Mutagenetix > Incidental Mutations

Incidental Mutation 'R7276:Tas2r114'

565576

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R7276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131689134-131690063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131689347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 239 (I239M)

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 damaging
Transcript: ENSMUST00000080619
AA Change: I239M

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
AA Change: I239M

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

Coding Region Coverage

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

Validation Efficiency

100% (74/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930455H04Rik	T	C	3: 116,968,578	V26A	unknown	Het
4930546C10Rik	C	T	18: 68,950,022	W40*	probably null	Het
Abcc5	T	C	16: 20,376,508		probably null	Het
Adamts18	T	A	8: 113,775,264	M322L	probably damaging	Het
Ankrd44	T	A	1: 54,735,080	N406I	probably benign	Het
Arhgap35	T	G	7: 16,564,568	T191P	probably damaging	Het
Atg3	G	A	16: 45,162,442	E37K	possibly damaging	Het
Bbs1	A	T	19: 4,897,710		probably null	Het
BC048562	A	G	9: 108,445,236	N60D	probably damaging	Het
Btnl9	T	A	11: 49,175,790	I335F	probably benign	Het
C7	A	T	15: 5,011,967	C486S	probably damaging	Het
Cchcr1	C	A	17: 35,529,134	Q634K	possibly damaging	Het
Cd93	A	T	2: 148,441,740	V562E	probably damaging	Het
Cript	T	A	17: 87,034,268	Y50*	probably null	Het
Dnah14	T	A	1: 181,685,807	F1908L	probably benign	Het
Dnah5	A	G	15: 28,367,838	N2790D	probably damaging	Het
Eif3h	C	A	15: 51,865,321		probably null	Het
Ffar3	C	G	7: 30,855,848	V16L	possibly damaging	Het
Gcn1l1	C	T	5: 115,611,060	R1884W	probably damaging	Het
Gm13128	A	G	4: 144,332,646	E309G	possibly damaging	Het
Gpatch1	T	A	7: 35,297,496	M426L	probably benign	Het
Hcn2	T	A	10: 79,729,100	Y449N	possibly damaging	Het
Hdac10	T	C	15: 89,128,285	T32A	probably benign	Het
Hykk	T	C	9: 54,946,218	Y275H	probably damaging	Het
Igfn1	G	C	1: 135,998,638	P25A	possibly damaging	Het
Jph1	T	C	1: 17,092,042	Q132R	probably damaging	Het
Kat2b	T	A	17: 53,624,422	D149E	probably damaging	Het
Knl1	A	T	2: 119,071,686	K1289N	probably damaging	Het
Lrrc37a	G	A	11: 103,456,746	S3041L	unknown	Het
Mtus2	C	T	5: 148,076,558	R54C	probably benign	Het
Myo1d	A	T	11: 80,693,072	I38N	probably damaging	Het
Nasp	A	G	4: 116,614,349	S94P	probably damaging	Het
Nfat5	C	A	8: 107,367,099	N657K	probably benign	Het
Ngfr	A	G	11: 95,574,344	L226P	probably benign	Het
Nos1	T	C	5: 117,910,238	S703P	probably damaging	Het
Nsun7	A	G	5: 66,277,141	D275G	probably benign	Het
Oas1d	A	G	5: 120,916,881	N172S	possibly damaging	Het
Olfr1201	T	A	2: 88,794,681	F100I	probably damaging	Het
Olfr1390	T	A	11: 49,340,994	M154K	probably benign	Het
Olfr671	T	A	7: 104,975,650	M116L	possibly damaging	Het
Olfr749	A	G	14: 50,736,730	V144A	possibly damaging	Het
Papss1	A	G	3: 131,619,234	E484G	probably benign	Het
Pcdh15	A	G	10: 74,324,392	D447G	probably benign	Het
Phkg2	A	G	7: 127,582,386	E247G	possibly damaging	Het
Prelid2	T	C	18: 41,912,422	N141S	possibly damaging	Het
Psg18	T	C	7: 18,345,984	M431V	probably damaging	Het
Psmd12	A	T	11: 107,503,645	R397*	probably null	Het
Ralgds	G	A	2: 28,545,872	R503Q	probably damaging	Het
Rb1cc1	G	A	1: 6,249,192	C945Y	probably benign	Het
Rgs12	A	G	5: 35,026,371	D1026G	probably benign	Het
Scn7a	G	A	2: 66,757,162	P66S	probably damaging	Het
Skiv2l2	A	T	13: 112,914,439	Y201N	probably benign	Het
Supt16	T	C	14: 52,177,001	E448G	probably benign	Het
Syt16	C	T	12: 74,266,709	R470C	probably damaging	Het
Tecpr1	C	T	5: 144,217,020	W138*	probably null	Het
Tex101	T	C	7: 24,670,404	N45S	probably damaging	Het
Tmem2	A	G	19: 21,835,460	I1010V	probably benign	Het
Tmx1	C	A	12: 70,466,143	T275K	possibly damaging	Het
Trappc8	T	G	18: 20,818,091	I1434L	probably damaging	Het
Trappc9	G	T	15: 73,052,270	H208N	probably damaging	Het
Trcg1	T	A	9: 57,242,579	L478Q	probably damaging	Het
Trim42	G	T	9: 97,369,572	Y91*	probably null	Het
Vmn2r114	A	G	17: 23,290,960	S849P	probably damaging	Het
Vmn2r120	T	C	17: 57,524,881	T303A	probably benign	Het
Vmn2r13	A	G	5: 109,173,779	W351R	probably damaging	Het
Vmn2r53	T	C	7: 12,606,432	D38G	probably damaging	Het
Vsig8	C	A	1: 172,563,283	C411*	probably null	Het
Vwce	A	T	19: 10,664,174	T755S	possibly damaging	Het
Wwp1	T	C	4: 19,611,782	S897G	probably damaging	Het
Zfp111	C	A	7: 24,199,553	C212F	probably damaging	Het
Zfp385b	G	T	2: 77,450,280	H193N	probably damaging	Het
Zfp811	T	C	17: 32,798,781	E95G	probably benign	Het

Other mutations in Tas2r114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Tas2r114	APN	6	131689701	nonsense	probably null
IGL02971:Tas2r114	APN	6	131689280	missense	probably benign	0.00
R0561:Tas2r114	UTSW	6	131689795	missense	probably benign	0.30
R3034:Tas2r114	UTSW	6	131689648	missense	probably benign	0.15
R3687:Tas2r114	UTSW	6	131689268	missense	probably benign	0.25
R4411:Tas2r114	UTSW	6	131689622	missense	probably benign	0.06
R4826:Tas2r114	UTSW	6	131689837	missense	probably damaging	0.99
R4889:Tas2r114	UTSW	6	131689795	missense	probably damaging	0.96
R5084:Tas2r114	UTSW	6	131689288	nonsense	probably null
R5258:Tas2r114	UTSW	6	131689541	missense	probably benign	0.03
R6038:Tas2r114	UTSW	6	131689481	missense	possibly damaging	0.89
R6038:Tas2r114	UTSW	6	131689481	missense	possibly damaging	0.89
R6499:Tas2r114	UTSW	6	131689136	makesense	probably null
R7164:Tas2r114	UTSW	6	131689765	missense	possibly damaging	0.74
R7745:Tas2r114	UTSW	6	131689438	missense	probably damaging	1.00
R7851:Tas2r114	UTSW	6	131689925	missense	probably damaging	1.00
R8002:Tas2r114	UTSW	6	131689139	missense	probably damaging	1.00
R8901:Tas2r114	UTSW	6	131689951	missense	probably damaging	0.99
R9297:Tas2r114	UTSW	6	131689324	missense	probably damaging	0.96
R9380:Tas2r114	UTSW	6	131689418	missense	probably benign	0.00
R9402:Tas2r114	UTSW	6	131689931	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GTTGCAGTATCATTACAGAGCAC -3'
(R):5'- ACACATCTTGGCAGATCCACATG -3'

Sequencing Primer
(F):5'- GTATCATTACAGAGCACTGCTTCAGC -3'
(R):5'- AACTATGTTTTCACCAATGGGGG -3'

Posted On

2019-06-26