Incidental Mutation 'R6966:Drd1'
ID 542019
Institutional Source Beutler Lab
Gene Symbol Drd1
Ensembl Gene ENSMUSG00000021478
Gene Name dopamine receptor D1
Synonyms Gpcr15, Drd1a, D1 receptor, C030036C15Rik, Drd-1
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 54205202-54209677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 54207564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 210 (I210V)
Ref Sequence ENSEMBL: ENSMUSP00000152768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021932] [ENSMUST00000221470]
AlphaFold Q61616
Predicted Effect probably damaging
Transcript: ENSMUST00000021932
AA Change: I217V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021932
Gene: ENSMUSG00000021478
AA Change: I217V

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 33 244 7.9e-10 PFAM
Pfam:7TM_GPCR_Srsx 33 345 7e-11 PFAM
Pfam:7tm_1 39 331 6.5e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221470
AA Change: I210V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations show variably abnormalities that may include growth retardation, death after weaning unless given hydrated food, nonresponsiveness to dopamine D1 receptor agonists and antagonists, and normal to hyperactive locomotor activity. [provided by MGI curators]
Allele List at MGI

All alleles(7) : Targeted, knock-out(3) Targeted, other(4)
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Cd84 A G 1: 171,713,976 (GRCm39) N325D possibly damaging Het
Chid1 T A 7: 141,076,297 (GRCm39) Y357F possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tgm4 T A 9: 122,880,207 (GRCm39) D226E possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Uap1l1 A G 2: 25,254,950 (GRCm39) I146T probably damaging Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Vwa7 T C 17: 35,236,072 (GRCm39) S9P probably benign Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T probably damaging Het
Other mutations in Drd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Drd1 APN 13 54,207,897 (GRCm39) missense probably damaging 1.00
IGL00231:Drd1 APN 13 54,207,486 (GRCm39) missense probably benign
1mM(1):Drd1 UTSW 13 54,207,866 (GRCm39) missense probably damaging 1.00
H8786:Drd1 UTSW 13 54,207,122 (GRCm39) missense possibly damaging 0.92
R0166:Drd1 UTSW 13 54,207,600 (GRCm39) missense probably damaging 1.00
R0333:Drd1 UTSW 13 54,208,082 (GRCm39) missense probably damaging 1.00
R0661:Drd1 UTSW 13 54,207,057 (GRCm39) missense possibly damaging 0.90
R1022:Drd1 UTSW 13 54,207,333 (GRCm39) missense probably benign 0.00
R1024:Drd1 UTSW 13 54,207,333 (GRCm39) missense probably benign 0.00
R1397:Drd1 UTSW 13 54,207,573 (GRCm39) missense probably damaging 1.00
R1559:Drd1 UTSW 13 54,206,964 (GRCm39) missense probably damaging 0.99
R1907:Drd1 UTSW 13 54,207,271 (GRCm39) missense possibly damaging 0.88
R2128:Drd1 UTSW 13 54,207,572 (GRCm39) missense probably damaging 1.00
R4913:Drd1 UTSW 13 54,207,186 (GRCm39) missense probably benign 0.33
R5592:Drd1 UTSW 13 54,208,190 (GRCm39) start codon destroyed probably null 0.90
R5867:Drd1 UTSW 13 54,208,182 (GRCm39) missense probably benign
R6758:Drd1 UTSW 13 54,207,308 (GRCm39) missense probably benign
R7915:Drd1 UTSW 13 54,207,834 (GRCm39) missense probably damaging 1.00
R8933:Drd1 UTSW 13 54,207,290 (GRCm39) missense possibly damaging 0.95
R9758:Drd1 UTSW 13 54,207,182 (GRCm39) missense probably damaging 1.00
X0028:Drd1 UTSW 13 54,207,812 (GRCm39) missense probably damaging 1.00
Z1177:Drd1 UTSW 13 54,206,876 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- AGTGTCTTCAGGACTTTAGTCTCC -3'
(R):5'- CAGCCTTCATCCTGATTAGCG -3'

Sequencing Primer
(F):5'- AGGACTTTAGTCTCCCTCTTAAAGG -3'
(R):5'- TCATTCCAGTGCAGCTAAGC -3'
Posted On 2018-11-28