Mutagenetix > Incidental Mutation

Incidental Mutation 'R1652:Adrb1'

188828

Institutional Source

Beutler Lab

Gene Symbol

Adrb1

Ensembl Gene

ENSMUSG00000035283

Gene Name

adrenergic receptor, beta 1

Synonyms

Adrb-1, beta 1-AR

MMRRC Submission

039688-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.392) question?

Stock #

R1652 (G1)

Quality Score

155

Status

Not validated

Chromosome

Chromosomal Location

56710549-56713582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56711705 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 301 (S301L)

Ref Sequence

ENSEMBL: ENSMUSP00000040847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038949]

AlphaFold

P34971

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038949
AA Change: S301L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040847
Gene: ENSMUSG00000035283
AA Change: S301L

Domain	Start	End	E-Value	Type
low complexity region	19	54	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	66	266	2.2e-9	PFAM
Pfam:7TM_GPCR_Srsx	69	380	1.4e-18	PFAM
Pfam:7tm_1	75	366	6.1e-82	PFAM
Pfam:7TM_GPCR_Srv	96	382	5.9e-11	PFAM
low complexity region	407	430	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for targeted mutations that inactivate the gene die prenatally, with the penetrance of lethality showing strain dependence. Surviving knockouts appear normal, but lack the chronotropic and inotropic responses seen in wild-type mice when beta-AR agonists such as isoproterenol are administered. [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
Adam2	T	A	14: 66,314,700 (GRCm39)	E37V	probably benign	Het
Adamts7	A	G	9: 90,071,697 (GRCm39)	D664G	probably damaging	Het
Adamtsl5	A	G	10: 80,178,011 (GRCm39)	V256A	probably benign	Het
Akap9	A	G	5: 4,127,210 (GRCm39)	Y3686C	probably damaging	Het
Ap3b2	A	G	7: 81,123,147 (GRCm39)	S456P	probably damaging	Het
Atp1a4	T	C	1: 172,082,470 (GRCm39)	Y124C	probably damaging	Het
Bdkrb1	A	T	12: 105,570,502 (GRCm39)	T23S	probably damaging	Het
Cacna1g	A	G	11: 94,318,230 (GRCm39)	Y1468H	probably damaging	Het
Cep170b	A	G	12: 112,699,947 (GRCm39)	D152G	probably damaging	Het
Cers4	T	A	8: 4,566,908 (GRCm39)		probably null	Het
Cplane1	G	T	15: 8,230,630 (GRCm39)	R969L	probably damaging	Het
Cyp2t4	A	T	7: 26,856,815 (GRCm39)	D285V	possibly damaging	Het
Ddx56	A	T	11: 6,217,679 (GRCm39)	L14Q	probably damaging	Het
Dennd2d	C	A	3: 106,394,317 (GRCm39)	R63S	probably benign	Het
Dnah7b	T	A	1: 46,214,550 (GRCm39)	L1105*	probably null	Het
Eef1e1	A	T	13: 38,840,081 (GRCm39)	L75I	possibly damaging	Het
Eif1ad11	T	A	12: 87,993,853 (GRCm39)	V27E	probably benign	Het
Fam76b	A	G	9: 13,747,188 (GRCm39)	S191G	probably benign	Het
Fat1	T	A	8: 45,478,215 (GRCm39)	Y2420*	probably null	Het
Fbxw18	T	A	9: 109,519,695 (GRCm39)	L270F	probably benign	Het
Fech	T	A	18: 64,591,269 (GRCm39)	H385L	probably benign	Het
Fkbp4	A	T	6: 128,413,637 (GRCm39)	I2N	probably damaging	Het
Gda	A	T	19: 21,378,042 (GRCm39)	M339K	probably damaging	Het
Gdpgp1	T	A	7: 79,889,112 (GRCm39)	M381K	probably benign	Het
Glyctk	C	A	9: 106,034,356 (GRCm39)	V173L	probably damaging	Het
Gtf2ird1	G	A	5: 134,424,567 (GRCm39)	P393L	probably damaging	Het
Kat2a	T	C	11: 100,599,437 (GRCm39)	N517D	probably damaging	Het
Krt84	G	A	15: 101,434,398 (GRCm39)	S523F	possibly damaging	Het
Lama1	G	A	17: 68,114,841 (GRCm39)	R2330Q	probably damaging	Het
Lamc1	C	T	1: 153,125,392 (GRCm39)	G597E	probably damaging	Het
Lekr1	A	T	3: 65,591,508 (GRCm39)	S82C	probably benign	Het
Lgi3	T	C	14: 70,768,656 (GRCm39)	F51S	probably damaging	Het
Lrba	T	C	3: 86,447,245 (GRCm39)	S2030P	probably damaging	Het
Map4k5	A	G	12: 69,877,201 (GRCm39)		probably null	Het
Mcoln2	C	A	3: 145,869,390 (GRCm39)	R32S	possibly damaging	Het
Metap1	A	T	3: 138,168,151 (GRCm39)	F324L	probably damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Ncf4	T	A	15: 78,145,234 (GRCm39)	M274K	possibly damaging	Het
Nup205	T	G	6: 35,215,901 (GRCm39)	V1747G	probably benign	Het
Or10d3	G	A	9: 39,461,591 (GRCm39)	T192I	probably benign	Het
Or52r1c	A	G	7: 102,735,013 (GRCm39)	D91G	probably benign	Het
Or5ae1	T	C	7: 84,565,728 (GRCm39)	V247A	probably damaging	Het
Pbx3	C	T	2: 34,114,568 (GRCm39)	G122D	probably damaging	Het
Plcb3	A	G	19: 6,932,664 (GRCm39)	F1034L	probably benign	Het
Ppp2r1a	G	A	17: 21,176,236 (GRCm39)	V153I	probably benign	Het
Prss33	C	G	17: 24,054,115 (GRCm39)	M30I	probably benign	Het
Prss33	A	T	17: 24,054,116 (GRCm39)	M30K	probably benign	Het
R3hdm2	G	A	10: 127,330,960 (GRCm39)	S793N	probably benign	Het
Rab11fip5	C	T	6: 85,325,279 (GRCm39)	V343M	probably damaging	Het
Rere	A	G	4: 150,696,522 (GRCm39)		probably benign	Het
Rims1	G	T	1: 22,363,090 (GRCm39)	P52Q	probably damaging	Het
Scpep1	G	T	11: 88,843,260 (GRCm39)	S66*	probably null	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Shc3	A	T	13: 51,626,875 (GRCm39)	H129Q	probably damaging	Het
Slc22a20	A	T	19: 6,022,970 (GRCm39)	M391K	probably damaging	Het
Smurf1	A	T	5: 144,817,474 (GRCm39)	I712K	probably damaging	Het
Snx25	T	A	8: 46,502,510 (GRCm39)	I629L	probably damaging	Het
Supt16	A	C	14: 52,414,637 (GRCm39)	V425G	probably benign	Het
Tnik	G	A	3: 28,658,442 (GRCm39)	V576I	probably benign	Het
Trcg1	A	C	9: 57,152,856 (GRCm39)	D551A	probably damaging	Het
Ubald2	A	G	11: 116,325,178 (GRCm39)	N15S	probably damaging	Het
Usf1	T	C	1: 171,245,317 (GRCm39)	I243T	probably damaging	Het
Vmn2r19	A	T	6: 123,292,656 (GRCm39)	I233F	possibly damaging	Het
Vmn2r63	T	C	7: 42,577,635 (GRCm39)	N301S	probably benign	Het
Wdr27	A	G	17: 15,137,532 (GRCm39)	F419L	probably benign	Het

