Incidental Mutation 'R5201:Drd5'
ID |
400775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drd5
|
Ensembl Gene |
ENSMUSG00000039358 |
Gene Name |
dopamine receptor D5 |
Synonyms |
DRD1b, Drd-5, Drd1b, D5R, Gpcr1 |
MMRRC Submission |
042776-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.084)
|
Stock # |
R5201 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
38476742-38479868 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 38477366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 120
(M120L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041646]
|
AlphaFold |
Q8BLD9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041646
AA Change: M120L
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000039691 Gene: ENSMUSG00000039358 AA Change: M120L
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
Taf3 |
A |
G |
2: 9,956,995 (GRCm39) |
S391P |
probably damaging |
Het |
Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCGTCTGGACCTTGCTCG -3'
(R):5'- CCTTGTCTCTGTGCCAATTGAG -3'
Sequencing Primer
(F):5'- CAACGTCCTAGTGTGTGCTGC -3'
(R):5'- TTGAGTTGGACCGGGATAAAG -3'
|
Posted On |
2016-07-06 |