Incidental Mutation 'R4205:Taar9'
| ID |
318876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taar9
|
| Ensembl Gene |
ENSMUSG00000037424 |
| Gene Name |
trace amine-associated receptor 9 |
| Synonyms |
Tar3, Trar3, Ta3 |
| MMRRC Submission |
041034-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R4205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
23984386-23985432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23984477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 319
(R319H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041180]
|
| AlphaFold |
Q5QD04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041180
AA Change: R319H
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043552
Gene: ENSMUSG00000037424
AA Change: R319H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
43 |
326 |
7.3e-13 |
PFAM |
|
Pfam:7tm_1
|
49 |
311 |
8.4e-61 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAAR9 is a member of a large family of rhodopsin G protein-coupled receptors (GPCRs, or GPRs). GPCRs contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM, Jul 2005]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
G |
T |
7: 143,422,964 (GRCm39) |
V17L |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,260,667 (GRCm39) |
I294T |
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,282 (GRCm39) |
T1037M |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,250,766 (GRCm39) |
T506A |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,802,461 (GRCm39) |
F667L |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,575,231 (GRCm39) |
Q275* |
probably null |
Het |
| Dsg1b |
A |
T |
18: 20,541,878 (GRCm39) |
D795V |
probably damaging |
Het |
| Elavl1 |
A |
G |
8: 4,339,851 (GRCm39) |
W244R |
probably damaging |
Het |
| Emilin1 |
T |
C |
5: 31,077,243 (GRCm39) |
|
probably benign |
Het |
| Fam20c |
T |
G |
5: 138,741,431 (GRCm39) |
L14R |
probably damaging |
Het |
| Glt1d1 |
G |
T |
5: 127,766,935 (GRCm39) |
R217L |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,344,358 (GRCm39) |
R223H |
probably benign |
Het |
| Lrrc26 |
G |
T |
2: 25,180,170 (GRCm39) |
C57F |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,449 (GRCm39) |
Y125C |
probably damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,321 (GRCm39) |
|
probably benign |
Het |
| Mocos |
G |
A |
18: 24,799,248 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4c108 |
A |
G |
2: 88,803,482 (GRCm39) |
V251A |
probably benign |
Het |
| Pcdhgb5 |
A |
G |
18: 37,865,716 (GRCm39) |
N504D |
possibly damaging |
Het |
| Pcx |
G |
A |
19: 4,669,194 (GRCm39) |
V731M |
possibly damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Ptprh |
C |
A |
7: 4,600,991 (GRCm39) |
G129W |
probably damaging |
Het |
| Rasal1 |
T |
C |
5: 120,797,628 (GRCm39) |
V120A |
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rtn4rl1 |
A |
T |
11: 75,156,809 (GRCm39) |
I414F |
probably damaging |
Het |
| Rtn4rl1 |
C |
A |
11: 75,156,818 (GRCm39) |
P417T |
probably damaging |
Het |
| Shank3 |
T |
C |
15: 89,387,521 (GRCm39) |
L230P |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,543,789 (GRCm39) |
I880N |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,041 (GRCm39) |
D718G |
unknown |
Het |
|
| Other mutations in Taar9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00955:Taar9
|
APN |
10 |
23,985,429 (GRCm39) |
missense |
probably benign |
|
|
IGL02011:Taar9
|
APN |
10 |
23,984,477 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02883:Taar9
|
APN |
10 |
23,985,378 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1468:Taar9
|
UTSW |
10 |
23,985,382 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1468:Taar9
|
UTSW |
10 |
23,985,382 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1598:Taar9
|
UTSW |
10 |
23,985,305 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2072:Taar9
|
UTSW |
10 |
23,984,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2471:Taar9
|
UTSW |
10 |
23,985,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2519:Taar9
|
UTSW |
10 |
23,985,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Taar9
|
UTSW |
10 |
23,985,408 (GRCm39) |
missense |
probably benign |
|
|
R4801:Taar9
|
UTSW |
10 |
23,984,741 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4802:Taar9
|
UTSW |
10 |
23,984,741 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5457:Taar9
|
UTSW |
10 |
23,985,003 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6450:Taar9
|
UTSW |
10 |
23,985,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6601:Taar9
|
UTSW |
10 |
23,984,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Taar9
|
UTSW |
10 |
23,984,910 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7179:Taar9
|
UTSW |
10 |
23,984,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Taar9
|
UTSW |
10 |
23,984,843 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8200:Taar9
|
UTSW |
10 |
23,985,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9311:Taar9
|
UTSW |
10 |
23,985,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Taar9
|
UTSW |
10 |
23,984,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Taar9
|
UTSW |
10 |
23,985,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAGCCCTAAAATGTACAGGC -3'
(R):5'- ATGGCTGCATTTCTCGTGTC -3'
Sequencing Primer
(F):5'- TGAACCTAAGATCTCCTGCTGGG -3'
(R):5'- GTCCTGGCTGCCATACATTATTGATG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation