Incidental Mutation 'R5559:Tas2r104'
| ID |
436450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r104
|
| Ensembl Gene |
ENSMUSG00000061977 |
| Gene Name |
taste receptor, type 2, member 104 |
| Synonyms |
mt2r45, Tas2r4, mGR04, T2R04 |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
131661799-131662707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131662094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 205
(H205L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053652]
[ENSMUST00000072404]
[ENSMUST00000080619]
|
| AlphaFold |
Q7M723 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053652
|
| SMART Domains |
Protein: ENSMUSP00000058006
Gene: ENSMUSG00000051153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
298 |
9.4e-109 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072404
AA Change: H205L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072237
Gene: ENSMUSG00000061977
AA Change: H205L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
298 |
8.3e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080619
|
| SMART Domains |
Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
298 |
8.1e-104 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Sp1 |
T |
A |
15: 102,317,365 (GRCm39) |
S295T |
probably benign |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
Het |
|
| Other mutations in Tas2r104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00590:Tas2r104
|
APN |
6 |
131,662,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01390:Tas2r104
|
APN |
6 |
131,662,448 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02751:Tas2r104
|
APN |
6 |
131,662,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4585001:Tas2r104
|
UTSW |
6 |
131,662,521 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0218:Tas2r104
|
UTSW |
6 |
131,662,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Tas2r104
|
UTSW |
6 |
131,662,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0472:Tas2r104
|
UTSW |
6 |
131,662,434 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0614:Tas2r104
|
UTSW |
6 |
131,662,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1290:Tas2r104
|
UTSW |
6 |
131,661,808 (GRCm39) |
nonsense |
probably null |
|
|
R1480:Tas2r104
|
UTSW |
6 |
131,662,257 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1698:Tas2r104
|
UTSW |
6 |
131,662,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2050:Tas2r104
|
UTSW |
6 |
131,662,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Tas2r104
|
UTSW |
6 |
131,662,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3824:Tas2r104
|
UTSW |
6 |
131,662,002 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R3852:Tas2r104
|
UTSW |
6 |
131,661,888 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4283:Tas2r104
|
UTSW |
6 |
131,662,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Tas2r104
|
UTSW |
6 |
131,662,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4710:Tas2r104
|
UTSW |
6 |
131,662,407 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4954:Tas2r104
|
UTSW |
6 |
131,661,968 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5765:Tas2r104
|
UTSW |
6 |
131,662,236 (GRCm39) |
missense |
probably benign |
|
|
R5843:Tas2r104
|
UTSW |
6 |
131,661,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7304:Tas2r104
|
UTSW |
6 |
131,662,005 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8559:Tas2r104
|
UTSW |
6 |
131,662,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Tas2r104
|
UTSW |
6 |
131,662,632 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8951:Tas2r104
|
UTSW |
6 |
131,662,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCCTGCTTGTTAGAATTAGG -3'
(R):5'- TTCCTTTCCGCTAGCTGTGAAG -3'
Sequencing Primer
(F):5'- TACATGGCTGACAAAGTGAAGCC -3'
(R):5'- CCGCTAGCTGTGAAGGTCATTAAAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation