Mutagenetix > Incidental Mutation

Incidental Mutation 'R2237:Tas1r3'

240435

Institutional Source

Beutler Lab

Gene Symbol

Tas1r3

Ensembl Gene

ENSMUSG00000029072

Gene Name

taste receptor, type 1, member 3

Synonyms

T1r3

MMRRC Submission

040237-MU

Accession Numbers

Essential gene?

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

Stock #

R2237 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155943725-155947810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 155946675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 310 (M310K)

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

possibly damaging
Transcript: ENSMUST00000030949
AA Change: M310K

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: M310K

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: ENSMUST00000156997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156266

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	C	8: 25,136,303 (GRCm39)	E406G	probably benign	Het
Alox8	A	C	11: 69,076,597 (GRCm39)	S572A	probably benign	Het
Aoah	G	A	13: 20,978,481 (GRCm39)		probably benign	Het
Arhgap36	G	T	X: 48,582,282 (GRCm39)	V60L	possibly damaging	Het
Arhgef37	T	A	18: 61,637,477 (GRCm39)	Y395F	probably damaging	Het
Bard1	G	A	1: 71,114,135 (GRCm39)	P282L	probably damaging	Het
Brd7	T	A	8: 89,073,541 (GRCm39)	E283V	probably benign	Het
Btbd9	T	C	17: 30,553,302 (GRCm39)	I387V	probably benign	Het
Cacna1a	T	C	8: 85,360,394 (GRCm39)		probably null	Het
Cacna1c	T	C	6: 118,629,704 (GRCm39)	Q1205R	possibly damaging	Het
Camsap2	A	T	1: 136,273,069 (GRCm39)	L36Q	probably damaging	Het
Ccnj	T	C	19: 40,834,219 (GRCm39)	F261L	probably benign	Het
Cd200r4	T	A	16: 44,641,260 (GRCm39)	M1K	probably null	Het
Cdca7l	A	G	12: 117,837,761 (GRCm39)	E237G	probably damaging	Het
Cep128	T	C	12: 91,314,341 (GRCm39)	T146A	probably benign	Het
Clhc1	T	G	11: 29,519,329 (GRCm39)	S379A	probably benign	Het
Dbf4	T	A	5: 8,458,542 (GRCm39)	I158L	possibly damaging	Het
Deup1	A	C	9: 15,486,597 (GRCm39)	I455S	probably damaging	Het
Dlec1	T	C	9: 118,967,259 (GRCm39)		probably null	Het
Eomes	A	G	9: 118,311,359 (GRCm39)	D394G	probably damaging	Het
Epn1	A	G	7: 5,100,601 (GRCm39)	N518S	probably damaging	Het
Espl1	G	A	15: 102,224,004 (GRCm39)	R1185H	probably damaging	Het
Evc2	T	C	5: 37,535,527 (GRCm39)	S401P	probably benign	Het
Fbxw15	A	G	9: 109,384,303 (GRCm39)	S403P	probably damaging	Het
Hsd17b1	G	A	11: 100,970,652 (GRCm39)	V236M	probably damaging	Het
Htatsf1	G	T	X: 56,111,864 (GRCm39)	D642Y	unknown	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Itpripl2	T	C	7: 118,089,294 (GRCm39)	T422A	probably benign	Het
Izumo4	T	C	10: 80,538,664 (GRCm39)	S39P	probably damaging	Het
Kcnh5	T	A	12: 75,054,493 (GRCm39)	M484L	probably benign	Het
