Mutagenetix > Incidental Mutation

Incidental Mutation 'R6976:Tas2r118'

542453

Institutional Source

Beutler Lab

Gene Symbol

Tas2r118

Ensembl Gene

ENSMUSG00000043865

Gene Name

taste receptor, type 2, member 118

Synonyms

T2R18, mt2r40, mGR18, Tas2r18

MMRRC Submission

045382-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23969160-23970059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23969470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 197 (I197T)

Ref Sequence

ENSEMBL: ENSMUSP00000053700 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062463]

AlphaFold

P59529

Predicted Effect

probably benign
Transcript: ENSMUST00000062463
AA Change: I197T

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: I197T

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	297	4.6e-87	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (50/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of candidate taste receptors that are members of the G protein-coupled receptor superfamily. These family members are specifically expressed by taste receptor cells of the tongue and palate epithelia. Each of these apparently intronless genes encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered with another 3 candidate taste receptor genes in chromosome 7 and is genetically linked to loci that influence bitter perception. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	A	2: 155,397,929 (GRCm39)		probably null	Het
Adamts4	G	T	1: 171,079,877 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,669,116 (GRCm39)	K2480M	probably damaging	Het
Ankhd1	A	C	18: 36,781,307 (GRCm39)	S2120R	probably benign	Het
Ash1l	T	A	3: 88,888,964 (GRCm39)	V281E	possibly damaging	Het
Bdh1	G	A	16: 31,256,847 (GRCm39)	A35T	probably benign	Het
Brpf3	A	G	17: 29,054,751 (GRCm39)	M1098V	probably damaging	Het
Cel	G	A	2: 28,446,854 (GRCm39)	S439F	probably damaging	Het
Dnah11	T	C	12: 118,162,378 (GRCm39)	S64G	probably benign	Het
Dpp7	T	C	2: 25,244,836 (GRCm39)		probably null	Het
Fam83c	T	A	2: 155,672,157 (GRCm39)	Y426F	possibly damaging	Het
Fasn	A	G	11: 120,710,693 (GRCm39)	I322T	probably damaging	Het
Glod4	A	G	11: 76,134,406 (GRCm39)	F22S	probably damaging	Het
Gm3127	A	G	14: 15,432,190 (GRCm39)	T231A	possibly damaging	Het
Gm49383	A	G	12: 69,243,730 (GRCm39)	S444P	possibly damaging	Het
Gnaz	T	C	10: 74,827,268 (GRCm39)	S7P	possibly damaging	Het
Grin2b	C	T	6: 135,757,198 (GRCm39)	S421N	probably benign	Het
Grm1	T	C	10: 10,564,924 (GRCm39)	D1128G	probably benign	Het
Hoxb13	A	G	11: 96,087,044 (GRCm39)	T284A	probably benign	Het
Il9r	G	A	11: 32,143,177 (GRCm39)	Q260*	probably null	Het
Lrrfip1	T	A	1: 91,042,737 (GRCm39)	C381S	probably benign	Het
Mitd1	A	T	1: 37,921,778 (GRCm39)	D85E	probably benign	Het
Muc4	G	A	16: 32,582,892 (GRCm39)	D2556N	possibly damaging	Het
Nlrc4	A	G	17: 74,752,934 (GRCm39)	I483T	probably damaging	Het
Or13e8	A	G	4: 43,697,170 (GRCm39)	M1T	probably null	Het
Or2ag17	A	T	7: 106,389,434 (GRCm39)	M258K	probably damaging	Het
Or8g4	A	G	9: 39,662,540 (GRCm39)	N286S	probably damaging	Het
Pcdhb7	C	A	18: 37,476,631 (GRCm39)	A589E	probably benign	Het
Pcdhgb5	G	A	18: 37,864,321 (GRCm39)	E39K	probably damaging	Het
Pja2	T	C	17: 64,615,954 (GRCm39)	K314E	probably damaging	Het
Plcb1	A	G	2: 135,104,159 (GRCm39)	E276G	possibly damaging	Het
Ppp2r5c	A	G	12: 110,510,579 (GRCm39)	E122G	probably damaging	Het
Prrc2c	A	T	1: 162,520,413 (GRCm39)	N732K	probably damaging	Het
Rb1cc1	T	A	1: 6,333,126 (GRCm39)	D1348E	probably benign	Het
Sh3rf1	G	T	8: 61,814,766 (GRCm39)	E442*	probably null	Het
Snapc1	A	G	12: 74,016,974 (GRCm39)	D204G	probably damaging	Het
Sry	C	T	Y: 2,662,938 (GRCm39)	D241N	unknown	Het
Strn4	T	A	7: 16,564,279 (GRCm39)	M303K	probably benign	Het
Tnni3k	A	G	3: 154,498,413 (GRCm39)	Y809H	probably benign	Het
Tnpo3	A	T	6: 29,572,594 (GRCm39)	C419*	probably null	Het
Trpm6	T	C	19: 18,760,527 (GRCm39)	S143P	probably benign	Het
Ttc23l	A	T	15: 10,537,666 (GRCm39)	C201*	probably null	Het
Ubr4	A	G	4: 139,120,388 (GRCm39)	N271S	probably damaging	Het
Vmn1r70	T	C	7: 10,367,971 (GRCm39)	M134T	probably benign	Het
Vmn2r27	C	T	6: 124,201,312 (GRCm39)	W215*	probably null	Het
Xirp1	A	T	9: 119,846,984 (GRCm39)	M633K	probably damaging	Het
Zfp174	T	C	16: 3,665,804 (GRCm39)	I23T	possibly damaging	Het
Zfp536	T	A	7: 37,179,828 (GRCm39)	S926C	probably damaging	Het
Zfp943	T	C	17: 22,209,922 (GRCm39)	S65P	possibly damaging	Het

