Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Adrb2'

530932

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

044870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (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 62312624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 67 (V67A)

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: V67A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062256
Gene: ENSMUSG00000045730
AA Change: V67A

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

0.3051

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Ces1e	T	A	8: 93,941,756 (GRCm39)	N238I	probably damaging	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	probably 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
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'- CTCTGGTACTTGAAGGGCGATG -3'
(R):5'- ACTTCTTGCTGGCACCCAAC -3'

Sequencing Primer
(F):5'- TGTGATAGCAACATAGCGATCC -3'
(R):5'- TGGCACCCAACGGAAGC -3'

Posted On

2018-08-01