Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Drd3'

302760

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

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

43574389-43643295 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 43637319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155033 (fasta)

Gene Model

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

AlphaFold

P30728

Predicted Effect

probably benign
Transcript: ENSMUST00000023390

SMART Domains

Protein: ENSMUSP00000023390
Gene: ENSMUSG00000022705

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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,944 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,934,431 (GRCm39)	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148 (GRCm39)	I382T	probably benign	Het
Cux1	C	A	5: 136,304,169 (GRCm39)	E1336*	probably null	Het
Cyb5r3	T	C	15: 83,044,554 (GRCm39)	I155V	probably damaging	Het
Ddx24	T	C	12: 103,390,314 (GRCm39)	T226A	possibly damaging	Het
Dld	T	C	12: 31,382,408 (GRCm39)	N465S	probably null	Het
Dnmbp	A	G	19: 43,842,566 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,818,111 (GRCm39)	H1580R	probably benign	Het
Gabrb2	G	T	11: 42,420,322 (GRCm39)		probably null	Het
Gbp9	T	C	5: 105,242,141 (GRCm39)		probably null	Het
Inhba	A	T	13: 16,201,664 (GRCm39)	I409F	possibly damaging	Het
Iqgap2	T	C	13: 95,764,564 (GRCm39)	N1560S	probably damaging	Het
Itsn1	A	G	16: 91,617,606 (GRCm39)		probably benign	Het
Kat6b	T	C	14: 21,678,938 (GRCm39)	F434L	probably damaging	Het
Klra1	A	G	6: 130,341,278 (GRCm39)	C232R	probably damaging	Het
Krt18	T	A	15: 101,938,302 (GRCm39)	I175N	probably damaging	Het
Lck	A	G	4: 129,450,212 (GRCm39)	V178A	probably damaging	Het
Mroh4	C	A	15: 74,481,624 (GRCm39)	G737V	probably benign	Het
Mug2	A	C	6: 122,058,285 (GRCm39)	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,832,187 (GRCm39)	N2572S	probably benign	Het
Nup88	G	T	11: 70,834,695 (GRCm39)		probably benign	Het
Nxph3	G	T	11: 95,401,834 (GRCm39)	H193Q	possibly damaging	Het
Or5b97	G	T	19: 12,878,221 (GRCm39)	H308N	probably benign	Het
Orm2	A	G	4: 63,283,970 (GRCm39)	T198A	possibly damaging	Het
Pom121	T	C	5: 135,415,686 (GRCm39)	I397V	unknown	Het
Prex1	C	A	2: 166,414,909 (GRCm39)	E1313D	probably benign	Het
Prkg2	T	A	5: 99,145,378 (GRCm39)		probably benign	Het
Prl2a1	A	T	13: 27,990,310 (GRCm39)	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,355,057 (GRCm39)	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,209 (GRCm39)	I1100F	probably benign	Het
Ryr1	C	A	7: 28,719,188 (GRCm39)	M4406I	unknown	Het
Sdf4	T	A	4: 156,093,281 (GRCm39)	Y204*	probably null	Het
Serinc1	A	T	10: 57,400,089 (GRCm39)		probably null	Het
Slc39a5	C	T	10: 128,234,324 (GRCm39)	R193H	probably damaging	Het
Smad9	A	G	3: 54,689,888 (GRCm39)	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,123 (GRCm39)	L25I	possibly damaging	Het
Stab2	A	T	10: 86,686,766 (GRCm39)	S809R	possibly damaging	Het
Szt2	G	A	4: 118,231,252 (GRCm39)	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,606,058 (GRCm39)		probably benign	Het
Tfap2d	A	C	1: 19,174,979 (GRCm39)	D144A	probably benign	Het
Tmprss11d	A	T	5: 86,479,052 (GRCm39)	V117D	probably damaging	Het
Tnxb	A	G	17: 34,903,913 (GRCm39)	D1141G	probably benign	Het
Traf6	A	T	2: 101,527,512 (GRCm39)	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,448,607 (GRCm39)		probably benign	Het
Utp25	G	A	1: 192,789,904 (GRCm39)	Q752*	probably null	Het
Vmn1r73	C	A	7: 11,490,865 (GRCm39)	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,296,433 (GRCm39)	I784T	probably benign	Het
Zfp420	A	G	7: 29,573,795 (GRCm39)	D5G	probably benign	Het

Other mutations in Drd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Drd3	APN	16	43,582,684 (GRCm39)	missense	probably benign	0.01
IGL01715:Drd3	APN	16	43,641,631 (GRCm39)	missense	probably damaging	0.98
IGL01944:Drd3	APN	16	43,638,671 (GRCm39)	missense	probably benign	0.16
IGL02212:Drd3	APN	16	43,582,675 (GRCm39)	missense	probably benign	0.21
R0529:Drd3	UTSW	16	43,643,077 (GRCm39)	missense	probably damaging	1.00
R1102:Drd3	UTSW	16	43,582,846 (GRCm39)	missense	probably damaging	1.00
R1310:Drd3	UTSW	16	43,641,892 (GRCm39)	missense	probably damaging	0.96
R1548:Drd3	UTSW	16	43,641,704 (GRCm39)	missense	probably benign	0.01
R3124:Drd3	UTSW	16	43,643,155 (GRCm39)	missense	probably damaging	1.00
R3753:Drd3	UTSW	16	43,637,466 (GRCm39)	missense	probably damaging	1.00
R4363:Drd3	UTSW	16	43,582,722 (GRCm39)	missense	probably damaging	1.00
R4724:Drd3	UTSW	16	43,643,164 (GRCm39)	nonsense	probably null
R4725:Drd3	UTSW	16	43,643,164 (GRCm39)	nonsense	probably null
R4726:Drd3	UTSW	16	43,643,164 (GRCm39)	nonsense	probably null
R5016:Drd3	UTSW	16	43,582,609 (GRCm39)	missense	possibly damaging	0.88
R5850:Drd3	UTSW	16	43,638,695 (GRCm39)	missense	probably benign	0.00
R6052:Drd3	UTSW	16	43,641,646 (GRCm39)	missense	probably benign	0.01
R6377:Drd3	UTSW	16	43,641,670 (GRCm39)	nonsense	probably null
R6888:Drd3	UTSW	16	43,637,502 (GRCm39)	missense	probably benign	0.22
R6928:Drd3	UTSW	16	43,641,683 (GRCm39)	missense	probably benign	0.16
R7031:Drd3	UTSW	16	43,582,861 (GRCm39)	missense	probably damaging	0.98
R7089:Drd3	UTSW	16	43,627,741 (GRCm39)	missense	probably damaging	1.00
R7447:Drd3	UTSW	16	43,637,426 (GRCm39)	nonsense	probably null
R7567:Drd3	UTSW	16	43,643,047 (GRCm39)	missense	probably benign	0.00
R7575:Drd3	UTSW	16	43,637,496 (GRCm39)	missense	probably benign	0.11
R7772:Drd3	UTSW	16	43,582,758 (GRCm39)	missense	probably benign	0.05
R8694:Drd3	UTSW	16	43,643,075 (GRCm39)	missense	probably damaging	1.00
R8962:Drd3	UTSW	16	43,641,842 (GRCm39)	missense	probably damaging	1.00
R9536:Drd3	UTSW	16	43,637,368 (GRCm39)	missense	probably damaging	0.98
R9632:Drd3	UTSW	16	43,643,135 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16