Incidental Mutation 'R3054:Drd4'
ID 265075
Institutional Source Beutler Lab
Gene Symbol Drd4
Ensembl Gene ENSMUSG00000025496
Gene Name dopamine receptor D4
Synonyms Drd-4, D4R
MMRRC Submission 040563-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3054 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140871931-140874868 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140874392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 319 (V319A)
Ref Sequence ENSEMBL: ENSMUSP00000026569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026569] [ENSMUST00000080553] [ENSMUST00000211146]
AlphaFold P51436
Predicted Effect probably damaging
Transcript: ENSMUST00000026569
AA Change: V319A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026569
Gene: ENSMUSG00000025496
AA Change: V319A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 40 182 9.6e-9 PFAM
Pfam:7tm_1 48 368 1.8e-71 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080553
SMART Domains Protein: ENSMUSP00000079395
Gene: ENSMUSG00000058886

DomainStartEndE-ValueType
SCOP:d1gkub1 6 35 9e-3 SMART
low complexity region 43 68 N/A INTRINSIC
low complexity region 88 105 N/A INTRINSIC
low complexity region 167 186 N/A INTRINSIC
SAND 202 274 9.78e-40 SMART
low complexity region 277 286 N/A INTRINSIC
low complexity region 324 338 N/A INTRINSIC
Pfam:zf-MYND 505 541 8.9e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209649
Predicted Effect probably benign
Transcript: ENSMUST00000210062
Predicted Effect probably benign
Transcript: ENSMUST00000211146
Meta Mutation Damage Score 0.1870 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are less active in open field tests and have reduced responses to novelty. However, mice exhibit locomotor supersensitivity to ethanol, cocaine, and methamphetamine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,108 (GRCm39) probably benign Het
Aldh1l2 T C 10: 83,338,336 (GRCm39) K528E probably benign Het
Als2 A G 1: 59,254,653 (GRCm39) C235R probably damaging Het
Armc6 C A 8: 70,677,799 (GRCm39) V177L probably benign Het
Asb7 A T 7: 66,328,959 (GRCm39) V27D probably damaging Het
Bard1 A G 1: 71,127,390 (GRCm39) V73A possibly damaging Het
Ccdc150 A G 1: 54,328,001 (GRCm39) N361S possibly damaging Het
Cntn5 A G 9: 10,419,076 (GRCm39) L7P probably benign Het
Cst3 A G 2: 148,713,951 (GRCm39) S118P probably damaging Het
Cyp2a22 T C 7: 26,638,254 (GRCm39) D84G probably damaging Het
Ddo A G 10: 40,507,738 (GRCm39) N45S probably benign Het
Fat3 C T 9: 15,871,792 (GRCm39) R3533H probably benign Het
Fras1 A T 5: 96,912,802 (GRCm39) I3369F probably damaging Het
Gm5591 T C 7: 38,220,058 (GRCm39) S272G probably benign Het
Gm8444 A T 15: 81,727,845 (GRCm39) probably benign Het
Gm9776 A G 13: 94,495,158 (GRCm39) probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Larp1b A T 3: 40,918,535 (GRCm39) I59F probably benign Het
Ltn1 C T 16: 87,200,961 (GRCm39) A1092T probably benign Het
Map1b A G 13: 99,569,250 (GRCm39) V1157A unknown Het
Mboat1 A T 13: 30,379,724 (GRCm39) M92L probably benign Het
Meis3 G T 7: 15,916,378 (GRCm39) L284F probably damaging Het
Muc20 T C 16: 32,599,403 (GRCm39) F3317L probably benign Het
Muc5b G T 7: 141,417,778 (GRCm39) V3575F probably damaging Het
Polr1e C T 4: 45,018,724 (GRCm39) T18I possibly damaging Het
Ppp4r1 G T 17: 66,143,074 (GRCm39) A764S probably damaging Het
Psg29 A G 7: 16,942,727 (GRCm39) T243A probably benign Het
Ptprn2 T C 12: 116,685,753 (GRCm39) Y71H probably damaging Het
Radx T A X: 138,412,306 (GRCm39) V439E possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sh3bp1 C T 15: 78,795,622 (GRCm39) P584S probably benign Het
Slc4a4 T C 5: 89,373,807 (GRCm39) V971A probably damaging Het
Stil T A 4: 114,862,163 (GRCm39) H35Q probably damaging Het
Strn A T 17: 78,990,321 (GRCm39) V65D probably damaging Het
Sumf1 T C 6: 108,130,165 (GRCm39) N185D probably benign Het
Timm29 T C 9: 21,504,887 (GRCm39) M185T probably damaging Het
Tjp3 T C 10: 81,116,341 (GRCm39) K251R probably benign Het
Tubgcp6 A T 15: 89,006,806 (GRCm39) M72K probably damaging Het
Utp14b T A 1: 78,642,442 (GRCm39) D113E possibly damaging Het
Vps13b A G 15: 35,646,507 (GRCm39) E1537G probably damaging Het
Zfr A G 15: 12,154,593 (GRCm39) N592S probably damaging Het
Other mutations in Drd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Drd4 APN 7 140,872,096 (GRCm39) missense probably damaging 1.00
IGL01542:Drd4 APN 7 140,873,744 (GRCm39) unclassified probably benign
R2314:Drd4 UTSW 7 140,873,854 (GRCm39) missense probably damaging 1.00
R2484:Drd4 UTSW 7 140,874,649 (GRCm39) missense probably benign
R3055:Drd4 UTSW 7 140,874,392 (GRCm39) missense probably damaging 0.99
R3108:Drd4 UTSW 7 140,872,195 (GRCm39) missense possibly damaging 0.95
R3109:Drd4 UTSW 7 140,872,195 (GRCm39) missense possibly damaging 0.95
R4597:Drd4 UTSW 7 140,874,392 (GRCm39) missense probably damaging 0.99
R4964:Drd4 UTSW 7 140,873,690 (GRCm39) missense probably damaging 1.00
R4966:Drd4 UTSW 7 140,873,690 (GRCm39) missense probably damaging 1.00
R5474:Drd4 UTSW 7 140,873,641 (GRCm39) missense probably damaging 1.00
R6010:Drd4 UTSW 7 140,874,709 (GRCm39) missense probably damaging 1.00
R6480:Drd4 UTSW 7 140,874,706 (GRCm39) missense possibly damaging 0.71
R7206:Drd4 UTSW 7 140,872,032 (GRCm39) missense probably damaging 0.98
R9445:Drd4 UTSW 7 140,872,162 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTATGTGGTCTACTCGTCCG -3'
(R):5'- TGTGCACCACGAAGAAAGGC -3'

Sequencing Primer
(F):5'- ATGCTACTGCTTTACTGGGC -3'
(R):5'- GGCGTCCAACACACCAGG -3'
Posted On 2015-02-05