Mutagenetix > Incidental Mutation

Incidental Mutation 'R4725:Drd3'

358430

Institutional Source

Beutler Lab

Gene Symbol

Drd3

Ensembl Gene

ENSMUSG00000022705

Gene Name

dopamine receptor D3

Synonyms

D3 receptor, D3R

MMRRC Submission

041960-MU

Accession Numbers

Essential gene?

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

Stock #

R4725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43574389-43643295 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 43643164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 467 (E467*)

Ref Sequence

ENSEMBL: ENSMUSP00000155033 (fasta)

Gene Model

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

AlphaFold

P30728

Predicted Effect

probably null
Transcript: ENSMUST00000023390
AA Change: E435*

SMART Domains

Protein: ENSMUSP00000023390
Gene: ENSMUSG00000022705
AA Change: E435*

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 null
Transcript: ENSMUST00000229953
AA Change: E467*

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (64/67)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830454E08Rik	T	C	9: 120,406,769 (GRCm39)		probably benign	Het
Adamts20	T	C	15: 94,249,643 (GRCm39)	E458G	probably damaging	Het
Adgrl3	T	C	5: 81,914,052 (GRCm39)	I1220T	possibly damaging	Het
Aldh1a1	T	A	19: 20,617,445 (GRCm39)	M459K	probably benign	Het
Bmal1	C	A	7: 112,903,566 (GRCm39)	P454Q	possibly damaging	Het
Camta1	A	G	4: 151,232,953 (GRCm39)	V240A	probably benign	Het
Ccdc88b	C	T	19: 6,834,481 (GRCm39)	G149R	probably damaging	Het
Ceacam5	T	C	7: 17,494,602 (GRCm39)	V870A	probably benign	Het
Cep192	A	C	18: 67,949,837 (GRCm39)	Q307P	probably benign	Het
Cep63	T	C	9: 102,467,755 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Ctdsp1	G	A	1: 74,433,823 (GRCm39)	V135I	possibly damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dchs1	T	C	7: 105,404,460 (GRCm39)	D2694G	probably damaging	Het
Dchs1	C	G	7: 105,414,759 (GRCm39)	G761A	probably damaging	Het
Dennd5b	A	G	6: 148,946,277 (GRCm39)	Y445H	probably damaging	Het
Dock1	T	A	7: 134,346,743 (GRCm39)	L225*	probably null	Het
Dysf	A	T	6: 84,074,738 (GRCm39)	N527I	probably damaging	Het
Erbb2	A	G	11: 98,315,970 (GRCm39)	T358A	possibly damaging	Het
Fhad1	A	T	4: 141,655,689 (GRCm39)		probably null	Het
Ganc	T	C	2: 120,265,754 (GRCm39)	I434T	probably damaging	Het
Gm5830	T	A	1: 78,945,549 (GRCm39)		noncoding transcript	Het
Gm6096	G	T	7: 33,950,484 (GRCm39)	E8*	probably null	Het
Gne	A	G	4: 44,066,806 (GRCm39)	F63S	probably benign	Het
Gpat2	T	C	2: 127,273,902 (GRCm39)	V315A	possibly damaging	Het
Gpr33	A	G	12: 52,070,892 (GRCm39)	L49P	probably damaging	Het
Heatr1	C	T	13: 12,439,543 (GRCm39)	Q1374*	probably null	Het
Hivep1	A	G	13: 42,316,887 (GRCm39)	I2032V	probably benign	Het
Igkv2-112	A	C	6: 68,197,450 (GRCm39)	I40L	probably benign	Het
Kcnab3	A	G	11: 69,221,294 (GRCm39)	N204D	probably benign	Het
Kcnj10	T	A	1: 172,196,726 (GRCm39)	F80Y	probably damaging	Het
Lcmt2	C	G	2: 120,969,911 (GRCm39)	V171L	probably benign	Het
Loxhd1	T	A	18: 77,483,153 (GRCm39)	Y1245N	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Mast1	A	G	8: 85,655,635 (GRCm39)	S170P	possibly damaging	Het
Mroh4	A	G	15: 74,487,956 (GRCm39)	L322P	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nudcd3	A	T	11: 6,143,475 (GRCm39)	V1D	probably damaging	Het
Pah	T	A	10: 87,390,238 (GRCm39)	L25Q	probably damaging	Het
Pik3cg	A	T	12: 32,243,596 (GRCm39)		probably null	Het
Pira13	A	C	7: 3,824,547 (GRCm39)	S611A	probably benign	Het
Plekha6	C	A	1: 133,211,058 (GRCm39)	S625Y	probably damaging	Het
Rtn4	T	A	11: 29,658,362 (GRCm39)	S839T	probably damaging	Het
Rusc1	A	G	3: 88,998,736 (GRCm39)	S349P	possibly damaging	Het
Samsn1	A	T	16: 75,742,217 (GRCm39)		noncoding transcript	Het
Scimp	A	G	11: 70,691,539 (GRCm39)	V30A	probably damaging	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sgip1	A	G	4: 102,823,419 (GRCm39)	D680G	probably damaging	Het
Slc44a2	G	A	9: 21,259,691 (GRCm39)	V613M	probably damaging	Het
Smpdl3b	T	C	4: 132,472,489 (GRCm39)	T95A	probably damaging	Het
Spag6l	A	T	16: 16,610,395 (GRCm39)	L85H	probably damaging	Het
Sucla2	T	A	14: 73,806,429 (GRCm39)	Y167N	possibly damaging	Het
Svop	G	T	5: 114,203,546 (GRCm39)		probably benign	Het
Tnxb	A	T	17: 34,918,041 (GRCm39)	D2318V	probably damaging	Het
Trbv14	A	G	6: 41,112,332 (GRCm39)	D43G	probably benign	Het
Ubn2	A	G	6: 38,499,240 (GRCm39)		probably benign	Het
Ufsp1	T	C	5: 137,293,569 (GRCm39)	I173T	probably damaging	Het
Zbtb40	A	G	4: 136,746,072 (GRCm39)		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
IGL02666:Drd3	APN	16	43,637,319 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TTTCTTTGCAACCCAGGGGC -3'
(R):5'- AGCTGGGGAGGTAGTATATCTC -3'

Sequencing Primer
(F):5'- AACCCAGGGGCCTTCATTGTC -3'
(R):5'- CTCTATCGTGGAGTAAACAGCTTC -3'

Posted On

2015-11-11