Mutagenetix > Incidental Mutation

Incidental Mutation 'R0402:Drd2'

35627

Institutional Source

Beutler Lab

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

D2R, D2 receptor, Drd-2

MMRRC Submission

038607-MU

Accession Numbers

Essential gene?

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

Stock #

R0402 (G1)

Quality Score

107

Status

Validated

Chromosome

Chromosomal Location

49251927-49319477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49316271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 344 (I344V)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

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

AlphaFold

P61168

Predicted Effect

probably benign
Transcript: ENSMUST00000075764
AA Change: I344V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: I344V

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

0.1004

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,445,115 (GRCm39)	K165N	probably damaging	Het
Adam6b	T	A	12: 113,453,615 (GRCm39)	M144K	probably damaging	Het
Arhgap44	T	C	11: 64,922,903 (GRCm39)		probably benign	Het
Arl5c	T	A	11: 97,885,939 (GRCm39)	I21F	probably damaging	Het
Bglap2	C	T	3: 88,285,552 (GRCm39)	G40D	probably damaging	Het
Bptf	T	C	11: 106,964,940 (GRCm39)	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,129,896 (GRCm39)	T209A	probably damaging	Het
Ccr8	A	G	9: 119,923,976 (GRCm39)		probably null	Het
Chkb	C	T	15: 89,313,610 (GRCm39)	R65Q	probably benign	Het
Col4a1	T	C	8: 11,249,838 (GRCm39)		probably benign	Het
Cryzl2	A	G	1: 157,292,014 (GRCm39)	T98A	probably benign	Het
D430041D05Rik	T	C	2: 103,998,509 (GRCm39)	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,643,223 (GRCm39)	T765N	probably damaging	Het
Dicer1	T	C	12: 104,697,323 (GRCm39)	D78G	probably benign	Het
Edil3	A	T	13: 89,347,570 (GRCm39)		probably benign	Het
Fbxw19	C	T	9: 109,313,493 (GRCm39)	G235D	probably benign	Het
Fzd1	T	C	5: 4,805,702 (GRCm39)	K627E	possibly damaging	Het
Garin1b	A	G	6: 29,323,901 (GRCm39)	T209A	probably benign	Het
Garin4	T	C	1: 190,896,637 (GRCm39)	D2G	probably benign	Het
Gm10638	A	G	8: 87,472,828 (GRCm39)		probably benign	Het
H6pd	G	T	4: 150,080,773 (GRCm39)	A24E	probably damaging	Het
Hectd2	G	T	19: 36,578,929 (GRCm39)		probably null	Het
Hps5	A	G	7: 46,440,333 (GRCm39)		probably benign	Het
Irx3	T	C	8: 92,527,296 (GRCm39)	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,826,568 (GRCm39)	M1V	probably null	Het
Klrb1	A	T	6: 128,687,583 (GRCm39)	F104I	probably benign	Het
Lrfn5	T	C	12: 61,886,803 (GRCm39)	M197T	probably benign	Het
Mpdz	A	C	4: 81,279,677 (GRCm39)	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,432,466 (GRCm39)	E258*	probably null	Het
Mylk3	T	A	8: 86,079,539 (GRCm39)	H373L	probably damaging	Het
Myrfl	A	G	10: 116,664,882 (GRCm39)	S383P	probably damaging	Het
Nt5c	T	C	11: 115,381,468 (GRCm39)	*195W	probably null	Het
Ocstamp	A	G	2: 165,238,184 (GRCm39)	V360A	possibly damaging	Het
Or10ak16	A	T	4: 118,750,426 (GRCm39)	I49F	possibly damaging	Het
Or10al6	T	A	17: 38,083,284 (GRCm39)	C247S	probably damaging	Het
Or4k35	A	G	2: 111,100,208 (GRCm39)	F168S	probably damaging	Het
Or4p19	A	T	2: 88,242,378 (GRCm39)	V208D	probably damaging	Het
Or5an9	A	G	19: 12,186,953 (GRCm39)	T8A	probably damaging	Het
Otop2	T	C	11: 115,217,234 (GRCm39)		probably benign	Het
Pom121l2	A	T	13: 22,172,649 (GRCm39)		probably benign	Het
Pon2	T	A	6: 5,272,410 (GRCm39)	K137*	probably null	Het
Ppip5k2	T	A	1: 97,647,579 (GRCm39)	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,276,729 (GRCm39)	V504M	probably damaging	Het
Rph3a	G	A	5: 121,080,317 (GRCm39)	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,107,342 (GRCm39)		probably benign	Het
Slc15a2	G	A	16: 36,595,960 (GRCm39)	T154I	probably benign	Het
Slc45a3	T	C	1: 131,905,265 (GRCm39)	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,393,497 (GRCm39)	S101P	probably damaging	Het
Smco2	T	C	6: 146,772,633 (GRCm39)		probably benign	Het
Spata2	A	T	2: 167,325,580 (GRCm39)	V413E	probably benign	Het
Specc1l	A	G	10: 75,082,260 (GRCm39)	E552G	probably damaging	Het
Sstr5	C	T	17: 25,711,008 (GRCm39)	V74M	probably benign	Het
Timm50	G	A	7: 28,006,280 (GRCm39)	R274W	probably damaging	Het
Tll2	A	G	19: 41,087,132 (GRCm39)	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,507,685 (GRCm39)	R459M	possibly damaging	Het
Txk	A	G	5: 72,889,105 (GRCm39)		probably null	Het
Uroc1	A	G	6: 90,324,284 (GRCm39)	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,187,083 (GRCm39)	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,141 (GRCm39)	E737G	probably damaging	Het
Wfs1	A	G	5: 37,134,324 (GRCm39)		probably benign	Het
Zfp1	G	A	8: 112,396,875 (GRCm39)	E285K	probably damaging	Het
Zfp1005	T	A	2: 150,111,136 (GRCm39)	C609S	possibly damaging	Het
Zfp661	G	A	2: 127,419,640 (GRCm39)	Q167*	probably null	Het
Zswim8	T	C	14: 20,760,834 (GRCm39)	F36S	probably damaging	Het
Zw10	A	G	9: 48,980,023 (GRCm39)	T385A	probably benign	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
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
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'- TGGAAATGGAGATGCTGTCAAGCAC -3'
(R):5'- ACTGAGTCAAACTGCCTTAGTTATGCC -3'

Sequencing Primer
(F):5'- TGCTGTCAAGCACCAGCC -3'
(R):5'- CTATGGTCAACAAGGCAGAGTC -3'

Posted On

2013-05-09