Incidental Mutation 'IGL03153:Drd5'
ID |
411172 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Drd5
|
Ensembl Gene |
ENSMUSG00000039358 |
Gene Name |
dopamine receptor D5 |
Synonyms |
DRD1b, Drd-5, Drd1b, D5R, Gpcr1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
IGL03153
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38476742-38479868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38477124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 39
(V39A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041646]
|
AlphaFold |
Q8BLD9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041646
AA Change: V39A
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000039691 Gene: ENSMUSG00000039358 AA Change: V39A
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
Pfam:7TM_GPCR_Srx
|
47 |
177 |
5.5e-7 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
49 |
179 |
1e-7 |
PFAM |
Pfam:7tm_1
|
55 |
354 |
1.5e-74 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
210 |
368 |
2.4e-6 |
PFAM |
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181240
|
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 D5 subtype of the dopamine receptor. The D5 subtype is a G-protein coupled receptor which stimulates adenylyl cyclase. This receptor is expressed in neurons in the limbic regions of the brain. It has a 10-fold higher affinity for dopamine than the D1 subtype. Pseudogenes related to this gene reside on chromosomes 1 and 2. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mice develop hypertension and exhibit elevated blood pressure caused by increased sympathetic tone. Mice homozygous for another knock-out allele exhibit increased methamphetamine-induced ambulatory activity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
A |
G |
4: 62,465,563 (GRCm39) |
E419G |
possibly damaging |
Het |
Abcg3 |
A |
G |
5: 105,122,631 (GRCm39) |
|
probably benign |
Het |
Adam17 |
T |
C |
12: 21,395,698 (GRCm39) |
D256G |
probably damaging |
Het |
Adgrb3 |
G |
A |
1: 25,570,978 (GRCm39) |
R500* |
probably null |
Het |
Aldh3a2 |
A |
G |
11: 61,149,665 (GRCm39) |
Y234H |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,143 (GRCm39) |
T987A |
probably benign |
Het |
Amtn |
A |
G |
5: 88,532,828 (GRCm39) |
K148E |
possibly damaging |
Het |
Asap1 |
G |
A |
15: 64,032,123 (GRCm39) |
T237M |
probably damaging |
Het |
Ccdc124 |
A |
T |
8: 71,321,573 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
C |
9: 35,389,255 (GRCm39) |
Y787H |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,269,516 (GRCm39) |
D188G |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,453,246 (GRCm39) |
|
probably null |
Het |
Dram2 |
T |
A |
3: 106,462,490 (GRCm39) |
|
probably benign |
Het |
Ern1 |
A |
G |
11: 106,300,924 (GRCm39) |
L490P |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,483,160 (GRCm39) |
T3083A |
possibly damaging |
Het |
Irgm1 |
A |
G |
11: 48,757,094 (GRCm39) |
I239T |
probably damaging |
Het |
Klhl10 |
A |
T |
11: 100,347,758 (GRCm39) |
T605S |
probably benign |
Het |
Lcor |
T |
A |
19: 41,546,795 (GRCm39) |
S126R |
probably damaging |
Het |
Lgi4 |
G |
T |
7: 30,759,983 (GRCm39) |
V60F |
probably damaging |
Het |
Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
Lmf1 |
A |
G |
17: 25,804,624 (GRCm39) |
S97G |
possibly damaging |
Het |
Oasl2 |
A |
G |
5: 115,039,393 (GRCm39) |
T194A |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,566 (GRCm39) |
S137P |
probably benign |
Het |
Pnpo |
A |
T |
11: 96,834,661 (GRCm39) |
F12I |
probably damaging |
Het |
Prdm4 |
T |
C |
10: 85,743,860 (GRCm39) |