Other mutations in Adrb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03237:Adrb1	APN	19	56,711,800 (GRCm39)	missense	probably damaging	1.00
R0267:Adrb1	UTSW	19	56,711,923 (GRCm39)	nonsense	probably null
R0352:Adrb1	UTSW	19	56,711,293 (GRCm39)	missense	probably damaging	1.00
R4662:Adrb1	UTSW	19	56,711,206 (GRCm39)	missense	probably damaging	0.99
R5447:Adrb1	UTSW	19	56,711,519 (GRCm39)	missense	probably benign	0.45
R6155:Adrb1	UTSW	19	56,711,336 (GRCm39)	missense	probably damaging	1.00
R6787:Adrb1	UTSW	19	56,711,021 (GRCm39)	missense	probably damaging	0.99
R6980:Adrb1	UTSW	19	56,712,046 (GRCm39)	missense	probably benign	0.27
R7064:Adrb1	UTSW	19	56,711,456 (GRCm39)	missense	probably damaging	1.00
R7560:Adrb1	UTSW	19	56,711,120 (GRCm39)	missense	probably damaging	0.99
R8822:Adrb1	UTSW	19	56,711,849 (GRCm39)	missense	probably damaging	0.99
R9515:Adrb1	UTSW	19	56,711,825 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCGCTACCAGAGTTTGCTGACGC -3'
(R):5'- TAGCCCAGCCAGTTGAAGAAGACG -3'

Sequencing Primer
(F):5'- TGCGATTTCGTCACCAACAG -3'
(R):5'- GAAGAGGCGATCCGGCAC -3'

Posted On

2014-05-09