Mutagenetix > Incidental Mutation

Incidental Mutation 'R5258:Tas2r114'

401234

Institutional Source

Beutler Lab

Gene Symbol

Tas2r114

Ensembl Gene

ENSMUSG00000063478

Gene Name

taste receptor, type 2, member 114

Synonyms

mt2r46, mGR14, T2R14, Tas2r14

MMRRC Submission

042828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R5258 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131666097-131667026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131666504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 175 (I175F)

Ref Sequence

ENSEMBL: ENSMUSP00000079453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053652] [ENSMUST00000072404] [ENSMUST00000080619]

AlphaFold

Q7M722

Predicted Effect

probably benign
Transcript: ENSMUST00000053652

SMART Domains

Protein: ENSMUSP00000058006
Gene: ENSMUSG00000051153

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	298	9.4e-109	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072404

SMART Domains

Protein: ENSMUSP00000072237
Gene: ENSMUSG00000061977

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	298	8.3e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080619
AA Change: I175F

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
AA Change: I175F

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	298	8.1e-104	PFAM

Meta Mutation Damage Score

0.0776

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,266 (GRCm39)	D233V	probably damaging	Het
Abca13	A	T	11: 9,199,684 (GRCm39)	T128S	possibly damaging	Het
Abca16	T	G	7: 120,035,992 (GRCm39)		probably null	Het
Abcc8	T	C	7: 45,757,811 (GRCm39)	I1313V	probably benign	Het
Abcc8	C	T	7: 45,806,572 (GRCm39)	V379I	probably benign	Het
Acp3	T	C	9: 104,186,674 (GRCm39)	I266V	probably benign	Het
Asf1b	C	T	8: 84,695,896 (GRCm39)	T179I	probably benign	Het
B3gnt7	A	G	1: 86,233,287 (GRCm39)	K61E	possibly damaging	Het
Card11	G	A	5: 140,862,180 (GRCm39)	P1039L	possibly damaging	Het
Cd1d2	C	G	3: 86,894,954 (GRCm39)	R147G	possibly damaging	Het
Cfap68	T	C	9: 50,675,633 (GRCm39)		probably benign	Het
Cfap69	T	C	5: 5,654,271 (GRCm39)		probably null	Het
Ddx46	T	C	13: 55,800,837 (GRCm39)	F331L	possibly damaging	Het
Dkk4	C	A	8: 23,117,031 (GRCm39)	L215I	probably damaging	Het
Dnhd1	C	T	7: 105,323,244 (GRCm39)	T584I	probably benign	Het
Dock3	T	C	9: 106,874,124 (GRCm39)	Y449C	probably damaging	Het
Foxi2	C	T	7: 135,012,256 (GRCm39)	T48M	probably benign	Het
Gm12887	T	C	4: 121,472,897 (GRCm39)	K82E	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Igkv4-80	T	A	6: 68,993,811 (GRCm39)	T27S	probably benign	Het
Invs	A	G	4: 48,396,374 (GRCm39)	D349G	possibly damaging	Het
Lbhd1	A	G	19: 8,861,453 (GRCm39)		probably benign	Het
Lipo3	T	A	19: 33,591,243 (GRCm39)		probably benign	Het
Llgl1	G	C	11: 60,602,389 (GRCm39)		probably null	Het
Lyzl6	T	A	11: 103,525,899 (GRCm39)	I74F	probably damaging	Het
Map3k6	T	C	4: 132,974,953 (GRCm39)	V662A	possibly damaging	Het
Megf8	T	A	7: 25,047,751 (GRCm39)	F1645I	possibly damaging	Het
Mfsd4b2	T	A	10: 39,798,017 (GRCm39)	M113L	probably benign	Het
Mib1	G	A	18: 10,795,856 (GRCm39)		probably null	Het
Mrps6	T	A	16: 91,896,543 (GRCm39)	V36E	probably damaging	Het
Nhsl1	C	A	10: 18,400,070 (GRCm39)	S432*	probably null	Het
Nle1	T	C	11: 82,795,772 (GRCm39)	D225G	probably damaging	Het
Nlrp4c	T	A	7: 6,069,622 (GRCm39)	S508T	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5d37	A	T	2: 87,923,762 (GRCm39)	Y173N	probably benign	Het
P2rx7	A	G	5: 122,819,066 (GRCm39)	E496G	probably damaging	Het
Prdm16	A	T	4: 154,451,671 (GRCm39)	D179E	possibly damaging	Het
Psca	A	T	15: 74,588,240 (GRCm39)	I56F	probably damaging	Het
Ptprg	A	G	14: 12,142,431 (GRCm38)	T361A	probably benign	Het
Ptrhd1	A	G	12: 4,286,481 (GRCm39)	Y124C	probably damaging	Het
Sesn1	C	T	10: 41,770,984 (GRCm39)	P172S	probably benign	Het
Sspo	T	C	6: 48,453,428 (GRCm39)	V2872A	probably damaging	Het
Stard9	T	A	2: 120,529,824 (GRCm39)	L2027H	probably damaging	Het
Tex2	T	A	11: 106,458,585 (GRCm39)		probably benign	Het
Tfdp1	C	T	8: 13,419,529 (GRCm39)	T86M	possibly damaging	Het
Trav14-1	C	T	14: 53,791,730 (GRCm39)	H27Y	probably benign	Het
Trim24	A	T	6: 37,896,335 (GRCm39)	Q264L	probably benign	Het
Vmn2r90	A	G	17: 17,933,114 (GRCm39)	I225V	probably benign	Het
Vps13b	A	G	15: 35,794,567 (GRCm39)	T2326A	possibly damaging	Het
Zfp354b	A	C	11: 50,813,917 (GRCm39)	I336S	probably benign	Het
Zfp407	C	T	18: 84,334,051 (GRCm39)	V1761I	probably damaging	Het
Zfp958	A	T	8: 4,678,456 (GRCm39)	E160D	probably benign	Het

