Mutagenetix > Incidental Mutation

Incidental Mutation 'R7236:Adra1b'

562836

Institutional Source

Beutler Lab

Gene Symbol

Adra1b

Ensembl Gene

ENSMUSG00000050541

Gene Name

adrenergic receptor, alpha 1b

Synonyms

alpha1B-adrenergic receptor

MMRRC Submission

045306-MU

Accession Numbers

Essential gene?

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

Stock #

R7236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43665433-43792037 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43667151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 362 (I362T)

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: I362T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070200
Gene: ENSMUSG00000050541
AA Change: I362T

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

possibly damaging
Transcript: ENSMUST00000139906
AA Change: I362T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123435
Gene: ENSMUSG00000050541
AA Change: I362T

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: I362T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129200
Gene: ENSMUSG00000050541
AA Change: I362T

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	T	19: 4,921,644 (GRCm39)	V179I	probably benign	Het
B3galnt1	T	C	3: 69,482,950 (GRCm39)	K104E	probably benign	Het
Bnc2	T	C	4: 84,474,101 (GRCm39)	Y15C	probably benign	Het
C2cd2l	C	A	9: 44,228,960 (GRCm39)	A124S	possibly damaging	Het
Camsap3	T	A	8: 3,654,116 (GRCm39)	F595L	probably damaging	Het
Cct2	A	T	10: 116,897,464 (GRCm39)	D93E	probably benign	Het
Cd200l2	A	T	16: 45,348,030 (GRCm39)	I169N	possibly damaging	Het
Cemip	A	T	7: 83,598,012 (GRCm39)		probably null	Het
Ciapin1	T	C	8: 95,550,338 (GRCm39)	T34A		Het
Dop1a	G	A	9: 86,397,431 (GRCm39)	V912I	probably damaging	Het
Efcab3	A	T	11: 104,790,093 (GRCm39)	Q2832L	probably benign	Het
Eif3c	T	C	7: 126,151,495 (GRCm39)	T610A	possibly damaging	Het
Ephb3	A	G	16: 21,033,231 (GRCm39)	R106G	probably damaging	Het
Ephx3	T	A	17: 32,404,328 (GRCm39)		probably null	Het
Etv2	A	T	7: 30,334,455 (GRCm39)	S93T	probably benign	Het
Fbxo34	T	A	14: 47,767,841 (GRCm39)	D451E	probably benign	Het
Fmo9	A	G	1: 166,504,140 (GRCm39)	F141L	probably damaging	Het
Fryl	T	C	5: 73,265,821 (GRCm39)	K500R	possibly damaging	Het
Gfra3	T	C	18: 34,828,884 (GRCm39)	D170G	probably damaging	Het
Gnptg	T	C	17: 25,458,897 (GRCm39)	N34S	possibly damaging	Het
Golga5	T	A	12: 102,441,034 (GRCm39)		probably null	Het
Herc2	G	T	7: 55,734,828 (GRCm39)	L139F	probably benign	Het
Ikzf2	T	A	1: 69,578,240 (GRCm39)	N423I	probably benign	Het
Il31ra	A	T	13: 112,660,439 (GRCm39)	*717R	probably null	Het
Itga2	G	T	13: 115,014,227 (GRCm39)	Q234K	probably benign	Het
Kcnt1	A	T	2: 25,799,951 (GRCm39)		probably null	Het
Kif19b	G	T	5: 140,457,400 (GRCm39)	A390S	probably benign	Het
Man2a2	T	C	7: 80,018,653 (GRCm39)	S69G	probably damaging	Het
Mccc1	A	G	3: 36,037,944 (GRCm39)	V294A	probably benign	Het
Mphosph8	T	A	14: 56,911,754 (GRCm39)	I259K	possibly damaging	Het
Mrpl15	A	T	1: 4,846,711 (GRCm39)	N288K	probably benign	Het
Msantd2	T	C	9: 37,400,965 (GRCm39)	W116R	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mtmr10	T	C	7: 63,963,932 (GRCm39)		probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Nhsl1	A	G	10: 18,401,512 (GRCm39)	K879E	probably damaging	Het
Or8j3c	A	T	2: 86,253,533 (GRCm39)	C162*	probably null	Het
Pak6	A	G	2: 118,523,909 (GRCm39)	T355A	probably benign	Het
Patj	C	T	4: 98,299,294 (GRCm39)	R139C	probably damaging	Het
Pcdhb3	C	T	18: 37,434,505 (GRCm39)	A157V	probably damaging	Het
Phkg1	C	A	5: 129,895,802 (GRCm39)	D150Y	probably damaging	Het
Ppp2r5c	C	T	12: 110,432,323 (GRCm39)	S45L	probably benign	Het
Prl4a1	A	C	13: 28,202,556 (GRCm39)	T44P	probably benign	Het
Ptpro	G	A	6: 137,345,335 (GRCm39)	V114M	probably damaging	Het
Pwp1	A	G	10: 85,715,147 (GRCm39)	N211S	probably benign	Het
Ralgapb	A	G	2: 158,282,747 (GRCm39)	D504G	probably benign	Het
Rock2	A	T	12: 16,979,003 (GRCm39)	I98F	probably damaging	Het
Senp6	G	T	9: 80,040,247 (GRCm39)	V785L	probably damaging	Het
Simc1	A	G	13: 54,672,609 (GRCm39)	D319G	probably benign	Het
Tas2r105	A	T	6: 131,663,723 (GRCm39)	I235N	probably damaging	Het
Tas2r110	A	T	6: 132,845,667 (GRCm39)	M233L	possibly damaging	Het
Tmem260	C	T	14: 48,746,647 (GRCm39)		probably null	Het
Trank1	G	T	9: 111,202,142 (GRCm39)	V1590L	possibly damaging	Het
Tsc2	A	T	17: 24,842,568 (GRCm39)	M286K	possibly damaging	Het
Ttn	T	C	2: 76,697,796 (GRCm39)	T202A		Het
Ttyh1	A	G	7: 4,136,663 (GRCm39)	N424D	probably benign	Het
Usp24	T	A	4: 106,263,502 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,585,204 (GRCm39)	P2620Q	probably benign	Het
Vmn1r45	A	G	6: 89,910,133 (GRCm39)	M279T	probably benign	Het
Vmn2r115	T	A	17: 23,578,576 (GRCm39)	I683K	probably benign	Het
Vmn2r34	T	C	7: 7,684,750 (GRCm39)	K481E	probably damaging	Het
Vmn2r54	T	A	7: 12,365,917 (GRCm39)	H339L	possibly damaging	Het
Vmn2r94	T	A	17: 18,477,811 (GRCm39)	N200I	possibly damaging	Het
Wdfy3	A	G	5: 101,984,074 (GRCm39)	Y3493H	probably damaging	Het
Wdr5b	A	G	16: 35,862,208 (GRCm39)	D109G	possibly damaging	Het
Zfp286	A	T	11: 62,674,496 (GRCm39)		probably null	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
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'- TTGAAAGTGAAGAGTGGCCC -3'
(R):5'- GTACTAACCAACTGCTGTCTGTC -3'

Sequencing Primer
(F):5'- GTTCCACGACCCAGGTATC -3'
(R):5'- AACCAACTGCTGTCTGTCTTTGTG -3'

Posted On

2019-06-26