Incidental Mutation 'IGL00694:Tas2r120'
| ID |
14371 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tas2r120
|
| Ensembl Gene |
ENSMUSG00000059382 |
| Gene Name |
taste receptor, type 2, member 120 |
| Synonyms |
Tas2r20, mGR20, mt2r47, T2R20 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.048)
|
| Stock # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
132633920-132634807 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132634238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 107
(F107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071707]
|
| AlphaFold |
Q7M721 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071707
AA Change: F107L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: F107L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
294 |
2.4e-77 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Coq2 |
C |
T |
5: 100,803,180 (GRCm39) |
S370N |
probably benign |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Potegl |
A |
T |
2: 23,120,180 (GRCm39) |
Q192L |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| St3gal2 |
A |
T |
8: 111,696,213 (GRCm39) |
H266L |
probably damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,736,015 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
probably damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,156 (GRCm39) |
N175S |
probably benign |
Het |
|
| Other mutations in Tas2r120 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01725:Tas2r120
|
APN |
6 |
132,634,052 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Tas2r120
|
APN |
6 |
132,634,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01891:Tas2r120
|
APN |
6 |
132,634,807 (GRCm39) |
makesense |
probably null |
|
|
PIT4519001:Tas2r120
|
UTSW |
6 |
132,634,297 (GRCm39) |
missense |
probably benign |
|
|
R0104:Tas2r120
|
UTSW |
6 |
132,634,809 (GRCm39) |
splice site |
probably null |
|
|
R0108:Tas2r120
|
UTSW |
6 |
132,634,809 (GRCm39) |
splice site |
probably null |
|
|
R0123:Tas2r120
|
UTSW |
6 |
132,634,552 (GRCm39) |
nonsense |
probably null |
|
|
R0225:Tas2r120
|
UTSW |
6 |
132,634,552 (GRCm39) |
nonsense |
probably null |
|
|
R1812:Tas2r120
|
UTSW |
6 |
132,634,564 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2254:Tas2r120
|
UTSW |
6 |
132,634,572 (GRCm39) |
missense |
probably benign |
|
|
R3110:Tas2r120
|
UTSW |
6 |
132,634,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3112:Tas2r120
|
UTSW |
6 |
132,634,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Tas2r120
|
UTSW |
6 |
132,634,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5248:Tas2r120
|
UTSW |
6 |
132,634,110 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5372:Tas2r120
|
UTSW |
6 |
132,634,446 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6379:Tas2r120
|
UTSW |
6 |
132,634,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7015:Tas2r120
|
UTSW |
6 |
132,634,128 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7615:Tas2r120
|
UTSW |
6 |
132,634,773 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8004:Tas2r120
|
UTSW |
6 |
132,634,390 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8796:Tas2r120
|
UTSW |
6 |
132,634,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Tas2r120
|
UTSW |
6 |
132,634,626 (GRCm39) |
nonsense |
probably null |
|
|
R9250:Tas2r120
|
UTSW |
6 |
132,633,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9792:Tas2r120
|
UTSW |
6 |
132,634,528 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1176:Tas2r120
|
UTSW |
6 |
132,634,148 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation