Mutagenetix > Incidental Mutation

Incidental Mutation 'R7335:Tas2r118'

569427

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

045372-MU

Accession Numbers

Essential gene?

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

Stock #

R7335 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23969160-23970059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23969749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 104 (C104Y)

Ref Sequence

ENSEMBL: ENSMUSP00000053700 (fasta)

Gene Model

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

AlphaFold

P59529

Predicted Effect

probably damaging
Transcript: ENSMUST00000062463
AA Change: C104Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: C104Y

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,493,093 (GRCm39)	S35G	probably benign	Het
Adcy6	G	T	15: 98,501,757 (GRCm39)	Q286K	probably benign	Het
Agrn	A	G	4: 156,260,989 (GRCm39)	S676P	probably damaging	Het
Arpp21	A	T	9: 112,005,319 (GRCm39)		probably null	Het
Bmal2	A	G	6: 146,711,217 (GRCm39)	M74V	probably benign	Het
C1rb	A	T	6: 124,552,238 (GRCm39)	I319F	possibly damaging	Het
C2cd3	T	C	7: 100,071,810 (GRCm39)	V629A		Het
Cacna1i	T	G	15: 80,259,776 (GRCm39)	F1287C	probably damaging	Het
Catspere2	A	G	1: 177,926,074 (GRCm39)	I247V	probably benign	Het
Cd101	C	G	3: 100,926,045 (GRCm39)	A229P	probably benign	Het
Cdh23	T	C	10: 60,140,895 (GRCm39)	D3151G	probably damaging	Het
Cenpc1	C	A	5: 86,182,212 (GRCm39)	K557N	possibly damaging	Het
Col6a4	G	A	9: 105,954,091 (GRCm39)	T416M	possibly damaging	Het
Cyp2c67	A	T	19: 39,628,451 (GRCm39)	C164*	probably null	Het
Dop1b	A	G	16: 93,544,396 (GRCm39)	E179G	probably benign	Het
Duoxa2	A	T	2: 122,131,821 (GRCm39)	Y170F	possibly damaging	Het
Fras1	A	G	5: 96,884,829 (GRCm39)	K2569R	possibly damaging	Het
Fsip2	C	A	2: 82,813,462 (GRCm39)	H3260Q	probably benign	Het
Gm3402	T	C	5: 146,452,043 (GRCm39)	I121T	probably benign	Het
Herc3	T	A	6: 58,853,773 (GRCm39)	H606Q	possibly damaging	Het
Hmcn2	T	C	2: 31,282,169 (GRCm39)	V1927A	possibly damaging	Het
Hnf4g	A	G	3: 3,717,924 (GRCm39)	H347R	possibly damaging	Het
Hs3st3a1	A	G	11: 64,411,163 (GRCm39)	T234A	probably benign	Het
Hyal1	G	T	9: 107,456,359 (GRCm39)	V379L	probably benign	Het
Ighv1-19	A	G	12: 114,672,571 (GRCm39)		probably benign	Het
Iqcc	T	A	4: 129,510,501 (GRCm39)	Q338L	not run	Het
Kdm5b	T	C	1: 134,488,177 (GRCm39)	V34A	probably damaging	Het
Lgals4	T	C	7: 28,540,571 (GRCm39)	F225L	probably benign	Het
Lmtk3	C	T	7: 45,444,581 (GRCm39)	T1088I	unknown	Het
Magel2	A	T	7: 62,030,524 (GRCm39)	S1143C	unknown	Het
Mapk4	A	T	18: 74,070,338 (GRCm39)	L185Q	possibly damaging	Het
Mtcl2	T	C	2: 156,872,925 (GRCm39)	Q862R	possibly damaging	Het
Ncam1	A	G	9: 49,418,211 (GRCm39)	S1030P		Het
Nynrin	A	T	14: 56,101,371 (GRCm39)	T347S	probably benign	Het
Pak5	T	C	2: 135,940,219 (GRCm39)	T532A	probably damaging	Het
Pcdhb15	A	G	18: 37,607,389 (GRCm39)	E207G	probably damaging	Het
Pde6h	T	C	6: 136,940,211 (GRCm39)	W66R	probably damaging	Het
Pmaip1	T	C	18: 66,591,885 (GRCm39)		probably null	Het
Prkd3	A	G	17: 79,261,995 (GRCm39)	F774S	probably damaging	Het
Prox1	T	A	1: 189,894,042 (GRCm39)	R134S	possibly damaging	Het
Ptpn22	T	A	3: 103,793,335 (GRCm39)	H495Q	probably damaging	Het
Ptprj	G	T	2: 90,271,126 (GRCm39)	Q1201K	probably benign	Het
Rp1l1	A	G	14: 64,269,447 (GRCm39)	S1678G	probably benign	Het
Sez6l	G	T	5: 112,724,678 (GRCm39)		probably null	Het
Sgcg	T	A	14: 61,477,816 (GRCm39)	Y91F	probably damaging	Het
Skint2	C	T	4: 112,481,415 (GRCm39)	L93F	probably damaging	Het
Slc22a22	A	T	15: 57,126,771 (GRCm39)	D99E	probably benign	Het
Slco3a1	A	G	7: 73,934,090 (GRCm39)	I694T	probably damaging	Het
Smurf2	A	T	11: 106,736,911 (GRCm39)	I305N	possibly damaging	Het
Stac3	T	A	10: 127,340,769 (GRCm39)	V178D	probably benign	Het
Suclg2	G	A	6: 95,543,444 (GRCm39)	A329V	probably damaging	Het
Suclg2	T	A	6: 95,543,441 (GRCm39)	N330I	probably damaging	Het
Tom1l2	T	G	11: 60,135,991 (GRCm39)	E327D	probably benign	Het
Trit1	T	C	4: 122,910,572 (GRCm39)	M57T	possibly damaging	Het
Vav1	G	A	17: 57,603,720 (GRCm39)	S134N	probably benign	Het
Vmn2r82	T	C	10: 79,214,722 (GRCm39)	L235P	probably damaging	Het
Zfp735	T	A	11: 73,602,379 (GRCm39)	V441E	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
R6976:Tas2r118	UTSW	6	23,969,470 (GRCm39)	missense	probably benign	0.04
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'- TCTTGGGTAAATTATCTAGGGTGAC -3'
(R):5'- AAGTTGCACAACGGTTGCAG -3'

Sequencing Primer
(F):5'- ATCTAGGGTGACTAATTCCATCTGG -3'
(R):5'- TTCAAAGACTGTCACCGGTG -3'

Posted On

2019-09-13