Mutagenetix > Incidental Mutation

Incidental Mutation 'R4889:Tas2r114'

377193

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

042494-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131666097-131667026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131666758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 90 (I90K)

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: I90K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
AA Change: I90K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (59/60)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ado	G	C	10: 67,384,135 (GRCm39)	R157G	probably benign	Het
Akap12	C	A	10: 4,306,535 (GRCm39)	A1115E	probably damaging	Het
Ankhd1	A	G	18: 36,711,787 (GRCm39)	M196V	probably null	Het
Appl2	G	A	10: 83,476,922 (GRCm39)	T34I	probably damaging	Het
Arhgap21	T	C	2: 20,885,279 (GRCm39)	S472G	probably benign	Het
Asmt	G	T	X: 169,110,764 (GRCm39)	R250L	possibly damaging	Het
Baz2b	A	T	2: 59,767,070 (GRCm39)	I870N	probably damaging	Het
Card11	T	C	5: 140,871,700 (GRCm39)	Q667R	possibly damaging	Het
Cercam	A	G	2: 29,771,845 (GRCm39)	D555G	probably damaging	Het
Cop1	A	T	1: 159,112,159 (GRCm39)	R284S	probably damaging	Het
Cr2	A	G	1: 194,858,893 (GRCm39)	V9A	possibly damaging	Het
Ctsm	A	G	13: 61,686,215 (GRCm39)	F106S	probably damaging	Het
Dhx9	A	T	1: 153,356,895 (GRCm39)	L118Q	probably damaging	Het
Dnah5	G	T	15: 28,235,938 (GRCm39)	C355F	probably benign	Het
Dock1	C	A	7: 134,346,705 (GRCm39)	N212K	probably benign	Het
Efemp2	T	A	19: 5,525,148 (GRCm39)	L18Q	probably null	Het
Flvcr1	A	G	1: 190,757,764 (GRCm39)	L176P	probably damaging	Het
Gm16505	A	T	13: 3,411,125 (GRCm39)		noncoding transcript	Het
Gm6457	A	T	18: 14,703,501 (GRCm39)		noncoding transcript	Het
Gnptab	A	G	10: 88,269,775 (GRCm39)	N826S	probably benign	Het
Hdc	T	G	2: 126,436,053 (GRCm39)	N606T	probably benign	Het
Itga3	T	C	11: 94,959,127 (GRCm39)	D113G	probably benign	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Mkrn1	A	T	6: 39,396,939 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,723,238 (GRCm39)	V720A	probably damaging	Het
Nkx3-1	G	A	14: 69,428,447 (GRCm39)		probably null	Het
Npat	T	C	9: 53,473,507 (GRCm39)	I433T	probably benign	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or10ag53	A	T	2: 87,082,991 (GRCm39)	I237F	probably damaging	Het
Or1l4	A	G	2: 37,092,057 (GRCm39)	Y268C	probably damaging	Het
Or5m12	C	T	2: 85,735,092 (GRCm39)	C102Y	possibly damaging	Het
Pde6c	T	A	19: 38,121,599 (GRCm39)	M69K	probably benign	Het
Pde7b	T	C	10: 20,423,823 (GRCm39)	T18A	probably benign	Het
Plcz1	T	C	6: 139,953,474 (GRCm39)	K381R	probably benign	Het
Ppfia4	A	C	1: 134,228,252 (GRCm39)	F1095V	probably damaging	Het
Sfxn3	T	C	19: 45,038,254 (GRCm39)	F78S	probably damaging	Het
Sim1	A	T	10: 50,857,420 (GRCm39)	Y390F	probably benign	Het
Slc25a31	A	G	3: 40,675,975 (GRCm39)	I174V	probably benign	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Slco1b2	T	G	6: 141,602,469 (GRCm39)		probably benign	Het
Smarca5	C	A	8: 81,431,326 (GRCm39)	D964Y	possibly damaging	Het
Sptbn2	T	A	19: 4,779,458 (GRCm39)	S338R	possibly damaging	Het
Srcap	T	C	7: 127,137,719 (GRCm39)	V1023A	possibly damaging	Het
Syt16	A	G	12: 74,176,269 (GRCm39)	E46G	probably damaging	Het
Tlx1	G	T	19: 45,139,418 (GRCm39)	D22Y	probably damaging	Het
Vamp8	G	A	6: 72,362,522 (GRCm39)	L93F	possibly damaging	Het
Vill	T	C	9: 118,892,409 (GRCm39)	S347P	possibly damaging	Het
Zfp974	A	G	7: 27,610,244 (GRCm39)	Y494H	possibly damaging	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
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
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'- TAACCATCTTCGCAACAACTGG -3'
(R):5'- TGGGCATTGTAGGGAACACATTC -3'

Sequencing Primer
(F):5'- TCGCAACAACTGGGAAAGAAAATAGC -3'
(R):5'- GGGAACACATTCATTGCACTTG -3'

Posted On

2016-03-17