Incidental Mutation 'R4861:Tas2r117'
ID |
380248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tas2r117
|
Ensembl Gene |
ENSMUSG00000058349 |
Gene Name |
taste receptor, type 2, member 117 |
Synonyms |
T2R17, mGR17, Tas2r17, mt2r54 |
MMRRC Submission |
042472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R4861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
132779864-132780856 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 132780092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 77
(F77L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069768
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068302]
|
AlphaFold |
Q7M715 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068302
AA Change: F77L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000069768 Gene: ENSMUSG00000058349 AA Change: F77L
Domain | Start | End | E-Value | Type |
Pfam:TAS2R
|
8 |
307 |
1.2e-85 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 84.7%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
Cept1 |
A |
C |
3: 106,413,048 (GRCm39) |
S226A |
probably damaging |
Het |
Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
Frmd6 |
T |
G |
12: 70,940,500 (GRCm39) |
S382A |
probably damaging |
Het |
Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
Mvk |
C |
T |
5: 114,598,258 (GRCm39) |
|
probably benign |
Het |
Mzt1 |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
probably benign |
Het |
|
Other mutations in Tas2r117 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01611:Tas2r117
|
APN |
6 |
132,780,450 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01611:Tas2r117
|
APN |
6 |
132,780,447 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02140:Tas2r117
|
APN |
6 |
132,780,558 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02154:Tas2r117
|
APN |
6 |
132,780,678 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02466:Tas2r117
|
APN |
6 |
132,779,963 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02942:Tas2r117
|
APN |
6 |
132,780,657 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03328:Tas2r117
|
APN |
6 |
132,780,041 (GRCm39) |
missense |
probably benign |
0.40 |
PIT4480001:Tas2r117
|
UTSW |
6 |
132,780,014 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0380:Tas2r117
|
UTSW |
6 |
132,780,551 (GRCm39) |
nonsense |
probably null |
|
R0456:Tas2r117
|
UTSW |
6 |
132,780,354 (GRCm39) |
missense |
probably benign |
0.12 |
R0699:Tas2r117
|
UTSW |
6 |
132,780,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R2118:Tas2r117
|
UTSW |
6 |
132,780,129 (GRCm39) |
missense |
probably damaging |
0.96 |
R2265:Tas2r117
|
UTSW |
6 |
132,780,188 (GRCm39) |
missense |
probably benign |
0.06 |
R4420:Tas2r117
|
UTSW |
6 |
132,780,312 (GRCm39) |
nonsense |
probably null |
|
R4861:Tas2r117
|
UTSW |
6 |
132,780,092 (GRCm39) |
missense |
probably benign |
0.00 |
R5233:Tas2r117
|
UTSW |
6 |
132,780,585 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5384:Tas2r117
|
UTSW |
6 |
132,780,117 (GRCm39) |
missense |
probably benign |
0.04 |
R6750:Tas2r117
|
UTSW |
6 |
132,779,817 (GRCm39) |
start gained |
probably benign |
|
R6852:Tas2r117
|
UTSW |
6 |
132,779,892 (GRCm39) |
missense |
probably benign |
0.00 |
R6902:Tas2r117
|
UTSW |
6 |
132,780,288 (GRCm39) |
missense |
probably damaging |
0.98 |
R6946:Tas2r117
|
UTSW |
6 |
132,780,288 (GRCm39) |
missense |
probably damaging |
0.98 |
R7129:Tas2r117
|
UTSW |
6 |
132,780,350 (GRCm39) |
missense |
probably benign |
0.01 |
R7412:Tas2r117
|
UTSW |
6 |
132,780,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Tas2r117
|
UTSW |
6 |
132,780,138 (GRCm39) |
missense |
probably benign |
0.02 |
R7768:Tas2r117
|
UTSW |
6 |
132,780,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R7953:Tas2r117
|
UTSW |
6 |
132,780,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R9629:Tas2r117
|
UTSW |
6 |
132,780,374 (GRCm39) |
missense |
probably benign |
0.41 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCCCAGAGCACACTTTCAG -3'
(R):5'- TCAGGAGGAGCAATGACACC -3'
Sequencing Primer
(F):5'- GCACACTTTCAGTCATTTTAATCGTG -3'
(R):5'- AACTGAAACTACTTTTTCAACTCTCC -3'
|
Posted On |
2016-04-15 |