Incidental Mutation 'R0333:Drd1'
| ID |
38349 |
| 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 |
038542-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.534)
|
| Stock # |
R0333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
54205202-54209677 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54208082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 37
(C37F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152768
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021932]
[ENSMUST00000221470]
|
| AlphaFold |
Q61616 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021932
AA Change: C44F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021932
Gene: ENSMUSG00000021478
AA Change: C44F
| 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 damaging
Transcript: ENSMUST00000221470
AA Change: C37F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222706
|
| Meta Mutation Damage Score |
0.3199 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
100% (53/53) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alas1 |
T |
C |
9: 106,118,480 (GRCm39) |
N214S |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,165,820 (GRCm39) |
|
probably benign |
Het |
| Atxn7l3 |
A |
T |
11: 102,185,818 (GRCm39) |
|
probably null |
Het |
| Cab39l |
A |
G |
14: 59,737,060 (GRCm39) |
E60G |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,704,142 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
T |
C |
5: 121,998,671 (GRCm39) |
E1423G |
probably benign |
Het |
| Dbndd1 |
G |
T |
8: 124,233,512 (GRCm39) |
Q165K |
probably damaging |
Het |
| Elp3 |
G |
A |
14: 65,828,042 (GRCm39) |
P11L |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,314,777 (GRCm39) |
Y167H |
probably damaging |
Het |
| Gimap3 |
G |
A |
6: 48,742,664 (GRCm39) |
Q89* |
probably null |
Het |
| H2ac25 |
C |
A |
11: 58,845,685 (GRCm39) |
S41* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,371,981 (GRCm39) |
|
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,007,271 (GRCm39) |
V603A |
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,624,833 (GRCm39) |
A130T |
probably damaging |
Het |
| Klhl23 |
A |
G |
2: 69,664,241 (GRCm39) |
Y530C |
probably damaging |
Het |
| Map4k1 |
C |
T |
7: 28,699,186 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,600 (GRCm39) |
L778M |
probably damaging |
Het |
| Mtdh |
T |
C |
15: 34,118,247 (GRCm39) |
S344P |
possibly damaging |
Het |
| Ncoa3 |
T |
G |
2: 165,896,211 (GRCm39) |
N371K |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,111,408 (GRCm39) |
|
probably benign |
Het |
| Nrn1l |
A |
G |
8: 106,621,052 (GRCm39) |
E48G |
probably benign |
Het |
| Nudcd1 |
A |
G |
15: 44,264,683 (GRCm39) |
I271T |
probably benign |
Het |
| Or1e17 |
A |
T |
11: 73,831,593 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,498 (GRCm38) |
L129P |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,269,371 (GRCm39) |
N653S |
probably benign |
Het |
| Plekhg1 |
A |
C |
10: 3,914,419 (GRCm39) |
K1380N |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,675,161 (GRCm39) |
I210N |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,279,077 (GRCm39) |
|
probably benign |
Het |
| Prkn |
T |
C |
17: 11,286,027 (GRCm39) |
F6L |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,337 (GRCm39) |
L1386P |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,829,685 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
T |
5: 22,134,240 (GRCm39) |
L2563I |
probably damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,200 (GRCm39) |
|
probably benign |
Het |
| Rslcan18 |
T |
C |
13: 67,246,686 (GRCm39) |
K309E |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,930 (GRCm39) |
T92M |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,585,514 (GRCm39) |
|
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,692 (GRCm39) |
A44T |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,671,048 (GRCm39) |
V732A |
possibly damaging |
Het |
| Spata2l |
A |
G |
8: 123,960,371 (GRCm39) |
F306S |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,677,491 (GRCm39) |
D2552G |
probably benign |
Het |
| Tctn3 |
A |
T |
19: 40,595,711 (GRCm39) |
L358H |
possibly damaging |
Het |
| Tk2 |
C |
T |
8: 104,975,146 (GRCm39) |
|
probably benign |
Het |
| Tm6sf2 |
C |
T |
8: 70,530,564 (GRCm39) |
R215C |
probably damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,304,555 (GRCm39) |
I204T |
probably damaging |
Het |
| Tubgcp2 |
C |
A |
7: 139,579,260 (GRCm39) |
W675C |
probably damaging |
Het |
| Usp48 |
T |
A |
4: 137,321,794 (GRCm39) |
I62N |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,601,491 (GRCm39) |
T716A |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,879,949 (GRCm39) |
T3008K |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,905,124 (GRCm39) |
|
probably benign |
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 |
|
R0661:Drd1
|
UTSW |
13 |
54,207,057 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1022:Drd1
|
UTSW |
13 |
54,207,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CACACAGAGGTTAAGGATGGATGCC -3'
(R):5'- GCTATGGAGATGCTCCTGATGGAAC -3'
Sequencing Primer
(F):5'- GCCGTGGAGCACATGATG -3'
(R):5'- CTGATGGAACACCATTGTGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation