Incidental Mutation 'IGL03153:Drd5'
ID 411172
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drd5
Ensembl Gene ENSMUSG00000039358
Gene Name dopamine receptor D5
Synonyms DRD1b, Drd-5, Drd1b, D5R, Gpcr1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL03153
Quality Score
Status
Chromosome 5
Chromosomal Location 38476742-38479868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38477124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 39 (V39A)
Ref Sequence ENSEMBL: ENSMUSP00000039691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041646]
AlphaFold Q8BLD9
Predicted Effect probably benign
Transcript: ENSMUST00000041646
AA Change: V39A

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: V39A

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
Pfam:7TM_GPCR_Srx 47 177 5.5e-7 PFAM
Pfam:7TM_GPCR_Srsx 49 179 1e-7 PFAM
Pfam:7tm_1 55 354 1.5e-74 PFAM
Pfam:7TM_GPCR_Srsx 210 368 2.4e-6 PFAM
low complexity region 419 430 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181240
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 D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop hypertension and exhibit elevated blood pressure caused by increased sympathetic tone. Mice homozygous for another knock-out allele exhibit increased methamphetamine-induced ambulatory activity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Ptf1a T A 2: 19,451,456 (GRCm39) probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Drd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4305001:Drd5 UTSW 5 38,477,927 (GRCm39) missense probably damaging 1.00
R0051:Drd5 UTSW 5 38,477,957 (GRCm39) missense probably benign 0.39
R0051:Drd5 UTSW 5 38,477,957 (GRCm39) missense probably benign 0.39
R0571:Drd5 UTSW 5 38,477,270 (GRCm39) missense probably damaging 1.00
R1507:Drd5 UTSW 5 38,478,065 (GRCm39) missense probably damaging 1.00
R1663:Drd5 UTSW 5 38,478,198 (GRCm39) missense probably benign 0.02
R1777:Drd5 UTSW 5 38,477,504 (GRCm39) missense probably damaging 1.00
R1932:Drd5 UTSW 5 38,477,319 (GRCm39) missense probably benign 0.14
R1986:Drd5 UTSW 5 38,477,456 (GRCm39) missense probably damaging 0.99
R2047:Drd5 UTSW 5 38,477,679 (GRCm39) missense probably damaging 1.00
R3875:Drd5 UTSW 5 38,477,157 (GRCm39) missense possibly damaging 0.84
R5033:Drd5 UTSW 5 38,477,544 (GRCm39) missense probably damaging 1.00
R5201:Drd5 UTSW 5 38,477,366 (GRCm39) missense probably damaging 0.96
R5255:Drd5 UTSW 5 38,477,310 (GRCm39) missense probably damaging 1.00
R5393:Drd5 UTSW 5 38,478,248 (GRCm39) missense probably benign
R5639:Drd5 UTSW 5 38,477,178 (GRCm39) missense possibly damaging 0.81
R7241:Drd5 UTSW 5 38,477,879 (GRCm39) missense probably damaging 1.00
R7520:Drd5 UTSW 5 38,478,195 (GRCm39) missense probably benign 0.00
R7739:Drd5 UTSW 5 38,477,421 (GRCm39) missense probably damaging 1.00
R8300:Drd5 UTSW 5 38,477,672 (GRCm39) missense probably damaging 0.99
R8746:Drd5 UTSW 5 38,477,433 (GRCm39) missense probably benign 0.04
R8829:Drd5 UTSW 5 38,477,078 (GRCm39) missense probably benign 0.08
R8832:Drd5 UTSW 5 38,477,078 (GRCm39) missense probably benign 0.08
R8870:Drd5 UTSW 5 38,477,747 (GRCm39) missense possibly damaging 0.76
R9600:Drd5 UTSW 5 38,478,174 (GRCm39) missense possibly damaging 0.79
R9705:Drd5 UTSW 5 38,478,027 (GRCm39) missense probably damaging 1.00
R9717:Drd5 UTSW 5 38,478,090 (GRCm39) missense probably damaging 1.00
Z1177:Drd5 UTSW 5 38,477,729 (GRCm39) missense possibly damaging 0.78
Posted On 2016-08-02