Mutagenetix > Incidental Mutation

Incidental Mutation 'R6787:Adra1b'

532445

Institutional Source

Beutler Lab

Gene Symbol

Adra1b

Ensembl Gene

ENSMUSG00000050541

Gene Name

adrenergic receptor, alpha 1b

Synonyms

alpha1B-adrenergic receptor

MMRRC Submission

044901-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R6787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43665433-43792037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43726242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 225 (R225L)

Ref Sequence

ENSEMBL: ENSMUSP00000129200 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067258] [ENSMUST00000139906] [ENSMUST00000167574]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067258
AA Change: R225L

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

SMART Domains

Protein: ENSMUSP00000070200
Gene: ENSMUSG00000050541
AA Change: R225L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	54	182	1.3e-6	PFAM
Pfam:7TM_GPCR_Srsx	56	363	3.7e-17	PFAM
Pfam:7tm_1	62	348	7.9e-84	PFAM
low complexity region	368	381	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139906
AA Change: R225L

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

SMART Domains

Protein: ENSMUSP00000123435
Gene: ENSMUSG00000050541
AA Change: R225L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	54	183	4.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	56	363	1.8e-17	PFAM
Pfam:7tm_1	62	348	2.7e-84	PFAM
low complexity region	368	381	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167574
AA Change: R225L

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

SMART Domains

Protein: ENSMUSP00000129200
Gene: ENSMUSG00000050541
AA Change: R225L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	54	182	8.5e-7	PFAM
Pfam:7TM_GPCR_Srsx	56	363	3.7e-17	PFAM
Pfam:7tm_1	62	348	1.2e-79	PFAM
low complexity region	368	381	N/A	INTRINSIC

Meta Mutation Damage Score

0.4196

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted mutations that inactivate the gene affect atrial contractility and left ventricle function, suggesting their use in modeling chronic heart failure in humans. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,126,768 (GRCm39)	T32I	probably benign	Het
4930486L24Rik	T	A	13: 61,000,922 (GRCm39)	I205L	probably benign	Het
Aatk	C	T	11: 119,901,508 (GRCm39)	V963M	probably damaging	Het
Adrb1	T	C	19: 56,711,021 (GRCm39)	V73A	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
BC035947	G	T	1: 78,475,527 (GRCm39)	P335Q	possibly damaging	Het
C2cd3	T	C	7: 100,104,553 (GRCm39)	F2189L	probably benign	Het
Capn9	A	G	8: 125,342,924 (GRCm39)	I635V	probably benign	Het
Cep55	T	A	19: 38,046,374 (GRCm39)	D42E	probably benign	Het
Cftr	T	A	6: 18,274,607 (GRCm39)	Y878*	probably null	Het
Clpb	A	T	7: 101,312,866 (GRCm39)		probably benign	Het
Cpeb3	T	C	19: 37,022,089 (GRCm39)	I569V	possibly damaging	Het
Cpne6	A	T	14: 55,752,701 (GRCm39)	D297V	probably damaging	Het
Ddhd1	T	C	14: 45,894,976 (GRCm39)	T165A	probably benign	Het
Fam98b	T	C	2: 117,093,402 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,561,744 (GRCm39)	N921S	probably benign	Het
Gbf1	T	A	19: 46,260,211 (GRCm39)	V1039E	probably benign	Het
Gmip	A	G	8: 70,266,436 (GRCm39)	E212G	probably damaging	Het
Gpcpd1	C	T	2: 132,379,758 (GRCm39)		probably benign	Het
Gtf2ird1	A	T	5: 134,392,766 (GRCm39)	N796K	probably damaging	Het
Hadhb	T	C	5: 30,360,247 (GRCm39)		probably benign	Het
Itga4	T	A	2: 79,119,609 (GRCm39)	S472T	probably damaging	Het
Kcna4	G	A	2: 107,125,670 (GRCm39)	E135K	possibly damaging	Het
Kmt2c	G	T	5: 25,480,737 (GRCm39)		probably null	Het
Lama1	T	C	17: 68,091,020 (GRCm39)	I1620T	unknown	Het
Lins1	A	G	7: 66,363,902 (GRCm39)	E594G	probably benign	Het
Lrrc38	T	A	4: 143,096,364 (GRCm39)	M225K	probably benign	Het
Mphosph9	A	G	5: 124,399,090 (GRCm39)	I975T	probably damaging	Het
Mrgprh	T	C	17: 13,095,874 (GRCm39)	F38S	probably benign	Het
Myo1h	G	A	5: 114,458,714 (GRCm39)	G150R	probably damaging	Het
Oas2	T	G	5: 120,876,863 (GRCm39)	I391L	possibly damaging	Het
Or4a70	T	A	2: 89,324,378 (GRCm39)	R93*	probably null	Het
Or5p72	T	C	7: 108,021,889 (GRCm39)	I37T	possibly damaging	Het
Or6c3b	T	A	10: 129,527,391 (GRCm39)	D173V	possibly damaging	Het
Or7e178	T	C	9: 20,247,221 (GRCm39)	D14G	probably benign	Het
Pdcd5	T	C	7: 35,342,063 (GRCm39)	T182A	probably damaging	Het
Pdlim7	T	C	13: 55,656,810 (GRCm39)	D48G	probably damaging	Het
Polr3b	A	C	10: 84,464,489 (GRCm39)		probably null	Het
Psmd5	C	T	2: 34,747,649 (GRCm39)		probably null	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Sdhb	T	C	4: 140,703,501 (GRCm39)	Y208H	probably damaging	Het
Serinc5	G	A	13: 92,842,740 (GRCm39)	V397I	possibly damaging	Het
Sik2	A	T	9: 50,909,834 (GRCm39)	M73K	possibly damaging	Het
Slc41a1	A	G	1: 131,770,487 (GRCm39)		probably null	Het
Slco1a1	T	C	6: 141,882,213 (GRCm39)	I119V	probably benign	Het
Srd5a1	T	C	13: 69,759,418 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,754,948 (GRCm39)	I1111V	probably benign	Het
Stxbp6	G	T	12: 44,949,779 (GRCm39)		probably null	Het
Tbc1d19	A	G	5: 53,992,591 (GRCm39)		probably null	Het
Tnxb	A	T	17: 34,929,710 (GRCm39)	T2815S	probably benign	Het
Txnip	T	A	3: 96,467,623 (GRCm39)	I363N	probably damaging	Het
Zfp442	A	T	2: 150,251,499 (GRCm39)	N134K	possibly damaging	Het

