Mutagenetix > Incidental Mutation

Incidental Mutation 'R0529:Drd2'

49060

Institutional Source

Beutler Lab

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

D2R, D2 receptor, Drd-2

MMRRC Submission

038721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R0529 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

49251927-49319477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 49318374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 439 (M439L)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075764]

AlphaFold

P61168

Predicted Effect

probably benign
Transcript: ENSMUST00000075764
AA Change: M439L

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

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: M439L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	45	238	2.5e-15	PFAM
Pfam:7tm_1	51	427	1.2e-88	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show Parkinson's disease like symptoms, including akinetic and bradykinetic behavior. Mice lacking only the long isoform are hypoactive and exhibit increased sterotypic behavior in response to dopamine agonists. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,211,228 (GRCm39)	V126I	probably benign	Het
Aasdh	A	C	5: 77,024,114 (GRCm39)	Y179*	probably null	Het
Afp	A	G	5: 90,652,254 (GRCm39)	Y415C	probably damaging	Het
Aldh5a1	G	T	13: 25,097,856 (GRCm39)	T393K	probably benign	Het
Arhgef26	T	C	3: 62,247,146 (GRCm39)	S77P	probably benign	Het
Axl	A	G	7: 25,486,712 (GRCm39)		probably benign	Het
Card10	A	G	15: 78,664,675 (GRCm39)		probably null	Het
Ccdc71l	G	A	12: 32,429,251 (GRCm39)	S90N	probably damaging	Het
Cebpa	A	T	7: 34,819,624 (GRCm39)	T261S	probably benign	Het
Cnmd	T	C	14: 79,879,481 (GRCm39)	E219G	probably benign	Het
Cntln	T	A	4: 84,986,062 (GRCm39)	L1010H	probably damaging	Het
Cul9	A	G	17: 46,831,394 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,387 (GRCm39)	E479G	probably benign	Het
Dmp1	A	G	5: 104,360,092 (GRCm39)	E256G	probably benign	Het
Dnmt1	T	C	9: 20,822,846 (GRCm39)	D1140G	probably damaging	Het
Drd3	G	A	16: 43,643,077 (GRCm39)	V438M	probably damaging	Het
Dyrk3	A	G	1: 131,057,858 (GRCm39)	I70T	probably benign	Het
Fbxo38	T	C	18: 62,639,057 (GRCm39)	K1082E	probably damaging	Het
Fbxw10	A	C	11: 62,750,671 (GRCm39)	D428A	probably damaging	Het
Fmn1	T	A	2: 113,538,198 (GRCm39)		probably benign	Het
Fmnl2	A	T	2: 52,932,377 (GRCm39)	I119F	probably damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Gda	T	A	19: 21,402,901 (GRCm39)	I82F	probably damaging	Het
Gpatch4	T	A	3: 87,958,583 (GRCm39)	H22Q	probably damaging	Het
Gpr55	A	G	1: 85,869,225 (GRCm39)	F119L	probably benign	Het
Gtf2i	A	T	5: 134,290,723 (GRCm39)	L425*	probably null	Het
Knstrn	T	A	2: 118,661,461 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,724,335 (GRCm39)	I144L	probably benign	Het
Lrp1	T	C	10: 127,377,463 (GRCm39)		probably null	Het
Mtmr14	T	C	6: 113,243,213 (GRCm39)		probably benign	Het
Nsmce4a	A	T	7: 130,135,536 (GRCm39)	S345R	probably benign	Het
Oacyl	T	A	18: 65,875,290 (GRCm39)	V385D	probably damaging	Het
Or6k8-ps1	G	A	1: 173,979,696 (GRCm39)	A205T	probably benign	Het
Or8b52	A	T	9: 38,576,808 (GRCm39)	C111S	probably benign	Het
Phlpp2	T	C	8: 110,603,603 (GRCm39)	S55P	probably benign	Het
Pkhd1l1	T	A	15: 44,390,150 (GRCm39)	V1422E	possibly damaging	Het
Plcd3	T	G	11: 102,971,013 (GRCm39)	H181P	probably benign	Het
Psmc5	G	A	11: 106,151,990 (GRCm39)		probably null	Het
Psmd11	T	C	11: 80,361,515 (GRCm39)		probably benign	Het
Rab39	T	C	9: 53,598,016 (GRCm39)	Y83C	probably damaging	Het
Ric8a	A	G	7: 140,440,806 (GRCm39)	E93G	probably damaging	Het
Rtp3	T	C	9: 110,816,152 (GRCm39)	E133G	possibly damaging	Het
Serpina1e	A	C	12: 103,915,363 (GRCm39)	L281R	probably damaging	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Tent5c	A	G	3: 100,379,686 (GRCm39)	Y357H	probably benign	Het
Tmem63a	A	T	1: 180,788,659 (GRCm39)	E332V	probably benign	Het
Tnk1	T	C	11: 69,745,990 (GRCm39)	T312A	probably damaging	Het
Traf3ip3	G	T	1: 192,877,119 (GRCm39)		probably benign	Het
Trappc11	A	G	8: 47,980,014 (GRCm39)	V174A	possibly damaging	Het
Vmn1r174	G	A	7: 23,453,622 (GRCm39)	R96H	probably benign	Het
Vmn1r7	T	A	6: 57,001,450 (GRCm39)	Y270F	possibly damaging	Het
Vmn2r12	A	G	5: 109,240,714 (GRCm39)	V133A	probably benign	Het
Vmn2r18	T	A	5: 151,485,988 (GRCm39)	E502V	probably damaging	Het
Wipf3	C	A	6: 54,462,348 (GRCm39)	P186Q	probably damaging	Het
Yipf5	A	T	18: 40,345,215 (GRCm39)	M55K	probably benign	Het
Zbtb7a	G	A	10: 80,979,820 (GRCm39)	V5M	probably damaging	Het
Zfy1	G	T	Y: 726,040 (GRCm39)	S575Y	probably damaging	Het

Other mutations in Drd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Drd2	APN	9	49,307,058 (GRCm39)	missense	probably damaging	1.00
IGL01407:Drd2	APN	9	49,312,115 (GRCm39)	missense	probably damaging	1.00
IGL01669:Drd2	APN	9	49,313,389 (GRCm39)	missense	possibly damaging	0.90
IGL02011:Drd2	APN	9	49,318,258 (GRCm39)	missense	probably damaging	1.00
IGL02417:Drd2	APN	9	49,313,559 (GRCm39)	splice site	probably benign
R0374:Drd2	UTSW	9	49,311,084 (GRCm39)	missense	probably benign	0.41
R0402:Drd2	UTSW	9	49,316,271 (GRCm39)	missense	probably benign	0.00
R1124:Drd2	UTSW	9	49,306,940 (GRCm39)	missense	probably damaging	0.98
R1458:Drd2	UTSW	9	49,313,512 (GRCm39)	missense	probably damaging	1.00
R1807:Drd2	UTSW	9	49,316,367 (GRCm39)	missense	probably damaging	1.00
R1888:Drd2	UTSW	9	49,313,442 (GRCm39)	missense	probably benign	0.05
R1888:Drd2	UTSW	9	49,313,442 (GRCm39)	missense	probably benign	0.05
R1971:Drd2	UTSW	9	49,318,359 (GRCm39)	missense	probably damaging	1.00
R2192:Drd2	UTSW	9	49,314,571 (GRCm39)	missense	probably benign	0.03
R2218:Drd2	UTSW	9	49,311,094 (GRCm39)	missense	probably damaging	1.00
R3830:Drd2	UTSW	9	49,313,443 (GRCm39)	missense	probably damaging	0.99
R4214:Drd2	UTSW	9	49,316,221 (GRCm39)	missense	probably benign	0.00
R4595:Drd2	UTSW	9	49,316,089 (GRCm39)	missense	probably benign	0.03
R5392:Drd2	UTSW	9	49,306,928 (GRCm39)	missense	possibly damaging	0.80
R5415:Drd2	UTSW	9	49,313,553 (GRCm39)	missense	possibly damaging	0.81
R5598:Drd2	UTSW	9	49,318,315 (GRCm39)	missense	possibly damaging	0.94
R5646:Drd2	UTSW	9	49,316,212 (GRCm39)	missense	probably benign
R5715:Drd2	UTSW	9	49,316,189 (GRCm39)	missense	probably benign	0.00
R5901:Drd2	UTSW	9	49,318,259 (GRCm39)	nonsense	probably null
R6365:Drd2	UTSW	9	49,318,249 (GRCm39)	missense	probably damaging	1.00
R6748:Drd2	UTSW	9	49,314,502 (GRCm39)	nonsense	probably null
R7017:Drd2	UTSW	9	49,312,129 (GRCm39)	missense	probably benign	0.32
R7754:Drd2	UTSW	9	49,316,277 (GRCm39)	missense	probably benign
R9092:Drd2	UTSW	9	49,307,004 (GRCm39)	missense	probably benign
R9444:Drd2	UTSW	9	49,318,347 (GRCm39)	missense	probably damaging	1.00
R9488:Drd2	UTSW	9	49,311,094 (GRCm39)	missense	probably damaging	1.00
X0022:Drd2	UTSW	9	49,312,081 (GRCm39)	missense	probably damaging	1.00
Z1176:Drd2	UTSW	9	49,306,955 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCACCAGCAGTTAGCGGTCTTAG -3'
(R):5'- ATGTGAAAGGGGCACTCTGTGAGC -3'

Sequencing Primer
(F):5'- TCTTAGTGCCCCAAGGAAGC -3'
(R):5'- GTAAGATACCAGTCTCCCTGGC -3'

Posted On

2013-06-12