Mutagenetix > Incidental Mutations

Incidental Mutation 'R8412:Tas1r1'

652729

Institutional Source

Beutler Lab

Gene Symbol

Tas1r1

Ensembl Gene

ENSMUSG00000028950

Gene Name

taste receptor, type 1, member 1

Synonyms

TR1, T1r1, Gpr70, T1R1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8412 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152027914-152038568 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152032576 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 200 (I200M)

Ref Sequence

ENSEMBL: ENSMUSP00000030792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030792] [ENSMUST00000066715] [ENSMUST00000131935] [ENSMUST00000155389]

Predicted Effect

probably benign
Transcript: ENSMUST00000030792
AA Change: I200M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: I200M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	75	456	1.7e-69	PFAM
Pfam:NCD3G	494	546	2.1e-15	PFAM
Pfam:7tm_3	578	815	3.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066715

SMART Domains

Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
BTB	26	119	1.35e-21	SMART
ZnF_C2H2	284	306	1.64e-1	SMART
ZnF_C2H2	312	332	2.06e1	SMART
ZnF_C2H2	343	365	5.99e-4	SMART
ZnF_C2H2	371	394	9.58e-3	SMART
ZnF_C2H2	400	423	2.49e-1	SMART
ZnF_C2H2	429	452	2.57e-3	SMART
ZnF_C2H2	458	480	9.73e-4	SMART
ZnF_C2H2	486	508	3.21e-4	SMART
ZnF_C2H2	514	537	1.67e-2	SMART
ZnF_C2H2	543	565	1.95e-3	SMART
ZnF_C2H2	571	593	5.67e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131935

SMART Domains

Protein: ENSMUSP00000116423
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
BTB	26	119	1.35e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155389

SMART Domains

Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
BTB	26	119	1.35e-21	SMART
ZnF_C2H2	284	306	1.64e-1	SMART
ZnF_C2H2	312	332	2.06e1	SMART
ZnF_C2H2	343	365	5.99e-4	SMART
ZnF_C2H2	371	394	9.58e-3	SMART
low complexity region	403	418	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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 G protein-coupled receptor and is a component of the heterodimeric amino acid taste receptor T1R1+3. The T1R1+3 receptor responds to L-amino acids but not to D-enantiomers or other compounds. Most amino acids that are perceived as sweet activate T1R1+3, and this activation is strictly dependent on an intact T1R1+3 heterodimer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygous mutant mice show diminished behavioral and nervous responses to umami tastants. Response to sweet tastants is unimpaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	T	A	1: 184,033,159	R234S	probably damaging	Het
Ace	T	A	11: 105,979,266	F806Y	probably benign	Het
Ak8	A	G	2: 28,739,631	T286A	probably benign	Het
Apba2	T	A	7: 64,745,798	F674Y	probably damaging	Het
Apob	A	G	12: 8,008,069	I2184V	probably benign	Het
Arhgap23	C	T	11: 97,466,028	P884L	probably benign	Het
Atg2a	T	C	19: 6,244,524	L90P	probably damaging	Het
Bhmt2	T	A	13: 93,662,312	I334F	possibly damaging	Het
Bmi1	C	T	2: 18,684,303	T266I	probably damaging	Het
Cdh26	A	G	2: 178,462,724	I301V	probably damaging	Het
Cenpx	A	T	11: 120,711,732	H68Q	unknown	Het
Cnot10	T	C	9: 114,610,670	R524G	probably benign	Het
Cnpy1	A	T	5: 28,209,208	Y22*	probably null	Het
Csmd3	C	T	15: 47,636,398	R2114H		Het
Defa29	T	A	8: 21,326,046	T102S	probably benign	Het
Fras1	T	C	5: 96,596,852	I582T	probably benign	Het
Gm14295	G	A	2: 176,809,629	C304Y	probably damaging	Het
Gucy2d	T	C	7: 98,443,839	V141A	possibly damaging	Het
Ifi47	A	C	11: 49,095,598	Q64P	probably damaging	Het
Irx3	G	T	8: 91,800,400	S225R	possibly damaging	Het
Itpr1	A	G	6: 108,363,620	H289R	probably benign	Het
Lamc3	A	G	2: 31,912,116	D512G	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Med23	C	A	10: 24,908,734	F1200L	probably benign	Het
Ndst4	A	T	3: 125,570,790	D372V	possibly damaging	Het
Nob1	T	A	8: 107,421,598	K71*	probably null	Het
Ntrk3	A	G	7: 78,356,149	I488T	probably benign	Het
Pds5b	G	T	5: 150,719,959	C82F	probably damaging	Het
Pkd1l3	T	A	8: 109,633,390	V969E	possibly damaging	Het
Ppme1	A	T	7: 100,335,091	N307K	probably benign	Het
Pus7l	C	T	15: 94,527,975	C515Y	probably benign	Het
Rpp21	T	A	17: 36,257,699	H22L	possibly damaging	Het
Scamp3	T	C	3: 89,181,218	F244L	probably damaging	Het
Scgb1b7	A	T	7: 31,712,954	K52*	probably null	Het
Slc12a3	T	C	8: 94,334,067	I261T	probably damaging	Het
Slc19a3	C	T	1: 83,014,812	R396H	probably damaging	Het
Slc22a14	T	C	9: 119,180,856	I58V	probably benign	Het
Slc9a9	A	C	9: 95,229,039	T637P	probably damaging	Het
Snrnp40	T	A	4: 130,384,523	C274S	possibly damaging	Het
Sptbn1	A	G	11: 30,138,457	V905A	probably damaging	Het
Taok3	A	G	5: 117,266,037	D759G	possibly damaging	Het
Tnfrsf25	T	C	4: 152,119,682	V360A	possibly damaging	Het
Trim12a	A	T	7: 104,304,337	M189K	possibly damaging	Het
Tspan32	T	C	7: 143,005,958	F41L	probably benign	Het
Tube1	T	A	10: 39,145,661	S301T	possibly damaging	Het
Usp8	T	C	2: 126,742,658	S596P	probably benign	Het
Virma	T	A	4: 11,521,261		probably null	Het
Vmn2r58	T	C	7: 41,864,298	D307G	probably benign	Het
Zeb2	T	C	2: 44,998,952	K327R	probably damaging	Het
Zfp54	C	T	17: 21,434,648	T468M	probably benign	Het
Zfp780b	A	T	7: 27,963,126	I668N	possibly damaging	Het

