Incidental Mutation 'R1022:Drd1'
| ID |
98800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drd1
|
| Ensembl Gene |
ENSMUSG00000021478 |
| Gene Name |
dopamine receptor D1 |
| Synonyms |
Gpcr15, Drd1a, D1 receptor, C030036C15Rik, Drd-1 |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
54205202-54209677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54207333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 294
(M294L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021932]
[ENSMUST00000221470]
|
| AlphaFold |
Q61616 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021932
AA Change: M294L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021932
Gene: ENSMUSG00000021478
AA Change: M294L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
33 |
244 |
7.9e-10 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
345 |
7e-11 |
PFAM |
|
Pfam:7tm_1
|
39 |
331 |
6.5e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221470
AA Change: M287L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222706
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D1 subtype of the dopamine receptor. The D1 subtype is the most abundant dopamine receptor in the central nervous system. This G-protein coupled receptor stimulates adenylyl cyclase and activates cyclic AMP-dependent protein kinases. D1 receptors regulate neuronal growth and development, mediate some behavioral responses, and modulate dopamine receptor D2-mediated events. Alternate transcription initiation sites result in two transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations show variably abnormalities that may include growth retardation, death after weaning unless given hydrated food, nonresponsiveness to dopamine D1 receptor agonists and antagonists, and normal to hyperactive locomotor activity. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, knock-out(3) Targeted, other(4)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
Het |
|
| Other mutations in Drd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Drd1
|
APN |
13 |
54,207,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00231:Drd1
|
APN |
13 |
54,207,486 (GRCm39) |
missense |
probably benign |
|
|
1mM(1):Drd1
|
UTSW |
13 |
54,207,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Drd1
|
UTSW |
13 |
54,207,122 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0166:Drd1
|
UTSW |
13 |
54,207,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0333:Drd1
|
UTSW |
13 |
54,208,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0661:Drd1
|
UTSW |
13 |
54,207,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1024:Drd1
|
UTSW |
13 |
54,207,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1397:Drd1
|
UTSW |
13 |
54,207,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Drd1
|
UTSW |
13 |
54,206,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1907:Drd1
|
UTSW |
13 |
54,207,271 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2128:Drd1
|
UTSW |
13 |
54,207,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Drd1
|
UTSW |
13 |
54,207,186 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5592:Drd1
|
UTSW |
13 |
54,208,190 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R5867:Drd1
|
UTSW |
13 |
54,208,182 (GRCm39) |
missense |
probably benign |
|
|
R6758:Drd1
|
UTSW |
13 |
54,207,308 (GRCm39) |
missense |
probably benign |
|
|
R6966:Drd1
|
UTSW |
13 |
54,207,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Drd1
|
UTSW |
13 |
54,207,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Drd1
|
UTSW |
13 |
54,207,290 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9758:Drd1
|
UTSW |
13 |
54,207,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Drd1
|
UTSW |
13 |
54,207,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Drd1
|
UTSW |
13 |
54,206,876 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCCGTTGTTGTTGATGCTTAC -3'
(R):5'- AGTCCATGCCAAGAACTGCCAG -3'
Sequencing Primer
(F):5'- TGATGCTTACAGTCTCTATGGC -3'
(R):5'- CAGACCACCACAGGTAATGG -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation