Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Adrb3'

686668

Institutional Source

Beutler Lab

Gene Symbol

Adrb3

Ensembl Gene

ENSMUSG00000031489

Gene Name

adrenergic receptor, beta 3

Synonyms

Beta-3 AR, beta 3-AR, Beta-3 adrenoceptor, Adrb-3, beta3-adrenergic receptor

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27715804-27720833 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27717947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 167 (F167L)

Ref Sequence

ENSEMBL: ENSMUSP00000113732 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081438] [ENSMUST00000117565] [ENSMUST00000121838] [ENSMUST00000209299]

AlphaFold

P25962

Predicted Effect

probably damaging
Transcript: ENSMUST00000081438
AA Change: F167L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080162
Gene: ENSMUSG00000031489
AA Change: F167L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	43	240	1.1e-6	PFAM
Pfam:7TM_GPCR_Srsx	45	357	2.3e-14	PFAM
Pfam:7tm_1	51	343	9.3e-79	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117565
AA Change: F167L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113732
Gene: ENSMUSG00000031489
AA Change: F167L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	43	240	1.8e-6	PFAM
Pfam:7TM_GPCR_Srsx	45	357	2.4e-14	PFAM
Pfam:7tm_1	51	343	4.9e-70	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000121838
AA Change: F167L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113006
Gene: ENSMUSG00000031489
AA Change: F167L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	43	240	1.1e-6	PFAM
Pfam:7TM_GPCR_Srsx	45	357	2.3e-14	PFAM
Pfam:7tm_1	51	343	9.3e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209299

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of beta adrenergic receptors, which mediate catecholamine-induced activation of adenylate cyclase through the action of G proteins. This receptor is located mainly in the adipose tissue and is involved in the regulation of lipolysis and thermogenesis. [provided by RefSeq, Feb 2009]
PHENOTYPE: Homozygotes for targeted null mutations develop greater adiposity, especially on a high-fat diet, and are unresponsive to the beta3-adrenergic receptor agonist, CL316,243. [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
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Btbd10	T	C	7: 112,951,057 (GRCm39)	N11S	possibly damaging	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Cfap65	T	C	1: 74,959,552 (GRCm39)	E866G	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Jade2	T	A	11: 51,708,454 (GRCm39)	Q572L	probably benign	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nle1	C	G	11: 82,797,275 (GRCm39)	E146Q	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Steap2	T	C	5: 5,723,480 (GRCm39)	S467G	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	probably benign	Het

Other mutations in Adrb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0639:Adrb3	UTSW	8	27,718,293 (GRCm39)	missense	probably damaging	0.97
R0786:Adrb3	UTSW	8	27,716,880 (GRCm39)	unclassified	probably benign
R1370:Adrb3	UTSW	8	27,717,798 (GRCm39)	splice site	probably null
R1449:Adrb3	UTSW	8	27,717,415 (GRCm39)	missense	probably damaging	1.00
R1874:Adrb3	UTSW	8	27,717,591 (GRCm39)	missense	probably damaging	1.00
R3426:Adrb3	UTSW	8	27,718,209 (GRCm39)	missense	probably damaging	1.00
R3428:Adrb3	UTSW	8	27,718,209 (GRCm39)	missense	probably damaging	1.00
R4941:Adrb3	UTSW	8	27,717,450 (GRCm39)	missense	probably damaging	1.00
R4989:Adrb3	UTSW	8	27,717,798 (GRCm39)	missense	probably damaging	1.00
R4994:Adrb3	UTSW	8	27,717,855 (GRCm39)	splice site	probably null
R5133:Adrb3	UTSW	8	27,717,798 (GRCm39)	missense	probably damaging	1.00
R5134:Adrb3	UTSW	8	27,717,798 (GRCm39)	missense	probably damaging	1.00
R5162:Adrb3	UTSW	8	27,717,348 (GRCm39)	missense	probably benign	0.25
R5342:Adrb3	UTSW	8	27,716,809 (GRCm39)	nonsense	probably null
R5656:Adrb3	UTSW	8	27,717,405 (GRCm39)	missense	probably damaging	0.99
R8159:Adrb3	UTSW	8	27,718,099 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- ACACTCGAGCATAGACGAAG -3'
(R):5'- ACTCCTCGTAATGCCACCAG -3'

Sequencing Primer
(F):5'- CTCGAGCATAGACGAAGAGCATC -3'
(R):5'- AACTGGTTGCGAACTGTGGAC -3'

Posted On

2021-11-19