Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Drd2'

451117

Institutional Source

Beutler Lab

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

D2R, D2 receptor, Drd-2

MMRRC Submission

043336-MU

Accession Numbers

Essential gene?

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

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

49251927-49319477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49316189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 316 (H316Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

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

AlphaFold

P61168

Predicted Effect

probably benign
Transcript: ENSMUST00000075764
AA Change: H316Q

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

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: H316Q

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,910,777 (GRCm39)	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,605,596 (GRCm39)	D147E	probably benign	Het
Atg4c	G	T	4: 99,146,639 (GRCm39)	L405F	probably damaging	Het
Birc6	C	T	17: 74,938,615 (GRCm39)	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,292,015 (GRCm39)	D379G	probably damaging	Het
Chd6	T	C	2: 160,791,798 (GRCm39)	M2520V	probably benign	Het
Clca4b	A	G	3: 144,619,018 (GRCm39)	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,523,347 (GRCm39)	C2743*	probably null	Het
Coq6	C	A	12: 84,413,681 (GRCm39)	D70E	probably benign	Het
Cspg4	T	A	9: 56,798,335 (GRCm39)	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,452,937 (GRCm39)	L3847P	probably damaging	Het
Dusp19	T	A	2: 80,461,330 (GRCm39)	N206K	probably benign	Het
Fam13c	T	G	10: 70,370,670 (GRCm39)	F270C	probably damaging	Het
Fam20a	T	C	11: 109,569,257 (GRCm39)	E246G	probably damaging	Het
Fbxo31	A	G	8: 122,305,302 (GRCm39)	F65L	probably damaging	Het
Fshr	T	A	17: 89,293,824 (GRCm39)		probably null	Het
Fstl4	T	C	11: 52,891,243 (GRCm39)	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,610,804 (GRCm39)	I75F	probably benign	Het
Grm5	C	A	7: 87,779,464 (GRCm39)	A968E	probably benign	Het
Gucy2g	A	C	19: 55,221,587 (GRCm39)	F305V	possibly damaging	Het
Hivep3	T	C	4: 119,953,570 (GRCm39)	F629L	probably benign	Het
Hoxb1	A	G	11: 96,257,152 (GRCm39)	E167G	probably benign	Het
Hoxd4	T	C	2: 74,557,708 (GRCm39)	L29P	probably damaging	Het
Ikbkb	A	G	8: 23,168,866 (GRCm39)	L211P	probably damaging	Het
Insc	T	C	7: 114,449,076 (GRCm39)	V499A	probably benign	Het
Irak3	A	T	10: 119,978,641 (GRCm39)	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 126,983,927 (GRCm39)	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,871,958 (GRCm39)	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,730,723 (GRCm39)	R172Q	probably benign	Het
Macf1	T	C	4: 123,577,807 (GRCm39)	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,654,314 (GRCm39)	S68T	probably benign	Het
Mlxip	T	A	5: 123,578,121 (GRCm39)	W146R	probably damaging	Het
Mpp2	T	A	11: 101,953,087 (GRCm39)	N285I	probably damaging	Het
Mrgprb4	T	C	7: 47,848,787 (GRCm39)	N47S	probably damaging	Het
Msi2	A	G	11: 88,276,889 (GRCm39)	Y237H	probably damaging	Het
Muc4	C	T	16: 32,570,734 (GRCm39)	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663 (GRCm39)	I253F	probably damaging	Het
Myo5b	G	T	18: 74,875,246 (GRCm39)	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,321,457 (GRCm39)	T1137A	probably benign	Het
Neb	T	C	2: 52,141,780 (GRCm39)	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740 (GRCm39)	V237E	probably damaging	Het
Or52a33	A	C	7: 103,289,009 (GRCm39)	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,688,591 (GRCm39)	K150E	probably damaging	Het
Potegl	T	C	2: 23,097,989 (GRCm39)	Y56H	possibly damaging	Het
Pramel30	A	G	4: 144,057,870 (GRCm39)	D159G	possibly damaging	Het
Ptpn23	G	A	9: 110,216,143 (GRCm39)	R1238W	probably damaging	Het
Pts	C	T	9: 50,433,578 (GRCm39)	G124R	probably damaging	Het
Rfk	A	T	19: 17,376,002 (GRCm39)	I99F	probably benign	Het
Rictor	A	T	15: 6,780,197 (GRCm39)	R151*	probably null	Het
Scn2a	T	A	2: 65,547,928 (GRCm39)	I1040N	probably benign	Het
Serinc5	A	C	13: 92,842,710 (GRCm39)	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,841 (GRCm39)	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,201,551 (GRCm39)	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,498,842 (GRCm39)		probably null	Het
Slc3a2	G	T	19: 8,685,594 (GRCm39)	H168Q	probably benign	Het
Smarca2	A	T	19: 26,626,522 (GRCm39)	I449L	probably benign	Het
Smarcc1	T	C	9: 110,025,435 (GRCm39)	V704A	possibly damaging	Het
Sox13	A	G	1: 133,313,921 (GRCm39)		probably null	Het
Sptbn5	T	C	2: 119,902,985 (GRCm39)	E7G	probably damaging	Het
Stard10	A	G	7: 100,971,110 (GRCm39)	D26G	probably damaging	Het
Tap1	A	T	17: 34,411,868 (GRCm39)	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,099,097 (GRCm39)	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,922 (GRCm39)	Y124*	probably null	Het
Tmprss2	T	A	16: 97,370,183 (GRCm39)	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,790,133 (GRCm39)	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,129,848 (GRCm39)	F154I	probably damaging	Het
Ubn2	T	A	6: 38,438,412 (GRCm39)	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,477 (GRCm39)	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,430 (GRCm39)	D193A	probably damaging	Het
Upf1	A	T	8: 70,805,628 (GRCm39)	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 20,015,201 (GRCm39)	D447V	probably benign	Het
Vps39	T	C	2: 120,155,717 (GRCm39)	N519S	possibly damaging	Het
Zfp109	T	C	7: 23,928,995 (GRCm39)	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,236,239 (GRCm39)	V157G	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
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'- AGAGAAGCCATGCTGTTTGC -3'
(R):5'- CAAGCATCTGAGTGGCTTTC -3'

Sequencing Primer
(F):5'- GCTTCTGCCCAGGAATTTCATC -3'
(R):5'- AAGCATCTGAGTGGCTTTCTTCTC -3'

Posted On

2017-01-03