Mutagenetix > Incidental Mutation

Incidental Mutation 'R9444:Drd2'

713820

Institutional Source

Beutler Lab

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

D2R, D2 receptor, Drd-2

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9444 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49251927-49319477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49318347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 430 (F430L)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

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

AlphaFold

P61168

Predicted Effect

probably damaging
Transcript: ENSMUST00000075764
AA Change: F430L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: F430L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,854,724 (GRCm39)	D106G	probably damaging	Het
Acacb	T	C	5: 114,384,020 (GRCm39)	I2183T	probably damaging	Het
Adam17	A	C	12: 21,375,536 (GRCm39)	L761R	probably benign	Het
Apobr	A	G	7: 126,185,140 (GRCm39)	D217G	probably benign	Het
Arhgap12	A	T	18: 6,052,909 (GRCm39)	Y434*	probably null	Het
Brwd1	T	C	16: 95,855,180 (GRCm39)	D416G	possibly damaging	Het
C1qtnf2	T	C	11: 43,376,661 (GRCm39)	I11T	probably damaging	Het
C1qtnf6	C	T	15: 78,411,544 (GRCm39)	C44Y	probably damaging	Het
Cacna1d	A	C	14: 29,829,741 (GRCm39)		probably null	Het
Card11	T	A	5: 140,894,393 (GRCm39)	I79F	probably damaging	Het
Chuk	T	C	19: 44,075,385 (GRCm39)	D490G		Het
Cilp2	T	C	8: 70,335,546 (GRCm39)	D484G	probably damaging	Het
Col8a1	C	A	16: 57,448,455 (GRCm39)	G352*	probably null	Het
Csmd1	A	G	8: 16,208,250 (GRCm39)	F1235S	probably benign	Het
Dop1b	T	A	16: 93,607,127 (GRCm39)	D2260E	probably benign	Het
Fbxl17	A	T	17: 63,778,455 (GRCm39)	I485K	probably damaging	Het
Frem2	A	G	3: 53,560,265 (GRCm39)	V1414A	probably benign	Het
Galnt13	C	A	2: 55,002,928 (GRCm39)	S578R	probably benign	Het
Gfra2	T	A	14: 71,203,751 (GRCm39)	M300K	possibly damaging	Het
Gm12695	C	T	4: 96,612,195 (GRCm39)	A523T	probably damaging	Het
Gm19965	T	C	1: 116,732,393 (GRCm39)	S79P		Het
Hsf1	T	C	15: 76,384,769 (GRCm39)	S487P	probably damaging	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Jag1	A	C	2: 136,936,397 (GRCm39)	W366G	probably damaging	Het
Larp4	T	C	15: 99,909,807 (GRCm39)	S638P	probably benign	Het
Lipm	A	G	19: 34,098,690 (GRCm39)	D388G	probably damaging	Het
Lrp1b	T	A	2: 41,013,730 (GRCm39)	Y1925F		Het
Lrrc37	G	A	11: 103,508,846 (GRCm39)	Q1041*	probably null	Het
Mchr1	T	C	15: 81,121,919 (GRCm39)	V223A	possibly damaging	Het
Mfrp	T	A	9: 44,017,440 (GRCm39)	I505N	probably damaging	Het
Msc	T	C	1: 14,825,714 (GRCm39)	K87E	probably damaging	Het
Myo7a	A	G	7: 97,742,698 (GRCm39)	F433L	possibly damaging	Het
Ncapg2	G	A	12: 116,370,863 (GRCm39)	R4H	probably damaging	Het
Ntrk3	G	A	7: 78,110,805 (GRCm39)	L299F	probably damaging	Het
Nup210	T	A	6: 91,048,885 (GRCm39)	Y457F	probably benign	Het
Or4k15c	T	C	14: 50,321,869 (GRCm39)	K90E		Het
Or4k48	T	C	2: 111,476,132 (GRCm39)	D70G	probably damaging	Het
Or5h18	T	C	16: 58,848,018 (GRCm39)	D84G	probably benign	Het
Or5t18	T	A	2: 86,636,486 (GRCm39)	I286F		Het
Or8g32	A	G	9: 39,305,365 (GRCm39)	N90D	probably benign	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,893,841 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,478,176 (GRCm39)	Y217C	probably damaging	Het
Pde6h	T	G	6: 136,936,359 (GRCm39)	F34C	probably damaging	Het
Pkhd1l1	A	G	15: 44,418,053 (GRCm39)	E2903G	probably benign	Het
Pnp	T	C	14: 51,188,052 (GRCm39)	V113A	probably damaging	Het
Prss35	A	G	9: 86,638,157 (GRCm39)	D309G	probably damaging	Het
Pzp	T	C	6: 128,487,362 (GRCm39)	R501G		Het
Rfx8	A	T	1: 39,709,476 (GRCm39)	V517D	probably damaging	Het
Rnf213	A	G	11: 119,325,623 (GRCm39)	Y1509C		Het
Rtp4	T	C	16: 23,431,836 (GRCm39)	Y123H	probably benign	Het
Sema3e	A	G	5: 14,302,625 (GRCm39)	I717V	possibly damaging	Het
Stap2	A	T	17: 56,307,907 (GRCm39)	V150E	possibly damaging	Het
Stard9	C	A	2: 120,495,414 (GRCm39)	N96K	probably damaging	Het
Stoml2	T	C	4: 43,030,442 (GRCm39)	T93A	probably damaging	Het
Suclg2	T	C	6: 95,543,474 (GRCm39)	D319G	probably damaging	Het
Tcf12	C	T	9: 72,018,040 (GRCm39)	D19N	probably damaging	Het
Tcp10c	T	A	17: 13,581,503 (GRCm39)		probably null	Het
Tll1	T	C	8: 64,469,123 (GRCm39)	Y1000C	probably damaging	Het
Trappc10	G	T	10: 78,033,612 (GRCm39)	T985N	probably benign	Het
Trpc7	T	A	13: 56,923,968 (GRCm39)	K794M	possibly damaging	Het
Unc5c	G	T	3: 141,507,209 (GRCm39)		probably null	Het
Upf2	T	A	2: 6,023,755 (GRCm39)	C702S	unknown	Het
Wdhd1	A	G	14: 47,488,324 (GRCm39)	F728L	possibly 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
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
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'- GTCTTAGTGCCCCAAGGAAG -3'
(R):5'- AGCTAACACTGCAGAGCCTG -3'

Sequencing Primer
(F):5'- TTCACCCAGTGCCAGCCTG -3'
(R):5'- GCCTGCAGGGTCAAGAG -3'

Posted On

2022-06-15