Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Tas1r1'

322263

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

041645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152027914-152038568 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152032157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 340 (E340G)

Ref Sequence

ENSEMBL: ENSMUSP00000030792 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030792
AA Change: E340G

PolyPhen 2 Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: E340G

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

noncoding transcript
Transcript: ENSMUST00000123696

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

noncoding transcript
Transcript: ENSMUST00000147982
AA Change: S375G

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

Meta Mutation Damage Score

0.2848

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,874,598		probably null	Het
Adgrf2	T	A	17: 42,710,122	T604S	probably damaging	Het
Akap8l	T	A	17: 32,321,931	K533*	probably null	Het
Appbp2	T	C	11: 85,234,676	Y45C	probably damaging	Het
Arap2	T	C	5: 62,670,979	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,602,335	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,435,140	N493K	probably benign	Het
Bcr	T	C	10: 75,125,111	I458T	probably damaging	Het
Brd4	G	A	17: 32,214,782	T468I	probably benign	Het
Cdh23	T	A	10: 60,311,161	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 111,768,785	Y267C	probably damaging	Het
Chd6	C	A	2: 160,961,291	A2156S	probably benign	Het
Dazap2	C	A	15: 100,618,090	P100T	probably damaging	Het
Disp1	T	A	1: 183,087,644	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 70,766,043	S686T	probably benign	Het
Dst	C	T	1: 34,192,340	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,101,807	N279D	probably benign	Het
Exoc3l	T	C	8: 105,289,961	*740W	probably null	Het
Exoc5	A	T	14: 49,015,480	C625*	probably null	Het
Fam98b	A	T	2: 117,260,231	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,891,627	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,682,848	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,627,522	V1247A	probably benign	Het
Fmo4	A	G	1: 162,805,179	V201A	probably damaging	Het
Fras1	G	A	5: 96,614,904	G755D	probably benign	Het
Gm13078	A	T	4: 143,726,846	K175*	probably null	Het
Grid2	T	C	6: 63,909,045	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,726,731	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,564,956	M414T	probably damaging	Het
Itm2c	A	G	1: 85,907,029	T160A	probably damaging	Het
Kcna2	T	A	3: 107,105,193	D363E	probably benign	Het
Lama2	C	T	10: 27,347,054	C412Y	probably damaging	Het
Lims2	C	G	18: 31,956,337	T151S	probably benign	Het
Mier1	T	C	4: 103,162,431	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,589,432	W249R	probably benign	Het
Mtor	A	G	4: 148,550,152	H2410R	probably benign	Het
Mvp	C	T	7: 126,989,703	A631T	probably benign	Het
Nepro	T	C	16: 44,735,829	V450A	possibly damaging	Het
Ngrn	T	C	7: 80,264,521	V140A	probably damaging	Het
Nobox	T	C	6: 43,306,008	E231G	probably benign	Het
Olfr129	A	T	17: 38,055,272	I98N	probably damaging	Het
P3h2	T	A	16: 26,105,221	I155F	probably benign	Het
Pcdha3	C	T	18: 36,948,091	R629C	probably damaging	Het
Riok3	AGAAGCGG	AG	18: 12,135,941		probably benign	Het
Rttn	T	C	18: 89,091,896	I1675T	probably benign	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,304,301	T182N	possibly damaging	Het
Slc52a3	T	A	2: 152,005,740	I256N	possibly damaging	Het
Sox9	T	C	11: 112,785,154	S390P	possibly damaging	Het
Tango2	T	C	16: 18,302,790		probably benign	Het
Tek	G	A	4: 94,829,970	G524R	probably damaging	Het
Tmem260	A	T	14: 48,505,304	Y532F	probably benign	Het
Tsks	C	A	7: 44,957,929	L559I	probably damaging	Het
Unc79	C	A	12: 103,122,353	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,234,148	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,452,966	C710Y	probably benign	Het
Zfp119b	G	T	17: 55,938,926	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,207,494	R68*	probably null	Het
Zfp229	T	A	17: 21,746,821	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411	H126Y	probably benign	Het
Zfp52	C	A	17: 21,560,197	Y102*	probably null	Het
Zfp616	T	A	11: 74,083,700	M265K	probably benign	Het
Zfyve9	A	T	4: 108,680,976	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,697,690	Y203C	probably 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
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
R8412:Tas1r1	UTSW	4	152032576	missense	probably benign
R8799:Tas1r1	UTSW	4	152032251	missense	probably benign	0.00
R8875:Tas1r1	UTSW	4	152028590	missense	probably benign	0.03
R9051:Tas1r1	UTSW	4	152038376	nonsense	probably null
R9393:Tas1r1	UTSW	4	152031956	missense	probably damaging	1.00
Z1177:Tas1r1	UTSW	4	152032214	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACAGGTCCCAGAGGTACATC -3'
(R):5'- CGTGGTCGTGGTCTTCTCTAAC -3'

Sequencing Primer
(F):5'- AGGTACATCCCAGGAGCTG -3'
(R):5'- TCTCTAACCGGCACCTGG -3'

Posted On

2015-06-20