Mutagenetix > Incidental Mutation

Incidental Mutation 'R1700:Tas1r3'

189640

Institutional Source

Beutler Lab

Gene Symbol

Tas1r3

Ensembl Gene

ENSMUSG00000029072

Gene Name

taste receptor, type 1, member 3

Synonyms

T1r3

MMRRC Submission

039733-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R1700 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155859268-155863362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155861570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 489 (Q489P)

Ref Sequence

ENSEMBL: ENSMUSP00000030949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030948] [ENSMUST00000030949] [ENSMUST00000030950] [ENSMUST00000151961] [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: Q489P

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

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: Q489P

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

noncoding transcript
Transcript: ENSMUST00000133184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143457

Predicted Effect

probably benign
Transcript: ENSMUST00000151961

SMART Domains

Protein: ENSMUSP00000115935
Gene: ENSMUSG00000029073

Domain	Start	End	E-Value	Type
Pfam:GLTP	25	181	1.9e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156266

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156997

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,709,938	L1010F	probably damaging	Het
Abcb1b	T	C	5: 8,849,537	F936L	probably benign	Het
Adamts12	T	A	15: 11,152,057	I211N	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Alas1	C	T	9: 106,239,646	V293I	possibly damaging	Het
Ap1g1	T	C	8: 109,853,612	Y569H	probably damaging	Het
Apc2	A	G	10: 80,312,769	D1190G	probably damaging	Het
Astn2	G	A	4: 65,746,354	Q679*	probably null	Het
Atp2a1	T	A	7: 126,462,909	H5L	probably damaging	Het
Baiap3	T	C	17: 25,249,328	K279E	probably damaging	Het
C2cd2l	G	A	9: 44,316,612	P111S	probably benign	Het
C7	T	A	15: 5,002,792	K646*	probably null	Het
Ccp110	C	T	7: 118,735,313	T1003I	probably damaging	Het
Cdh22	T	C	2: 165,170,796	D123G	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Clip1	A	G	5: 123,630,370	V722A	probably benign	Het
Cpsf4l	A	G	11: 113,702,075	F174S	probably benign	Het
Ctnna3	T	C	10: 63,852,772	C332R	probably damaging	Het
Cxcl10	A	T	5: 92,347,855	N76K	probably damaging	Het
Dnaja3	G	A	16: 4,684,165	R11K	probably null	Het
Efcab10	A	G	12: 33,395,171	T28A	possibly damaging	Het
Esrrg	A	G	1: 188,043,653	R103G	probably damaging	Het
Exosc2	A	G	2: 31,670,806	K23E	probably benign	Het
Flot2	C	T	11: 78,049,547	S40L	possibly damaging	Het
Fsip2	T	C	2: 82,991,737	V5938A	probably benign	Het
Gclc	A	G	9: 77,776,289	T143A	probably benign	Het
Gpr37	A	G	6: 25,669,624	V407A	probably benign	Het
Gucy2e	A	T	11: 69,232,058	M497K	probably benign	Het
Herc1	T	A	9: 66,450,678		probably null	Het
Hnrnpll	A	C	17: 80,034,105	S502A	probably benign	Het
Ipo11	G	T	13: 106,795,662	T975N	probably benign	Het
Kif17	C	T	4: 138,262,698	Q66*	probably null	Het
Lrp10	T	C	14: 54,469,752	V682A	possibly damaging	Het
Lsmem1	A	T	12: 40,180,678	L75Q	probably damaging	Het
Med16	A	T	10: 79,899,335	Y430N	probably benign	Het
Med8	C	T	4: 118,412,734	S72L	possibly damaging	Het
Mex3a	A	G	3: 88,536,375	T253A	probably damaging	Het
Myf6	T	C	10: 107,493,359	K242E	probably damaging	Het
Ncald	T	A	15: 37,397,343	Y31F	probably benign	Het
Ndufa12	T	A	10: 94,199,993	Y48N	probably damaging	Het
Olfr1111	T	G	2: 87,149,779	N294T	probably damaging	Het
Olfr1145	T	C	2: 87,810,768	V316A	probably benign	Het
Olfr638	T	A	7: 104,004,122	Y282*	probably null	Het
Pde4dip	T	C	3: 97,703,323	T1858A	probably benign	Het
Pgbd1	A	G	13: 21,434,481	L2P	probably damaging	Het
Piezo1	C	T	8: 122,487,502	R1642H	probably damaging	Het
Plxna1	A	T	6: 89,357,008	M213K	probably damaging	Het
Polr1b	A	G	2: 129,123,121	N709S	probably damaging	Het
Pramel1	T	A	4: 143,398,429	W308R	probably damaging	Het
Prkag2	A	T	5: 24,871,541	I208N	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rngtt	T	A	4: 33,330,864	F156I	probably damaging	Het
Rpusd3	A	G	6: 113,415,533	*345Q	probably null	Het
Rrp1b	A	G	17: 32,057,204	K575R	probably benign	Het
Shd	G	A	17: 55,974,307	V250I	probably damaging	Het
Slc12a5	C	A	2: 164,992,376	N749K	possibly damaging	Het
Sorbs2	T	A	8: 45,800,984	V488D	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Srsf4	C	A	4: 131,900,560		probably benign	Het
Strn	T	C	17: 78,692,402	Y135C	probably damaging	Het
Synm	T	C	7: 67,759,628	M1V	probably null	Het
Tas2r103	A	T	6: 133,036,811	N97K	probably damaging	Het
Tas2r113	A	G	6: 132,893,792	Y261C	possibly damaging	Het
Tex21	T	C	12: 76,221,672	E112G	probably damaging	Het
Trappc8	T	C	18: 20,832,998	S1128G	probably damaging	Het
Ubap1l	A	G	9: 65,371,743		probably benign	Het
Ubash3a	A	G	17: 31,215,044	D121G	probably damaging	Het
Ubxn4	A	G	1: 128,252,286	I56V	possibly damaging	Het
Uri1	T	C	7: 37,963,524	I348M	probably damaging	Het
Usp21	C	A	1: 171,283,722	L379F	probably damaging	Het
Vmn1r159	T	A	7: 22,842,965	H214L	probably damaging	Het
Zdbf2	A	G	1: 63,302,741	E93G	unknown	Het

