim3	G	A	7: 105,266,746 (GRCm39)	R479C	probably damaging	Het
Ucp2	G	A	7: 100,147,338 (GRCm39)	V131M	possibly damaging	Het
Vars1	A	G	17: 35,220,505 (GRCm39)	D29G	probably benign	Het
Vmn2r43	T	C	7: 8,258,184 (GRCm39)	K343R	probably benign	Het
Washc5	T	C	15: 59,207,019 (GRCm39)	K1085E	possibly damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp963	A	T	8: 70,195,853 (GRCm39)	C86*	probably null	Het
Zfp977	A	G	7: 42,230,165 (GRCm39)	I120T	probably benign	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
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'- CACTCGGGCCTTATTCTTGG -3'
(R):5'- GGAACGACAGCGACTTCTTG -3'

Posted On

2017-07-14