Incidental Mutation 'R2471:Taar9'
| ID |
253099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taar9
|
| Ensembl Gene |
ENSMUSG00000037424 |
| Gene Name |
trace amine-associated receptor 9 |
| Synonyms |
Tar3, Trar3, Ta3 |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
23984386-23985432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23985289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 48
(F48L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041180]
|
| AlphaFold |
Q5QD04 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041180
AA Change: F48L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000043552
Gene: ENSMUSG00000037424
AA Change: F48L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,247,307 (GRCm39) |
E340G |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly damaging |
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 |
|
R2519:Taar9
|
UTSW |
10 |
23,985,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Taar9
|
UTSW |
10 |
23,984,477 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- ACCGGTCAATGGAGATGCAG -3'
(R):5'- CTGGGAAGTTTACAATTACCAAGAC -3'
Sequencing Primer
(F):5'- CACGTGTGGAACTTACAGTAACTCTC -3'
(R):5'- GTTTACAATTACCAAGACTGGAGGC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation