Incidental Mutation 'R2891:Taar8a'
ID |
260102 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taar8a
|
Ensembl Gene |
ENSMUSG00000096442 |
Gene Name |
trace amine-associated receptor 8A |
Synonyms |
LOC215859 |
MMRRC Submission |
040479-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R2891 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
23952398-23953432 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23953028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 211
(V211I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051133]
|
AlphaFold |
Q5QD07 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051133
AA Change: V211I
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000062719 Gene: ENSMUSG00000096442 AA Change: V211I
Domain | Start | End | E-Value | Type |
Pfam:7TM_GPCR_Srx
|
40 |
244 |
3.9e-8 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
42 |
327 |
7.1e-15 |
PFAM |
Pfam:7tm_1
|
48 |
312 |
9.1e-58 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
Clcn6 |
C |
T |
4: 148,097,073 (GRCm39) |
|
probably null |
Het |
Farp1 |
C |
T |
14: 121,494,148 (GRCm39) |
A543V |
probably damaging |
Het |
Hhat |
T |
C |
1: 192,277,394 (GRCm39) |
Y355C |
probably damaging |
Het |
Ireb2 |
A |
T |
9: 54,807,274 (GRCm39) |
H612L |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
Klf7 |
T |
C |
1: 64,081,521 (GRCm39) |
Y269C |
probably damaging |
Het |
Klhl9 |
T |
C |
4: 88,639,207 (GRCm39) |
I345V |
probably benign |
Het |
Miga2 |
A |
T |
2: 30,268,306 (GRCm39) |
|
probably null |
Het |
Nadk |
A |
G |
4: 155,671,817 (GRCm39) |
N232S |
possibly damaging |
Het |
Ncoa6 |
T |
A |
2: 155,279,881 (GRCm39) |
D45V |
possibly damaging |
Het |
Pcnx2 |
A |
G |
8: 126,617,797 (GRCm39) |
S153P |
probably damaging |
Het |
Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
Shprh |
T |
G |
10: 11,040,100 (GRCm39) |
S4R |
probably damaging |
Het |
Vpreb3 |
C |
T |
10: 75,779,056 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Taar8a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:Taar8a
|
APN |
10 |
23,952,759 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01546:Taar8a
|
APN |
10 |
23,952,813 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01597:Taar8a
|
APN |
10 |
23,952,756 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02387:Taar8a
|
APN |
10 |
23,953,260 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02815:Taar8a
|
APN |
10 |
23,953,278 (GRCm39) |
missense |
probably benign |
0.02 |
R0762:Taar8a
|
UTSW |
10 |
23,952,975 (GRCm39) |
missense |
probably benign |
0.34 |
R1690:Taar8a
|
UTSW |
10 |
23,952,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R3889:Taar8a
|
UTSW |
10 |
23,952,923 (GRCm39) |
missense |
probably benign |
0.00 |
R3962:Taar8a
|
UTSW |
10 |
23,953,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R4090:Taar8a
|
UTSW |
10 |
23,953,062 (GRCm39) |
missense |
probably damaging |
0.96 |
R6580:Taar8a
|
UTSW |
10 |
23,952,791 (GRCm39) |
missense |
probably damaging |
0.99 |
R6605:Taar8a
|
UTSW |
10 |
23,952,674 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7422:Taar8a
|
UTSW |
10 |
23,952,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7571:Taar8a
|
UTSW |
10 |
23,953,306 (GRCm39) |
nonsense |
probably null |
|
R8265:Taar8a
|
UTSW |
10 |
23,952,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R9317:Taar8a
|
UTSW |
10 |
23,952,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9371:Taar8a
|
UTSW |
10 |
23,952,753 (GRCm39) |
missense |
probably benign |
0.00 |
R9710:Taar8a
|
UTSW |
10 |
23,952,714 (GRCm39) |
missense |
probably damaging |
0.97 |
R9755:Taar8a
|
UTSW |
10 |
23,952,995 (GRCm39) |
missense |
probably benign |
0.01 |
X0022:Taar8a
|
UTSW |
10 |
23,953,406 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0062:Taar8a
|
UTSW |
10 |
23,953,279 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCATCTCCTGGATTCTGCC -3'
(R):5'- GTGATGAAGCCCATGAAAGC -3'
Sequencing Primer
(F):5'- GGATTCTGCCCCTGGTGTAC -3'
(R):5'- GCATCAACCAATGCGTCAATTGTG -3'
|
Posted On |
2015-01-23 |