Mutagenetix > Incidental Mutation

Incidental Mutation 'R7402:Adra1b'

574281

Institutional Source

Beutler Lab

Gene Symbol

Adra1b

Ensembl Gene

ENSMUSG00000050541

Gene Name

adrenergic receptor, alpha 1b

Synonyms

alpha1B-adrenergic receptor

MMRRC Submission

045484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7402 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43665433-43792037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43666845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 464 (D464G)

Ref Sequence

ENSEMBL: ENSMUSP00000070200 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067258
AA Change: D464G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000070200
Gene: ENSMUSG00000050541
AA Change: D464G

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 benign
Transcript: ENSMUST00000139906

SMART Domains

Protein: ENSMUSP00000123435
Gene: ENSMUSG00000050541

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

possibly damaging
Transcript: ENSMUST00000167574
AA Change: D464G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129200
Gene: ENSMUSG00000050541
AA Change: D464G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,943,487 (GRCm39)	P12Q	probably damaging	Het
Acsf3	A	G	8: 123,507,163 (GRCm39)	Y152C	probably damaging	Het
Adam22	T	A	5: 8,145,049 (GRCm39)	Q803L	possibly damaging	Het
Adamtsl3	G	A	7: 82,227,825 (GRCm39)	V1337I	probably damaging	Het
Alpk3	T	A	7: 80,726,660 (GRCm39)	I115K	probably benign	Het
Amdhd2	A	G	17: 24,380,657 (GRCm39)	S96P		Het
Ankib1	T	G	5: 3,819,586 (GRCm39)	D111A	probably benign	Het
Arhgef2	A	G	3: 88,540,873 (GRCm39)	D216G	probably damaging	Het
Astn1	A	T	1: 158,380,425 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,913,668 (GRCm39)	Y107*	probably null	Het
Atrn	T	A	2: 130,789,520 (GRCm39)	W328R	probably damaging	Het
Atxn7	A	T	14: 14,095,427 (GRCm38)	H375L	probably damaging	Het
Btaf1	A	T	19: 36,980,915 (GRCm39)	N1579Y	probably damaging	Het
Cacna1b	A	T	2: 24,497,671 (GRCm39)	L2079Q	probably benign	Het
Ccdc102a	T	C	8: 95,629,981 (GRCm39)	K520R	probably damaging	Het
Cd2ap	T	C	17: 43,116,054 (GRCm39)	H602R	possibly damaging	Het
Cdkn2aip	A	G	8: 48,164,408 (GRCm39)	V435A	possibly damaging	Het
Cenpf	A	T	1: 189,391,575 (GRCm39)	Y735*	probably null	Het
Cep350	T	A	1: 155,803,961 (GRCm39)	I1041L	probably benign	Het
Ckap4	A	G	10: 84,363,863 (GRCm39)	V400A	probably damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Coq10b	A	C	1: 55,100,500 (GRCm39)	K61N	probably benign	Het
Csmd2	G	A	4: 128,215,889 (GRCm39)	S548N		Het
Csmd2	A	C	4: 128,215,888 (GRCm39)	S548R		Het
Ctif	A	G	18: 75,744,807 (GRCm39)	I99T	probably benign	Het
Ctns	T	G	11: 73,083,903 (GRCm39)	T40P	possibly damaging	Het
Cyp11b1	C	T	15: 74,712,674 (GRCm39)	R129H	probably damaging	Het
Cyp2c68	A	T	19: 39,729,318 (GRCm39)	N56K	probably benign	Het
D6Wsu163e	A	G	6: 126,938,968 (GRCm39)	K401R	probably damaging	Het
Dstn	T	A	2: 143,780,368 (GRCm39)	C23S	probably benign	Het
Fam72a	A	T	1: 131,466,613 (GRCm39)	E132D	probably damaging	Het
Fam72a	G	T	1: 131,466,614 (GRCm39)	E133*	probably null	Het
Gbp8	T	A	5: 105,179,161 (GRCm39)	I113F	probably damaging	Het
Gm3095	A	T	14: 15,170,332 (GRCm39)	R60S	possibly damaging	Het
Gpa33	A	T	1: 165,980,263 (GRCm39)	M109L	probably damaging	Het
Grik2	A	G	10: 49,411,493 (GRCm39)	L215P	probably damaging	Het
Gucy2g	A	C	19: 55,194,725 (GRCm39)	F897L	probably damaging	Het
Hinfp	A	G	9: 44,209,314 (GRCm39)	L295P	probably damaging	Het
Ift122	T	C	6: 115,871,283 (GRCm39)	V526A	probably benign	Het
Ighv5-12	T	C	12: 113,665,853 (GRCm39)	T82A	probably benign	Het
Il18rap	T	A	1: 40,564,111 (GRCm39)	S76R	probably benign	Het
Itga6	A	T	2: 71,683,897 (GRCm39)	N1045I	probably benign	Het
Kctd21	A	T	7: 96,996,970 (GRCm39)	I148F	possibly damaging	Het
Kif28	T	A	1: 179,567,644 (GRCm39)	H42L	probably benign	Het
Kmt2c	A	C	5: 25,600,418 (GRCm39)	C326W	probably damaging	Het
Knl1	T	A	2: 118,925,707 (GRCm39)	L1912*	probably null	Het
Lrfn1	A	T	7: 28,158,947 (GRCm39)	I289F	probably damaging	Het
Lrriq1	T	C	10: 103,057,185 (GRCm39)	K205R	possibly damaging	Het
Mbd5	A	T	2: 49,147,566 (GRCm39)	N592I	probably damaging	Het
Mbl2	A	G	19: 30,216,802 (GRCm39)	N205D	possibly damaging	Het
Mcm4	C	A	16: 15,455,042 (GRCm39)	M1I	probably null	Het
Mgat4a	T	A	1: 37,493,865 (GRCm39)	H327L	probably damaging	Het
Miox	A	G	15: 89,219,206 (GRCm39)	D16G	probably benign	Het
Mvk	C	A	5: 114,594,039 (GRCm39)	P298Q	possibly damaging	Het
Nol6	A	G	4: 41,118,699 (GRCm39)	L726P	probably damaging	Het
Nos1	T	C	5: 118,087,880 (GRCm39)	I1381T	probably benign	Het
Nup98	A	T	7: 101,784,144 (GRCm39)	S1063T	probably benign	Het
Obscn	T	G	11: 58,886,275 (GRCm39)	M7862L	unknown	Het
Obsl1	T	C	1: 75,464,348 (GRCm39)	T1653A	probably benign	Het
Odr4	A	G	1: 150,262,107 (GRCm39)		probably null	Het
Or4c105	G	T	2: 88,647,687 (GRCm39)	M57I	probably damaging	Het
Or8g53	T	A	9: 39,683,260 (GRCm39)	T279S	probably benign	Het
Or8u9	A	G	2: 86,001,546 (GRCm39)	I205T	probably benign	Het
Or9q2	C	T	19: 13,772,358 (GRCm39)	V206I	probably damaging	Het
Pcdhb20	A	G	18: 37,638,005 (GRCm39)	Y177C	probably benign	Het
Pcdhb3	A	C	18: 37,434,657 (GRCm39)	I208L	probably benign	Het
Phlpp1	G	T	1: 106,317,420 (GRCm39)	G1214W	probably damaging	Het
Ppp4r3a	A	T	12: 101,025,053 (GRCm39)	S149T	possibly damaging	Het
Pxdn	T	C	12: 30,052,438 (GRCm39)	C872R	probably damaging	Het
Rarb	A	G	14: 16,548,419 (GRCm38)	C101R	probably damaging	Het
Rcor3	A	C	1: 191,812,283 (GRCm39)	V114G	probably benign	Het
Rnpepl1	A	G	1: 92,847,372 (GRCm39)	Q653R	probably benign	Het
Rpap2	T	A	5: 107,768,324 (GRCm39)	Y387*	probably null	Het
Rttn	C	T	18: 89,004,035 (GRCm39)	T343M	possibly damaging	Het
Samd11	T	C	4: 156,333,230 (GRCm39)	T333A	probably benign	Het
Six5	T	C	7: 18,828,968 (GRCm39)	L136P	probably damaging	Het
Slc12a5	T	A	2: 164,824,852 (GRCm39)	M419K	probably benign	Het
Slc22a21	T	C	11: 53,851,226 (GRCm39)	M179V	probably benign	Het
Slc35a4	A	G	18: 36,813,570 (GRCm39)	D6G	unknown	Het
Spdye4c	A	T	2: 128,434,261 (GRCm39)	M1L	probably benign	Het
Svep1	A	T	4: 58,069,699 (GRCm39)	C2696S	possibly damaging	Het
Tceanc2	T	C	4: 107,004,893 (GRCm39)	N85S	probably benign	Het
Teddm2	G	C	1: 153,726,344 (GRCm39)	L124V	probably benign	Het
Teddm2	A	T	1: 153,726,343 (GRCm39)	L124Q	probably damaging	Het
Tgfbr1	T	A	4: 47,405,623 (GRCm39)	W409R	probably damaging	Het
Tkt	A	G	14: 30,280,755 (GRCm39)	D62G	probably damaging	Het
Tnrc6b	T	A	15: 80,768,501 (GRCm39)	V1054D	probably damaging	Het
Trpm7	C	A	2: 126,641,126 (GRCm39)	L1564F	probably damaging	Het
Vmn1r43	A	T	6: 89,846,803 (GRCm39)	C228S	probably benign	Het
Vmn2r106	T	C	17: 20,487,883 (GRCm39)	R839G	probably damaging	Het
Vmn2r5	G	A	3: 64,403,176 (GRCm39)	T523I	probably benign	Het
Vwa3b	C	T	1: 37,153,678 (GRCm39)	Q507*	probably null	Het
Wrn	C	G	8: 33,738,994 (GRCm39)	W1278S	probably benign	Het
Zfp281	T	G	1: 136,553,190 (GRCm39)	L56R	probably damaging	Het
Zfp407	G	A	18: 84,579,661 (GRCm39)	T484I	probably benign	Het
Zfp451	T	C	1: 33,852,843 (GRCm39)	T24A	probably benign	Het
Zfp607b	T	A	7: 27,392,919 (GRCm39)	F16I	probably damaging	Het
Zfp638	T	A	6: 83,905,670 (GRCm39)	V41E	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
R6787:Adra1b	UTSW	11	43,726,242 (GRCm39)	missense	probably damaging	1.00
R7236:Adra1b	UTSW	11	43,667,151 (GRCm39)	missense	possibly damaging	0.67
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'- TGTCTACTCAGGACTGACACACTC -3'
(R):5'- ATGACAGTGGCAGCTGCATG -3'

Sequencing Primer
(F):5'- AACCCCCGATGTGTGTGTG -3'
(R):5'- GCATGAGCGGCAGCCAG -3'

Posted On

2019-09-13