Incidental Mutation 'IGL01542:Drd4'
| ID |
90202 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Drd4
|
| Ensembl Gene |
ENSMUSG00000025496 |
| Gene Name |
dopamine receptor D4 |
| Synonyms |
Drd-4, D4R |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL01542
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
140871931-140874868 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 140873744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026569]
[ENSMUST00000080553]
[ENSMUST00000211146]
|
| AlphaFold |
P51436 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026569
|
| SMART Domains |
Protein: ENSMUSP00000026569
Gene: ENSMUSG00000025496
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| 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 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
| Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
| Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
| Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
| Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
| D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
| Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
| Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
| Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
| Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
| Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
| Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
| Sdhb |
T |
C |
4: 140,700,278 (GRCm39) |
V126A |
probably benign |
Het |
| Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
| Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
| Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
| Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
| Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
| Other mutations in Drd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Drd4
|
APN |
7 |
140,872,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Drd4
|
UTSW |
7 |
140,873,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Drd4
|
UTSW |
7 |
140,874,649 (GRCm39) |
missense |
probably benign |
|
|
R3054:Drd4
|
UTSW |
7 |
140,874,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2013-12-03 |
Incidental Mutation