Incidental Mutation 'IGL00334:Drd4'
ID5093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drd4
Ensembl Gene ENSMUSG00000025496
Gene Namedopamine receptor D4
SynonymsD4R, Drd-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL00334
Quality Score
Status
Chromosome7
Chromosomal Location141292006-141296464 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 141292183 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 49 (N49S)
Ref Sequence ENSEMBL: ENSMUSP00000026569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026569] [ENSMUST00000080553]
Predicted Effect probably damaging
Transcript: ENSMUST00000026569
AA Change: N49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026569
Gene: ENSMUSG00000025496
AA Change: N49S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 40 182 9.6e-9 PFAM
Pfam:7tm_1 48 368 1.8e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080553
SMART Domains Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886

DomainStartEndE-ValueType
SCOP:d1gkub1 6 35 9e-3 SMART
low complexity region 43 68 N/A INTRINSIC
low complexity region 88 105 N/A INTRINSIC
low complexity region 167 186 N/A INTRINSIC
SAND 202 274 9.78e-40 SMART
low complexity region 277 286 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
Pfam:zf-MYND 505 541 8.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209649
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 D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are less active in open field tests and have reduced responses to novelty. However, mice exhibit locomotor supersensitivity to ethanol, cocaine, and methamphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyb5r3 C A 15: 83,160,404 A138S probably benign Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Drd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01542:Drd4 APN 7 141293831 unclassified probably benign
R2314:Drd4 UTSW 7 141293941 missense probably damaging 1.00
R2484:Drd4 UTSW 7 141294736 missense probably benign
R3054:Drd4 UTSW 7 141294479 missense probably damaging 0.99
R3055:Drd4 UTSW 7 141294479 missense probably damaging 0.99
R3108:Drd4 UTSW 7 141292282 missense possibly damaging 0.95
R3109:Drd4 UTSW 7 141292282 missense possibly damaging 0.95
R4597:Drd4 UTSW 7 141294479 missense probably damaging 0.99
R4964:Drd4 UTSW 7 141293777 missense probably damaging 1.00
R4966:Drd4 UTSW 7 141293777 missense probably damaging 1.00
R5474:Drd4 UTSW 7 141293728 missense probably damaging 1.00
R6010:Drd4 UTSW 7 141294796 missense probably damaging 1.00
R6480:Drd4 UTSW 7 141294793 missense possibly damaging 0.71
R7206:Drd4 UTSW 7 141292119 missense probably damaging 0.98
Posted On2012-04-20