Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03155:Adra1d'

411250

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adra1d

Ensembl Gene

ENSMUSG00000027335

Gene Name

adrenergic receptor, alpha 1d

Synonyms

Gpcr8, Adra1, Adra-1, Adra1a, alpha1D-AR

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL03155

Quality Score

Status

Chromosome

Chromosomal Location

131387770-131404203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131388001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 518 (R518H)

Ref Sequence

ENSEMBL: ENSMUSP00000099473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103184]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000103184
AA Change: R518H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: R518H

Domain	Start	End	E-Value	Type
low complexity region	13	57	N/A	INTRINSIC
low complexity region	65	83	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	98	228	7.4e-7	PFAM
Pfam:7TM_GPCR_Srsx	101	411	8.9e-14	PFAM
Pfam:7tm_1	107	396	4.5e-78	PFAM

Coding Region Coverage

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-1D-adrenergic receptor. Similar to alpha-1B-adrenergic receptor gene, this gene comprises 2 exons and a single intron that interrupts the coding region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display hypotension or reduced rearing behavior in a novel environment, decreased wheel-running activity during the night, and reduced hyperlocomotion after amphetamine administration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr7a5	T	A	4: 139,041,837 (GRCm39)	C190*	probably null	Het
Cct2	A	T	10: 116,896,576 (GRCm39)	L209Q	probably damaging	Het
Chordc1	T	A	9: 18,215,616 (GRCm39)	S123T	possibly damaging	Het
Crtap	T	C	9: 114,209,117 (GRCm39)	D309G	possibly damaging	Het
Csf2	T	C	11: 54,138,497 (GRCm39)	T115A	possibly damaging	Het
Dgkb	T	A	12: 38,189,458 (GRCm39)	I287N	probably damaging	Het
Dyrk1b	G	A	7: 27,882,112 (GRCm39)	D98N	probably benign	Het
Eif4g1	T	C	16: 20,511,167 (GRCm39)	S1550P	probably damaging	Het
Fam83e	A	G	7: 45,376,499 (GRCm39)	E404G	possibly damaging	Het
Fryl	G	A	5: 73,234,038 (GRCm39)	P1496S	probably benign	Het
Fsip1	A	T	2: 118,082,220 (GRCm39)	N71K	probably benign	Het
Gm5092	A	T	17: 21,314,970 (GRCm39)		noncoding transcript	Het
Gnb1l	T	A	16: 18,359,282 (GRCm39)		probably null	Het
Got1l1	T	C	8: 27,689,360 (GRCm39)	Y233C	probably damaging	Het
Katnbl1	T	A	2: 112,239,577 (GRCm39)		probably null	Het
Kcnn2	A	G	18: 45,818,382 (GRCm39)	E493G	probably damaging	Het
Kif26b	C	T	1: 178,701,693 (GRCm39)	R691W	probably damaging	Het
Lrp2	A	T	2: 69,285,796 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,241,861 (GRCm39)	S107P	probably damaging	Het
Mrc1	A	G	2: 14,335,912 (GRCm39)	N1433D	probably benign	Het
Mycbp2	G	A	14: 103,392,889 (GRCm39)	S3114L	probably benign	Het
Naip6	T	A	13: 100,452,932 (GRCm39)	H43L	possibly damaging	Het
Nin	A	T	12: 70,078,544 (GRCm39)	C1681S	probably damaging	Het
Nnmt	C	T	9: 48,503,352 (GRCm39)	V225M	probably damaging	Het
Or2ag1b	A	T	7: 106,288,446 (GRCm39)	M164K	probably damaging	Het
Or4c125	A	T	2: 89,170,310 (GRCm39)	M112K	probably damaging	Het
Phf21a	T	G	2: 92,150,611 (GRCm39)	V64G	probably damaging	Het
Ptprd	A	T	4: 75,984,456 (GRCm39)	S800R	possibly damaging	Het
Scarf2	C	T	16: 17,625,413 (GRCm39)	P823S	probably benign	Het
Scn5a	T	C	9: 119,341,248 (GRCm39)	T1212A	possibly damaging	Het
Slc38a10	C	T	11: 119,995,945 (GRCm39)	V1043I	probably damaging	Het
Stxbp5	A	T	10: 9,692,034 (GRCm39)	L370Q	probably null	Het
Tas1r2	T	C	4: 139,396,467 (GRCm39)	V602A	possibly damaging	Het
Tatdn1	T	C	15: 58,788,045 (GRCm39)		probably benign	Het
Tdrd6	A	T	17: 43,936,398 (GRCm39)	L1550Q	probably damaging	Het
Tet3	G	T	6: 83,345,365 (GRCm39)	R1556S	probably damaging	Het
Tnpo2	T	A	8: 85,771,709 (GRCm39)	I249N	probably benign	Het
Tnxb	G	T	17: 34,932,569 (GRCm39)	V2263F	probably damaging	Het
Trim75	C	T	8: 65,435,992 (GRCm39)	V153M	possibly damaging	Het
Ttc21a	T	A	9: 119,773,042 (GRCm39)		probably null	Het
Tuft1	T	A	3: 94,541,821 (GRCm39)	I61L	possibly damaging	Het
Usp43	T	C	11: 67,767,315 (GRCm39)	D680G	probably damaging	Het
Vac14	A	G	8: 111,362,975 (GRCm39)	I274V	possibly damaging	Het
Vmn1r222	T	A	13: 23,416,863 (GRCm39)	R117W	probably damaging	Het
Vmn1r83	T	C	7: 12,055,617 (GRCm39)	M147V	probably benign	Het
Vmn2r43	T	A	7: 8,258,068 (GRCm39)	I382L	possibly damaging	Het
Vmn2r63	C	T	7: 42,552,878 (GRCm39)	V793I	probably damaging	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Yeats2	T	C	16: 20,048,323 (GRCm39)		probably null	Het

