Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01860:Tas2r120'

178277

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tas2r120

Ensembl Gene

ENSMUSG00000059382

Gene Name

taste receptor, type 2, member 120

Synonyms

Tas2r20, mGR20, mt2r47, T2R20

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

IGL01860

Quality Score

Status

Chromosome

Chromosomal Location

132633920-132634807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132634227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 103 (M103K)

Ref Sequence

ENSEMBL: ENSMUSP00000071626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071707]

AlphaFold

Q7M721

Predicted Effect

probably damaging
Transcript: ENSMUST00000071707
AA Change: M103K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: M103K

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	294	2.4e-77	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TAS2R46 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Sep 2009]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,853,914 (GRCm39)	N248Y	possibly damaging	Het
Adamts13	G	A	2: 26,868,023 (GRCm39)	V128M	probably damaging	Het
Agl	A	T	3: 116,566,175 (GRCm39)		probably benign	Het
Arfgef1	A	T	1: 10,224,621 (GRCm39)	M1405K	probably damaging	Het
Atp6v1a	G	T	16: 43,920,319 (GRCm39)	L426M	probably damaging	Het
Calhm6	A	G	10: 34,002,561 (GRCm39)	V174A	probably damaging	Het
Cdc123	A	G	2: 5,808,752 (GRCm39)		probably benign	Het
Cept1	A	G	3: 106,438,444 (GRCm39)		probably benign	Het
Cipc	T	A	12: 87,007,047 (GRCm39)	D60E	probably damaging	Het
Efcab3	T	C	11: 104,581,747 (GRCm39)	S30P	probably benign	Het
Exosc3	A	G	4: 45,319,659 (GRCm39)	I121T	probably benign	Het
Fbln5	A	G	12: 101,776,128 (GRCm39)	Y89H	probably damaging	Het
Fhod3	T	C	18: 25,030,738 (GRCm39)	F128L	probably damaging	Het
Fhod3	T	A	18: 25,037,005 (GRCm39)	I154N	probably damaging	Het
Fpgt	T	C	3: 154,792,483 (GRCm39)	T515A	probably benign	Het
Gas2l2	G	A	11: 83,312,906 (GRCm39)	T802I	probably benign	Het
Gm10710	T	A	3: 83,035,156 (GRCm39)		probably benign	Het
Hdac4	A	G	1: 91,861,417 (GRCm39)	M1051T	probably benign	Het
Heatr5b	A	G	17: 79,115,909 (GRCm39)	V849A	probably damaging	Het
Helb	T	C	10: 119,938,738 (GRCm39)	I579V	probably damaging	Het
Hspa1l	A	G	17: 35,197,787 (GRCm39)	I609V	probably benign	Het
Itgam	C	A	7: 127,670,115 (GRCm39)	Q136K	probably benign	Het
Kcnc1	T	C	7: 46,077,554 (GRCm39)	L452P	probably damaging	Het
Ltbp4	T	A	7: 27,019,071 (GRCm39)	T1083S	probably damaging	Het
Mki67	T	C	7: 135,300,686 (GRCm39)	I1449M	probably damaging	Het
Nalf1	A	T	8: 9,257,831 (GRCm39)	V439E	probably damaging	Het
P2rx5	T	A	11: 73,056,385 (GRCm39)	V103E	probably damaging	Het
Pals1	T	C	12: 78,877,681 (GRCm39)	V531A	possibly damaging	Het
Pappa	A	G	4: 65,123,329 (GRCm39)	D888G	possibly damaging	Het
Pcdhb21	G	T	18: 37,647,958 (GRCm39)	M362I	probably benign	Het
Pde1a	A	G	2: 79,705,628 (GRCm39)	S333P	probably damaging	Het
Ppm1j	A	G	3: 104,691,408 (GRCm39)	T299A	probably damaging	Het
Pramel46	G	A	5: 95,418,510 (GRCm39)	T162I	probably benign	Het
Ptdss2	A	G	7: 140,732,749 (GRCm39)	E168G	probably damaging	Het
Rspry1	A	G	8: 95,376,444 (GRCm39)	N322S	probably benign	Het
Slc7a9	T	A	7: 35,156,485 (GRCm39)	V309E	probably damaging	Het
Slco6c1	A	G	1: 97,003,548 (GRCm39)		probably benign	Het
Tbxas1	T	A	6: 38,925,561 (GRCm39)	F59I	probably damaging	Het
Tfpi	A	G	2: 84,274,378 (GRCm39)	S203P	probably benign	Het
Tram2	T	C	1: 21,074,083 (GRCm39)	N285S	possibly damaging	Het
Trio	T	A	15: 27,846,896 (GRCm39)	D980V	probably damaging	Het
Trpv5	T	A	6: 41,637,229 (GRCm39)	H419L	probably damaging	Het
Usp28	C	T	9: 48,943,543 (GRCm39)	R361*	probably null	Het
Vmn1r6	T	A	6: 56,979,674 (GRCm39)	L112*	probably null	Het
Vmn2r12	A	T	5: 109,240,025 (GRCm39)	N179K	probably benign	Het
Vmn2r82	G	T	10: 79,214,691 (GRCm39)	A225S	probably benign	Het
Zcchc4	A	G	5: 52,965,698 (GRCm39)	Y334C	probably damaging	Het
Zfp609	T	C	9: 65,610,116 (GRCm39)	E949G	possibly damaging	Het