Other mutations in Tas2r114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Tas2r114	APN	6	131,666,664 (GRCm39)	nonsense	probably null
IGL02971:Tas2r114	APN	6	131,666,243 (GRCm39)	missense	probably benign	0.00
R0561:Tas2r114	UTSW	6	131,666,758 (GRCm39)	missense	probably benign	0.30
R3034:Tas2r114	UTSW	6	131,666,611 (GRCm39)	missense	probably benign	0.15
R3687:Tas2r114	UTSW	6	131,666,231 (GRCm39)	missense	probably benign	0.25
R4411:Tas2r114	UTSW	6	131,666,585 (GRCm39)	missense	probably benign	0.06
R4826:Tas2r114	UTSW	6	131,666,800 (GRCm39)	missense	probably damaging	0.99
R4889:Tas2r114	UTSW	6	131,666,758 (GRCm39)	missense	probably damaging	0.96
R5084:Tas2r114	UTSW	6	131,666,251 (GRCm39)	nonsense	probably null
R6038:Tas2r114	UTSW	6	131,666,444 (GRCm39)	missense	possibly damaging	0.89
R6038:Tas2r114	UTSW	6	131,666,444 (GRCm39)	missense	possibly damaging	0.89
R6499:Tas2r114	UTSW	6	131,666,099 (GRCm39)	makesense	probably null
R7164:Tas2r114	UTSW	6	131,666,728 (GRCm39)	missense	possibly damaging	0.74
R7276:Tas2r114	UTSW	6	131,666,310 (GRCm39)	missense	probably damaging	0.96
R7745:Tas2r114	UTSW	6	131,666,401 (GRCm39)	missense	probably damaging	1.00
R7851:Tas2r114	UTSW	6	131,666,888 (GRCm39)	missense	probably damaging	1.00
R8002:Tas2r114	UTSW	6	131,666,102 (GRCm39)	missense	probably damaging	1.00
R8901:Tas2r114	UTSW	6	131,666,914 (GRCm39)	missense	probably damaging	0.99
R9297:Tas2r114	UTSW	6	131,666,287 (GRCm39)	missense	probably damaging	0.96
R9380:Tas2r114	UTSW	6	131,666,381 (GRCm39)	missense	probably benign	0.00
R9402:Tas2r114	UTSW	6	131,666,894 (GRCm39)	missense	possibly damaging	0.49
R9473:Tas2r114	UTSW	6	131,666,104 (GRCm39)	missense	probably benign
R9513:Tas2r114	UTSW	6	131,666,746 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTTGCTTTCTGGGATTAACAGAC -3'
(R):5'- GTCTGGTTTGCCACTAGTCTCAG -3'

Sequencing Primer
(F):5'- CATTTATGGTAATACCCATGAAATGC -3'
(R):5'- CCTGAAGATAGCAAATTTTTCCCAC -3'

Posted On

2016-07-06