Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01944:Drd3'

181201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Drd3

Ensembl Gene

ENSMUSG00000022705

Gene Name

dopamine receptor D3

Synonyms

D3 receptor, D3R

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

IGL01944

Quality Score

Status

Chromosome

Chromosomal Location

43754026-43822932 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43818308 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 259 (F259L)

Ref Sequence

ENSEMBL: ENSMUSP00000023390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023390] [ENSMUST00000229953]

Predicted Effect

probably benign
Transcript: ENSMUST00000023390
AA Change: F259L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023390
Gene: ENSMUSG00000022705
AA Change: F259L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	40	234	4.5e-9	PFAM
Pfam:7tm_1	46	429	5.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229953
AA Change: F291L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show exploratory hyperactivity and increased locomotion and rearing behavior, with heterozygous mice displaying similar, but less pronounced, behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	T	A	5: 135,011,376	V202D	probably damaging	Het
Afdn	A	G	17: 13,810,481	N218S	probably damaging	Het
AI314180	G	T	4: 58,861,544	T345K	probably benign	Het
Arhgef1	G	A	7: 24,925,783		probably null	Het
Atp1a2	G	T	1: 172,276,187	T959K	probably damaging	Het
Atp6v0a2	A	G	5: 124,636,105	E96G	probably benign	Het
B9d1	A	T	11: 61,512,379	M52L	probably benign	Het
Col6a6	T	A	9: 105,783,909	I334F	probably damaging	Het
Drosha	T	G	15: 12,889,719	L891R	probably damaging	Het
Fam71e2	T	C	7: 4,770,695	N67S	possibly damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Greb1l	T	C	18: 10,557,280	V1760A	possibly damaging	Het
Il1f8	T	A	2: 24,155,279	W48R	probably damaging	Het
Ipo9	C	A	1: 135,405,886	V353F	probably damaging	Het
Kmt2a	A	T	9: 44,849,767	F126I	probably damaging	Het
Mmrn1	T	C	6: 60,971,183		probably null	Het
Nup214	T	A	2: 32,034,959	C328*	probably null	Het
Olfr1013	A	G	2: 85,770,040	I80V	probably damaging	Het
Pcdh17	G	T	14: 84,447,520	V476L	probably benign	Het
Pcdh17	T	A	14: 84,447,521	V476E	probably damaging	Het
Prpf38b	A	T	3: 108,904,675	S291R	probably benign	Het
Rap1gap	T	C	4: 137,725,620	S601P	probably damaging	Het
Rnf213	T	C	11: 119,416,457	Y648H	probably benign	Het
Slfn3	A	G	11: 83,213,148	T282A	possibly damaging	Het
Ttll3	C	T	6: 113,414,115	T887I	probably benign	Het
Vmn1r197	A	G	13: 22,328,338	N143S	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Xpo4	T	C	14: 57,604,398	I487V	probably benign	Het

Other mutations in Drd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Drd3	APN	16	43762321	missense	probably benign	0.01
IGL01715:Drd3	APN	16	43821268	missense	probably damaging	0.98
IGL02212:Drd3	APN	16	43762312	missense	probably benign	0.21
IGL02666:Drd3	APN	16	43816956	splice site	probably benign
R0529:Drd3	UTSW	16	43822714	missense	probably damaging	1.00
R1102:Drd3	UTSW	16	43762483	missense	probably damaging	1.00
R1310:Drd3	UTSW	16	43821529	missense	probably damaging	0.96
R1548:Drd3	UTSW	16	43821341	missense	probably benign	0.01
R3124:Drd3	UTSW	16	43822792	missense	probably damaging	1.00
R3753:Drd3	UTSW	16	43817103	missense	probably damaging	1.00
R4363:Drd3	UTSW	16	43762359	missense	probably damaging	1.00
R4724:Drd3	UTSW	16	43822801	nonsense	probably null
R4725:Drd3	UTSW	16	43822801	nonsense	probably null
R4726:Drd3	UTSW	16	43822801	nonsense	probably null
R5016:Drd3	UTSW	16	43762246	missense	possibly damaging	0.88
R5850:Drd3	UTSW	16	43818332	missense	probably benign	0.00
R6052:Drd3	UTSW	16	43821283	missense	probably benign	0.01
R6377:Drd3	UTSW	16	43821307	nonsense	probably null
R6888:Drd3	UTSW	16	43817139	missense	probably benign	0.22
R6928:Drd3	UTSW	16	43821320	missense	probably benign	0.16
R7031:Drd3	UTSW	16	43762498	missense	probably damaging	0.98
R7089:Drd3	UTSW	16	43807378	missense	probably damaging	1.00
R7447:Drd3	UTSW	16	43817063	nonsense	probably null
R7567:Drd3	UTSW	16	43822684	missense	probably benign	0.00
R7575:Drd3	UTSW	16	43817133	missense	probably benign	0.11
R7772:Drd3	UTSW	16	43762395	missense	probably benign	0.05

Posted On

2014-05-07