Incidental Mutation 'R5812:Tas2r105'
| ID |
447555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tas2r105
|
| Ensembl Gene |
ENSMUSG00000051153 |
| Gene Name |
taste receptor, type 2, member 105 |
| Synonyms |
T2r5, T2R05, mGR05, T2R9, mt2r5, Tas2r5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R5812 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
131663524-131664426 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 131663836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 197
(L197F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053652]
[ENSMUST00000072404]
[ENSMUST00000080619]
|
| AlphaFold |
Q9JKT4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053652
AA Change: L197F
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058006
Gene: ENSMUSG00000051153
AA Change: L197F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAS2R
|
1 |
298 |
9.4e-109 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072404
|
| SMART Domains |
Protein: ENSMUSP00000072237
Gene: ENSMUSG00000061977
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null mutation respond normally to a variety of bitter, sweet, umami, salty and sour stimuli but show a striking and selective impairement in their ability to taste cycloheximide (a bitter tastant). In addition, homozygotes are no longer behaviorally averse to cycloheximide. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,882,299 (GRCm39) |
S9P |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,654,693 (GRCm39) |
Y176N |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,283,268 (GRCm39) |
V615I |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,338,153 (GRCm39) |
K47E |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,620,544 (GRCm39) |
|
probably null |
Het |
| Bcl9l |
T |
C |
9: 44,417,941 (GRCm39) |
V593A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,820,812 (GRCm39) |
W152R |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,984,808 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cxxc5 |
T |
A |
18: 35,992,109 (GRCm39) |
V170E |
probably damaging |
Het |
| Defb6 |
C |
T |
8: 19,278,110 (GRCm39) |
R61C |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,824,810 (GRCm39) |
N655K |
probably benign |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Gli1 |
C |
T |
10: 127,173,284 (GRCm39) |
G125S |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,873,424 (GRCm39) |
I51F |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,284 (GRCm39) |
S87P |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,296,755 (GRCm39) |
I504N |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,468,076 (GRCm39) |
T319A |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
C |
9: 88,251,108 (GRCm39) |
V459A |
probably damaging |
Het |
| Ogdhl |
A |
G |
14: 32,054,822 (GRCm39) |
K257E |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,970,630 (GRCm39) |
L198P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,866,540 (GRCm39) |
V378D |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pdzd7 |
G |
T |
19: 45,025,310 (GRCm39) |
T395K |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,970 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,279,642 (GRCm39) |
F770L |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,108,514 (GRCm39) |
C157F |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,119,869 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,651,403 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
A |
16: 69,655,783 (GRCm39) |
R14S |
possibly damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,957 (GRCm39) |
H113L |
possibly damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,653,040 (GRCm39) |
P64S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,889,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
T |
A |
10: 127,577,429 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Tas2r105 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Tas2r105
|
APN |
6 |
131,664,074 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01148:Tas2r105
|
APN |
6 |
131,663,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02882:Tas2r105
|
APN |
6 |
131,664,143 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0833:Tas2r105
|
UTSW |
6 |
131,664,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0836:Tas2r105
|
UTSW |
6 |
131,664,393 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1429:Tas2r105
|
UTSW |
6 |
131,663,904 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2010:Tas2r105
|
UTSW |
6 |
131,664,365 (GRCm39) |
missense |
probably benign |
0.41 |
|
R2418:Tas2r105
|
UTSW |
6 |
131,664,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4023:Tas2r105
|
UTSW |
6 |
131,663,789 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4026:Tas2r105
|
UTSW |
6 |
131,663,789 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4742:Tas2r105
|
UTSW |
6 |
131,663,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5497:Tas2r105
|
UTSW |
6 |
131,663,805 (GRCm39) |
splice site |
probably null |
|
|
R7191:Tas2r105
|
UTSW |
6 |
131,663,945 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7236:Tas2r105
|
UTSW |
6 |
131,663,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7482:Tas2r105
|
UTSW |
6 |
131,663,972 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8783:Tas2r105
|
UTSW |
6 |
131,663,732 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8986:Tas2r105
|
UTSW |
6 |
131,663,913 (GRCm39) |
nonsense |
probably null |
|
|
R9250:Tas2r105
|
UTSW |
6 |
131,663,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9580:Tas2r105
|
UTSW |
6 |
131,663,699 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0067:Tas2r105
|
UTSW |
6 |
131,664,233 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGGCTTGCTTTAGCTGGC -3'
(R):5'- TGCTAACTTCATGGGTAATCTCC -3'
Sequencing Primer
(F):5'- ATATGGATGCAGTTGTGAAACC -3'
(R):5'- ATGGGTAATCTCCTTCTCATTTGTTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation