Mutagenetix > Incidental Mutation

Incidental Mutation 'R5639:Drd5'

440533

Institutional Source

Beutler Lab

Gene Symbol

Drd5

Ensembl Gene

ENSMUSG00000039358

Gene Name

dopamine receptor D5

Synonyms

DRD1b, Drd-5, Drd1b, D5R, Gpcr1

MMRRC Submission

043288-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R5639 (G1)

Quality Score

189

Status

Not validated

Chromosome

Chromosomal Location

38476742-38479868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38477178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 57 (V57D)

Ref Sequence

ENSEMBL: ENSMUSP00000039691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041646]

AlphaFold

Q8BLD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041646
AA Change: V57D

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: V57D

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC
Pfam:7TM_GPCR_Srx	47	177	5.5e-7	PFAM
Pfam:7TM_GPCR_Srsx	49	179	1e-7	PFAM
Pfam:7tm_1	55	354	1.5e-74	PFAM
Pfam:7TM_GPCR_Srsx	210	368	2.4e-6	PFAM
low complexity region	419	430	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181240

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop hypertension and exhibit elevated blood pressure caused by increased sympathetic tone. Mice homozygous for another knock-out allele exhibit increased methamphetamine-induced ambulatory activity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	C	8: 111,769,866 (GRCm39)	Y322H	probably benign	Het
Aldh1a1	C	A	19: 20,600,786 (GRCm39)	T201K	probably damaging	Het
Ankrd26	T	C	6: 118,516,685 (GRCm39)	E493G	possibly damaging	Het
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Bicc1	A	T	10: 70,776,350 (GRCm39)	V701E	probably damaging	Het
Car11	T	A	7: 45,352,045 (GRCm39)		probably null	Het
Ccn1	A	C	3: 145,354,452 (GRCm39)	V153G	probably damaging	Het
Celsr1	C	G	15: 85,914,968 (GRCm39)	V1002L	probably damaging	Het
Clpx	T	A	9: 65,237,112 (GRCm39)	S597T	probably benign	Het
Cplx3	A	T	9: 57,519,149 (GRCm39)	F266I	probably benign	Het
Dmpk	A	G	7: 18,826,525 (GRCm39)	M545V	probably benign	Het
Dnah7c	C	G	1: 46,778,828 (GRCm39)	D3139E	probably benign	Het
Epc2	A	G	2: 49,341,903 (GRCm39)	N29S	possibly damaging	Het
Ercc3	T	C	18: 32,398,767 (GRCm39)	V682A	probably damaging	Het
Fam186a	T	C	15: 99,844,931 (GRCm39)	K438E	unknown	Het
Farp1	T	A	14: 121,512,794 (GRCm39)	I764N	probably damaging	Het
Flvcr2	A	T	12: 85,794,250 (GRCm39)	I209F	probably benign	Het
Fndc3b	C	T	3: 27,480,302 (GRCm39)	V1065M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gp6	C	A	7: 4,397,130 (GRCm39)	D102Y	probably damaging	Het
Gpc5	T	C	14: 115,330,179 (GRCm39)	L114P	probably benign	Het
Kcnq3	T	A	15: 65,869,599 (GRCm39)	E613V	probably damaging	Het
Krt74	T	G	15: 101,665,195 (GRCm39)		noncoding transcript	Het
Lipe	T	C	7: 25,082,750 (GRCm39)	T801A	probably benign	Het
Lrp1	A	G	10: 127,429,708 (GRCm39)	V454A	probably damaging	Het
Lsm14a	T	C	7: 34,052,935 (GRCm39)	D338G	probably damaging	Het
Mctp1	T	C	13: 77,172,902 (GRCm39)		silent	Het
Nlrp4a	G	A	7: 26,156,455 (GRCm39)	A727T	probably benign	Het
Nrgn	T	C	9: 37,457,344 (GRCm39)	S48G	probably benign	Het
Oga	A	G	19: 45,765,438 (GRCm39)	I123T	probably damaging	Het
Or10k2	T	C	8: 84,267,973 (GRCm39)	S67P	probably damaging	Het
Or4a73	T	C	2: 89,421,069 (GRCm39)	Y130C	probably damaging	Het
Or51f23	A	G	7: 102,453,200 (GRCm39)	S172G	probably benign	Het
Pdia6	A	G	12: 17,328,594 (GRCm39)	E183G	probably benign	Het
Pign	T	A	1: 105,517,040 (GRCm39)	I529F	probably benign	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Samm50	T	G	15: 84,098,329 (GRCm39)	I456S	probably benign	Het
Sesn1	A	G	10: 41,687,267 (GRCm39)	R84G	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Spag17	G	T	3: 99,963,482 (GRCm39)	D1067Y	probably damaging	Het
Sptan1	C	T	2: 29,881,005 (GRCm39)	Q425*	probably null	Het
Srrm4	T	A	5: 116,729,418 (GRCm39)	I36F	unknown	Het
Tas1r2	A	T	4: 139,387,107 (GRCm39)	S189C	probably damaging	Het
Tep1	A	G	14: 51,091,062 (GRCm39)	V690A	possibly damaging	Het
Trmo	T	C	4: 46,382,073 (GRCm39)	K348R	probably benign	Het
Trmu	T	A	15: 85,766,899 (GRCm39)	M36K	probably damaging	Het
Ubr4	A	G	4: 139,179,959 (GRCm39)	T3380A	possibly damaging	Het
Unc79	A	C	12: 103,137,831 (GRCm39)	T2425P	probably damaging	Het
Vmn2r12	G	A	5: 109,240,666 (GRCm39)	T149I	probably benign	Het
Vwa3a	A	C	7: 120,389,366 (GRCm39)	K68T	probably damaging	Het
Yif1a	T	C	19: 5,138,778 (GRCm39)		probably null	Het
Zbtb44	A	T	9: 30,965,348 (GRCm39)	T253S	probably damaging	Het
Zdhhc3	T	C	9: 122,929,410 (GRCm39)	Y75C	probably damaging	Het
Zfp189	T	A	4: 49,530,153 (GRCm39)	F419I	probably benign	Het
Zfp663	T	C	2: 165,194,929 (GRCm39)	D430G	probably benign	Het
Zfp709	T	G	8: 72,643,835 (GRCm39)		probably null	Het

