Incidental Mutation 'IGL00648:Taar6'
| ID |
14343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taar6
|
| Ensembl Gene |
ENSMUSG00000045111 |
| Gene Name |
trace amine-associated receptor 6 |
| Synonyms |
LOC215855 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
IGL00648
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
23860507-23861544 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23861406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 47
(V47M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057080]
|
| AlphaFold |
Q5QD13 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057080
AA Change: V47M
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097603
Gene: ENSMUSG00000045111
AA Change: V47M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
43 |
326 |
5.5e-13 |
PFAM |
|
Pfam:7tm_1
|
49 |
311 |
5.9e-58 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cage1 |
G |
T |
13: 38,206,969 (GRCm39) |
S398* |
probably null |
Het |
| Calr |
T |
A |
8: 85,569,331 (GRCm39) |
|
probably benign |
Het |
| Cmah |
A |
T |
13: 24,644,259 (GRCm39) |
K459* |
probably null |
Het |
| Edem1 |
T |
A |
6: 108,828,168 (GRCm39) |
|
probably null |
Het |
| Elp4 |
A |
T |
2: 105,672,711 (GRCm39) |
|
probably benign |
Het |
| Fam3b |
C |
T |
16: 97,279,599 (GRCm39) |
G110E |
probably damaging |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,916,681 (GRCm39) |
S860P |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,983,783 (GRCm39) |
T1082A |
probably benign |
Het |
| Pbrm1 |
A |
T |
14: 30,774,240 (GRCm39) |
I469F |
probably damaging |
Het |
| Ptprq |
G |
A |
10: 107,482,577 (GRCm39) |
L999F |
probably benign |
Het |
| Tom1l2 |
T |
C |
11: 60,151,942 (GRCm39) |
Y155C |
possibly damaging |
Het |
|
| Other mutations in Taar6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Taar6
|
APN |
10 |
23,861,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01060:Taar6
|
APN |
10 |
23,860,970 (GRCm39) |
missense |
probably benign |
|
|
IGL02608:Taar6
|
APN |
10 |
23,861,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0042:Taar6
|
UTSW |
10 |
23,861,021 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0042:Taar6
|
UTSW |
10 |
23,861,021 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0360:Taar6
|
UTSW |
10 |
23,861,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Taar6
|
UTSW |
10 |
23,861,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0746:Taar6
|
UTSW |
10 |
23,861,258 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1637:Taar6
|
UTSW |
10 |
23,861,079 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4893:Taar6
|
UTSW |
10 |
23,861,298 (GRCm39) |
missense |
probably benign |
|
|
R4944:Taar6
|
UTSW |
10 |
23,860,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Taar6
|
UTSW |
10 |
23,861,106 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5173:Taar6
|
UTSW |
10 |
23,861,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5181:Taar6
|
UTSW |
10 |
23,860,683 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5919:Taar6
|
UTSW |
10 |
23,861,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Taar6
|
UTSW |
10 |
23,861,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6327:Taar6
|
UTSW |
10 |
23,861,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Taar6
|
UTSW |
10 |
23,861,021 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7595:Taar6
|
UTSW |
10 |
23,860,968 (GRCm39) |
missense |
probably benign |
|
|
R7802:Taar6
|
UTSW |
10 |
23,861,151 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8053:Taar6
|
UTSW |
10 |
23,861,144 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8506:Taar6
|
UTSW |
10 |
23,861,529 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9169:Taar6
|
UTSW |
10 |
23,861,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9272:Taar6
|
UTSW |
10 |
23,860,903 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2012-12-06 |
Incidental Mutation