Incidental Mutation 'IGL00423:Drd2'
| ID |
4890 |
| 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)
|
| Stock # |
IGL00423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
49251927-49319477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49307058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 48
(I48T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075764]
|
| AlphaFold |
P61168 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075764
AA Change: I48T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000075170
Gene: ENSMUSG00000032259
AA Change: I48T
| Domain | Start | End | E-Value | Type |
|---|
|
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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,747,572 (GRCm39) |
E781G |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,314,122 (GRCm39) |
T358A |
possibly damaging |
Het |
| Adamtsl2 |
C |
A |
2: 26,975,100 (GRCm39) |
T199K |
probably damaging |
Het |
| Ap4e1 |
T |
A |
2: 126,870,209 (GRCm39) |
S179T |
probably damaging |
Het |
| BC048671 |
A |
G |
6: 90,280,200 (GRCm39) |
T39A |
probably benign |
Het |
| Cfap20dc |
G |
A |
14: 8,473,370 (GRCm38) |
P600S |
possibly damaging |
Het |
| Cnr1 |
G |
A |
4: 33,944,116 (GRCm39) |
S168N |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,039,826 (GRCm39) |
V881A |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,979,145 (GRCm39) |
T151A |
probably benign |
Het |
| Gemin5 |
A |
T |
11: 58,054,643 (GRCm39) |
I253N |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,845,700 (GRCm39) |
I407K |
probably damaging |
Het |
| Ighmbp2 |
G |
T |
19: 3,318,704 (GRCm39) |
H457Q |
probably benign |
Het |
| Mboat1 |
A |
G |
13: 30,379,776 (GRCm39) |
|
probably benign |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Nucb2 |
T |
A |
7: 116,121,066 (GRCm39) |
|
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,619,923 (GRCm39) |
N383S |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,696,014 (GRCm39) |
L443P |
probably damaging |
Het |
| Prph2 |
A |
T |
17: 47,230,704 (GRCm39) |
N199I |
probably damaging |
Het |
| Rab27b |
A |
G |
18: 70,129,138 (GRCm39) |
|
probably null |
Het |
| Ranbp3 |
G |
A |
17: 57,016,238 (GRCm39) |
D336N |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,606,194 (GRCm39) |
D49G |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,645,410 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
T |
A |
12: 103,618,162 (GRCm39) |
N217I |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,252,743 (GRCm39) |
|
probably null |
Het |
| Spire1 |
A |
G |
18: 67,662,085 (GRCm39) |
V116A |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,839,896 (GRCm39) |
V652A |
possibly damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,050 (GRCm39) |
E193G |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,660 (GRCm39) |
V213D |
probably benign |
Het |
|
| Other mutations in Drd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Drd2
|
APN |
9 |
49,312,115 (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 |
2012-04-20 |
Incidental Mutation