Kctd8	T	A	5: 69,267,752 (GRCm39)	I453F	probably damaging	Het
Kif5c	A	G	2: 49,584,020 (GRCm39)	T152A	probably benign	Het
Kntc1	T	C	5: 123,941,733 (GRCm39)	V1809A	possibly damaging	Het
L3mbtl2	A	T	15: 81,568,531 (GRCm39)	T512S	probably benign	Het
Ltbp1	C	A	17: 75,617,158 (GRCm39)	D1032E	probably benign	Het
Mindy4	T	C	6: 55,278,055 (GRCm39)	F633S	probably damaging	Het
Muc5b	T	G	7: 141,415,826 (GRCm39)	I2924S	probably benign	Het
Nfe2l2	G	A	2: 75,506,898 (GRCm39)	P401S	probably benign	Het
Nid1	T	C	13: 13,675,070 (GRCm39)	V930A	probably benign	Het
Nt5c1b	C	A	12: 10,425,558 (GRCm39)	T309K	probably damaging	Het
Nt5m	A	G	11: 59,743,696 (GRCm39)	K108R	probably benign	Het
Or10v5	T	C	19: 11,805,814 (GRCm39)	D192G	probably damaging	Het
Or13p3	A	G	4: 118,567,192 (GRCm39)	D196G	probably damaging	Het
Osbpl9	T	A	4: 109,013,854 (GRCm39)	Q80L	probably damaging	Het
Osm	A	G	11: 4,188,505 (GRCm39)	N44S	possibly damaging	Het
Pclo	C	T	5: 14,763,952 (GRCm39)	P4142S	unknown	Het
Pdlim2	T	G	14: 70,408,698 (GRCm39)	T173P	probably benign	Het
Pex1	T	C	5: 3,668,915 (GRCm39)		probably null	Het
Phka2	A	G	X: 159,324,408 (GRCm39)	E254G	probably damaging	Het
Pik3cb	A	G	9: 98,923,081 (GRCm39)	Y984H	probably damaging	Het
Plscr2	T	C	9: 92,172,877 (GRCm39)	C179R	probably damaging	Het
Rbpms2	C	A	9: 65,558,893 (GRCm39)	Y183*	probably null	Het
Ryr2	T	A	13: 11,677,146 (GRCm39)	E3235V	probably benign	Het
Sesn3	T	C	9: 14,219,761 (GRCm39)	V50A	probably benign	Het
Siglecf	T	C	7: 43,004,409 (GRCm39)	V246A	probably benign	Het
Sp2	C	T	11: 96,846,762 (GRCm39)	C527Y	probably damaging	Het
Spata31e2	A	T	1: 26,724,241 (GRCm39)	M313K	possibly damaging	Het
Spata4	A	C	8: 55,055,664 (GRCm39)	K185T	probably benign	Het
Spin2c	A	G	X: 152,616,672 (GRCm39)	I162V	probably damaging	Het
Stac	G	A	9: 111,519,190 (GRCm39)		probably benign	Het
Tenm3	G	A	8: 48,795,372 (GRCm39)	P585L	probably damaging	Het
Tnfsf11	A	T	14: 78,537,421 (GRCm39)	S81T	possibly damaging	Het
Topaz1	C	T	9: 122,600,212 (GRCm39)	T984I	probably benign	Het
Ttll2	G	A	17: 7,619,522 (GRCm39)	T135I	probably benign	Het
Ubr4	A	G	4: 139,170,101 (GRCm39)	S1584G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn2r80	G	A	10: 79,004,104 (GRCm39)	E106K	probably damaging	Het
Xpc	T	C	6: 91,475,090 (GRCm39)	H643R	probably damaging	Het
Zan	G	A	5: 137,456,099 (GRCm39)	Q1354*	probably null	Het
Zpld2	A	C	4: 133,929,516 (GRCm39)	M263R	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
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
R8701:Tas1r3	UTSW	4	155,945,503 (GRCm39)	missense	probably benign	0.00
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'- CAGCATGATGTCGTCACACC -3'
(R):5'- ACAACATGACACTAGTGGCC -3'

Sequencing Primer
(F):5'- ATGATGTCGTCACACCGTGGAC -3'
(R):5'- CATGACACTAGTGGCCAACAGTTG -3'

Posted On

2014-10-15