T132A |
probably benign |
Het |
Ptbp2 |
T |
C |
3: 119,545,593 (GRCm39) |
T118A |
probably benign |
Het |
Ptf1a |
T |
A |
2: 19,451,456 (GRCm39) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,682,874 (GRCm39) |
F331I |
probably damaging |
Het |
Rfx6 |
C |
A |
10: 51,599,217 (GRCm39) |
S524* |
probably null |
Het |
Scube3 |
A |
G |
17: 28,386,032 (GRCm39) |
S758G |
possibly damaging |
Het |
Slc44a2 |
T |
C |
9: 21,254,496 (GRCm39) |
I257T |
probably benign |
Het |
Spon1 |
A |
T |
7: 113,629,579 (GRCm39) |
I408F |
probably damaging |
Het |
Srpk1 |
C |
A |
17: 28,811,240 (GRCm39) |
D541Y |
possibly damaging |
Het |
Tenm4 |
A |
T |
7: 96,522,969 (GRCm39) |
I1467F |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,241,899 (GRCm39) |
V345G |
possibly damaging |
Het |
Vmn1r23 |
A |
T |
6: 57,902,917 (GRCm39) |
I287K |
probably damaging |
Het |
Whamm |
A |
G |
7: 81,239,280 (GRCm39) |
|
probably benign |
Het |
Zeb1 |
A |
G |
18: 5,770,511 (GRCm39) |
D888G |
probably damaging |
Het |
Zfp263 |
A |
G |
16: 3,564,744 (GRCm39) |
N253S |
possibly damaging |
Het |
Zfp446 |
C |
A |
7: 12,711,834 (GRCm39) |
A19E |
probably benign |
Het |
|
Other mutations in Drd5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
PIT4305001:Drd5
|
UTSW |
5 |
38,477,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R0051:Drd5
|
UTSW |
5 |
38,477,957 (GRCm39) |
missense |
probably benign |
0.39 |
R0051:Drd5
|
UTSW |
5 |
38,477,957 (GRCm39) |
missense |
probably benign |
0.39 |
R0571:Drd5
|
UTSW |
5 |
38,477,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Drd5
|
UTSW |
5 |
38,478,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R1663:Drd5
|
UTSW |
5 |
38,478,198 (GRCm39) |
missense |
probably benign |
0.02 |
R1777:Drd5
|
UTSW |
5 |
38,477,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R1932:Drd5
|
UTSW |
5 |
38,477,319 (GRCm39) |
missense |
probably benign |
0.14 |
R1986:Drd5
|
UTSW |
5 |
38,477,456 (GRCm39) |
missense |
probably damaging |
0.99 |
R2047:Drd5
|
UTSW |
5 |
38,477,679 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Drd5
|
UTSW |
5 |
38,477,157 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5033:Drd5
|
UTSW |
5 |
38,477,544 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Drd5
|
UTSW |
5 |
38,477,366 (GRCm39) |
missense |
probably damaging |
0.96 |
R5255:Drd5
|
UTSW |
5 |
38,477,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5393:Drd5
|
UTSW |
5 |
38,478,248 (GRCm39) |
missense |
probably benign |
|
R5639:Drd5
|
UTSW |
5 |
38,477,178 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7241:Drd5
|
UTSW |
5 |
38,477,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R7520:Drd5
|
UTSW |
5 |
38,478,195 (GRCm39) |
missense |
probably benign |
0.00 |
R7739:Drd5
|
UTSW |
5 |
38,477,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R8300:Drd5
|
UTSW |
5 |
38,477,672 (GRCm39) |
missense |
probably damaging |
0.99 |
R8746:Drd5
|
UTSW |
5 |
38,477,433 (GRCm39) |
missense |
probably benign |
0.04 |
R8829:Drd5
|
UTSW |
5 |
38,477,078 (GRCm39) |
missense |
probably benign |
0.08 |
R8832:Drd5
|
UTSW |
5 |
38,477,078 (GRCm39) |
missense |
probably benign |
0.08 |
R8870:Drd5
|
UTSW |
5 |
38,477,747 (GRCm39) |
missense |
possibly damaging |
0.76 |
R9600:Drd5
|
UTSW |
5 |
38,478,174 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9705:Drd5
|
UTSW |
5 |
38,478,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R9717:Drd5
|
UTSW |
5 |
38,478,090 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Drd5
|
UTSW |
5 |
38,477,729 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Posted On |
2016-08-02 |