Incidental Mutation 'R1270:Taar1'
| ID |
151282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taar1
|
| Ensembl Gene |
ENSMUSG00000056379 |
| Gene Name |
trace amine-associated receptor 1 |
| Synonyms |
Trar1, Tar1 |
| MMRRC Submission |
039336-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R1270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
23796304-23797302 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23796431 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 43
(V43A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051532]
|
| AlphaFold |
Q923Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051532
AA Change: V43A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049527
Gene: ENSMUSG00000056379
AA Change: V43A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
33 |
316 |
1.4e-11 |
PFAM |
|
Pfam:7tm_1
|
39 |
301 |
2.4e-62 |
PFAM |
|
| Meta Mutation Damage Score |
0.7276 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a G-protein coupled receptor activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation display decreased prepulse inhibition and increased sensitivity to amphetamines. Mice homozygous for another knock-out allele exhibit increased sensitivity to MDMA-induced hyperthermia, brain dopamine and serotonin levels, and induced hyperactivity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,248,210 (GRCm39) |
R1129Q |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,765,118 (GRCm39) |
K93M |
probably damaging |
Het |
| Aldh1a2 |
T |
G |
9: 71,188,988 (GRCm39) |
L301V |
probably benign |
Het |
| Alg9 |
A |
G |
9: 50,698,872 (GRCm39) |
|
probably benign |
Het |
| Aspg |
C |
T |
12: 112,082,881 (GRCm39) |
T187I |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,006,333 (GRCm39) |
H1662Q |
probably damaging |
Het |
| C4a |
A |
G |
17: 35,033,505 (GRCm39) |
|
noncoding transcript |
Het |
| Cdh2 |
T |
G |
18: 16,760,614 (GRCm39) |
|
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,165,739 (GRCm39) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,832,601 (GRCm39) |
V1509I |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 25,041,321 (GRCm39) |
S248P |
probably benign |
Het |
| Dgkd |
A |
T |
1: 87,861,847 (GRCm39) |
M801L |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,617,896 (GRCm39) |
E1152G |
possibly damaging |
Het |
| Enkd1 |
A |
G |
8: 106,430,533 (GRCm39) |
I334T |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,898,329 (GRCm39) |
A803V |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,055,143 (GRCm39) |
N95S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,123,911 (GRCm39) |
G626R |
probably damaging |
Het |
| Kank2 |
A |
T |
9: 21,684,056 (GRCm39) |
N724K |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,185,905 (GRCm39) |
D416G |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,443,252 (GRCm39) |
E645G |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,531 (GRCm39) |
|
probably null |
Het |
| Muc1 |
T |
A |
3: 89,139,414 (GRCm39) |
Y605N |
probably damaging |
Het |
| Or4a47 |
C |
T |
2: 89,665,666 (GRCm39) |
V208M |
possibly damaging |
Het |
| Or8g17 |
A |
C |
9: 38,930,543 (GRCm39) |
I98R |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,218,355 (GRCm39) |
I952N |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,856 (GRCm39) |
Y90* |
probably null |
Het |
| Swt1 |
A |
T |
1: 151,260,142 (GRCm39) |
N752K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 35,932,486 (GRCm39) |
N1702D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,363,143 (GRCm39) |
|
probably null |
Het |
| Trim2 |
G |
A |
3: 84,074,984 (GRCm39) |
A686V |
probably damaging |
Het |
| Ube2q2l |
A |
T |
6: 136,378,785 (GRCm39) |
I15N |
probably damaging |
Het |
|
| Other mutations in Taar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Taar1
|
APN |
10 |
23,796,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0022:Taar1
|
UTSW |
10 |
23,796,625 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0126:Taar1
|
UTSW |
10 |
23,796,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0442:Taar1
|
UTSW |
10 |
23,796,380 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0720:Taar1
|
UTSW |
10 |
23,796,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0931:Taar1
|
UTSW |
10 |
23,797,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Taar1
|
UTSW |
10 |
23,797,087 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2137:Taar1
|
UTSW |
10 |
23,797,168 (GRCm39) |
missense |
probably benign |
|
|
R3765:Taar1
|
UTSW |
10 |
23,797,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3873:Taar1
|
UTSW |
10 |
23,796,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5334:Taar1
|
UTSW |
10 |
23,796,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Taar1
|
UTSW |
10 |
23,797,214 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5578:Taar1
|
UTSW |
10 |
23,796,718 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7048:Taar1
|
UTSW |
10 |
23,796,722 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7096:Taar1
|
UTSW |
10 |
23,796,809 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7163:Taar1
|
UTSW |
10 |
23,796,918 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7707:Taar1
|
UTSW |
10 |
23,797,135 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7854:Taar1
|
UTSW |
10 |
23,796,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8036:Taar1
|
UTSW |
10 |
23,797,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8442:Taar1
|
UTSW |
10 |
23,796,522 (GRCm39) |
nonsense |
probably null |
|
|
R8855:Taar1
|
UTSW |
10 |
23,796,976 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9777:Taar1
|
UTSW |
10 |
23,796,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCAACAGCCAGAGGGAAAGC -3'
(R):5'- CACACAGCACAGTAGCGGTCAATG -3'
Sequencing Primer
(F):5'- AAAGCCCAGCCTGTGTC -3'
(R):5'- CACAGTAGCGGTCAATGGAAATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation