Mutagenetix > Incidental Mutation

Incidental Mutation 'R5393:Drd5'

425951

Institutional Source

Beutler Lab

Gene Symbol

Drd5

Ensembl Gene

ENSMUSG00000039358

Gene Name

dopamine receptor D5

Synonyms

DRD1b, Drd-5, Drd1b, D5R, Gpcr1

MMRRC Submission

042965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38476742-38479868 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38478248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 414 (S414T)

Ref Sequence

ENSEMBL: ENSMUSP00000039691 (fasta)

Gene Model

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

AlphaFold

Q8BLD9

Predicted Effect

probably benign
Transcript: ENSMUST00000041646
AA Change: S414T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: S414T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (72/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	A	T	16: 88,860,653 (GRCm39)	Y60*	probably null	Het
Abca6	T	A	11: 110,135,121 (GRCm39)	E221D	probably benign	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adi1	A	G	12: 28,725,274 (GRCm39)	D8G	probably benign	Het
Adnp	T	C	2: 168,024,869 (GRCm39)	K809E	possibly damaging	Het
Aldh18a1	T	C	19: 40,574,011 (GRCm39)	H4R	probably benign	Het
Atp6v0a1	T	C	11: 100,929,633 (GRCm39)	S485P	possibly damaging	Het
C1galt1	T	C	6: 7,864,143 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,216,015 (GRCm39)	N94I	probably benign	Het
Catsperg1	T	C	7: 28,884,924 (GRCm39)	N899S	probably damaging	Het
Cilk1	A	G	9: 78,067,997 (GRCm39)	T463A	probably benign	Het
Coro2a	A	G	4: 46,542,255 (GRCm39)	S373P	probably damaging	Het
Cpsf6	G	C	10: 117,197,921 (GRCm39)		probably benign	Het
Csmd3	A	T	15: 47,497,099 (GRCm39)	N3099K	probably damaging	Het
Ctla2b	T	A	13: 61,043,946 (GRCm39)	E74D	probably damaging	Het
Dnah2	T	A	11: 69,391,683 (GRCm39)	T671S	probably benign	Het
Dyrk2	C	T	10: 118,695,753 (GRCm39)	D502N	probably damaging	Het
Ecel1	A	T	1: 87,080,598 (GRCm39)	L376Q	possibly damaging	Het
Efcab8	G	A	2: 153,622,903 (GRCm39)	R24Q	unknown	Het
Eloc	A	C	1: 16,718,192 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,515,819 (GRCm39)		probably benign	Het
Fam89b	T	C	19: 5,778,733 (GRCm39)	D152G	probably damaging	Het
Gm15455	G	A	1: 33,875,927 (GRCm39)		noncoding transcript	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Hdac10	T	C	15: 89,010,887 (GRCm39)	Y238C	probably damaging	Het
Ighv2-5	T	C	12: 113,649,502 (GRCm39)	T12A	possibly damaging	Het
Insrr	T	C	3: 87,718,007 (GRCm39)		probably null	Het
Irf9	T	C	14: 55,843,914 (GRCm39)		probably benign	Het
Itpr2	A	T	6: 146,277,653 (GRCm39)	C280*	probably null	Het
Kcnk18	T	C	19: 59,208,271 (GRCm39)	C36R	probably damaging	Het
Khdc4	T	A	3: 88,603,913 (GRCm39)	H243Q	probably benign	Het
Klhl14	G	T	18: 21,785,051 (GRCm39)	N125K	probably benign	Het
Lce1i	T	C	3: 92,685,042 (GRCm39)	S45G	unknown	Het
Lrmda	A	C	14: 22,077,374 (GRCm39)	D37A	probably damaging	Het
Marco	A	C	1: 120,413,583 (GRCm39)	D280E	probably damaging	Het
Meak7	T	C	8: 120,499,157 (GRCm39)	I112V	probably benign	Het
Miox	C	T	15: 89,220,450 (GRCm39)	Q180*	probably null	Het
Npdc1	A	T	2: 25,298,682 (GRCm39)	M265L	probably damaging	Het
Nudcd3	T	C	11: 6,063,274 (GRCm39)	K205R	probably damaging	Het
Or2ak6	T	A	11: 58,593,326 (GRCm39)	H266Q	probably damaging	Het
Or2t46	C	G	11: 58,471,825 (GRCm39)	L52V	possibly damaging	Het
Pcdhga5	C	T	18: 37,829,720 (GRCm39)	R723C	probably benign	Het
Pdlim5	T	A	3: 141,964,947 (GRCm39)	E295D	probably damaging	Het
Poli	C	A	18: 70,650,499 (GRCm39)	E314*	probably null	Het
Ptpro	A	G	6: 137,357,222 (GRCm39)	N238D	probably benign	Het
R3hdm1	A	G	1: 128,159,084 (GRCm39)	I920V	probably benign	Het
Ralgapa2	C	T	2: 146,187,375 (GRCm39)	V1338M	probably damaging	Het
Saa3	T	C	7: 46,362,085 (GRCm39)	Y53C	probably damaging	Het
Septin14	T	A	5: 129,760,650 (GRCm39)	E398D	probably benign	Het
Six3	T	C	17: 85,931,270 (GRCm39)	S309P	possibly damaging	Het
Slc7a14	A	G	3: 31,311,919 (GRCm39)	S34P	probably damaging	Het
Smarca2	C	A	19: 26,617,829 (GRCm39)	Q287K	probably benign	Het
Stard9	C	T	2: 120,533,387 (GRCm39)	L522F	possibly damaging	Het
Sycp1	T	C	3: 102,748,363 (GRCm39)		probably null	Het
Tbc1d8	A	T	1: 39,465,169 (GRCm39)	V73E	probably damaging	Het
Tmem120a	T	C	5: 135,765,104 (GRCm39)		probably null	Het
Tsc2	T	C	17: 24,819,370 (GRCm39)	E1251G	possibly damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnt5b	A	C	6: 119,417,394 (GRCm39)	L157R	probably damaging	Het
Zbtb24	T	A	10: 41,340,578 (GRCm39)	V536E	probably damaging	Het
Zfp593	G	A	4: 133,972,615 (GRCm39)	A67V	probably benign	Het
Zfp995	A	T	17: 22,099,473 (GRCm39)	F254I	probably benign	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
R5639:Drd5	UTSW	5	38,477,178 (GRCm39)	missense	possibly damaging	0.81
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'- GCCTTTAATGCAGACTTCCG -3'
(R):5'- AACTGTACATGCCCATGAGG -3'

Sequencing Primer
(F):5'- GGAAGGTGTTCGCCCAG -3'
(R):5'- CCATGAGGGTGTTTCTAAGCAG -3'

Posted On

2016-08-04