Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:Tas1r1'

224749

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

040044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152112371-152122947 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152112627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 809 (F809L)

Ref Sequence

ENSEMBL: ENSMUSP00000030792 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030792] [ENSMUST00000066715] [ENSMUST00000131935] [ENSMUST00000155389] [ENSMUST00000156748]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030792
AA Change: F809L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
AA Change: F809L

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155441

Predicted Effect

probably benign
Transcript: ENSMUST00000156748

SMART Domains

Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952

Domain	Start	End	E-Value	Type
ZnF_C2H2	80	102	1.64e-1	SMART
ZnF_C2H2	108	128	2.06e1	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Cbx3	T	A	6: 51,448,793 (GRCm39)		probably null	Het
Ccnt2	A	G	1: 127,731,136 (GRCm39)	Y671C	probably damaging	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pappa2	A	T	1: 158,784,214 (GRCm39)	Y265*	probably null	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,385,529 (GRCm39)	T540K	probably benign	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
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
R4273: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'- CTTATACATCGCAAGCCGTG -3'
(R):5'- TCTGCAGCTACCTGGGTAAG -3'

Sequencing Primer
(F):5'- GCTGAGCTCTCCCAGACAC -3'
(R):5'- CTGGGTAAGGAACTGCCG -3'

Posted On

2014-08-25