Incidental Mutation 'IGL01407:Drd2'
ID 79842
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drd2
Ensembl Gene ENSMUSG00000032259
Gene Name dopamine receptor D2
Synonyms D2R, D2 receptor, Drd-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.452) question?
Stock # IGL01407
Quality Score
Status
Chromosome 9
Chromosomal Location 49251927-49319477 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49312115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 156 (I156T)
Ref Sequence ENSEMBL: ENSMUSP00000075170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075764]
AlphaFold P61168
Predicted Effect probably damaging
Transcript: ENSMUST00000075764
AA Change: I156T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: I156T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 45 238 2.5e-15 PFAM
Pfam:7tm_1 51 427 1.2e-88 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice show Parkinson's disease like symptoms, including akinetic and bradykinetic behavior. Mice lacking only the long isoform are hypoactive and exhibit increased sterotypic behavior in response to dopamine agonists. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,076,288 (GRCm39) D1140V probably damaging Het
Ak1 G T 2: 32,523,507 (GRCm39) probably benign Het
Ano1 A T 7: 144,190,848 (GRCm39) L411H probably benign Het
Atad2 A T 15: 57,967,921 (GRCm39) N569K probably benign Het
Bst2 C A 8: 71,989,830 (GRCm39) R81L probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Chrna5 C T 9: 54,911,683 (GRCm39) T57M possibly damaging Het
Cp A T 3: 20,031,369 (GRCm39) D602V possibly damaging Het
Elp4 G A 2: 105,622,653 (GRCm39) R349W probably damaging Het
Eml6 G A 11: 29,705,021 (GRCm39) R1508* probably null Het
Etl4 T C 2: 20,748,667 (GRCm39) L335S probably damaging Het
Fat3 A T 9: 16,289,319 (GRCm39) I68K probably benign Het
Fyco1 G T 9: 123,657,944 (GRCm39) A744D probably damaging Het
Gm22165 G T 3: 64,012,886 (GRCm39) probably benign Het
Gse1 T C 8: 121,280,326 (GRCm39) M1T probably null Het
Hs3st5 A T 10: 36,709,404 (GRCm39) H313L probably damaging Het
Hsd17b3 T C 13: 64,210,719 (GRCm39) Y212C probably damaging Het
Hyal5 G T 6: 24,876,406 (GRCm39) S93I probably benign Het
Itgb1 T C 8: 129,449,315 (GRCm39) V578A probably benign Het
Klf12 A T 14: 100,347,294 (GRCm39) N12K possibly damaging Het
Krt40 C T 11: 99,432,045 (GRCm39) C222Y probably damaging Het
Lrrn2 T C 1: 132,864,965 (GRCm39) L10P probably damaging Het
Lrsam1 T C 2: 32,837,915 (GRCm39) Y213C probably damaging Het
Mitf C A 6: 97,994,892 (GRCm39) T277K possibly damaging Het
Ncan C T 8: 70,554,607 (GRCm39) R1070H probably benign Het
Nr4a3 A G 4: 48,083,201 (GRCm39) E578G probably benign Het
Patj A G 4: 98,301,287 (GRCm39) T191A possibly damaging Het
Pign A G 1: 105,517,027 (GRCm39) V533A probably benign Het
Smad5 G A 13: 56,883,630 (GRCm39) V339I probably benign Het
Spem2 T A 11: 69,708,065 (GRCm39) Y300F possibly damaging Het
Trank1 T G 9: 111,193,790 (GRCm39) S605A probably damaging Het
Treml4 T A 17: 48,571,877 (GRCm39) D93E possibly damaging Het
Tsc22d2 T A 3: 58,323,924 (GRCm39) V272E probably damaging Het
Vmn2r19 T A 6: 123,306,826 (GRCm39) F445I possibly damaging Het
Zfp712 T A 13: 67,190,230 (GRCm39) Q99L possibly damaging Het
Zfp719 A T 7: 43,233,611 (GRCm39) K10I probably benign Het
Other mutations in Drd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Drd2 APN 9 49,307,058 (GRCm39) missense probably damaging 1.00
IGL01669:Drd2 APN 9 49,313,389 (GRCm39) missense possibly damaging 0.90
IGL02011:Drd2 APN 9 49,318,258 (GRCm39) missense probably damaging 1.00
IGL02417:Drd2 APN 9 49,313,559 (GRCm39) splice site probably benign
R0374:Drd2 UTSW 9 49,311,084 (GRCm39) missense probably benign 0.41
R0402:Drd2 UTSW 9 49,316,271 (GRCm39) missense probably benign 0.00
R0529:Drd2 UTSW 9 49,318,374 (GRCm39) missense probably benign
R1124:Drd2 UTSW 9 49,306,940 (GRCm39) missense probably damaging 0.98
R1458:Drd2 UTSW 9 49,313,512 (GRCm39) missense probably damaging 1.00
R1807:Drd2 UTSW 9 49,316,367 (GRCm39) missense probably damaging 1.00
R1888:Drd2 UTSW 9 49,313,442 (GRCm39) missense probably benign 0.05
R1888:Drd2 UTSW 9 49,313,442 (GRCm39) missense probably benign 0.05
R1971:Drd2 UTSW 9 49,318,359 (GRCm39) missense probably damaging 1.00
R2192:Drd2 UTSW 9 49,314,571 (GRCm39) missense probably benign 0.03
R2218:Drd2 UTSW 9 49,311,094 (GRCm39) missense probably damaging 1.00
R3830:Drd2 UTSW 9 49,313,443 (GRCm39) missense probably damaging 0.99
R4214:Drd2 UTSW 9 49,316,221 (GRCm39) missense probably benign 0.00
R4595:Drd2 UTSW 9 49,316,089 (GRCm39) missense probably benign 0.03
R5392:Drd2 UTSW 9 49,306,928 (GRCm39) missense possibly damaging 0.80
R5415:Drd2 UTSW 9 49,313,553 (GRCm39) missense possibly damaging 0.81
R5598:Drd2 UTSW 9 49,318,315 (GRCm39) missense possibly damaging 0.94
R5646:Drd2 UTSW 9 49,316,212 (GRCm39) missense probably benign
R5715:Drd2 UTSW 9 49,316,189 (GRCm39) missense probably benign 0.00
R5901:Drd2 UTSW 9 49,318,259 (GRCm39) nonsense probably null
R6365:Drd2 UTSW 9 49,318,249 (GRCm39) missense probably damaging 1.00
R6748:Drd2 UTSW 9 49,314,502 (GRCm39) nonsense probably null
R7017:Drd2 UTSW 9 49,312,129 (GRCm39) missense probably benign 0.32
R7754:Drd2 UTSW 9 49,316,277 (GRCm39) missense probably benign
R9092:Drd2 UTSW 9 49,307,004 (GRCm39) missense probably benign
R9444:Drd2 UTSW 9 49,318,347 (GRCm39) missense probably damaging 1.00
R9488:Drd2 UTSW 9 49,311,094 (GRCm39) missense probably damaging 1.00
X0022:Drd2 UTSW 9 49,312,081 (GRCm39) missense probably damaging 1.00
Z1176:Drd2 UTSW 9 49,306,955 (GRCm39) nonsense probably null
Posted On 2013-11-05