Incidental Mutation 'IGL01944:Drd3'
ID181201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drd3
Ensembl Gene ENSMUSG00000022705
Gene Namedopamine receptor D3
SynonymsD3 receptor, D3R
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL01944
Quality Score
Status
Chromosome16
Chromosomal Location43754026-43822932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43818308 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
Ref Sequence ENSEMBL: ENSMUSP00000023390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023390] [ENSMUST00000229953]
Predicted Effect probably benign
Transcript: ENSMUST00000023390
AA Change: F259L

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023390
Gene: ENSMUSG00000022705
AA Change: F259L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 40 234 4.5e-9 PFAM
Pfam:7tm_1 46 429 5.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000229953
AA Change: F291L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
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 D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show exploratory hyperactivity and increased locomotion and rearing behavior, with heterozygous mice displaying similar, but less pronounced, behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 T A 5: 135,011,376 V202D probably damaging Het
Afdn A G 17: 13,810,481 N218S probably damaging Het
AI314180 G T 4: 58,861,544 T345K probably benign Het
Arhgef1 G A 7: 24,925,783 probably null Het
Atp1a2 G T 1: 172,276,187 T959K probably damaging Het
Atp6v0a2 A G 5: 124,636,105 E96G probably benign Het
B9d1 A T 11: 61,512,379 M52L probably benign Het
Col6a6 T A 9: 105,783,909 I334F probably damaging Het
Drosha T G 15: 12,889,719 L891R probably damaging Het
Fam71e2 T C 7: 4,770,695 N67S possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Greb1l T C 18: 10,557,280 V1760A possibly damaging Het
Il1f8 T A 2: 24,155,279 W48R probably damaging Het
Ipo9 C A 1: 135,405,886 V353F probably damaging Het
Kmt2a A T 9: 44,849,767 F126I probably damaging Het
Mmrn1 T C 6: 60,971,183 probably null Het
Nup214 T A 2: 32,034,959 C328* probably null Het
Olfr1013 A G 2: 85,770,040 I80V probably damaging Het
Pcdh17 G T 14: 84,447,520 V476L probably benign Het
Pcdh17 T A 14: 84,447,521 V476E probably damaging Het
Prpf38b A T 3: 108,904,675 S291R probably benign Het
Rap1gap T C 4: 137,725,620 S601P probably damaging Het
Rnf213 T C 11: 119,416,457 Y648H probably benign Het
Slfn3 A G 11: 83,213,148 T282A possibly damaging Het
Ttll3 C T 6: 113,414,115 T887I probably benign Het
Vmn1r197 A G 13: 22,328,338 N143S possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Xpo4 T C 14: 57,604,398 I487V probably benign Het
Other mutations in Drd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00326:Drd3 APN 16 43762321 missense probably benign 0.01
IGL01715:Drd3 APN 16 43821268 missense probably damaging 0.98
IGL02212:Drd3 APN 16 43762312 missense probably benign 0.21
IGL02666:Drd3 APN 16 43816956 splice site probably benign
R0529:Drd3 UTSW 16 43822714 missense probably damaging 1.00
R1102:Drd3 UTSW 16 43762483 missense probably damaging 1.00
R1310:Drd3 UTSW 16 43821529 missense probably damaging 0.96
R1548:Drd3 UTSW 16 43821341 missense probably benign 0.01
R3124:Drd3 UTSW 16 43822792 missense probably damaging 1.00
R3753:Drd3 UTSW 16 43817103 missense probably damaging 1.00
R4363:Drd3 UTSW 16 43762359 missense probably damaging 1.00
R4724:Drd3 UTSW 16 43822801 nonsense probably null
R4725:Drd3 UTSW 16 43822801 nonsense probably null
R4726:Drd3 UTSW 16 43822801 nonsense probably null
R5016:Drd3 UTSW 16 43762246 missense possibly damaging 0.88
R5850:Drd3 UTSW 16 43818332 missense probably benign 0.00
R6052:Drd3 UTSW 16 43821283 missense probably benign 0.01
R6377:Drd3 UTSW 16 43821307 nonsense probably null
R6888:Drd3 UTSW 16 43817139 missense probably benign 0.22
R6928:Drd3 UTSW 16 43821320 missense probably benign 0.16
R7031:Drd3 UTSW 16 43762498 missense probably damaging 0.98
R7089:Drd3 UTSW 16 43807378 missense probably damaging 1.00
R7447:Drd3 UTSW 16 43817063 nonsense probably null
R7567:Drd3 UTSW 16 43822684 missense probably benign 0.00
R7575:Drd3 UTSW 16 43817133 missense probably benign 0.11
R7772:Drd3 UTSW 16 43762395 missense probably benign 0.05
Posted On2014-05-07