Incidental Mutation 'R0166:Drd1'
ID 24197
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 038442-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.534) question?
Stock # R0166 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 13
Chromosomal Location 54205202-54209677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54207600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 205 (I205F)
Ref Sequence ENSEMBL: ENSMUSP00000021932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021932] [ENSMUST00000221470]
AlphaFold Q61616
Predicted Effect probably damaging
Transcript: ENSMUST00000021932
AA Change: I205F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021932
Gene: ENSMUSG00000021478
AA Change: I205F

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: I198F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222706
Meta Mutation Damage Score 0.7975 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 91% (49/54)
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
Abcb1b T C 5: 8,903,468 (GRCm39) F1040L probably damaging Het
Adamts7 A G 9: 90,075,745 (GRCm39) N1201S probably benign Het
Ahnak C T 19: 8,983,089 (GRCm39) P1458S probably damaging Het
Akap6 T C 12: 53,187,707 (GRCm39) V1707A probably benign Het
Akr1c21 T A 13: 4,631,263 (GRCm39) V266E probably damaging Het
Arap2 A C 5: 62,833,361 (GRCm39) C894G probably damaging Het
Atp2a2 T C 5: 122,604,901 (GRCm39) D426G possibly damaging Het
Azi2 A T 9: 117,884,909 (GRCm39) Q132L possibly damaging Het
Carmil1 C T 13: 24,283,032 (GRCm39) D91N probably damaging Het
Cnot7 A T 8: 40,960,494 (GRCm39) probably null Het
Cntnap5b A G 1: 100,202,086 (GRCm39) E311G probably benign Het
Csmd1 A G 8: 16,283,036 (GRCm39) V640A probably benign Het
Cst7 T C 2: 150,417,647 (GRCm39) S31P probably benign Het
Cyp7b1 T A 3: 18,151,530 (GRCm39) I228L probably benign Het
Ddx28 G A 8: 106,736,921 (GRCm39) T379I probably benign Het
Flnb T A 14: 7,896,115 (GRCm38) V837D probably damaging Het
Fsd1l A G 4: 53,647,664 (GRCm39) probably null Het
Fubp1 T A 3: 151,925,841 (GRCm39) Y264* probably null Het
Gbp5 T A 3: 142,212,680 (GRCm39) probably null Het
Gm7094 A G 1: 21,342,958 (GRCm39) noncoding transcript Het
Gpr55 A G 1: 85,868,858 (GRCm39) V241A probably benign Het
Impa1 C T 3: 10,394,020 (GRCm39) A16T probably damaging Het
Llgl2 T C 11: 115,735,680 (GRCm39) L92P probably damaging Het
Ltbp2 T A 12: 84,833,132 (GRCm39) Q1472L probably benign Het
Lyplal1 A T 1: 185,820,943 (GRCm39) M168K probably benign Het
Macc1 A T 12: 119,410,815 (GRCm39) R528* probably null Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrpl23 C T 7: 142,088,851 (GRCm39) R69W probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nr0b2 A G 4: 133,281,049 (GRCm39) Q105R probably damaging Het
Or8b53 T A 9: 38,667,484 (GRCm39) S167T probably benign Het
Otog G A 7: 45,953,655 (GRCm39) V2638M probably damaging Het
Pcdhb14 A T 18: 37,581,542 (GRCm39) probably null Het
Plxna1 A G 6: 89,310,001 (GRCm39) W1055R probably damaging Het
Pramel22 T A 4: 143,381,081 (GRCm39) H314L probably benign Het
Prdm1 C T 10: 44,316,087 (GRCm39) R716Q probably damaging Het
Proser1 C A 3: 53,388,038 (GRCm39) Q909K possibly damaging Het
Pus10 T A 11: 23,617,358 (GRCm39) C24S probably damaging Het
Rpl27 T A 11: 101,336,146 (GRCm39) F69I possibly damaging Het
Sctr A T 1: 119,983,124 (GRCm39) I325F probably damaging Het
Slc49a4 G A 16: 35,539,684 (GRCm39) T379I possibly damaging Het
Slc5a3 G A 16: 91,874,581 (GRCm39) V213I possibly damaging Het
Spib G T 7: 44,179,324 (GRCm39) D28E probably damaging Het
Spic T C 10: 88,511,579 (GRCm39) S226G possibly damaging Het
Tet1 T A 10: 62,676,058 (GRCm39) T673S probably benign Het
Tph1 A G 7: 46,297,020 (GRCm39) F392L probably damaging Het
Ttc28 T C 5: 111,373,500 (GRCm39) S979P probably benign Het
Unc79 T C 12: 103,122,812 (GRCm39) L2110P probably damaging Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Zfp467 T C 6: 48,415,615 (GRCm39) T346A probably benign 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
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
R6966:Drd1 UTSW 13 54,207,564 (GRCm39) missense probably damaging 1.00
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'- AGCATTCGACAGGGTTTCCATTACC -3'
(R):5'- ACATCATGTGCTCCACGGCATC -3'

Sequencing Primer
(F):5'- ATTACCTGTGGTGGTCTGGC -3'
(R):5'- AACCTCTGTGTGATCAGCG -3'
Posted On 2013-04-16