Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:Tas1r3'

306081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tas1r3

Ensembl Gene

ENSMUSG00000029072

Gene Name

taste receptor, type 1, member 3

Synonyms

T1r3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

155859268-155863362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155860460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 768 (G768D)

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

possibly damaging
Transcript: ENSMUST00000030949
AA Change: G768D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: G768D

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: ENSMUST00000129450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141539

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143457

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
BC048403	A	C	10: 121,745,550	Q152P	possibly damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	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
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
R1700:Tas1r3	UTSW	4	155861570	missense	probably benign
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

Posted On

2015-04-16