Mutagenetix > Incidental Mutations

Incidental Mutation 'R2518:Tas2r130'

254061

Institutional Source

Beutler Lab

Gene Symbol

Tas2r130

Ensembl Gene

ENSMUSG00000054497

Gene Name

taste receptor, type 2, member 130

Synonyms

T2R30, mt2r42, STC 7-4, Tas2r30

MMRRC Submission

040422-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131629823-131630912 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131630073 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 253 (I253K)

Ref Sequence

ENSEMBL: ENSMUSP00000063954 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067597
AA Change: I253K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063954
Gene: ENSMUSG00000054497
AA Change: I253K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	T	A	2: 132,750,527	S165T	probably damaging	Het
Adam18	A	G	8: 24,637,141	C480R	probably damaging	Het
Aftph	G	T	11: 20,725,797	T604K	probably damaging	Het
Bivm	T	C	1: 44,129,615	V279A	probably damaging	Het
C2cd2	G	A	16: 97,922,086	T77I	probably benign	Het
Ccdc146	T	C	5: 21,305,528	H527R	probably benign	Het
Cd226	A	G	18: 89,207,327	N116S	probably benign	Het
Cit	A	G	5: 115,987,046	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,681,980	Y663*	probably null	Het
Col3a1	T	A	1: 45,337,512		probably benign	Het
Copa	A	G	1: 172,119,901	N1095D	probably benign	Het
Cpne1	G	T	2: 156,073,971	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,928,284	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,612,930	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,987,748		probably benign	Het
Fam135b	C	T	15: 71,463,911	R478H	probably benign	Het
Fam91a1	T	A	15: 58,450,600	S734T	possibly damaging	Het
Fut10	T	G	8: 31,236,467	S417A	probably benign	Het
Gm9945	C	T	11: 53,480,336		probably benign	Het
Golga4	A	G	9: 118,556,612	E934G	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Hdac5	A	G	11: 102,197,136	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,769,749	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,455,824	M94L	unknown	Het
Irs2	C	A	8: 11,005,352	A1027S	probably benign	Het
Itga2	A	T	13: 114,881,042	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,720,747	T338A	probably benign	Het
Klk1	T	C	7: 44,220,737		probably null	Het
Kmt2b	T	C	7: 30,576,068	N1822S	probably benign	Het
Lrig3	T	C	10: 125,994,441	I136T	probably benign	Het
Lyar	T	A	5: 38,227,932	D105E	probably benign	Het
Mat1a	T	A	14: 41,122,512	D366E	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Neb	T	A	2: 52,249,511	K95*	probably null	Het
Nectin4	A	G	1: 171,380,208	D56G	probably benign	Het
Nupl1	A	T	14: 60,232,660	F334Y	probably damaging	Het
Olfr1502	A	G	19: 13,862,309	N172S	probably damaging	Het
Olfr294	A	T	7: 86,616,187	F153I	probably benign	Het
Pde8a	C	A	7: 81,317,422	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,378	N512K	possibly damaging	Het
Pqlc2	A	G	4: 139,302,499	F74L	probably damaging	Het
Pramef8	A	G	4: 143,417,903	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,067	D330G	probably damaging	Het
Ren1	G	A	1: 133,360,124	A399T	probably damaging	Het
Rnft2	G	T	5: 118,194,605		probably benign	Het
Sept14	A	T	5: 129,699,035	S27T	probably benign	Het
Shox2	T	C	3: 66,978,359	K128E	possibly damaging	Het
Skint1	T	C	4: 112,025,481	W241R	probably benign	Het
Slc24a4	T	A	12: 102,222,051	H134Q	probably benign	Het
Slc25a36	A	T	9: 97,079,071	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 53,073,534	I240V	probably benign	Het
Tab2	G	A	10: 7,907,481	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,518,557	E3G	possibly damaging	Het
Timm44	A	C	8: 4,266,588	C319G	probably null	Het
Tjap1	A	T	17: 46,260,095	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,666,154	I429T	probably benign	Het
Trabd2b	A	T	4: 114,599,903	D339V	probably damaging	Het
Tst	T	C	15: 78,405,833	M1V	probably null	Het
Ube4a	A	T	9: 44,948,137	N335K	probably benign	Het
Vps54	C	T	11: 21,306,394	T633M	probably benign	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp953	A	G	13: 67,347,939	Y13H	probably damaging	Het

Other mutations in Tas2r130

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Tas2r130	APN	6	131630271	missense	probably damaging	1.00
IGL01412:Tas2r130	APN	6	131630510	nonsense	probably null
IGL01554:Tas2r130	APN	6	131630083	missense	probably benign	0.44
IGL01789:Tas2r130	APN	6	131630155	missense	probably damaging	1.00
R1552:Tas2r130	UTSW	6	131630167	missense	probably benign	0.00
R1848:Tas2r130	UTSW	6	131630597	missense	probably benign	0.00
R2020:Tas2r130	UTSW	6	131630769	missense	probably damaging	1.00
R2060:Tas2r130	UTSW	6	131630817	missense	probably benign	0.00
R3810:Tas2r130	UTSW	6	131630829	start codon destroyed	probably null	1.00
R5666:Tas2r130	UTSW	6	131630379	missense	possibly damaging	0.82
R6225:Tas2r130	UTSW	6	131630584	small deletion	probably benign
R7180:Tas2r130	UTSW	6	131630248	missense	probably benign	0.00
R7284:Tas2r130	UTSW	6	131630307	missense	probably benign	0.02
R7385:Tas2r130	UTSW	6	131630263	missense	probably benign
R8424:Tas2r130	UTSW	6	131630827	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGACGGATAATGATCGTGTCTTCC -3'
(R):5'- AACTTGGTCATGCTGTTCCC -3'

Sequencing Primer
(F):5'- TTTCTTCAGATATGCTCATGATGC -3'
(R):5'- GGTCATGCTGTTCCCCTTTTCTG -3'

Posted On

2014-12-04