Mutagenetix > Incidental Mutation

Incidental Mutation 'R8901:Tas2r114'

679963

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

068758-MU

Accession Numbers

Essential gene?

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

Stock #

R8901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131666097-131667026 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131666914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 38 (N38I)

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: N38I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000079453
Gene: ENSMUSG00000063478
AA Change: N38I

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

Meta Mutation Damage Score

0.4088

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprm	T	C	11: 66,932,564 (GRCm39)	N115S	probably damaging	Het
Agbl5	T	C	5: 31,048,435 (GRCm39)	V169A	possibly damaging	Het
Ajuba	T	C	14: 54,807,830 (GRCm39)		probably benign	Het
Ankrd27	G	A	7: 35,332,243 (GRCm39)		probably benign	Het
Brat1	T	A	5: 140,698,608 (GRCm39)	M260K	probably benign	Het
Btbd6	G	T	12: 112,940,220 (GRCm39)		probably benign	Het
Cenpf	C	T	1: 189,394,248 (GRCm39)	G503S	probably benign	Het
Ces1e	C	T	8: 93,937,103 (GRCm39)	D323N	probably damaging	Het
Chrna5	T	C	9: 54,911,737 (GRCm39)	F75S	probably damaging	Het
Clmn	A	T	12: 104,747,211 (GRCm39)	S779T	probably benign	Het
Cntnap5c	T	A	17: 58,637,156 (GRCm39)	M1011K	probably benign	Het
Col11a2	A	T	17: 34,262,254 (GRCm39)	I164F	probably damaging	Het
Daw1	A	C	1: 83,183,643 (GRCm39)	K231T	possibly damaging	Het
Dnah5	T	G	15: 28,365,715 (GRCm39)	M2637R	possibly damaging	Het
Dsp	G	A	13: 38,365,155 (GRCm39)	V513M	probably damaging	Het
Eea1	T	G	10: 95,825,431 (GRCm39)	I42R	probably damaging	Het
Ehd4	A	T	2: 119,932,805 (GRCm39)	I207N	probably damaging	Het
F11	T	C	8: 45,701,851 (GRCm39)	T320A	probably benign	Het
Fhdc1	T	A	3: 84,352,874 (GRCm39)	M784L	probably benign	Het
Gm21411	G	A	4: 146,982,171 (GRCm39)	Q10*	probably null	Het
Gnao1	T	C	8: 94,694,687 (GRCm39)	M70T	probably benign	Het
Gtf2i	A	G	5: 134,324,389 (GRCm39)	F25S	probably damaging	Het
H2-T3	A	T	17: 36,498,252 (GRCm39)	D220E	probably damaging	Het
Hnrnpul2	T	G	19: 8,801,809 (GRCm39)	L339R	probably damaging	Het
Impg2	A	T	16: 56,072,528 (GRCm39)	D320V	probably damaging	Het
Itga2b	A	T	11: 102,351,630 (GRCm39)	L565Q	probably damaging	Het
Jph3	A	T	8: 122,457,561 (GRCm39)	Q67L	probably damaging	Het
Khnyn	T	C	14: 56,124,043 (GRCm39)	F99S	probably damaging	Het
Lhcgr	A	T	17: 89,063,030 (GRCm39)	L214Q	probably damaging	Het
Lix1l	C	A	3: 96,508,745 (GRCm39)		probably benign	Het
Mettl13	C	T	1: 162,373,814 (GRCm39)	V95I	possibly damaging	Het
Nod2	C	T	8: 89,390,437 (GRCm39)	T226M	probably damaging	Het
Nwd2	T	C	5: 63,963,685 (GRCm39)	W1090R	probably damaging	Het
Or2y1c	A	T	11: 49,361,035 (GRCm39)	D19V	probably damaging	Het
Pla2r1	C	A	2: 60,332,400 (GRCm39)	V481F		Het
Polr1b	T	A	2: 128,967,595 (GRCm39)	V996E	probably damaging	Het
Ppfia3	T	A	7: 44,991,141 (GRCm39)	R1027W	probably damaging	Het
Pramel21	A	T	4: 143,343,677 (GRCm39)	I326F	probably benign	Het
Rap1gds1	T	C	3: 138,663,305 (GRCm39)	D298G	probably damaging	Het
Rlf	T	C	4: 121,004,010 (GRCm39)	T1767A	possibly damaging	Het
Scn3a	C	T	2: 65,352,252 (GRCm39)	V353M	probably benign	Het
Setd1b	T	C	5: 123,299,114 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,646,799 (GRCm39)	V19A	probably benign	Het
Smarcal1	T	C	1: 72,624,939 (GRCm39)	S29P	possibly damaging	Het
Sntb2	T	C	8: 107,737,975 (GRCm39)	F508L	possibly damaging	Het
Speer4a3	CTTT	C	5: 26,155,857 (GRCm39)		probably benign	Het
Syt15	G	T	14: 33,948,028 (GRCm39)	R291L	probably damaging	Het
Tg	T	A	15: 66,557,184 (GRCm39)	N948K	probably damaging	Het
Tmem115	A	G	9: 107,411,993 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,818,146 (GRCm39)	D175N	probably benign	Het
Txk	T	A	5: 72,858,050 (GRCm39)	Y398F	probably damaging	Het
Wdr36	C	A	18: 32,980,013 (GRCm39)	T246K	probably damaging	Het
Wdr43	A	T	17: 71,932,461 (GRCm39)	R113S	probably benign	Het
Ybx1	T	C	4: 119,138,785 (GRCm39)	Y239C	probably 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
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
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
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'- TGGCAAACCAGACATTCAATTG -3'
(R):5'- TGAAGGGATCTCCATGAAGACC -3'

Sequencing Primer
(F):5'- TGACAGGAGACAGCAACT -3'
(R):5'- AGCCACTCTTTTATTGAACAGC -3'

Posted On

2021-08-31