Incidental Mutation 'R5255:Drd5'
ID399465
Institutional Source Beutler Lab
Gene Symbol Drd5
Ensembl Gene ENSMUSG00000039358
Gene Namedopamine receptor D5
SynonymsD5R, Gpcr1, Drd1b, Drd-5, DRD1b
MMRRC Submission 042826-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R5255 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location38319367-38322518 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 38319967 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 101 (V101G)
Ref Sequence ENSEMBL: ENSMUSP00000039691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041646]
Predicted Effect probably damaging
Transcript: ENSMUST00000041646
AA Change: V101G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: V101G

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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
4921501E09Rik A T 17: 33,066,765 C354* probably null Het
Abcf1 A T 17: 35,959,737 probably null Het
Abr T A 11: 76,455,683 E434V probably damaging Het
Acaca T A 11: 84,311,307 L197Q probably damaging Het
Acot10 A G 15: 20,665,932 I241T probably benign Het
Acp6 T C 3: 97,167,996 V182A probably benign Het
Ahnak2 G A 12: 112,773,378 T1420I possibly damaging Het
Akr1c6 A T 13: 4,447,019 K153N probably benign Het
Ank3 T C 10: 69,885,200 L600P probably damaging Het
Arhgef1 G A 7: 24,925,022 A824T probably damaging Het
B230307C23Rik T A 16: 98,008,691 N22K possibly damaging Het
Btn1a1 A G 13: 23,464,154 probably benign Het
Cenpf G A 1: 189,672,627 T352I possibly damaging Het
Ces4a C A 8: 105,142,489 F185L probably benign Het
Clybl A C 14: 122,384,279 E293A probably benign Het
Cobl A G 11: 12,375,825 W217R probably damaging Het
D430041D05Rik T C 2: 104,256,600 N677S probably benign Het
Ddx51 C A 5: 110,656,042 T390N possibly damaging Het
Elmo3 C T 8: 105,307,353 P244L probably benign Het
Esrrg G A 1: 188,146,358 R189H probably damaging Het
Fxr2 A G 11: 69,643,841 T183A probably benign Het
Gjd4 T C 18: 9,280,613 H155R probably benign Het
Hivep2 T A 10: 14,131,267 probably null Het
Ints10 T C 8: 68,793,972 probably benign Het
Kank4 T C 4: 98,778,972 T413A probably benign Het
Mapkbp1 T C 2: 120,017,254 V568A probably damaging Het
Mobp A G 9: 120,168,353 probably benign Het
Mpst A G 15: 78,410,508 S147G probably benign Het
Myo5b A T 18: 74,662,670 Y559F possibly damaging Het
Nceh1 T C 3: 27,183,139 I21T probably damaging Het
Olfr1303 T C 2: 111,814,178 K183E probably benign Het
Ralgps1 A T 2: 33,276,159 V126E probably damaging Het
Rnls A G 19: 33,382,423 V115A probably damaging Het
Scn1a A T 2: 66,277,669 V1554D probably damaging Het
Slc16a11 T A 11: 70,215,432 D165E probably damaging Het
Slc16a5 A G 11: 115,462,675 T23A probably benign Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Slc3a1 A T 17: 85,028,453 probably null Het
Slitrk6 A T 14: 110,749,753 *841K probably null Het
Syngr1 A G 15: 80,091,446 Y18C possibly damaging Het
Tarbp1 T G 8: 126,428,970 D1343A probably benign Het
Vac14 T A 8: 110,634,329 I177N probably damaging Het
Vmn1r218 A T 13: 23,136,711 D76V possibly damaging Het
Wdr75 T A 1: 45,799,117 I62N probably damaging Het
Zfp12 A T 5: 143,240,379 I68L probably null Het
Zswim8 T A 14: 20,721,651 Y1551N probably damaging Het
Other mutations in Drd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03153:Drd5 APN 5 38319781 missense probably benign 0.25
PIT4305001:Drd5 UTSW 5 38320584 missense probably damaging 1.00
R0051:Drd5 UTSW 5 38320614 missense probably benign 0.39
R0051:Drd5 UTSW 5 38320614 missense probably benign 0.39
R0571:Drd5 UTSW 5 38319927 missense probably damaging 1.00
R1507:Drd5 UTSW 5 38320722 missense probably damaging 1.00
R1663:Drd5 UTSW 5 38320855 missense probably benign 0.02
R1777:Drd5 UTSW 5 38320161 missense probably damaging 1.00
R1932:Drd5 UTSW 5 38319976 missense probably benign 0.14
R1986:Drd5 UTSW 5 38320113 missense probably damaging 0.99
R2047:Drd5 UTSW 5 38320336 missense probably damaging 1.00
R3875:Drd5 UTSW 5 38319814 missense possibly damaging 0.84
R5033:Drd5 UTSW 5 38320201 missense probably damaging 1.00
R5201:Drd5 UTSW 5 38320023 missense probably damaging 0.96
R5393:Drd5 UTSW 5 38320905 missense probably benign
R5639:Drd5 UTSW 5 38319835 missense possibly damaging 0.81
R7241:Drd5 UTSW 5 38320536 missense probably damaging 1.00
R7520:Drd5 UTSW 5 38320852 missense probably benign 0.00
R7739:Drd5 UTSW 5 38320078 missense probably damaging 1.00
Z1177:Drd5 UTSW 5 38320386 missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGACTCTCTTAATCGTCTGGAC -3'
(R):5'- CTTGTCTCTGTGCCAATTGAG -3'

Sequencing Primer
(F):5'- AATCGTCTGGACCTTGCTCGG -3'
(R):5'- ACAAGGTCCAGGCCAGG -3'
Posted On2016-07-06