Incidental Mutation 'R2047:Drd5'
ID 222082
Institutional Source Beutler Lab
Gene Symbol Drd5
Ensembl Gene ENSMUSG00000039358
Gene Name dopamine receptor D5
Synonyms DRD1b, Drd-5, Drd1b, D5R, Gpcr1
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 38476742-38479868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38477679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 224 (S224L)
Ref Sequence ENSEMBL: ENSMUSP00000039691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041646]
AlphaFold Q8BLD9
Predicted Effect probably damaging
Transcript: ENSMUST00000041646
AA Change: S224L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: S224L

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
Meta Mutation Damage Score 0.6650 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Pycr1 A T 11: 120,532,512 (GRCm39) D168E possibly damaging Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAAGATGACCCAGCGTGTAG -3'
(R):5'- CGGACAGGGTTTTGAAGACC -3'

Sequencing Primer
(F):5'- CGTGTAGCCCTGGTCATG -3'
(R):5'- CCTTCTTGATGGATGCTCGCAG -3'
Posted On 2014-08-25