Other mutations in Adra1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Adra1d	APN	2	131,403,597 (GRCm39)	missense	possibly damaging	0.83
IGL02198:Adra1d	APN	2	131,388,412 (GRCm39)	missense	probably damaging	0.99
IGL02901:Adra1d	APN	2	131,403,524 (GRCm39)	missense	probably damaging	1.00
BB006:Adra1d	UTSW	2	131,403,600 (GRCm39)	nonsense	probably null
BB016:Adra1d	UTSW	2	131,403,600 (GRCm39)	nonsense	probably null
R0238:Adra1d	UTSW	2	131,388,134 (GRCm39)	missense	probably benign	0.01
R0239:Adra1d	UTSW	2	131,388,134 (GRCm39)	missense	probably benign	0.01
R0239:Adra1d	UTSW	2	131,388,134 (GRCm39)	missense	probably benign	0.01
R1568:Adra1d	UTSW	2	131,388,092 (GRCm39)	missense	possibly damaging	0.88
R1806:Adra1d	UTSW	2	131,388,069 (GRCm39)	missense	probably benign	0.31
R2192:Adra1d	UTSW	2	131,403,289 (GRCm39)	missense	probably damaging	1.00
R2510:Adra1d	UTSW	2	131,404,055 (GRCm39)	nonsense	probably null
R3913:Adra1d	UTSW	2	131,404,075 (GRCm39)	missense	probably damaging	0.98
R4660:Adra1d	UTSW	2	131,403,062 (GRCm39)	missense	probably damaging	1.00
R5303:Adra1d	UTSW	2	131,388,169 (GRCm39)	missense	possibly damaging	0.87
R5355:Adra1d	UTSW	2	131,403,007 (GRCm39)	missense	probably damaging	1.00
R5428:Adra1d	UTSW	2	131,403,323 (GRCm39)	missense	probably damaging	1.00
R6277:Adra1d	UTSW	2	131,403,083 (GRCm39)	missense	probably damaging	1.00
R6392:Adra1d	UTSW	2	131,403,529 (GRCm39)	missense	probably damaging	1.00
R7200:Adra1d	UTSW	2	131,403,170 (GRCm39)	missense	probably benign	0.00
R7779:Adra1d	UTSW	2	131,403,805 (GRCm39)	missense	probably damaging	0.99
R7929:Adra1d	UTSW	2	131,403,600 (GRCm39)	nonsense	probably null
R8070:Adra1d	UTSW	2	131,403,502 (GRCm39)	missense	probably damaging	1.00
R8135:Adra1d	UTSW	2	131,403,692 (GRCm39)	missense	probably damaging	1.00
R8708:Adra1d	UTSW	2	131,403,400 (GRCm39)	missense	probably damaging	1.00
R8808:Adra1d	UTSW	2	131,403,397 (GRCm39)	missense	probably damaging	1.00
R9290:Adra1d	UTSW	2	131,403,898 (GRCm39)	missense	probably benign	0.09

Posted On

2016-08-02