Incidental Mutation 'R0051:Drd5'
| ID |
16103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drd5
|
| Ensembl Gene |
ENSMUSG00000039358 |
| Gene Name |
dopamine receptor D5 |
| Synonyms |
DRD1b, Drd-5, Drd1b, D5R, Gpcr1 |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
38476742-38479868 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38477957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 317
(S317G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041646]
|
| AlphaFold |
Q8BLD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041646
AA Change: S317G
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039691
Gene: ENSMUSG00000039358
AA Change: S317G
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 88.8%
- 3x: 85.7%
- 10x: 76.8%
- 20x: 60.8%
|
| Validation Efficiency |
84% (69/82) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6330444E15Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,814,854 (GRCm39) |
R403L |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrpl4 |
C |
A |
9: 20,918,964 (GRCm39) |
T203K |
probably damaging |
Het |
| Mtrf1l |
T |
C |
10: 5,763,382 (GRCm39) |
K316E |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,349,422 (GRCm39) |
N2361K |
probably benign |
Het |
| Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,898 (GRCm39) |
|
probably null |
Het |
| Rab37 |
T |
C |
11: 115,049,491 (GRCm39) |
L100P |
probably damaging |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,397 (GRCm39) |
L184P |
probably damaging |
Het |
| Tbx10 |
T |
C |
19: 4,046,798 (GRCm39) |
|
probably null |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,865 (GRCm39) |
V53A |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
|
| Other mutations in Drd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03153:Drd5
|
APN |
5 |
38,477,124 (GRCm39) |
missense |
probably benign |
0.25 |
|
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 |
|
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 |
2013-01-08 |
Incidental Mutation