Mutagenetix > Incidental Mutation

Incidental Mutation 'R8070:Adra1d'

620209

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

067505-MU

Accession Numbers

Essential gene?

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

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131387770-131404203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 131403502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 196 (L196R)

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: L196R

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

SMART Domains

Protein: ENSMUSP00000099473
Gene: ENSMUSG00000027335
AA Change: L196R

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

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-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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 64,055,510 (GRCm39)	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,452,681 (GRCm39)	F86S	probably damaging	Het
Aamdc	A	T	7: 97,224,855 (GRCm39)	Y2*	probably null	Het
Acta1	T	A	8: 124,620,360 (GRCm39)	D26V	possibly damaging	Het
Agbl2	G	A	2: 90,621,909 (GRCm39)	C132Y	probably benign	Het
Amd1	A	G	10: 40,170,226 (GRCm39)	V92A	probably benign	Het
Arid4b	T	A	13: 14,310,844 (GRCm39)	I149K	probably benign	Het
Atg7	A	G	6: 114,674,041 (GRCm39)	M312V	probably benign	Het
Bap1	T	A	14: 30,978,643 (GRCm39)	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 123,369,720 (GRCm39)	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,870,030 (GRCm39)	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,867,606 (GRCm39)	V479L	probably benign	Het
Chd2	A	G	7: 73,101,506 (GRCm39)	S1407P	probably benign	Het
Clstn2	A	G	9: 97,681,523 (GRCm39)	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,578,806 (GRCm39)	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,386,180 (GRCm39)	D351E	probably benign	Het
Dennd6b	T	C	15: 89,069,576 (GRCm39)	I517V	probably benign	Het
Dnah17	T	C	11: 117,915,497 (GRCm39)	E4374G	probably damaging	Het
Emsy	A	G	7: 98,275,922 (GRCm39)	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,208,841 (GRCm39)	E65D	probably benign	Het
Fam83f	T	A	15: 80,556,281 (GRCm39)	L55Q	probably damaging	Het
Fry	T	C	5: 150,401,472 (GRCm39)	F379L		Het
Fscb	A	T	12: 64,521,382 (GRCm39)	M28K	probably benign	Het
Gas7	G	A	11: 67,574,260 (GRCm39)	V412M	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gcn1	T	A	5: 115,727,057 (GRCm39)	V638E	probably benign	Het
Ggt1	A	T	10: 75,414,733 (GRCm39)	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,368,629 (GRCm39)	N1103S	probably benign	Het
Gm5592	G	A	7: 40,935,887 (GRCm39)	A130T	possibly damaging	Het
Gys2	T	C	6: 142,394,230 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,743 (GRCm39)	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,843,656 (GRCm39)	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,051,089 (GRCm39)	T89M	probably damaging	Het
Ipo7	A	G	7: 109,652,014 (GRCm39)	D931G	probably benign	Het
Jakmip1	A	G	5: 37,330,631 (GRCm39)	E437G	probably benign	Het
Lingo3	C	T	10: 80,671,955 (GRCm39)		probably benign	Het
Lnpep	A	G	17: 17,758,900 (GRCm39)	S815P	probably damaging	Het
Ly6a	T	C	15: 74,869,449 (GRCm39)	D2G	probably damaging	Het
Madd	C	A	2: 90,988,359 (GRCm39)	E1223*	probably null	Het
Mapk8ip3	A	T	17: 25,120,078 (GRCm39)		probably null	Het
Mecom	T	C	3: 30,033,987 (GRCm39)	E239G	probably damaging	Het
Mug1	T	C	6: 121,852,838 (GRCm39)	V889A	probably benign	Het
Myo18b	T	A	5: 112,938,986 (GRCm39)	N1675I	probably benign	Het
Ndrg4	T	C	8: 96,426,756 (GRCm39)	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,508,293 (GRCm39)	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Olfm3	A	G	3: 114,895,604 (GRCm39)	D195G	probably damaging	Het
Or2y14	A	T	11: 49,404,941 (GRCm39)	T159S	probably damaging	Het
Or4p21	G	T	2: 88,277,003 (GRCm39)	T93K	probably benign	Het
Pds5a	A	G	5: 65,809,741 (GRCm39)	L407P	possibly damaging	Het
Pgm2	A	G	5: 64,269,425 (GRCm39)	N504S	probably benign	Het
Plce1	A	G	19: 38,690,283 (GRCm39)	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,414,209 (GRCm39)	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,803,807 (GRCm39)	S451G	probably benign	Het
Prox1	T	G	1: 189,893,107 (GRCm39)	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,195,199 (GRCm39)	R1195S	probably damaging	Het
Rere	A	G	4: 150,701,832 (GRCm39)	D37G	probably damaging	Het
Tfip11	T	A	5: 112,482,796 (GRCm39)	M560K	possibly damaging	Het
Thop1	T	C	10: 80,915,320 (GRCm39)	V260A	probably damaging	Het
Tle6	A	G	10: 81,434,476 (GRCm39)	M41T	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,249 (GRCm39)	S68P	possibly damaging	Het
Trim24	A	G	6: 37,934,661 (GRCm39)	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,255,433 (GRCm39)	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,571,695 (GRCm39)	I502V	probably benign	Het
Vmn2r79	A	T	7: 86,651,336 (GRCm39)	Y245F	probably benign	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
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
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'- ATACACGCGGCAGTACATGAC -3'
(R):5'- CTACTGAGTGCAGCTGTGTTGC -3'

Sequencing Primer
(F):5'- TGACCACGATCACTGCCATGG -3'
(R):5'- CCCTTCTCAGCCACTATGGAGG -3'

Posted On

2020-01-23