Mutagenetix > Incidental Mutation

Incidental Mutation 'R7064:Adrb1'

548486

Institutional Source

Beutler Lab

Gene Symbol

Adrb1

Ensembl Gene

ENSMUSG00000035283

Gene Name

adrenergic receptor, beta 1

Synonyms

Adrb-1, beta 1-AR

MMRRC Submission

045160-MU

Accession Numbers

Essential gene?

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

Stock #

R7064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56710549-56713582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56711456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 218 (F218S)

Ref Sequence

ENSEMBL: ENSMUSP00000040847 (fasta)

Gene Model

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

AlphaFold

P34971

Predicted Effect

probably damaging
Transcript: ENSMUST00000038949
AA Change: F218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040847
Gene: ENSMUSG00000035283
AA Change: F218S

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	C	8: 60,984,746 (GRCm39)	I263T	probably damaging	Het
Adamtsl1	C	T	4: 86,260,278 (GRCm39)	P830S	possibly damaging	Het
Ahnak2	T	C	12: 112,746,919 (GRCm39)		probably benign	Het
Arsj	T	A	3: 126,231,986 (GRCm39)	V244E	probably damaging	Het
Atm	T	C	9: 53,419,181 (GRCm39)	E757G	probably benign	Het
AU040320	A	G	4: 126,685,865 (GRCm39)	D147G	probably benign	Het
Btnl10	A	T	11: 58,810,134 (GRCm39)	M92L	possibly damaging	Het
Chd6	T	C	2: 160,791,983 (GRCm39)	D2458G	probably damaging	Het
Cntn3	T	C	6: 102,250,772 (GRCm39)	I259V	probably damaging	Het
Ctns	A	G	11: 73,077,218 (GRCm39)	V250A	probably benign	Het
Cxxc1	T	A	18: 74,353,678 (GRCm39)		probably null	Het
Cyp2a4	A	T	7: 26,011,732 (GRCm39)	M318L	probably benign	Het
Dchs1	A	G	7: 105,412,392 (GRCm39)	L1302P	probably damaging	Het
Decr1	C	A	4: 15,945,392 (GRCm39)			Het
Dmbx1	T	C	4: 115,775,465 (GRCm39)	N272D	probably damaging	Het
Dsel	C	A	1: 111,790,577 (GRCm39)		probably benign	Het
Dspp	A	C	5: 104,324,804 (GRCm39)	D389A	possibly damaging	Het
Ero1a	T	C	14: 45,544,049 (GRCm39)	T52A	probably damaging	Het
Fam186a	T	C	15: 99,839,557 (GRCm39)	E2229G	unknown	Het
Gabrd	C	T	4: 155,472,803 (GRCm39)	V127M	probably damaging	Het
Gpc2	A	T	5: 138,277,172 (GRCm39)	F85Y	probably damaging	Het
Gucy2g	A	G	19: 55,198,764 (GRCm39)	L793S	probably benign	Het
Irag1	C	G	7: 110,495,061 (GRCm39)	E455Q	probably damaging	Het
Itpr3	G	C	17: 27,308,269 (GRCm39)	G298R	probably damaging	Het
Kalrn	A	T	16: 34,038,261 (GRCm39)	C1024S	probably damaging	Het
Krt40	T	C	11: 99,430,954 (GRCm39)	Y185C	probably benign	Het
Lmo7	G	A	14: 102,121,615 (GRCm39)	D227N	probably damaging	Het
Mmrn1	T	A	6: 60,965,524 (GRCm39)	L1184*	probably null	Het
Or10s1	T	A	9: 39,986,109 (GRCm39)	Y173N	probably damaging	Het
Or14j2	T	A	17: 37,885,634 (GRCm39)	R227W	probably damaging	Het
Or4c15	T	A	2: 88,759,853 (GRCm39)	M269L	probably benign	Het
Parp9	T	G	16: 35,774,042 (GRCm39)	V338G	probably benign	Het
Pcdh15	G	A	10: 74,466,446 (GRCm39)	E888K	possibly damaging	Het
Pcdh9	C	T	14: 94,123,585 (GRCm39)	E862K	probably damaging	Het
Prkdc	A	G	16: 15,608,317 (GRCm39)	T3040A	probably benign	Het
Qser1	T	C	2: 104,617,464 (GRCm39)	E1026G	probably damaging	Het
Rnf20	C	T	4: 49,644,580 (GRCm39)	R282*	probably null	Het
Rpgrip1l	T	A	8: 91,990,148 (GRCm39)	K765*	probably null	Het
Rprd2	G	A	3: 95,672,328 (GRCm39)	T1025M	probably damaging	Het
Scn4a	A	G	11: 106,212,983 (GRCm39)	Y1341H	possibly damaging	Het
Scn5a	C	G	9: 119,318,977 (GRCm39)	D1554H	probably damaging	Het
Septin14	T	C	5: 129,774,870 (GRCm39)	I102V	probably benign	Het
Septin4	A	G	11: 87,481,193 (GRCm39)	T378A	probably benign	Het
Siglec1	C	T	2: 130,925,834 (GRCm39)	G291R	probably benign	Het
Sik2	A	G	9: 50,818,720 (GRCm39)	V418A	probably damaging	Het
Slc9a5	A	G	8: 106,076,078 (GRCm39)	T24A	possibly damaging	Het
Spata31d1b	T	C	13: 59,863,955 (GRCm39)	S368P	probably benign	Het
Stip1	T	C	19: 7,012,925 (GRCm39)	D53G	probably benign	Het
Stk36	T	C	1: 74,649,979 (GRCm39)	W245R	probably damaging	Het
Stk39	A	T	2: 68,189,156 (GRCm39)		probably null	Het
Tacr2	T	C	10: 62,097,276 (GRCm39)	M252T	probably damaging	Het
Tasor	C	T	14: 27,194,288 (GRCm39)	P1163S	probably benign	Het
Terb1	A	T	8: 105,215,186 (GRCm39)	N263K	probably benign	Het
Tgm5	T	C	2: 120,883,995 (GRCm39)	M333V	probably benign	Het
Tmem45a	T	C	16: 56,642,767 (GRCm39)	M135V	probably benign	Het
Trmt13	T	A	3: 116,376,346 (GRCm39)	K348N	probably damaging	Het
Trmt2a	A	T	16: 18,070,868 (GRCm39)	M534L	probably damaging	Het
Ttll13	G	A	7: 79,906,778 (GRCm39)	R513K	probably null	Het
Vmn1r228	T	A	17: 20,997,285 (GRCm39)	I78L	probably benign	Het
Washc3	T	C	10: 88,081,635 (GRCm39)	V173A	possibly damaging	Het
Zc2hc1b	A	T	10: 13,047,049 (GRCm39)	C21S	probably damaging	Het
Zfp944	T	A	17: 22,558,560 (GRCm39)	H229L	probably damaging	Het
Zfp985	T	A	4: 147,667,573 (GRCm39)	I147N	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
R1652:Adrb1	UTSW	19	56,711,705 (GRCm39)	missense	possibly damaging	0.67
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
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'- ATTGAGACCCTGTGTGTCATCG -3'
(R):5'- AGTGTCTTGAGCGCCTTCTG -3'

Sequencing Primer
(F):5'- TGTGTGTCATCGCCCTGGAC -3'
(R):5'- GTTGGCCAGCGAGTCTG -3'

Posted On

2019-05-13