Mutagenetix > Incidental Mutation

Incidental Mutation 'R2847:Tas1r3'

251672

Institutional Source

Beutler Lab

Gene Symbol

Tas1r3

Ensembl Gene

ENSMUSG00000029072

Gene Name

taste receptor, type 1, member 3

Synonyms

T1r3

MMRRC Submission

040440-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R2847 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155943725-155947810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155944659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 854 (Q854L)

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: Q854L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000030949
Gene: ENSMUSG00000029072
AA Change: Q854L

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: 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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930510E17Rik	T	C	9: 53,176,089 (GRCm39)		noncoding transcript	Het
Abca13	T	C	11: 9,244,584 (GRCm39)	V2149A	possibly damaging	Het
Abca8a	T	C	11: 109,932,931 (GRCm39)	D1231G	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Atxn1	A	T	13: 45,720,175 (GRCm39)	D573E	probably damaging	Het
Bub3	C	T	7: 131,172,613 (GRCm39)	T326M	possibly damaging	Het
Cd151	T	C	7: 141,049,463 (GRCm39)	Y57H	probably damaging	Het
Cib4	T	C	5: 30,645,932 (GRCm39)	N112S	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Defb39	C	T	8: 19,102,909 (GRCm39)	R62H	possibly damaging	Het
Dennd2b	T	C	7: 109,124,544 (GRCm39)	Q1099R	probably damaging	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Efcab12	A	G	6: 115,788,072 (GRCm39)	I630T	probably damaging	Het
Erc2	T	C	14: 27,762,445 (GRCm39)	V736A	probably damaging	Het
Fbf1	C	T	11: 116,048,514 (GRCm39)		probably null	Het
Fndc9	C	T	11: 46,128,868 (GRCm39)	A129V	probably damaging	Het
Foxk2	CGGGGGG	CGGGGGGGGG	11: 121,151,317 (GRCm39)		probably benign	Het
Gba2	T	C	4: 43,568,000 (GRCm39)		probably null	Het
Gna12	T	A	5: 140,771,348 (GRCm39)	D61V	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Grin2b	C	A	6: 135,717,951 (GRCm39)	V714L	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hmcn1	G	T	1: 150,439,350 (GRCm39)	Y5494*	probably null	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Itgb6	T	C	2: 60,430,879 (GRCm39)	T772A	probably damaging	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Mme	T	A	3: 63,252,620 (GRCm39)	N421K	possibly damaging	Het
Mmp1b	C	T	9: 7,370,763 (GRCm39)	V331I	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nav1	G	C	1: 135,378,382 (GRCm39)		probably null	Het
Nln	A	G	13: 104,161,533 (GRCm39)	M679T	probably damaging	Het
Or1n1b	A	G	2: 36,780,536 (GRCm39)	L108P	probably damaging	Het
Or8b53	C	T	9: 38,667,332 (GRCm39)	T116I	possibly damaging	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Otop3	T	C	11: 115,235,384 (GRCm39)	F339L	probably damaging	Het
Pax7	T	C	4: 139,506,954 (GRCm39)	D361G	possibly damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Plekhh2	G	T	17: 84,905,394 (GRCm39)	R1096L	probably damaging	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Rnf43	T	A	11: 87,623,093 (GRCm39)	N731K	probably benign	Het
Robo4	C	T	9: 37,315,772 (GRCm39)	R342*	probably null	Het
Sec23ip	G	A	7: 128,355,797 (GRCm39)	V307I	probably benign	Het
Slc2a4	T	A	11: 69,836,997 (GRCm39)	N116Y	probably damaging	Het
Tox3	G	A	8: 90,975,018 (GRCm39)	Q538*	probably null	Het
Trpm4	A	G	7: 44,960,022 (GRCm39)	F771S	probably damaging	Het
Tstd3	A	T	4: 21,759,375 (GRCm39)	F132L	possibly damaging	Het
Ulk2	T	C	11: 61,715,555 (GRCm39)		probably null	Het
Unc13b	T	C	4: 43,180,404 (GRCm39)	Y3080H	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vmn2r60	A	T	7: 41,785,857 (GRCm39)	H220L	probably benign	Het
Vps13a	A	G	19: 16,680,963 (GRCm39)	S1078P	probably damaging	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zdhhc22	T	A	12: 87,035,336 (GRCm39)	T39S	probably benign	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	Het
Zfp964	G	C	8: 70,116,504 (GRCm39)	C368S	unknown	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	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
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'- CCTTAGGTGGGCATAATAGGATC -3'
(R):5'- TGTGCAGATGGGTGCTATCC -3'

Sequencing Primer
(F):5'- ATAGGGTCCATCTTGTGCAC -3'
(R):5'- CAGATGGGTGCTATCCTAGTC -3'

Posted On

2014-12-04