Other mutations in Drd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03153:Drd5	APN	5	38,477,124 (GRCm39)	missense	probably benign	0.25
PIT4305001:Drd5	UTSW	5	38,477,927 (GRCm39)	missense	probably damaging	1.00
R0051:Drd5	UTSW	5	38,477,957 (GRCm39)	missense	probably benign	0.39
R0051:Drd5	UTSW	5	38,477,957 (GRCm39)	missense	probably benign	0.39
R0571:Drd5	UTSW	5	38,477,270 (GRCm39)	missense	probably damaging	1.00
R1507:Drd5	UTSW	5	38,478,065 (GRCm39)	missense	probably damaging	1.00
R1663:Drd5	UTSW	5	38,478,198 (GRCm39)	missense	probably benign	0.02
R1777:Drd5	UTSW	5	38,477,504 (GRCm39)	missense	probably damaging	1.00
R1932:Drd5	UTSW	5	38,477,319 (GRCm39)	missense	probably benign	0.14
R1986:Drd5	UTSW	5	38,477,456 (GRCm39)	missense	probably damaging	0.99
R2047:Drd5	UTSW	5	38,477,679 (GRCm39)	missense	probably damaging	1.00
R3875:Drd5	UTSW	5	38,477,157 (GRCm39)	missense	possibly damaging	0.84
R5033:Drd5	UTSW	5	38,477,544 (GRCm39)	missense	probably damaging	1.00
R5201:Drd5	UTSW	5	38,477,366 (GRCm39)	missense	probably damaging	0.96
R5255:Drd5	UTSW	5	38,477,310 (GRCm39)	missense	probably damaging	1.00
R5393:Drd5	UTSW	5	38,478,248 (GRCm39)	missense	probably benign
R7241:Drd5	UTSW	5	38,477,879 (GRCm39)	missense	probably damaging	1.00
R7520:Drd5	UTSW	5	38,478,195 (GRCm39)	missense	probably benign	0.00
R7739:Drd5	UTSW	5	38,477,421 (GRCm39)	missense	probably damaging	1.00
R8300:Drd5	UTSW	5	38,477,672 (GRCm39)	missense	probably damaging	0.99
R8746:Drd5	UTSW	5	38,477,433 (GRCm39)	missense	probably benign	0.04
R8829:Drd5	UTSW	5	38,477,078 (GRCm39)	missense	probably benign	0.08
R8832:Drd5	UTSW	5	38,477,078 (GRCm39)	missense	probably benign	0.08
R8870:Drd5	UTSW	5	38,477,747 (GRCm39)	missense	possibly damaging	0.76
R9600:Drd5	UTSW	5	38,478,174 (GRCm39)	missense	possibly damaging	0.79
R9705:Drd5	UTSW	5	38,478,027 (GRCm39)	missense	probably damaging	1.00
R9717:Drd5	UTSW	5	38,478,090 (GRCm39)	missense	probably damaging	1.00
Z1177:Drd5	UTSW	5	38,477,729 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- TTAAAGGATCCCAAGCAGTGCAG -3'
(R):5'- TGTCGCAGAATGCCCCAAAG -3'

Sequencing Primer
(F):5'- AAGTTGGGATCGCACGC -3'
(R):5'- CAATGCCACGAAGAGGT -3'

Posted On

2016-11-08