Other mutations in Tas1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02708:Tas1r1	APN	4	152028340	missense	possibly damaging	0.82
IGL02867:Tas1r1	APN	4	152028278	missense	probably damaging	1.00
R1547:Tas1r1	UTSW	4	152028419	missense	probably damaging	1.00
R1775:Tas1r1	UTSW	4	152038218	nonsense	probably null
R1803:Tas1r1	UTSW	4	152032248	missense	probably damaging	0.99
R2037:Tas1r1	UTSW	4	152028170	missense	probably damaging	1.00
R2083:Tas1r1	UTSW	4	152028391	missense	probably benign	0.02
R3821:Tas1r1	UTSW	4	152034681	missense	probably benign
R3912:Tas1r1	UTSW	4	152031924	missense	probably damaging	0.97
R4227:Tas1r1	UTSW	4	152028272	missense	probably damaging	0.99
R4272:Tas1r1	UTSW	4	152032157	missense	possibly damaging	0.70
R4273:Tas1r1	UTSW	4	152032157	missense	possibly damaging	0.70
R4818:Tas1r1	UTSW	4	152032674	missense	probably benign	0.15
R5567:Tas1r1	UTSW	4	152038325	missense	probably damaging	0.99
R6183:Tas1r1	UTSW	4	152032541	missense	probably damaging	1.00
R7162:Tas1r1	UTSW	4	152032238	missense	possibly damaging	0.91
R7427:Tas1r1	UTSW	4	152038308	missense	probably benign	0.39
R7535:Tas1r1	UTSW	4	152028362	missense	probably benign	0.06
R7736:Tas1r1	UTSW	4	152032466	missense	probably benign	0.17
R7796:Tas1r1	UTSW	4	152034755	missense	probably benign	0.01
R7921:Tas1r1	UTSW	4	152028661	missense	possibly damaging	0.88
R8078:Tas1r1	UTSW	4	152028346	missense	probably damaging	1.00
R8255:Tas1r1	UTSW	4	152032317	missense	probably benign	0.18
Z1177:Tas1r1	UTSW	4	152032214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTAGAGAAGACCACGACCACGG -3'
(R):5'- AACTCCATAGAGCGTCCTGC -3'

Sequencing Primer
(F):5'- GAGCCAGACGCAGCATCATG -3'
(R):5'- CCTGTACTGGGTGGGCACTG -3'

Posted On

2020-10-20