Mutagenetix > Incidental Mutation

Incidental Mutation 'R2096:Tas2r118'

232101

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

040100-MU

Accession Numbers

Essential gene?

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

Stock #

R2096 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23969160-23970059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 23969912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 50 (I50L)

Ref Sequence

ENSEMBL: ENSMUSP00000053700 (fasta)

Gene Model

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

AlphaFold

P59529

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062463
AA Change: I50L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053700
Gene: ENSMUSG00000043865
AA Change: I50L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	G	8: 124,709,195 (GRCm39)	S120P	probably benign	Het
Actr3b	T	A	5: 26,036,743 (GRCm39)	Y185*	probably null	Het
Atg101	T	A	15: 101,188,382 (GRCm39)	H162Q	possibly damaging	Het
Btf3	T	A	13: 98,449,659 (GRCm39)	Q109L	possibly damaging	Het
Camk2d	G	A	3: 126,574,091 (GRCm39)	G166D	probably damaging	Het
Capn7	T	G	14: 31,071,844 (GRCm39)		probably null	Het
Cd209f	A	G	8: 4,155,537 (GRCm39)	V17A	probably benign	Het
Cenpf	A	G	1: 189,385,656 (GRCm39)	V2208A	possibly damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Comp	T	C	8: 70,828,713 (GRCm39)	C182R	probably damaging	Het
Ctsl	A	G	13: 64,516,840 (GRCm39)		probably null	Het
Cyp3a44	G	T	5: 145,725,215 (GRCm39)	Q329K	probably damaging	Het
Dcpp1	A	T	17: 24,099,971 (GRCm39)		probably null	Het
Dhx38	A	G	8: 110,280,891 (GRCm39)	V831A	probably damaging	Het
Dkk2	T	C	3: 131,791,858 (GRCm39)	M22T	probably benign	Het
Dnah2	C	T	11: 69,346,742 (GRCm39)	E2615K	probably damaging	Het
Dpy19l3	A	G	7: 35,426,713 (GRCm39)		probably null	Het
Gm12888	T	G	4: 121,176,655 (GRCm39)	I49L	probably benign	Het
Insyn2b	C	A	11: 34,352,936 (GRCm39)	S326Y	probably benign	Het
Kif15	T	A	9: 122,815,252 (GRCm39)	M194K	probably damaging	Het
Mael	G	T	1: 166,053,244 (GRCm39)	Q254K	probably benign	Het
Nek9	T	C	12: 85,361,322 (GRCm39)	D461G	probably benign	Het
Nlrp12	T	C	7: 3,281,825 (GRCm39)	N819S	probably benign	Het
Ntng1	T	A	3: 109,739,871 (GRCm39)	N390Y	probably damaging	Het
Or5g25	A	G	2: 85,478,434 (GRCm39)	I77T	probably benign	Het
P2ry14	C	T	3: 59,022,738 (GRCm39)	V250I	probably damaging	Het
Pcnx2	A	T	8: 126,485,987 (GRCm39)	D1870E	probably benign	Het
Phf2	T	A	13: 48,985,589 (GRCm39)	K64*	probably null	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Ppa2	A	G	3: 133,032,445 (GRCm39)	T97A	probably damaging	Het
Psd	G	A	19: 46,313,088 (GRCm39)		probably null	Het
Psg23	T	A	7: 18,348,668 (GRCm39)	E46D	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab11b	A	G	17: 33,967,976 (GRCm39)	Y74H	probably damaging	Het
Rfc3	A	T	5: 151,568,383 (GRCm39)	S194R	probably benign	Het
Sema4d	A	T	13: 51,864,037 (GRCm39)	I414N	probably damaging	Het
Serpinb1a	A	T	13: 33,031,437 (GRCm39)	D120E	probably damaging	Het
Snai2	T	A	16: 14,524,861 (GRCm39)	H122Q	possibly damaging	Het
Spats2l	T	C	1: 57,985,458 (GRCm39)	S504P	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Sspo	G	T	6: 48,438,608 (GRCm39)	V1559L	probably benign	Het
Tdrd3	C	T	14: 87,743,788 (GRCm39)	Q573*	probably null	Het
Thoc2l	T	C	5: 104,667,835 (GRCm39)	S786P	possibly damaging	Het
Tlnrd1	G	A	7: 83,532,062 (GRCm39)	T123I	probably benign	Het
Tmem214	T	A	5: 31,033,714 (GRCm39)	L555H	probably damaging	Het
Tmprss12	T	A	15: 100,183,117 (GRCm39)	M153K	probably benign	Het
Tmprss9	G	A	10: 80,725,268 (GRCm39)	G410S	probably damaging	Het
Trpm6	T	A	19: 18,803,116 (GRCm39)	M853K	probably damaging	Het
Vmn1r35	A	G	6: 66,655,929 (GRCm39)	I247T	possibly damaging	Het
Zcchc7	C	A	4: 44,931,059 (GRCm39)	P404T	probably damaging	Het
Zzef1	T	C	11: 72,763,465 (GRCm39)	F1371L	probably benign	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
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
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'- CTTGACACAGTAGAGGACAGC -3'
(R):5'- TGCTAAGAACACATGTCCGTTTC -3'

Sequencing Primer
(F):5'- GGACAGCAAGCCAACTGGTTAAC -3'
(R):5'- GAACACATGTCCGTTTCATATTCGG -3'

Posted On

2014-09-18