Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Tas2r119'

521312

Institutional Source

Beutler Lab

Gene Symbol

Tas2r119

Ensembl Gene

ENSMUSG00000045267

Gene Name

taste receptor, type 2, member 119

Synonyms

mt2r19, mGR19, Tas2r19, T2R19

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32177435-32178440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32178319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 295 (C295Y)

Ref Sequence

ENSEMBL: ENSMUSP00000050277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057633]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057633
AA Change: C295Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050277
Gene: ENSMUSG00000045267
AA Change: C295Y

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	293	1.1e-90	PFAM

Meta Mutation Damage Score

0.3619

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

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 and that are specifically expressed by taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a 7-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is mapped to chromosome 5p15, the location of a genetic locus (PROP) that controls the detection of the bitter compound 6-n-propyl-2-thiouracil. [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
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Swap70	T	C	7: 109,855,027 (GRCm39)	L109P	probably benign	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably damaging	Het

Other mutations in Tas2r119

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Tas2r119	APN	15	32,177,599 (GRCm39)	missense	probably damaging	0.97
IGL01522:Tas2r119	APN	15	32,178,339 (GRCm39)	missense	probably benign	0.15
IGL01548:Tas2r119	APN	15	32,178,123 (GRCm39)	missense	probably damaging	1.00
IGL01826:Tas2r119	APN	15	32,177,548 (GRCm39)	missense	probably damaging	1.00
IGL02432:Tas2r119	APN	15	32,177,853 (GRCm39)	missense	probably benign	0.06
IGL02585:Tas2r119	APN	15	32,177,679 (GRCm39)	missense	probably benign	0.04
R2248:Tas2r119	UTSW	15	32,178,297 (GRCm39)	missense	possibly damaging	0.51
R2432:Tas2r119	UTSW	15	32,178,165 (GRCm39)	missense	possibly damaging	0.80
R5098:Tas2r119	UTSW	15	32,178,228 (GRCm39)	missense	probably benign	0.03
R5624:Tas2r119	UTSW	15	32,178,114 (GRCm39)	missense	probably damaging	1.00
R5819:Tas2r119	UTSW	15	32,177,452 (GRCm39)	missense	probably damaging	1.00
R5901:Tas2r119	UTSW	15	32,177,932 (GRCm39)	missense	possibly damaging	0.84
R6363:Tas2r119	UTSW	15	32,178,034 (GRCm39)	missense	possibly damaging	0.91
R6495:Tas2r119	UTSW	15	32,177,676 (GRCm39)	missense	probably benign
R7574:Tas2r119	UTSW	15	32,178,279 (GRCm39)	missense	probably damaging	1.00
R9004:Tas2r119	UTSW	15	32,178,109 (GRCm39)	missense	probably damaging	1.00
R9015:Tas2r119	UTSW	15	32,178,226 (GRCm39)	missense	probably damaging	1.00
R9193:Tas2r119	UTSW	15	32,177,932 (GRCm39)	missense	probably benign	0.02
X0063:Tas2r119	UTSW	15	32,178,301 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GTCAGTGCGATGCTCTCCATTC -3'
(R):5'- GTTGGGCTTTGATCATCAATTTACCC -3'

Sequencing Primer
(F):5'- ATCCTCTATCTCTCCCATGACATG -3'
(R):5'- CCCTTTGAAATGATTAAGCCTCAGG -3'

Posted On

2018-06-06