Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Tas2r114'

486673

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

044208-MU

Accession Numbers

Essential gene?

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

Stock #

R6038 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131666097-131667026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131666444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 195 (C195S)

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

possibly damaging
Transcript: ENSMUST00000080619
AA Change: C195S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
AA Change: C195S

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

Meta Mutation Damage Score

0.2187

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (65/65)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Akirin1	A	G	4: 123,643,956 (GRCm39)	M1T	probably null	Het
Antxr1	C	A	6: 87,263,982 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,987,388 (GRCm39)	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gm29587	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Larp1	A	G	11: 57,932,431 (GRCm39)	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Nrm	T	C	17: 36,172,397 (GRCm39)	S41P	possibly damaging	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,913,095 (GRCm39)		probably null	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	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
R5258:Tas2r114	UTSW	6	131,666,504 (GRCm39)	missense	probably benign	0.03
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'- GAATGCAGTTGTCAAACCAAACATG -3'
(R):5'- GTGCTTGCTTATCTCATGGC -3'

Sequencing Primer
(F):5'- CAAGTTGCTTTCTGGGATTAACAGAC -3'
(R):5'- ATGGCTATTTTCTTTCCCAGTTGTTG -3'

Posted On

2017-08-16