Incidental Mutation 'R3124:Drd3'
| ID |
264213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drd3
|
| Ensembl Gene |
ENSMUSG00000022705 |
| Gene Name |
dopamine receptor D3 |
| Synonyms |
D3 receptor, D3R |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
140 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
43574389-43643295 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43643155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 464
(F464L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023390]
[ENSMUST00000229953]
|
| AlphaFold |
P30728 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023390
AA Change: F432L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023390
Gene: ENSMUSG00000022705
AA Change: F432L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
40 |
234 |
4.5e-9 |
PFAM |
|
Pfam:7tm_1
|
46 |
429 |
5.9e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229953
AA Change: F464L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5763 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants show exploratory hyperactivity and increased locomotion and rearing behavior, with heterozygous mice displaying similar, but less pronounced, behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Drd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Drd3
|
APN |
16 |
43,582,684 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01715:Drd3
|
APN |
16 |
43,641,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01944:Drd3
|
APN |
16 |
43,638,671 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02212:Drd3
|
APN |
16 |
43,582,675 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02666:Drd3
|
APN |
16 |
43,637,319 (GRCm39) |
splice site |
probably benign |
|
|
R0529:Drd3
|
UTSW |
16 |
43,643,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Drd3
|
UTSW |
16 |
43,582,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1310:Drd3
|
UTSW |
16 |
43,641,892 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1548:Drd3
|
UTSW |
16 |
43,641,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3753:Drd3
|
UTSW |
16 |
43,637,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4363:Drd3
|
UTSW |
16 |
43,582,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Drd3
|
UTSW |
16 |
43,643,164 (GRCm39) |
nonsense |
probably null |
|
|
R4725:Drd3
|
UTSW |
16 |
43,643,164 (GRCm39) |
nonsense |
probably null |
|
|
R4726:Drd3
|
UTSW |
16 |
43,643,164 (GRCm39) |
nonsense |
probably null |
|
|
R5016:Drd3
|
UTSW |
16 |
43,582,609 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5850:Drd3
|
UTSW |
16 |
43,638,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6052:Drd3
|
UTSW |
16 |
43,641,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6377:Drd3
|
UTSW |
16 |
43,641,670 (GRCm39) |
nonsense |
probably null |
|
|
R6888:Drd3
|
UTSW |
16 |
43,637,502 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6928:Drd3
|
UTSW |
16 |
43,641,683 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7031:Drd3
|
UTSW |
16 |
43,582,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7089:Drd3
|
UTSW |
16 |
43,627,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Drd3
|
UTSW |
16 |
43,637,426 (GRCm39) |
nonsense |
probably null |
|
|
R7567:Drd3
|
UTSW |
16 |
43,643,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7575:Drd3
|
UTSW |
16 |
43,637,496 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7772:Drd3
|
UTSW |
16 |
43,582,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8694:Drd3
|
UTSW |
16 |
43,643,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Drd3
|
UTSW |
16 |
43,641,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9536:Drd3
|
UTSW |
16 |
43,637,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9632:Drd3
|
UTSW |
16 |
43,643,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTTTGCAACCCAGGGG -3'
(R):5'- AGCTGGGGAGGTAGTATATCTC -3'
Sequencing Primer
(F):5'- AACCCAGGGGCCTTCATTGTC -3'
(R):5'- CTCTATCGTGGAGTAAACAGCTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation