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: 0.067) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152112371-152122947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152116614 bp (GRCm39)

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: 86,792,835 (GRCm39)		probably null	Het
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Akap8l	T	A	17: 32,540,905 (GRCm39)	K533*	probably null	Het
Appbp2	T	C	11: 85,125,502 (GRCm39)	Y45C	probably damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,422,697 (GRCm39)	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,312,339 (GRCm39)	N493K	probably benign	Het
Bcr	T	C	10: 74,960,943 (GRCm39)	I458T	probably damaging	Het
Brd4	G	A	17: 32,433,756 (GRCm39)	T468I	probably benign	Het
Cdh23	T	A	10: 60,146,940 (GRCm39)	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 112,495,417 (GRCm39)	Y267C	probably damaging	Het
Chd6	C	A	2: 160,803,211 (GRCm39)	A2156S	probably benign	Het
Dazap2	C	A	15: 100,515,971 (GRCm39)	P100T	probably damaging	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dst	C	T	1: 34,231,421 (GRCm39)	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3l	T	C	8: 106,016,593 (GRCm39)	*740W	probably null	Het
Exoc5	A	T	14: 49,252,937 (GRCm39)	C625*	probably null	Het
Fam98b	A	T	2: 117,090,712 (GRCm39)	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,732,848 (GRCm39)	V319L	possibly damaging	Het
Fer1l6	T	C	15: 58,499,371 (GRCm39)	V1247A	probably benign	Het
Fmo4	A	G	1: 162,632,748 (GRCm39)	V201A	probably damaging	Het
Fras1	G	A	5: 96,762,763 (GRCm39)	G755D	probably benign	Het
Grid2	T	C	6: 63,886,029 (GRCm39)	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,608,784 (GRCm39)	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,442,155 (GRCm39)	M414T	probably damaging	Het
Itm2c	A	G	1: 85,834,750 (GRCm39)	T160A	probably damaging	Het
Kcna2	T	A	3: 107,012,509 (GRCm39)	D363E	probably benign	Het
Lama2	C	T	10: 27,223,050 (GRCm39)	C412Y	probably damaging	Het
Lims2	C	G	18: 32,089,390 (GRCm39)	T151S	probably benign	Het
Mier1	T	C	4: 103,019,628 (GRCm39)	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,180 (GRCm39)	W249R	probably benign	Het
Mtor	A	G	4: 148,634,609 (GRCm39)	H2410R	probably benign	Het
Mvp	C	T	7: 126,588,875 (GRCm39)	A631T	probably benign	Het
Nepro	T	C	16: 44,556,192 (GRCm39)	V450A	possibly damaging	Het
Ngrn	T	C	7: 79,914,269 (GRCm39)	V140A	probably damaging	Het
Nobox	T	C	6: 43,282,942 (GRCm39)	E231G	probably benign	Het
Or10al7	A	T	17: 38,366,163 (GRCm39)	I98N	probably damaging	Het
P3h2	T	A	16: 25,923,971 (GRCm39)	I155F	probably benign	Het
Pcdha3	C	T	18: 37,081,144 (GRCm39)	R629C	probably damaging	Het
Pramel24	A	T	4: 143,453,416 (GRCm39)	K175*	probably null	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,110,020 (GRCm39)	I1675T	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,541,758 (GRCm39)	T182N	possibly damaging	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sox9	T	C	11: 112,675,980 (GRCm39)	S390P	possibly damaging	Het
Tango2	T	C	16: 18,120,654 (GRCm39)		probably benign	Het
Tek	G	A	4: 94,718,207 (GRCm39)	G524R	probably damaging	Het
Tmem260	A	T	14: 48,742,761 (GRCm39)	Y532F	probably benign	Het
Tsks	C	A	7: 44,607,353 (GRCm39)	L559I	probably damaging	Het
Unc79	C	A	12: 103,088,612 (GRCm39)	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,211,133 (GRCm39)	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,600,832 (GRCm39)	C710Y	probably benign	Het
Zfp119b	G	T	17: 56,245,926 (GRCm39)	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,118,790 (GRCm39)	R68*	probably null	Het
Zfp229	T	A	17: 21,965,802 (GRCm39)	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411 (GRCm39)	H126Y	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zfp616	T	A	11: 73,974,526 (GRCm39)	M265K	probably benign	Het
Zfyve9	A	T	4: 108,538,173 (GRCm39)	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,747,726 (GRCm39)	Y203C	probably damaging	Het

Other mutations in Tas1r1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02708:Tas1r1	APN	4	152,112,797 (GRCm39)	missense	possibly damaging	0.82
IGL02867:Tas1r1	APN	4	152,112,735 (GRCm39)	missense	probably damaging	1.00
R1547:Tas1r1	UTSW	4	152,112,876 (GRCm39)	missense	probably damaging	1.00
R1775:Tas1r1	UTSW	4	152,122,675 (GRCm39)	nonsense	probably null
R1803:Tas1r1	UTSW	4	152,116,705 (GRCm39)	missense	probably damaging	0.99
R2037:Tas1r1	UTSW	4	152,112,627 (GRCm39)	missense	probably damaging	1.00
R2083:Tas1r1	UTSW	4	152,112,848 (GRCm39)	missense	probably benign	0.02
R3821:Tas1r1	UTSW	4	152,119,138 (GRCm39)	missense	probably benign
R3912:Tas1r1	UTSW	4	152,116,381 (GRCm39)	missense	probably damaging	0.97
R4227:Tas1r1	UTSW	4	152,112,729 (GRCm39)	missense	probably damaging	0.99
R4272:Tas1r1	UTSW	4	152,116,614 (GRCm39)	missense	possibly damaging	0.70
R4818:Tas1r1	UTSW	4	152,117,131 (GRCm39)	missense	probably benign	0.15
R5567:Tas1r1	UTSW	4	152,122,782 (GRCm39)	missense	probably damaging	0.99
R6183:Tas1r1	UTSW	4	152,116,998 (GRCm39)	missense	probably damaging	1.00
R7162:Tas1r1	UTSW	4	152,116,695 (GRCm39)	missense	possibly damaging	0.91
R7427:Tas1r1	UTSW	4	152,122,765 (GRCm39)	missense	probably benign	0.39
R7535:Tas1r1	UTSW	4	152,112,819 (GRCm39)	missense	probably benign	0.06
R7736:Tas1r1	UTSW	4	152,116,923 (GRCm39)	missense	probably benign	0.17
R7796:Tas1r1	UTSW	4	152,119,212 (GRCm39)	missense	probably benign	0.01
R7921:Tas1r1	UTSW	4	152,113,118 (GRCm39)	missense	possibly damaging	0.88
R8078:Tas1r1	UTSW	4	152,112,803 (GRCm39)	missense	probably damaging	1.00
R8255:Tas1r1	UTSW	4	152,116,774 (GRCm39)	missense	probably benign	0.18
R8412:Tas1r1	UTSW	4	152,117,033 (GRCm39)	missense	probably benign
R8799:Tas1r1	UTSW	4	152,116,708 (GRCm39)	missense	probably benign	0.00
R8875:Tas1r1	UTSW	4	152,113,047 (GRCm39)	missense	probably benign	0.03
R9051:Tas1r1	UTSW	4	152,122,833 (GRCm39)	nonsense	probably null
R9393:Tas1r1	UTSW	4	152,116,413 (GRCm39)	missense	probably damaging	1.00
Z1177:Tas1r1	UTSW	4	152,116,671 (GRCm39)	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