Incidental Mutation 'R5241:Tas2r123'
| ID |
400816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r123
|
| Ensembl Gene |
ENSMUSG00000057381 |
| Gene Name |
taste receptor, type 2, member 123 |
| Synonyms |
mt2r55, mGR23, STC 9-2, T2R23, Tas2r23 |
| MMRRC Submission |
042812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5241 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
132824105-132825106 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132824181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 26
(I26T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071696]
|
| AlphaFold |
P59528 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071696
AA Change: I26T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000071615
Gene: ENSMUSG00000057381
AA Change: I26T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
7 |
322 |
4.6e-79 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930033H14Rik |
A |
G |
10: 69,048,581 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
T |
C |
1: 25,150,871 (GRCm39) |
T881A |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,048 (GRCm39) |
C3464* |
probably null |
Het |
| Afp |
A |
G |
5: 90,649,473 (GRCm39) |
M347V |
probably benign |
Het |
| Apc2 |
A |
G |
10: 80,148,068 (GRCm39) |
T1041A |
probably benign |
Het |
| Atl1 |
T |
C |
12: 70,005,887 (GRCm39) |
S398P |
possibly damaging |
Het |
| Atp8b4 |
G |
A |
2: 126,225,646 (GRCm39) |
P528L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,162,229 (GRCm39) |
P176T |
probably damaging |
Het |
| Bsnd |
A |
G |
4: 106,345,182 (GRCm39) |
V88A |
probably benign |
Het |
| Dnah7c |
T |
A |
1: 46,569,660 (GRCm39) |
F687Y |
probably benign |
Het |
| Dok6 |
T |
C |
18: 89,616,913 (GRCm39) |
I23M |
possibly damaging |
Het |
| Fcgbp |
A |
T |
7: 27,784,624 (GRCm39) |
D228V |
probably damaging |
Het |
| Gatad2a |
G |
A |
8: 70,370,667 (GRCm39) |
Q107* |
probably null |
Het |
| Glis3 |
G |
T |
19: 28,327,423 (GRCm39) |
T663K |
probably benign |
Het |
| Gm10784 |
T |
A |
13: 50,099,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmc2 |
C |
T |
15: 63,696,743 (GRCm39) |
R476H |
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,735,995 (GRCm39) |
S202P |
possibly damaging |
Het |
| Map3k8 |
T |
C |
18: 4,340,750 (GRCm39) |
E188G |
probably damaging |
Het |
| Mccc1 |
T |
A |
3: 36,028,345 (GRCm39) |
Q487L |
probably benign |
Het |
| Msantd1 |
A |
G |
5: 35,078,813 (GRCm39) |
D116G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,095,275 (GRCm39) |
S212T |
probably benign |
Het |
| Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
| Or4p19 |
T |
C |
2: 88,242,442 (GRCm39) |
T187A |
possibly damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,524 (GRCm39) |
V192A |
probably benign |
Het |
| Or6k8-ps1 |
T |
A |
1: 173,979,667 (GRCm39) |
I195N |
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,269,451 (GRCm39) |
H272Q |
probably benign |
Het |
| Pdia5 |
T |
C |
16: 35,250,145 (GRCm39) |
N242S |
probably benign |
Het |
| Pkd1l2 |
A |
T |
8: 117,761,857 (GRCm39) |
D1441E |
probably damaging |
Het |
| Runx2 |
G |
T |
17: 44,950,664 (GRCm39) |
Y203* |
probably null |
Het |
| Sdr9c7 |
T |
G |
10: 127,745,659 (GRCm39) |
I257S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,444 (GRCm39) |
M89T |
probably benign |
Het |
| St14 |
G |
T |
9: 31,011,714 (GRCm39) |
C397* |
probably null |
Het |
| Tmem144 |
A |
T |
3: 79,721,431 (GRCm39) |
M329K |
probably benign |
Het |
| Tmem252 |
T |
C |
19: 24,651,491 (GRCm39) |
M20T |
probably benign |
Het |
| Umodl1 |
T |
C |
17: 31,203,066 (GRCm39) |
V473A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,312,704 (GRCm39) |
R58* |
probably null |
Het |
| Zer1 |
A |
C |
2: 29,994,982 (GRCm39) |
L471R |
probably damaging |
Het |
| Zfp101 |
C |
T |
17: 33,601,210 (GRCm39) |
C182Y |
probably benign |
Het |
|
| Other mutations in Tas2r123 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Tas2r123
|
APN |
6 |
132,824,369 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01547:Tas2r123
|
APN |
6 |
132,824,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Tas2r123
|
APN |
6 |
132,824,703 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03303:Tas2r123
|
APN |
6 |
132,824,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Tas2r123
|
UTSW |
6 |
132,824,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0068:Tas2r123
|
UTSW |
6 |
132,824,955 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0068:Tas2r123
|
UTSW |
6 |
132,824,955 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0110:Tas2r123
|
UTSW |
6 |
132,824,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0364:Tas2r123
|
UTSW |
6 |
132,824,644 (GRCm39) |
missense |
probably benign |
|
|
R0415:Tas2r123
|
UTSW |
6 |
132,824,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0469:Tas2r123
|
UTSW |
6 |
132,824,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1791:Tas2r123
|
UTSW |
6 |
132,824,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Tas2r123
|
UTSW |
6 |
132,824,295 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2328:Tas2r123
|
UTSW |
6 |
132,824,279 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4282:Tas2r123
|
UTSW |
6 |
132,825,008 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4283:Tas2r123
|
UTSW |
6 |
132,825,008 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4939:Tas2r123
|
UTSW |
6 |
132,824,808 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5079:Tas2r123
|
UTSW |
6 |
132,824,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5288:Tas2r123
|
UTSW |
6 |
132,824,190 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5851:Tas2r123
|
UTSW |
6 |
132,824,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6725:Tas2r123
|
UTSW |
6 |
132,824,801 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6895:Tas2r123
|
UTSW |
6 |
132,824,133 (GRCm39) |
missense |
probably benign |
|
|
R7017:Tas2r123
|
UTSW |
6 |
132,824,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7183:Tas2r123
|
UTSW |
6 |
132,824,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8972:Tas2r123
|
UTSW |
6 |
132,824,333 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9321:Tas2r123
|
UTSW |
6 |
132,825,095 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAACCCAAGATTTTCATGGAGG -3'
(R):5'- CTGATCTCCTAGGCAAATGTGG -3'
Sequencing Primer
(F):5'- CCCAAGATTTTCATGGAGGAATTATG -3'
(R):5'- TCCTAGGCAAATGTGGGCACAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation