Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Tas2r120'

555112

Institutional Source

Beutler Lab

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 #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132633920-132634807 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132634297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 126 (N126K)

Ref Sequence

ENSEMBL: ENSMUSP00000071626 (fasta)

Gene Model

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

AlphaFold

Q7M721

Predicted Effect

probably benign
Transcript: ENSMUST00000071707
AA Change: N126K

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

SMART Domains

Protein: ENSMUSP00000071626
Gene: ENSMUSG00000059382
AA Change: N126K

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

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably 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
IGL01860:Tas2r120	APN	6	132,634,227 (GRCm39)	missense	probably damaging	0.99
IGL01891:Tas2r120	APN	6	132,634,807 (GRCm39)	makesense	probably null
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

Predicted Primers

PCR Primer
(F):5'- ACGAACTGGCATTCACATGTG -3'
(R):5'- ATTAAGAGCAGAACACAGTTCAGTG -3'

Sequencing Primer
(F):5'- TGTGTTTACTCCAGACACAGAC -3'
(R):5'- GCAGAACACAGTTCAGTGATATAC -3'

Posted On

2019-06-07