Incidental Mutation 'R5201:Drd5'
ID 400775
Institutional Source Beutler Lab
Gene Symbol Drd5
Ensembl Gene ENSMUSG00000039358
Gene Name dopamine receptor D5
Synonyms DRD1b, Drd-5, Drd1b, D5R, Gpcr1
MMRRC Submission 042776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R5201 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 38476742-38479868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 38477366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 120 (M120L)
Ref Sequence ENSEMBL: ENSMUSP00000039691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041646]
AlphaFold Q8BLD9
Predicted Effect probably damaging
Transcript: ENSMUST00000041646
AA Change: M120L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: M120L

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C A 15: 81,946,745 (GRCm39) T214N probably benign Het
Actn4 A T 7: 28,615,680 (GRCm39) probably null Het
Arap2 T C 5: 62,840,832 (GRCm39) E678G probably damaging Het
Atl2 T C 17: 80,172,580 (GRCm39) N130S probably benign Het
Cby2 A G 14: 75,821,449 (GRCm39) V101A probably damaging Het
Cyp2b10 A G 7: 25,616,419 (GRCm39) D342G probably damaging Het
Dnah6 A G 6: 73,172,715 (GRCm39) Y248H possibly damaging Het
Duox1 A G 2: 122,158,403 (GRCm39) R629G probably benign Het
Dyrk1b A G 7: 27,884,521 (GRCm39) Y279C probably damaging Het
Efemp1 A T 11: 28,864,590 (GRCm39) I215L probably benign Het
Enpp6 C A 8: 47,518,486 (GRCm39) Q205K probably damaging Het
Fam170a A T 18: 50,415,193 (GRCm39) T280S probably benign Het
Fam222a G A 5: 114,749,127 (GRCm39) A108T possibly damaging Het
Fgd3 G T 13: 49,449,854 (GRCm39) P132T probably benign Het
Fzr1 A T 10: 81,203,362 (GRCm39) L399H probably damaging Het
Galnt15 G A 14: 31,771,822 (GRCm39) R289Q probably damaging Het
Hira T C 16: 18,770,865 (GRCm39) V834A probably damaging Het
Ilf3 T C 9: 21,300,679 (GRCm39) L93P probably damaging Het
Itgae G A 11: 73,001,382 (GRCm39) R71Q probably benign Het
Itprid1 T C 6: 55,944,991 (GRCm39) S571P probably benign Het
Kif14 T A 1: 136,431,145 (GRCm39) S1181T probably benign Het
Lrig3 C A 10: 125,849,020 (GRCm39) P946Q possibly damaging Het
Macf1 A T 4: 123,369,738 (GRCm39) C1674* probably null Het
Malt1 A G 18: 65,609,126 (GRCm39) K710R probably benign Het
Man1a2 A T 3: 100,524,328 (GRCm39) N373K probably benign Het
Mpped2 A G 2: 106,529,847 (GRCm39) N32S possibly damaging Het
Mrtfb A C 16: 13,219,456 (GRCm39) T701P probably benign Het
Myh10 A T 11: 68,674,021 (GRCm39) T652S probably damaging Het
Nfia A G 4: 97,999,462 (GRCm39) Y485C probably damaging Het
Olfml2b A T 1: 170,496,433 (GRCm39) T355S probably benign Het
Or10q3 A T 19: 11,847,995 (GRCm39) I195K probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh1 A T 18: 38,331,971 (GRCm39) V344D probably damaging Het
Plekhn1 C A 4: 156,314,984 (GRCm39) V558L probably benign Het
Prr14l A G 5: 32,987,591 (GRCm39) S635P possibly damaging Het
Prss46 T A 9: 110,680,543 (GRCm39) C229* probably null Het
Rad50 A G 11: 53,589,647 (GRCm39) probably null Het
Slc27a3 A T 3: 90,296,526 (GRCm39) L191Q probably benign Het
Surf4 A G 2: 26,823,778 (GRCm39) probably benign Het
Taf3 A G 2: 9,956,995 (GRCm39) S391P probably damaging Het
Tep1 A C 14: 51,105,567 (GRCm39) L151R probably benign Het
Tmprss11d A C 5: 86,457,214 (GRCm39) N148K possibly damaging Het
Tpd52l2 G A 2: 181,156,879 (GRCm39) V172I probably benign Het
Vmn2r77 A G 7: 86,460,846 (GRCm39) D724G probably damaging Het
Wdr75 T A 1: 45,862,519 (GRCm39) D779E probably benign Het
Zfp943 A T 17: 22,211,794 (GRCm39) K293N probably damaging Het
Other mutations in Drd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03153:Drd5 APN 5 38,477,124 (GRCm39) missense probably benign 0.25
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
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
Predicted Primers PCR Primer
(F):5'- AATCGTCTGGACCTTGCTCG -3'
(R):5'- CCTTGTCTCTGTGCCAATTGAG -3'

Sequencing Primer
(F):5'- CAACGTCCTAGTGTGTGCTGC -3'
(R):5'- TTGAGTTGGACCGGGATAAAG -3'
Posted On 2016-07-06