Mutagenetix > Incidental Mutation

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, Tas2r30, STC 7-4

MMRRC Submission

040422-MU

Accession Numbers

Essential gene?

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

Stock #

R2518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131606855-131607793 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131607036 bp (GRCm39)

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]

AlphaFold

P59530

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
Adam18	A	G	8: 25,127,157 (GRCm39)	C480R	probably damaging	Het
Aftph	G	T	11: 20,675,797 (GRCm39)	T604K	probably damaging	Het
Bivm	T	C	1: 44,168,775 (GRCm39)	V279A	probably damaging	Het
C2cd2	G	A	16: 97,723,286 (GRCm39)	T77I	probably benign	Het
Ccdc146	T	C	5: 21,510,526 (GRCm39)	H527R	probably benign	Het
Cd226	A	G	18: 89,225,451 (GRCm39)	N116S	probably benign	Het
Cit	A	G	5: 116,125,105 (GRCm39)	K1612E	probably damaging	Het
Cmtr1	T	A	17: 29,900,954 (GRCm39)	Y663*	probably null	Het
Col3a1	T	A	1: 45,376,672 (GRCm39)		probably benign	Het
Copa	A	G	1: 171,947,468 (GRCm39)	N1095D	probably benign	Het
Cpne1	G	T	2: 155,915,891 (GRCm39)	A433E	probably damaging	Het
Cyfip1	C	T	7: 55,578,032 (GRCm39)	L1181F	probably damaging	Het
Dnajc6	T	A	4: 101,470,127 (GRCm39)	I220N	probably damaging	Het
Duxbl1	G	C	14: 25,988,172 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,335,760 (GRCm39)	R478H	probably benign	Het
Fam91a1	T	A	15: 58,322,449 (GRCm39)	S734T	possibly damaging	Het
Fut10	T	G	8: 31,726,495 (GRCm39)	S417A	probably benign	Het
Gm9945	C	T	11: 53,371,163 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,385,680 (GRCm39)	E934G	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Hdac5	A	G	11: 102,087,962 (GRCm39)	V949A	probably damaging	Het
Hdgfl1	G	T	13: 26,953,732 (GRCm39)	L114I	probably benign	Het
Ifi27l2b	T	A	12: 103,422,083 (GRCm39)	M94L	unknown	Het
Irs2	C	A	8: 11,055,352 (GRCm39)	A1027S	probably benign	Het
Itga2	A	T	13: 115,017,578 (GRCm39)	C111S	probably damaging	Het
Khdrbs1	T	C	4: 129,614,540 (GRCm39)	T338A	probably benign	Het
Klk1	T	C	7: 43,870,161 (GRCm39)		probably null	Het
Kmt2b	T	C	7: 30,275,493 (GRCm39)	N1822S	probably benign	Het
Lrig3	T	C	10: 125,830,310 (GRCm39)	I136T	probably benign	Het
Lyar	T	A	5: 38,385,276 (GRCm39)	D105E	probably benign	Het
Mat1a	T	A	14: 40,844,469 (GRCm39)	D366E	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,559,727 (GRCm39)	D1092E	probably benign	Het
Neb	T	A	2: 52,139,523 (GRCm39)	K95*	probably null	Het
Nectin4	A	G	1: 171,207,776 (GRCm39)	D56G	probably benign	Het
Nup58	A	T	14: 60,470,109 (GRCm39)	F334Y	probably damaging	Het
Or14a256	A	T	7: 86,265,395 (GRCm39)	F153I	probably benign	Het
Or9i1	A	G	19: 13,839,673 (GRCm39)	N172S	probably damaging	Het
Pde8a	C	A	7: 80,967,170 (GRCm39)	T437K	probably benign	Het
Ppp1r3a	A	T	6: 14,719,377 (GRCm39)	N512K	possibly damaging	Het
Pramel12	A	G	4: 143,144,473 (GRCm39)	Q273R	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,068 (GRCm39)	D330G	probably damaging	Het
Ren1	G	A	1: 133,287,862 (GRCm39)	A399T	probably damaging	Het
Rnft2	G	T	5: 118,332,670 (GRCm39)		probably benign	Het
Septin14	A	T	5: 129,776,099 (GRCm39)	S27T	probably benign	Het
Shld1	T	A	2: 132,592,447 (GRCm39)	S165T	probably damaging	Het
Shox2	T	C	3: 66,885,692 (GRCm39)	K128E	possibly damaging	Het
Skint1	T	C	4: 111,882,678 (GRCm39)	W241R	probably benign	Het
Slc24a4	T	A	12: 102,188,310 (GRCm39)	H134Q	probably benign	Het
Slc25a36	A	T	9: 96,961,124 (GRCm39)	L165Q	possibly damaging	Het
Slc35f1	A	G	10: 52,949,630 (GRCm39)	I240V	probably benign	Het
Slc66a1	A	G	4: 139,029,810 (GRCm39)	F74L	probably damaging	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tarbp2	A	G	15: 102,426,992 (GRCm39)	E3G	possibly damaging	Het
Timm44	A	C	8: 4,316,588 (GRCm39)	C319G	probably null	Het
Tjap1	A	T	17: 46,571,021 (GRCm39)	N165K	probably damaging	Het
Tmem63b	A	G	17: 45,977,080 (GRCm39)	I429T	probably benign	Het
Trabd2b	A	T	4: 114,457,100 (GRCm39)	D339V	probably damaging	Het
Tst	T	C	15: 78,290,033 (GRCm39)	M1V	probably null	Het
Ube4a	A	T	9: 44,859,435 (GRCm39)	N335K	probably benign	Het
Vps54	C	T	11: 21,256,394 (GRCm39)	T633M	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp953	A	G	13: 67,496,003 (GRCm39)	Y13H	probably damaging	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
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
R9561:Tas2r130	UTSW	6	131,607,175 (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'- GGACGGATAATGATCGTGTCTTCC -3'
(R):5'- AACTTGGTCATGCTGTTCCC -3'

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

Posted On

2014-12-04