Other mutations in Tas1r3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Tas1r3	APN	4	155861327	missense	probably benign	0.43
IGL01587:Tas1r3	APN	4	155861359	missense	probably damaging	0.99
IGL02314:Tas1r3	APN	4	155860662	missense	probably damaging	1.00
IGL02747:Tas1r3	APN	4	155860460	missense	possibly damaging	0.92
IGL02999:Tas1r3	APN	4	155862359	missense	probably damaging	0.97
IGL03026:Tas1r3	APN	4	155861843	unclassified	probably benign
IGL03407:Tas1r3	APN	4	155861982	splice site	probably null
R0122:Tas1r3	UTSW	4	155860833	missense	probably benign
R0827:Tas1r3	UTSW	4	155860869	missense	probably benign	0.02
R1803:Tas1r3	UTSW	4	155860470	missense	probably damaging	0.99
R1804:Tas1r3	UTSW	4	155860470	missense	probably damaging	0.99
R1883:Tas1r3	UTSW	4	155862153	missense	probably damaging	1.00
R1998:Tas1r3	UTSW	4	155862920	missense	probably damaging	1.00
R2061:Tas1r3	UTSW	4	155860470	missense	probably damaging	0.99
R2104:Tas1r3	UTSW	4	155862131	missense	probably benign	0.26
R2127:Tas1r3	UTSW	4	155860470	missense	probably damaging	0.99
R2129:Tas1r3	UTSW	4	155860470	missense	probably damaging	0.99
R2237:Tas1r3	UTSW	4	155862218	missense	possibly damaging	0.58
R2316:Tas1r3	UTSW	4	155863315	missense	probably benign
R2847:Tas1r3	UTSW	4	155860202	missense	probably benign	0.08
R3619:Tas1r3	UTSW	4	155860953	missense	probably damaging	0.99
R3870:Tas1r3	UTSW	4	155861353	missense	probably damaging	1.00
R4194:Tas1r3	UTSW	4	155862985	missense	probably damaging	1.00
R4195:Tas1r3	UTSW	4	155862985	missense	probably damaging	1.00
R4420:Tas1r3	UTSW	4	155862332	missense	probably damaging	0.99
R5577:Tas1r3	UTSW	4	155862065	missense	probably benign	0.36
R6734:Tas1r3	UTSW	4	155860800	missense	probably damaging	1.00
R7006:Tas1r3	UTSW	4	155862904	missense	possibly damaging	0.93
R7231:Tas1r3	UTSW	4	155862826	missense	probably damaging	1.00
R7490:Tas1r3	UTSW	4	155862023	missense	probably damaging	0.97
R7895:Tas1r3	UTSW	4	155862548	missense	probably damaging	1.00
R8701:Tas1r3	UTSW	4	155861046	missense	probably benign	0.00
R8796:Tas1r3	UTSW	4	155861391	missense	probably benign	0.15
R8941:Tas1r3	UTSW	4	155863143	critical splice donor site	probably null
R9371:Tas1r3	UTSW	4	155860602	missense	possibly damaging	0.75
R9576:Tas1r3	UTSW	4	155862365	missense	probably benign
R9743:Tas1r3	UTSW	4	155860799	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGCCCTTTACTCGGCGAAC -3'
(R):5'- CCAGGCAGAGCCAAATCTTGTTGTG -3'

Sequencing Primer
(F):5'- TTTACTCGGCGAACCTGGC -3'
(R):5'- CCAAATCTTGTTGTGACTGGAGAG -3'

Posted On

2014-05-14