Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Tas1r3'

669054

Institutional Source

Beutler Lab

Gene Symbol

Tas1r3

Ensembl Gene

ENSMUSG00000029072

Gene Name

taste receptor, type 1, member 3

Synonyms

T1r3

MMRRC Submission

068555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155943725-155947810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155945503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 573 (V573I)

Ref Sequence

ENSEMBL: ENSMUSP00000030949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030948] [ENSMUST00000030949] [ENSMUST00000030950] [ENSMUST00000168552]

AlphaFold

Q925D8

Predicted Effect

probably benign
Transcript: ENSMUST00000030948

SMART Domains

Protein: ENSMUSP00000030948
Gene: ENSMUSG00000029071

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	144	215	1.1e-31	PFAM
low complexity region	217	233	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	4.2e-67	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030949
AA Change: V573I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: V573I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:ANF_receptor	72	469	2e-79	PFAM
Pfam:NCD3G	500	552	1.9e-16	PFAM
Pfam:7tm_3	576	821	9.6e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030950

SMART Domains

Protein: ENSMUSP00000030950
Gene: ENSMUSG00000029073

Domain	Start	End	E-Value	Type
Pfam:GLTP	27	179	1.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168552

SMART Domains

Protein: ENSMUSP00000133137
Gene: ENSMUSG00000029071

Domain	Start	End	E-Value	Type
DAX	1	85	2.17e-52	SMART
Pfam:Dishevelled	90	247	1.7e-60	PFAM
PDZ	260	339	3.13e-16	SMART
low complexity region	380	397	N/A	INTRINSIC
DEP	425	499	1.47e-26	SMART
Pfam:Dsh_C	503	685	7.6e-59	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

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 involved in taste responses. The encoded protein can form a heterodimeric receptor with TAS1R1 to elicit the umami taste response, or it can bind with TAS1R2 to form a receptor for the sweet taste response. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutation of this locus affects taste perception. Complete inactivation results in diminished behavioral and nervous repsonses to both sweet and umami tastants. [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
Abcc4	T	C	14: 118,836,785 (GRCm39)	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,592,276 (GRCm39)	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,370,256 (GRCm39)	F117I	probably damaging	Het
Aldh3b2	A	G	19: 4,028,448 (GRCm39)	E116G	probably damaging	Het
Alox5	T	A	6: 116,390,787 (GRCm39)	I455F	possibly damaging	Het
Arnt	C	T	3: 95,401,076 (GRCm39)	S675F	possibly damaging	Het
Camkv	A	G	9: 107,825,240 (GRCm39)	T414A	possibly damaging	Het
Ccn5	G	T	2: 163,670,786 (GRCm39)	G98W	probably damaging	Het
Cd209c	C	T	8: 3,995,892 (GRCm39)	R6H	probably benign	Het
Cip2a	T	A	16: 48,827,504 (GRCm39)	Y456*	probably null	Het
Cnr1	A	G	4: 33,944,739 (GRCm39)	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,009,810 (GRCm39)	K183M	possibly damaging	Het
Dact3	G	T	7: 16,619,201 (GRCm39)	R232L	probably damaging	Het
Dlg5	G	A	14: 24,226,768 (GRCm39)	T378M	probably benign	Het
Dnah10	T	A	5: 124,803,911 (GRCm39)	D79E	probably benign	Het
Dsc1	A	T	18: 20,240,739 (GRCm39)	Y195*	probably null	Het
Elovl1	A	T	4: 118,287,707 (GRCm39)	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755 (GRCm38)	F124L	probably damaging	Het
Fam219a	A	G	4: 41,520,283 (GRCm39)	M155T	probably damaging	Het
Gm28308	C	G	6: 52,140,430 (GRCm39)		probably benign	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,245,077 (GRCm39)	I445N	probably damaging	Het
Gzmb	A	T	14: 56,497,817 (GRCm39)	V141E	probably benign	Het
Hmcn1	A	T	1: 150,631,008 (GRCm39)	M930K	probably benign	Het
Hunk	T	A	16: 90,183,498 (GRCm39)	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,578,501 (GRCm39)	E304G	probably benign	Het
Klk14	A	G	7: 43,343,566 (GRCm39)	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,821,782 (GRCm39)	S695P	probably damaging	Het
Mccc1	A	T	3: 36,049,933 (GRCm39)	D86E	probably benign	Het
Mcu	T	A	10: 59,303,475 (GRCm39)	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,136,045 (GRCm39)	F90S	possibly damaging	Het
Muc2	A	G	7: 141,281,850 (GRCm39)	D536G	probably damaging	Het
Naa11	T	C	5: 97,539,817 (GRCm39)	S114G	possibly damaging	Het
Ncaph	T	C	2: 126,948,058 (GRCm39)	K676E	probably benign	Het
Neurl2	C	T	2: 164,675,054 (GRCm39)	D103N	probably benign	Het
Nup210l	T	C	3: 90,030,121 (GRCm39)	M278T	probably benign	Het
Or10g6	A	G	9: 39,933,815 (GRCm39)	N42S	probably damaging	Het
Or4p4	A	G	2: 88,482,831 (GRCm39)	I112V	possibly damaging	Het
Or51r1	A	T	7: 102,227,899 (GRCm39)	M66L	possibly damaging	Het
Or8c19-ps1	A	T	9: 38,220,734 (GRCm39)	L214F	unknown	Het
Or8g4	A	T	9: 39,662,210 (GRCm39)	H176L	probably damaging	Het
Pcdh20	A	T	14: 88,705,849 (GRCm39)	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,438,079 (GRCm39)	Y3598C	probably damaging	Het
Plcg2	T	A	8: 118,308,416 (GRCm39)	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,557,953 (GRCm39)	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615 (GRCm39)	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,862,495 (GRCm39)	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,003,507 (GRCm39)	K291M	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rnf220	T	C	4: 117,347,190 (GRCm39)	H74R	probably damaging	Het
Sp6	A	T	11: 96,913,090 (GRCm39)	T268S	probably damaging	Het
Spata31e2	A	T	1: 26,724,526 (GRCm39)	V218D	probably benign	Het
Sphk2	A	T	7: 45,360,249 (GRCm39)	V585E	probably damaging	Het
Syne1	G	A	10: 5,155,026 (GRCm39)	Q5638*	probably null	Het
Tdrd1	T	C	19: 56,839,916 (GRCm39)	S659P	possibly damaging	Het
Tead4	T	A	6: 128,219,529 (GRCm39)	K237N	probably damaging	Het
Tex24	T	A	8: 27,835,152 (GRCm39)	C227S	probably benign	Het
Tom1	A	T	8: 75,778,796 (GRCm39)	T174S	probably benign	Het
Tpm3	C	T	3: 89,994,987 (GRCm39)	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,169,762 (GRCm39)	E111G	possibly damaging	Het
Unc80	A	G	1: 66,677,191 (GRCm39)	D2040G	possibly damaging	Het
Usp47	A	G	7: 111,692,402 (GRCm39)	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,195,556 (GRCm39)	A590V	probably damaging	Het
Zfp112	A	G	7: 23,825,165 (GRCm39)	R382G	probably damaging	Het
Zfp606	T	A	7: 12,215,025 (GRCm39)	D84E	unknown	Het

Other mutations in Tas1r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Tas1r3	APN	4	155,945,784 (GRCm39)	missense	probably benign	0.43
IGL01587:Tas1r3	APN	4	155,945,816 (GRCm39)	missense	probably damaging	0.99
IGL02314:Tas1r3	APN	4	155,945,119 (GRCm39)	missense	probably damaging	1.00
IGL02747:Tas1r3	APN	4	155,944,917 (GRCm39)	missense	possibly damaging	0.92
IGL02999:Tas1r3	APN	4	155,946,816 (GRCm39)	missense	probably damaging	0.97
IGL03026:Tas1r3	APN	4	155,946,300 (GRCm39)	unclassified	probably benign
IGL03407:Tas1r3	APN	4	155,946,439 (GRCm39)	splice site	probably null
R0122:Tas1r3	UTSW	4	155,945,290 (GRCm39)	missense	probably benign
R0827:Tas1r3	UTSW	4	155,945,326 (GRCm39)	missense	probably benign	0.02
R1700:Tas1r3	UTSW	4	155,946,027 (GRCm39)	missense	probably benign
R1803:Tas1r3	UTSW	4	155,944,927 (GRCm39)	missense	probably damaging	0.99
R1804:Tas1r3	UTSW	4	155,944,927 (GRCm39)	missense	probably damaging	0.99
R1883:Tas1r3	UTSW	4	155,946,610 (GRCm39)	missense	probably damaging	1.00
R1998:Tas1r3	UTSW	4	155,947,377 (GRCm39)	missense	probably damaging	1.00
R2061:Tas1r3	UTSW	4	155,944,927 (GRCm39)	missense	probably damaging	0.99
R2104:Tas1r3	UTSW	4	155,946,588 (GRCm39)	missense	probably benign	0.26
R2127:Tas1r3	UTSW	4	155,944,927 (GRCm39)	missense	probably damaging	0.99
R2129:Tas1r3	UTSW	4	155,944,927 (GRCm39)	missense	probably damaging	0.99
R2237:Tas1r3	UTSW	4	155,946,675 (GRCm39)	missense	possibly damaging	0.58
R2316:Tas1r3	UTSW	4	155,947,772 (GRCm39)	missense	probably benign
R2847:Tas1r3	UTSW	4	155,944,659 (GRCm39)	missense	probably benign	0.08
R3619:Tas1r3	UTSW	4	155,945,410 (GRCm39)	missense	probably damaging	0.99
R3870:Tas1r3	UTSW	4	155,945,810 (GRCm39)	missense	probably damaging	1.00
R4194:Tas1r3	UTSW	4	155,947,442 (GRCm39)	missense	probably damaging	1.00
R4195:Tas1r3	UTSW	4	155,947,442 (GRCm39)	missense	probably damaging	1.00
R4420:Tas1r3	UTSW	4	155,946,789 (GRCm39)	missense	probably damaging	0.99
R5577:Tas1r3	UTSW	4	155,946,522 (GRCm39)	missense	probably benign	0.36
R6734:Tas1r3	UTSW	4	155,945,257 (GRCm39)	missense	probably damaging	1.00
R7006:Tas1r3	UTSW	4	155,947,361 (GRCm39)	missense	possibly damaging	0.93
R7231:Tas1r3	UTSW	4	155,947,283 (GRCm39)	missense	probably damaging	1.00
R7490:Tas1r3	UTSW	4	155,946,480 (GRCm39)	missense	probably damaging	0.97
R7895:Tas1r3	UTSW	4	155,947,005 (GRCm39)	missense	probably damaging	1.00
R8796:Tas1r3	UTSW	4	155,945,848 (GRCm39)	missense	probably benign	0.15
R8941:Tas1r3	UTSW	4	155,947,600 (GRCm39)	critical splice donor site	probably null
R9371:Tas1r3	UTSW	4	155,945,059 (GRCm39)	missense	possibly damaging	0.75
R9576:Tas1r3	UTSW	4	155,946,822 (GRCm39)	missense	probably benign
R9743:Tas1r3	UTSW	4	155,945,256 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCAGGAAGAGTGTGCTCAG -3'
(R):5'- AGCATTCAAGTCTGGCAAGC -3'

Sequencing Primer
(F):5'- TTGTGCAAGGCAGCTGGC -3'
(R):5'- GGCTAATGTGGAGACAGTTACTG -3'

Posted On

2021-04-30