Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Drd2'

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103391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Drd2

Ensembl Gene

ENSMUSG00000032259

Gene Name

dopamine receptor D2

Synonyms

Drd-2, D2 receptor, D2R

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

49340627-49408177 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49402089 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 186 (N186S)

Ref Sequence

ENSEMBL: ENSMUSP00000075170 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075764
AA Change: N186S

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: N186S

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Smgc	T	A	15: 91,860,684	S381T	possibly damaging	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Drd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Drd2	APN	9	49395758	missense	probably damaging	1.00
IGL01407:Drd2	APN	9	49400815	missense	probably damaging	1.00
IGL02011:Drd2	APN	9	49406958	missense	probably damaging	1.00
IGL02417:Drd2	APN	9	49402259	splice site	probably benign
R0374:Drd2	UTSW	9	49399784	missense	probably benign	0.41
R0402:Drd2	UTSW	9	49404971	missense	probably benign	0.00
R0529:Drd2	UTSW	9	49407074	missense	probably benign
R1124:Drd2	UTSW	9	49395640	missense	probably damaging	0.98
R1458:Drd2	UTSW	9	49402212	missense	probably damaging	1.00
R1807:Drd2	UTSW	9	49405067	missense	probably damaging	1.00
R1888:Drd2	UTSW	9	49402142	missense	probably benign	0.05
R1888:Drd2	UTSW	9	49402142	missense	probably benign	0.05
R1971:Drd2	UTSW	9	49407059	missense	probably damaging	1.00
R2192:Drd2	UTSW	9	49403271	missense	probably benign	0.03
R2218:Drd2	UTSW	9	49399794	missense	probably damaging	1.00
R3830:Drd2	UTSW	9	49402143	missense	probably damaging	0.99
R4214:Drd2	UTSW	9	49404921	missense	probably benign	0.00
R4595:Drd2	UTSW	9	49404789	missense	probably benign	0.03
R5392:Drd2	UTSW	9	49395628	missense	possibly damaging	0.80
R5415:Drd2	UTSW	9	49402253	missense	possibly damaging	0.81
R5598:Drd2	UTSW	9	49407015	missense	possibly damaging	0.94
R5646:Drd2	UTSW	9	49404912	missense	probably benign
R5715:Drd2	UTSW	9	49404889	missense	probably benign	0.00
R5901:Drd2	UTSW	9	49406959	nonsense	probably null
R6365:Drd2	UTSW	9	49406949	missense	probably damaging	1.00
R6748:Drd2	UTSW	9	49403202	nonsense	probably null
R7017:Drd2	UTSW	9	49400829	missense	probably benign	0.32
R7754:Drd2	UTSW	9	49404977	missense	probably benign
X0022:Drd2	UTSW	9	49400781	missense	probably damaging	1.00
Z1176:Drd2	UTSW	9	49395655	nonsense	probably null

Posted On

2014-01-21