Incidental Mutation 'R4861:Tas2r117'
| ID |
374294 |
| 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
|
Not 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: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 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 |
| Bora |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
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 |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
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 |
| 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 |
| 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'- TATCTCCCAGAGCACACTTTCAG -3'
(R):5'- TCAGGAGGAGCAATGACACC -3'
Sequencing Primer
(F):5'- GCACACTTTCAGTCATTTTAATCGTG -3'
(R):5'- AACTGAAACTACTTTTTCAACTCTCC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation