Mutagenetix > Incidental Mutation

Incidental Mutation 'R9561:Tas2r130'

721002

Institutional Source

Beutler Lab

Gene Symbol

Tas2r130

Ensembl Gene

ENSMUSG00000054497

Gene Name

taste receptor, type 2, member 130

Synonyms

T2R30, mt2r42, Tas2r30, STC 7-4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

131606855-131607793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131607175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 207 (S207P)

Ref Sequence

ENSEMBL: ENSMUSP00000063954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067597]

AlphaFold

P59530

Predicted Effect

probably damaging
Transcript: ENSMUST00000067597
AA Change: S207P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063954
Gene: ENSMUSG00000054497
AA Change: S207P

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	304	1.7e-110	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These proteins are specifically expressed in the taste receptor cells of the tongue and palate epithelia. They are organized in the genome in clusters and are genetically linked to loci that influence bitter perception in mice and humans. In functional expression studies, they respond to bitter tastants. This gene maps to the taste receptor gene cluster on chromosome 12p13. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,680,980 (GRCm39)	I106V	possibly damaging	Het
Aars1	C	A	8: 111,763,615 (GRCm39)	F18L	probably damaging	Het
Abca7	C	T	10: 79,837,535 (GRCm39)	T473I	probably damaging	Het
Ap1m2	A	T	9: 21,209,524 (GRCm39)	I384N	probably damaging	Het
Atg16l2	G	A	7: 100,948,248 (GRCm39)	Q99*	probably null	Het
Bptf	A	T	11: 106,964,954 (GRCm39)	Y1413*	probably null	Het
Cat	T	C	2: 103,307,250 (GRCm39)	T28A	probably damaging	Het
Ccdc65	T	A	15: 98,620,759 (GRCm39)	V418D	probably benign	Het
Cd226	A	C	18: 89,265,444 (GRCm39)	I241L	probably benign	Het
Crybg1	A	G	10: 43,873,428 (GRCm39)	S1227P	probably benign	Het
Csn2	C	T	5: 87,842,794 (GRCm39)	A78T	probably benign	Het
Cyp21a1	T	A	17: 35,021,652 (GRCm39)	H305L	possibly damaging	Het
Ddx55	A	G	5: 124,706,707 (GRCm39)	E572G	possibly damaging	Het
Dguok	A	G	6: 83,467,548 (GRCm39)	Y100H	probably damaging	Het
Dync1h1	T	A	12: 110,615,533 (GRCm39)	S2955R	probably damaging	Het
Etfbkmt	A	T	6: 149,045,640 (GRCm39)		probably benign	Het
Fam222a	T	A	5: 114,749,347 (GRCm39)	I181N	probably damaging	Het
Fam24b	T	C	7: 130,927,877 (GRCm39)	D104G	probably benign	Het
Fbn2	A	T	18: 58,181,611 (GRCm39)	C1883*	probably null	Het
Fchsd2	T	G	7: 100,920,778 (GRCm39)	L461R	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Hectd4	G	A	5: 121,472,532 (GRCm39)	R2756Q	possibly damaging	Het
Ints14	A	G	9: 64,882,932 (GRCm39)	D261G	probably damaging	Het
Mapkapk5	C	T	5: 121,672,490 (GRCm39)	A163T	probably benign	Het
Micu3	A	T	8: 40,835,156 (GRCm39)	K504*	probably null	Het
Myh1	C	G	11: 67,108,618 (GRCm39)	H1345D	possibly damaging	Het
Myh7	C	A	14: 55,216,146 (GRCm39)	R1289L	probably damaging	Het
Neb	G	T	2: 52,132,068 (GRCm39)	H280Q		Het
Nrbp1	T	A	5: 31,404,771 (GRCm39)		probably null	Het
Oacyl	T	A	18: 65,831,414 (GRCm39)	V17D	possibly damaging	Het
Obsl1	C	A	1: 75,480,157 (GRCm39)	R463L	possibly damaging	Het
Or1f19	T	A	16: 3,410,725 (GRCm39)	L155Q	probably damaging	Het
Or8b40	G	A	9: 38,028,010 (GRCm39)	S311N	probably benign	Het
Pcnt	A	T	10: 76,217,128 (GRCm39)	C2184*	probably null	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phrf1	T	G	7: 140,834,815 (GRCm39)	S198A	unknown	Het
Plekhg2	C	G	7: 28,064,249 (GRCm39)	A431P	probably damaging	Het
Ppp1r13b	C	T	12: 111,810,077 (GRCm39)	D244N	probably damaging	Het
Raph1	T	C	1: 60,564,887 (GRCm39)	E200G	possibly damaging	Het
Rnf6	A	G	5: 146,147,936 (GRCm39)	S361P	probably benign	Het
Scgb2b19	G	A	7: 32,978,039 (GRCm39)	A86V	probably benign	Het
Sec23b	T	A	2: 144,408,728 (GRCm39)	C138S	possibly damaging	Het
Slco1c1	T	C	6: 141,505,606 (GRCm39)	S511P	possibly damaging	Het
Tdpoz1	A	T	3: 93,578,540 (GRCm39)	H81Q	probably benign	Het
Usp8	A	G	2: 126,578,414 (GRCm39)	K289E	probably damaging	Het
Vmn1r18	A	C	6: 57,367,202 (GRCm39)	N117K	probably benign	Het
Vps13c	G	T	9: 67,872,794 (GRCm39)	G3270V	probably damaging	Het
Wdr20	A	G	12: 110,760,187 (GRCm39)	T358A	probably benign	Het
Wwc1	A	C	11: 35,870,796 (GRCm39)		probably null	Het
Yars2	G	T	16: 16,127,242 (GRCm39)	V436L	possibly damaging	Het
Zfp609	G	A	9: 65,604,512 (GRCm39)	Q1324*	probably null	Het
Zfp81	T	C	17: 33,553,774 (GRCm39)	T347A	probably benign	Het
Zgpat	T	C	2: 181,021,366 (GRCm39)	V292A	probably benign	Het

Other mutations in Tas2r130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Tas2r130	APN	6	131,607,234 (GRCm39)	missense	probably damaging	1.00
IGL01412:Tas2r130	APN	6	131,607,473 (GRCm39)	nonsense	probably null
IGL01554:Tas2r130	APN	6	131,607,046 (GRCm39)	missense	probably benign	0.44
IGL01789:Tas2r130	APN	6	131,607,118 (GRCm39)	missense	probably damaging	1.00
R1552:Tas2r130	UTSW	6	131,607,130 (GRCm39)	missense	probably benign	0.00
R1848:Tas2r130	UTSW	6	131,607,560 (GRCm39)	missense	probably benign	0.00
R2020:Tas2r130	UTSW	6	131,607,732 (GRCm39)	missense	probably damaging	1.00
R2060:Tas2r130	UTSW	6	131,607,780 (GRCm39)	missense	probably benign	0.00
R2518:Tas2r130	UTSW	6	131,607,036 (GRCm39)	missense	probably damaging	0.98
R3810:Tas2r130	UTSW	6	131,607,792 (GRCm39)	start codon destroyed	probably null	1.00
R5666:Tas2r130	UTSW	6	131,607,342 (GRCm39)	missense	possibly damaging	0.82
R6225:Tas2r130	UTSW	6	131,607,547 (GRCm39)	small deletion	probably benign
R7180:Tas2r130	UTSW	6	131,607,211 (GRCm39)	missense	probably benign	0.00
R7284:Tas2r130	UTSW	6	131,607,270 (GRCm39)	missense	probably benign	0.02
R7385:Tas2r130	UTSW	6	131,607,226 (GRCm39)	missense	probably benign
R8424:Tas2r130	UTSW	6	131,607,790 (GRCm39)	missense	probably benign	0.00
R8845:Tas2r130	UTSW	6	131,607,642 (GRCm39)	missense	probably benign	0.03
R9164:Tas2r130	UTSW	6	131,606,975 (GRCm39)	missense	probably damaging	0.97
R9409:Tas2r130	UTSW	6	131,607,660 (GRCm39)	missense	probably damaging	1.00
R9757:Tas2r130	UTSW	6	131,607,296 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTACAGCTAATTCACTCTCTGGC -3'
(R):5'- TGGCATGTGTGATTATCTCCC -3'

Sequencing Primer
(F):5'- CACTCTCTGGCATAAAGTAGCTGG -3'
(R):5'- CCCAGTCACTGAAAATCTGAGTGATG -3'

Posted On

2022-08-09