Mutagenetix > Incidental Mutation

Incidental Mutation 'R3913:Adra1d'

359678

Institutional Source

Beutler Lab

Gene Symbol

Adra1d

Ensembl Gene

ENSMUSG00000027335

Gene Name

adrenergic receptor, alpha 1d

Synonyms

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

MMRRC Submission

040911-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3913 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

131387770-131404203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131404075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 5 (D5V)

Ref Sequence

ENSEMBL: ENSMUSP00000099473 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000103184
AA Change: D5V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: D5V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146049

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (59/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	T	A	3: 137,927,541 (GRCm39)	V29E	probably damaging	Het
Arid1b	A	G	17: 5,392,532 (GRCm39)	I2021V	possibly damaging	Het
Birc6	A	T	17: 74,880,608 (GRCm39)	R462*	probably null	Het
Cchcr1	T	C	17: 35,836,233 (GRCm39)	V341A	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,874,759 (GRCm39)	D783G	possibly damaging	Het
Dcaf15	T	C	8: 84,825,794 (GRCm39)	Y271C	probably damaging	Het
Dcun1d2	A	C	8: 13,331,082 (GRCm39)	M16R	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnttip2	T	C	3: 122,069,040 (GRCm39)	V85A	possibly damaging	Het
Eprs1	G	A	1: 185,111,939 (GRCm39)		probably null	Het
Exoc7	T	C	11: 116,197,731 (GRCm39)	D27G	probably benign	Het
Gdpd5	A	G	7: 99,087,546 (GRCm39)	D70G	probably null	Het
Glyr1	A	G	16: 4,849,777 (GRCm39)	F199L	probably damaging	Het
Golga4	T	A	9: 118,368,039 (GRCm39)	M414K	probably damaging	Het
Gpr132	C	A	12: 112,816,640 (GRCm39)	W62L	probably benign	Het
Gpr179	A	T	11: 97,225,591 (GRCm39)	V2188E	probably benign	Het
Ilf3	C	T	9: 21,309,422 (GRCm39)	A526V	possibly damaging	Het
Ints10	T	A	8: 69,266,272 (GRCm39)	S478T	probably damaging	Het
Kcnab2	A	G	4: 152,479,689 (GRCm39)	V187A	probably damaging	Het
Kcnj15	C	T	16: 95,097,329 (GRCm39)	T317I	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl30	T	C	1: 91,287,166 (GRCm39)	V484A	possibly damaging	Het
Krt90	G	A	15: 101,471,218 (GRCm39)	R15W	probably damaging	Het
Liph	G	T	16: 21,781,009 (GRCm39)		probably benign	Het
Lrrc7	G	A	3: 157,997,589 (GRCm39)	L158F	probably damaging	Het
Maml1	T	C	11: 50,154,259 (GRCm39)	T602A	probably benign	Het
Mast4	A	G	13: 102,895,177 (GRCm39)	L782P	probably damaging	Het
Mei4	A	G	9: 81,772,316 (GRCm39)	K43R	probably benign	Het
Mettl4	A	G	17: 95,047,960 (GRCm39)	V227A	probably benign	Het
Mst1r	G	A	9: 107,791,945 (GRCm39)	R827Q	probably benign	Het
Olfm1	A	G	2: 28,098,186 (GRCm39)	T83A	possibly damaging	Het
Or1e30	G	T	11: 73,678,522 (GRCm39)	G253W	probably damaging	Het
Or5m10b	T	C	2: 85,699,115 (GRCm39)	Y60H	probably damaging	Het
Parp4	A	G	14: 56,857,975 (GRCm39)	E869G	probably damaging	Het
Pate4	C	A	9: 35,523,140 (GRCm39)	M1I	probably null	Het
Patj	A	G	4: 98,457,338 (GRCm39)	D1280G	probably damaging	Het
Ppargc1b	T	C	18: 61,444,447 (GRCm39)	S255G	probably damaging	Het
Rev3l	A	G	10: 39,696,552 (GRCm39)	I521M	probably damaging	Het
Rlim	T	C	X: 103,006,267 (GRCm39)	T545A	probably benign	Het
Robo2	A	T	16: 73,831,893 (GRCm39)	D262E	probably damaging	Het
Sec14l5	A	G	16: 4,965,720 (GRCm39)		probably benign	Het
Sema4b	A	G	7: 79,870,222 (GRCm39)	S467G	probably benign	Het
Setd2	C	T	9: 110,380,114 (GRCm39)	R1310C	probably damaging	Het
Sh3d19	T	C	3: 85,992,083 (GRCm39)	I37T	probably damaging	Het
Slc23a3	T	A	1: 75,105,566 (GRCm39)	I422F	probably benign	Het
Snap91	T	C	9: 86,674,610 (GRCm39)	T534A	possibly damaging	Het
Son	A	T	16: 91,456,999 (GRCm39)		probably benign	Het
Tnks	A	T	8: 35,340,228 (GRCm39)	S463R	probably damaging	Het
Tubb3	A	G	8: 124,147,748 (GRCm39)	H227R	possibly damaging	Het
Tyw1	T	A	5: 130,287,876 (GRCm39)	V36D	probably damaging	Het
Vwa5a	T	C	9: 38,646,039 (GRCm39)	I469T	probably damaging	Het
Zdhhc8	A	G	16: 18,044,587 (GRCm39)	L311P	possibly damaging	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
IGL03155:Adra1d	APN	2	131,388,001 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTTGGTGACCGTCTGCAAG -3'
(R):5'- TCTTGTGACTCTGCAGCCAC -3'

Sequencing Primer
(F):5'- TGACGAGAAGGTTGCCCG -3'
(R):5'- TCCCGTTGGGACCTTCACG -3'

Posted On

2015-11-17