Mutagenetix > Incidental Mutation

Incidental Mutation 'R1352:Tas2r139'

156698

Institutional Source

Beutler Lab

Gene Symbol

Tas2r139

Ensembl Gene

ENSMUSG00000047102

Gene Name

taste receptor, type 2, member 139

Synonyms

mt2r34, Tas2r39

MMRRC Submission

039417-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42117870-42118829 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 42117874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 2 (A2V)

Ref Sequence

ENSEMBL: ENSMUSP00000062919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057686]

AlphaFold

Q7TQA5

Predicted Effect

probably benign
Transcript: ENSMUST00000057686
AA Change: A2V

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000062919
Gene: ENSMUSG00000047102
AA Change: A2V

Domain	Start	End	E-Value	Type
Pfam:TAS2R	13	311	2.5e-64	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a bitter taste receptor that detects green tea catechins, soy isoflavones, and theaflavins. The encoded protein is gustducin-linked and may activate alpha gustducin. This gene is intronless. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,784,892 (GRCm39)		probably benign	Het
Acbd3	T	A	1: 180,566,095 (GRCm39)	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,362,830 (GRCm39)	V142A	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,258,415 (GRCm39)	S138P	probably damaging	Het
Cbln4	T	C	2: 171,879,376 (GRCm39)	K171E	possibly damaging	Het
Cd226	A	G	18: 89,265,298 (GRCm39)	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,533,595 (GRCm39)	D333G	probably damaging	Het
Dst	T	A	1: 34,268,329 (GRCm39)		probably null	Het
Eml5	A	G	12: 98,797,262 (GRCm39)		probably benign	Het
Evx1	T	C	6: 52,293,995 (GRCm39)	S388P	probably damaging	Het
Gins1	T	A	2: 150,772,768 (GRCm39)	L177*	probably null	Het
Gm5422	A	C	10: 31,126,731 (GRCm39)		noncoding transcript	Het
Gmppa	T	A	1: 75,417,178 (GRCm39)	D204E	probably benign	Het
Ifna7	A	C	4: 88,734,897 (GRCm39)	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,348,425 (GRCm39)	D131G	probably benign	Het
Itpr2	T	C	6: 146,013,240 (GRCm39)	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,902,035 (GRCm39)	H4N	probably benign	Het
Kng1	G	T	16: 22,886,444 (GRCm39)		probably null	Het
Lrrfip1	C	T	1: 91,043,089 (GRCm39)	A498V	probably benign	Het
Myo3a	T	A	2: 22,328,486 (GRCm39)		probably null	Het
Nkapl	T	C	13: 21,652,230 (GRCm39)	R128G	unknown	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5bw2	A	T	7: 6,573,782 (GRCm39)	Y264F	probably benign	Het
Prlr	T	C	15: 10,328,872 (GRCm39)	V449A	probably benign	Het
Rbm44	C	A	1: 91,080,764 (GRCm39)	D317E	probably damaging	Het
Sirt5	T	C	13: 43,548,283 (GRCm39)	S310P	probably damaging	Het
Spice1	T	C	16: 44,207,185 (GRCm39)	S856P	probably damaging	Het
Sptan1	T	A	2: 29,911,199 (GRCm39)		probably benign	Het
St6gal1	A	G	16: 23,140,401 (GRCm39)	K191E	probably damaging	Het
Stat6	A	T	10: 127,486,680 (GRCm39)	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,371 (GRCm39)	D253G	probably damaging	Het
Tfpi2	A	G	6: 3,968,281 (GRCm39)	L15P	probably damaging	Het
Topbp1	T	A	9: 103,224,207 (GRCm39)	C1445S	probably benign	Het
Trappc11	A	T	8: 47,978,081 (GRCm39)	H195Q	possibly damaging	Het
Ttc21a	A	T	9: 119,783,718 (GRCm39)	E600V	possibly damaging	Het
Ttn	T	C	2: 76,677,041 (GRCm39)		probably benign	Het
Vmn2r88	T	C	14: 51,656,007 (GRCm39)	S740P	probably damaging	Het
Wrn	A	C	8: 33,784,944 (GRCm39)	V476G	probably benign	Het
Zdbf2	C	A	1: 63,342,212 (GRCm39)	A197E	probably damaging	Het

Other mutations in Tas2r139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Tas2r139	APN	6	42,118,055 (GRCm39)	missense	probably damaging	1.00
IGL01593:Tas2r139	APN	6	42,117,891 (GRCm39)	missense	probably benign	0.01
IGL01835:Tas2r139	APN	6	42,118,366 (GRCm39)	missense	probably benign	0.21
IGL02990:Tas2r139	APN	6	42,118,038 (GRCm39)	missense	probably damaging	1.00
R0517:Tas2r139	UTSW	6	42,118,425 (GRCm39)	missense	probably damaging	0.98
R1106:Tas2r139	UTSW	6	42,118,479 (GRCm39)	missense	probably benign	0.36
R4352:Tas2r139	UTSW	6	42,118,689 (GRCm39)	missense	probably damaging	1.00
R4632:Tas2r139	UTSW	6	42,118,432 (GRCm39)	missense	probably damaging	1.00
R4785:Tas2r139	UTSW	6	42,118,218 (GRCm39)	missense	probably damaging	1.00
R4947:Tas2r139	UTSW	6	42,118,500 (GRCm39)	missense	possibly damaging	0.82
R5888:Tas2r139	UTSW	6	42,118,430 (GRCm39)	missense	probably damaging	1.00
R6796:Tas2r139	UTSW	6	42,118,526 (GRCm39)	missense	probably damaging	1.00
R8058:Tas2r139	UTSW	6	42,118,753 (GRCm39)	missense	probably benign	0.01
R8075:Tas2r139	UTSW	6	42,118,154 (GRCm39)	missense	probably benign	0.00
R8319:Tas2r139	UTSW	6	42,118,720 (GRCm39)	missense	probably benign	0.01
R9087:Tas2r139	UTSW	6	42,118,168 (GRCm39)	missense	probably damaging	1.00
R9185:Tas2r139	UTSW	6	42,118,099 (GRCm39)	missense	probably benign	0.25
R9803:Tas2r139	UTSW	6	42,118,066 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCATACAGGTGCTTTCCTGG -3'
(R):5'- TGCTGAAGAACATGCTGGAGCTG -3'

Sequencing Primer
(F):5'- TGGATTTCTGGTCCACAGTAAC -3'
(R):5'- GGCCTATTCTGGATACACTCAGAAG -3'

Posted On

2014-02-11