Other mutations in Tas2r118

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01350:Tas2r118	APN	6	23,969,746 (GRCm39)	missense	probably damaging	0.99
IGL02517:Tas2r118	APN	6	23,969,891 (GRCm39)	missense	probably damaging	1.00
IGL03387:Tas2r118	APN	6	23,969,180 (GRCm39)	missense	possibly damaging	0.71
PIT4382001:Tas2r118	UTSW	6	23,969,785 (GRCm39)	missense	possibly damaging	0.61
R0241:Tas2r118	UTSW	6	23,969,338 (GRCm39)	missense	probably damaging	1.00
R0241:Tas2r118	UTSW	6	23,969,338 (GRCm39)	missense	probably damaging	1.00
R0544:Tas2r118	UTSW	6	23,969,400 (GRCm39)	missense	probably damaging	0.97
R1438:Tas2r118	UTSW	6	23,969,422 (GRCm39)	missense	possibly damaging	0.79
R1471:Tas2r118	UTSW	6	23,969,170 (GRCm39)	missense	probably damaging	0.96
R1632:Tas2r118	UTSW	6	23,969,260 (GRCm39)	missense	probably benign	0.21
R2096:Tas2r118	UTSW	6	23,969,912 (GRCm39)	missense	possibly damaging	0.90
R2106:Tas2r118	UTSW	6	23,969,569 (GRCm39)	missense	probably benign
R2903:Tas2r118	UTSW	6	23,969,801 (GRCm39)	missense	possibly damaging	0.87
R2904:Tas2r118	UTSW	6	23,969,801 (GRCm39)	missense	possibly damaging	0.87
R2905:Tas2r118	UTSW	6	23,969,801 (GRCm39)	missense	possibly damaging	0.87
R3798:Tas2r118	UTSW	6	23,969,822 (GRCm39)	missense	possibly damaging	0.71
R4402:Tas2r118	UTSW	6	23,969,293 (GRCm39)	missense	probably benign	0.11
R4647:Tas2r118	UTSW	6	23,969,467 (GRCm39)	missense	probably damaging	1.00
R4707:Tas2r118	UTSW	6	23,969,225 (GRCm39)	missense	probably benign	0.26
R4965:Tas2r118	UTSW	6	23,969,627 (GRCm39)	missense	probably benign	0.41
R5114:Tas2r118	UTSW	6	23,969,209 (GRCm39)	missense	probably benign	0.05
R5823:Tas2r118	UTSW	6	23,969,470 (GRCm39)	missense	probably benign	0.04
R5834:Tas2r118	UTSW	6	23,969,876 (GRCm39)	missense	probably benign	0.06
R7335:Tas2r118	UTSW	6	23,969,749 (GRCm39)	missense	probably damaging	1.00
R8696:Tas2r118	UTSW	6	23,969,344 (GRCm39)	missense	probably damaging	1.00
R8966:Tas2r118	UTSW	6	23,970,020 (GRCm39)	missense	probably damaging	1.00
R9014:Tas2r118	UTSW	6	23,970,049 (GRCm39)	missense	probably benign	0.04
R9237:Tas2r118	UTSW	6	23,969,617 (GRCm39)	missense	probably benign	0.09
X0062:Tas2r118	UTSW	6	23,969,439 (GRCm39)	missense	probably damaging	1.00
Z1177:Tas2r118	UTSW	6	23,969,558 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATGACAGCTTCGCAGACC -3'
(R):5'- AAACTGGTTCTCTGGTTGATACTG -3'

Sequencing Primer
(F):5'- CAAGATTTCTTATCAAACACAGTGCC -3'
(R):5'- GATAGCTTCTTGTTTGTCAATCATCC -3'

Posted On

2018-11-28