Mutagenetix > Incidental Mutation

Incidental Mutation 'R4595:Drd2'

344328

Institutional Source

Beutler Lab

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

D2R, D2 receptor, Drd-2

MMRRC Submission

041811-MU

Accession Numbers

Essential gene?

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

Stock #

R4595 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49251927-49319477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49316089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 283 (M283K)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

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

AlphaFold

P61168

Predicted Effect

probably benign
Transcript: ENSMUST00000075764
AA Change: M283K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: M283K

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

0.0743

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (62/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
4921536K21Rik	A	G	11: 3,840,052 (GRCm39)	I115T	probably benign	Het
Acads	A	T	5: 115,251,123 (GRCm39)	N120K	probably damaging	Het
Aco1	T	A	4: 40,167,139 (GRCm39)	C118S	probably benign	Het
Alpk2	T	C	18: 65,422,819 (GRCm39)	T1493A	probably damaging	Het
AU018091	A	G	7: 3,208,268 (GRCm39)	Y480H	possibly damaging	Het
Brd4	A	T	17: 32,417,896 (GRCm39)	I86N	probably damaging	Het
Ccdc180	A	G	4: 45,945,023 (GRCm39)	E1477G	probably damaging	Het
Ccne2	A	G	4: 11,202,986 (GRCm39)	N368S	probably benign	Het
Cenpp	A	T	13: 49,794,710 (GRCm39)	F152L	probably benign	Het
Cfap46	T	A	7: 139,232,320 (GRCm39)	D881V	possibly damaging	Het
Chmp7	A	G	14: 69,958,678 (GRCm39)	V212A	probably damaging	Het
Col9a2	A	T	4: 120,902,352 (GRCm39)	K196N	probably benign	Het
Copg2	T	C	6: 30,749,449 (GRCm39)	D814G	probably damaging	Het
Dcaf13	G	A	15: 38,982,288 (GRCm39)	G85R	probably damaging	Het
Dnah9	A	G	11: 66,058,978 (GRCm39)	S106P	probably benign	Het
Dpp8	A	G	9: 64,983,085 (GRCm39)	D739G	probably damaging	Het
Espl1	A	G	15: 102,207,159 (GRCm39)	T208A	probably benign	Het
Glul	G	A	1: 153,778,796 (GRCm39)	G35D	possibly damaging	Het
Gm14412	T	C	2: 177,007,005 (GRCm39)	K297E	unknown	Het
Gm21976	A	T	13: 98,442,318 (GRCm39)	R120W	probably damaging	Het
Hipk3	T	A	2: 104,271,622 (GRCm39)	T437S	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lipn	T	G	19: 34,058,750 (GRCm39)	Y321D	probably damaging	Het
Lrwd1	A	G	5: 136,152,810 (GRCm39)	V484A	probably benign	Het
Madd	T	C	2: 90,998,009 (GRCm39)	D673G	possibly damaging	Het
Marveld1	T	A	19: 42,136,203 (GRCm39)	L39Q	probably damaging	Het
Mfsd2b	T	C	12: 4,915,807 (GRCm39)	T299A	possibly damaging	Het
Micu3	T	C	8: 40,812,438 (GRCm39)		probably benign	Het
Mmp7	T	C	9: 7,697,667 (GRCm39)	V234A	probably damaging	Het
Nhsl1	T	A	10: 18,403,357 (GRCm39)	D1329E	probably benign	Het
Or4a15	C	T	2: 89,193,669 (GRCm39)	V35M	probably damaging	Het
Or4f14b	T	C	2: 111,774,997 (GRCm39)	D268G	possibly damaging	Het
Or52a33	A	G	7: 103,289,308 (GRCm39)	F13S	probably damaging	Het
Pcdhb21	T	A	18: 37,647,568 (GRCm39)	D232E	probably damaging	Het
Pebp1	G	T	5: 117,421,475 (GRCm39)	D156E	probably benign	Het
Pik3cb	A	G	9: 98,937,459 (GRCm39)	Y745H	possibly damaging	Het
Pld2	T	C	11: 70,432,846 (GRCm39)	L170P	probably damaging	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rab11fip1	A	T	8: 27,644,603 (GRCm39)	M394K	probably damaging	Het
Rhoq	T	C	17: 87,271,754 (GRCm39)	Y57H	probably benign	Het
Setbp1	T	C	18: 78,900,731 (GRCm39)	I979V	probably benign	Het
Slc6a4	A	G	11: 76,910,689 (GRCm39)	I447V	probably benign	Het
Sos2	T	C	12: 69,663,663 (GRCm39)	K607R	probably damaging	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Syne2	A	T	12: 76,013,845 (GRCm39)	Q3012L	possibly damaging	Het
Taf1b	T	A	12: 24,550,441 (GRCm39)	F9I	possibly damaging	Het
Tex35	T	A	1: 156,926,909 (GRCm39)	Y195F	probably benign	Het
Tnc	T	C	4: 63,913,982 (GRCm39)	T1277A	probably damaging	Het
Tnfsf15	G	T	4: 63,648,180 (GRCm39)	Y153*	probably null	Het
Trim5	C	A	7: 103,914,639 (GRCm39)	V477F	probably damaging	Het
Trp73	A	G	4: 154,148,874 (GRCm39)	I245T	probably damaging	Het
Zbtb16	C	T	9: 48,743,380 (GRCm39)	E311K	possibly damaging	Het
Zmynd19	A	G	2: 24,849,000 (GRCm39)	D165G	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
R0529:Drd2	UTSW	9	49,318,374 (GRCm39)	missense	probably benign
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
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'- AACTGCCGTGAGTTTGAGTG -3'
(R):5'- TCTCAAAGAACTTGGCAATCCTG -3'

Sequencing Primer
(F):5'- AGTGCTGTATTCAGATGGTCCC -3'
(R):5'- AATCCTGGGATTGACAATCTTGGC -3'

Posted On

2015-09-25