Incidental Mutation 'R3109:Drd4'
ID |
263701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drd4
|
Ensembl Gene |
ENSMUSG00000025496 |
Gene Name |
dopamine receptor D4 |
Synonyms |
Drd-4, D4R |
MMRRC Submission |
040583-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.067)
|
Stock # |
R3109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
140871931-140874868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 140872195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 82
(V82E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026569]
[ENSMUST00000080553]
|
AlphaFold |
P51436 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026569
AA Change: V82E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026569 Gene: ENSMUSG00000025496 AA Change: V82E
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (33/33) |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
A |
G |
2: 152,284,376 (GRCm39) |
E323G |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,243,785 (GRCm39) |
|
probably benign |
Het |
Alkbh3 |
T |
C |
2: 93,835,108 (GRCm39) |
E80G |
probably damaging |
Het |
Amfr |
T |
C |
8: 94,726,934 (GRCm39) |
Y93C |
probably damaging |
Het |
Arid2 |
T |
C |
15: 96,254,627 (GRCm39) |
Y158H |
probably damaging |
Het |
Camk1g |
T |
C |
1: 193,037,301 (GRCm39) |
Y133C |
probably damaging |
Het |
Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,969,654 (GRCm39) |
|
probably benign |
Het |
Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,925,586 (GRCm39) |
D56G |
probably benign |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Klhdc4 |
A |
C |
8: 122,548,073 (GRCm39) |
H72Q |
probably damaging |
Het |
Kmt2c |
A |
G |
5: 25,480,733 (GRCm39) |
Y1459H |
probably damaging |
Het |
Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Per2 |
A |
T |
1: 91,373,297 (GRCm39) |
C164S |
probably benign |
Het |
Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
Rbl2 |
T |
A |
8: 91,828,863 (GRCm39) |
I588N |
probably benign |
Het |
Rslcan18 |
C |
T |
13: 67,246,671 (GRCm39) |
E314K |
possibly damaging |
Het |
Ubr3 |
A |
T |
2: 69,819,184 (GRCm39) |
T1325S |
probably damaging |
Het |
Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
Vmn1r175 |
A |
G |
7: 23,508,393 (GRCm39) |
V78A |
probably benign |
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 |
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 |
|
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 |
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'- GTTCAGCAGTGGCACCATGG -3'
(R):5'- TGGGTAGGTAGCTCTCAGAC -3'
Sequencing Primer
(F):5'- CAGTGGCACCATGGGGAAC -3'
(R):5'- CTCTCAGACAGAGTAGGAAGGAATCC -3'
|
Posted On |
2015-02-05 |