Other mutations in Adra1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01775:Adra1b	APN	11	43,726,128 (GRCm39)	missense	probably damaging	0.98
R1827:Adra1b	UTSW	11	43,726,476 (GRCm39)	missense	probably damaging	1.00
R2073:Adra1b	UTSW	11	43,726,698 (GRCm39)	missense	probably damaging	1.00
R4982:Adra1b	UTSW	11	43,726,057 (GRCm39)	missense	probably damaging	1.00
R6418:Adra1b	UTSW	11	43,667,028 (GRCm39)	missense	probably benign	0.17
R6763:Adra1b	UTSW	11	43,666,833 (GRCm39)	missense	possibly damaging	0.88
R7236:Adra1b	UTSW	11	43,667,151 (GRCm39)	missense	possibly damaging	0.67
R7402:Adra1b	UTSW	11	43,666,845 (GRCm39)	missense	possibly damaging	0.95
R7491:Adra1b	UTSW	11	43,726,794 (GRCm39)	missense	probably benign	0.13
R7819:Adra1b	UTSW	11	43,726,194 (GRCm39)	missense	probably damaging	1.00
R8289:Adra1b	UTSW	11	43,726,315 (GRCm39)	missense	probably damaging	1.00
R8857:Adra1b	UTSW	11	43,727,092 (GRCm39)	start gained	probably benign
R9098:Adra1b	UTSW	11	43,667,218 (GRCm39)	missense	probably damaging	1.00
R9102:Adra1b	UTSW	11	43,667,056 (GRCm39)	missense	possibly damaging	0.61
R9194:Adra1b	UTSW	11	43,726,263 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGACAGCTATGGAACTCCTGGG -3'
(R):5'- GATACTCTCTGCAGTACCCCAC -3'

Sequencing Primer
(F):5'- AACTCCTGGGGTTGTGGCC -3'
(R):5'- CGCAGGAAGGCCATCTTG -3'

Posted On

2018-08-29