Other mutations in Tas2r120

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Tas2r120	APN	6	132,634,238 (GRCm39)	missense	probably benign	0.01
IGL01725:Tas2r120	APN	6	132,634,052 (GRCm39)	nonsense	probably null
IGL01891:Tas2r120	APN	6	132,634,807 (GRCm39)	makesense	probably null
PIT4519001:Tas2r120	UTSW	6	132,634,297 (GRCm39)	missense	probably benign
R0104:Tas2r120	UTSW	6	132,634,809 (GRCm39)	splice site	probably null
R0108:Tas2r120	UTSW	6	132,634,809 (GRCm39)	splice site	probably null
R0123:Tas2r120	UTSW	6	132,634,552 (GRCm39)	nonsense	probably null
R0225:Tas2r120	UTSW	6	132,634,552 (GRCm39)	nonsense	probably null
R1812:Tas2r120	UTSW	6	132,634,564 (GRCm39)	missense	probably benign	0.02
R2254:Tas2r120	UTSW	6	132,634,572 (GRCm39)	missense	probably benign
R3110:Tas2r120	UTSW	6	132,634,731 (GRCm39)	missense	probably damaging	1.00
R3112:Tas2r120	UTSW	6	132,634,731 (GRCm39)	missense	probably damaging	1.00
R4829:Tas2r120	UTSW	6	132,634,331 (GRCm39)	missense	probably benign	0.03
R5248:Tas2r120	UTSW	6	132,634,110 (GRCm39)	missense	probably damaging	0.97
R5372:Tas2r120	UTSW	6	132,634,446 (GRCm39)	missense	possibly damaging	0.54
R6379:Tas2r120	UTSW	6	132,634,773 (GRCm39)	missense	probably benign	0.00
R7015:Tas2r120	UTSW	6	132,634,128 (GRCm39)	missense	possibly damaging	0.48
R7615:Tas2r120	UTSW	6	132,634,773 (GRCm39)	missense	probably benign	0.00
R8004:Tas2r120	UTSW	6	132,634,390 (GRCm39)	missense	possibly damaging	0.82
R8796:Tas2r120	UTSW	6	132,634,081 (GRCm39)	missense	probably damaging	1.00
R9207:Tas2r120	UTSW	6	132,634,626 (GRCm39)	nonsense	probably null
R9250:Tas2r120	UTSW	6	132,633,954 (GRCm39)	missense	probably benign	0.02
R9792:Tas2r120	UTSW	6	132,634,528 (GRCm39)	missense	possibly damaging	0.93
Z1176:Tas2r120	UTSW	6	132,634,148 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07