Mutagenetix > Incidental Mutations

Incidental Mutation 'R7048:Taar1'

547447

Institutional Source

Beutler Lab

Gene Symbol

Taar1

Ensembl Gene

ENSMUSG00000056379

Gene Name

trace amine-associated receptor 1

Synonyms

Trar1, Tar1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23920356-23921469 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23920824 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 140 (L140P)

Ref Sequence

ENSEMBL: ENSMUSP00000049527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051532]

Predicted Effect

probably benign
Transcript: ENSMUST00000051532
AA Change: L140P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000049527
Gene: ENSMUSG00000056379
AA Change: L140P

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	33	316	1.4e-11	PFAM
Pfam:7tm_1	39	301	2.4e-62	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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 activated by trace amines. The encoded protein responds little or not at all to dopamine, serotonin, epinephrine, or histamine, but responds well to beta-phenylethylamine, p-tyramine, octopamine, and tryptamine. While primarily functioning in neurologic systems, there is evidence that this gene is involved in blood cell and immunologic functions as well. This gene is thought to be intronless. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null mutation display decreased prepulse inhibition and increased sensitivity to amphetamines. Mice homozygous for another knock-out allele exhibit increased sensitivity to MDMA-induced hyperthermia, brain dopamine and serotonin levels, and induced hyperactivity. [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
Adgrl2	T	C	3: 148,846,929	D629G	probably damaging	Het
Akap11	T	A	14: 78,512,514	Q811L		Het
Ank2	T	A	3: 127,025,618	Q468L	probably benign	Het
Ano3	A	T	2: 110,682,771	Y626*	probably null	Het
Ap1m1	A	G	8: 72,249,798	N114S	probably damaging	Het
Asb3	T	A	11: 31,101,121	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,645,356	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,305,586	Y68H	probably benign	Het
Bbs5	T	C	2: 69,654,361	I125T	probably benign	Het
Cd180	A	G	13: 102,704,923	N159S	probably damaging	Het
Cd37	T	C	7: 45,238,464		probably benign	Het
Cdk14	T	A	5: 5,093,005	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,307,543	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,470	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,552,736	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491	S124R	probably benign	Het
Dlec1	A	T	9: 119,143,404		probably null	Het
Dnah17	T	C	11: 118,046,118	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,203,414		probably null	Het
Dusp23	A	T	1: 172,631,686	Y136*	probably null	Het
Eif4b	A	G	15: 102,093,136		probably benign	Het
F13a1	A	G	13: 36,898,143	V529A	probably benign	Het
Fhl2	A	G	1: 43,123,648	Y236H	probably damaging	Het
Gm826	C	T	2: 160,327,106	W94*	probably null	Het
Gpsm2	C	T	3: 108,703,045	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,599,653		probably null	Het
Ifit1bl2	T	C	19: 34,619,151	D355G	probably benign	Het
Itga8	A	G	2: 12,111,084	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,849,467	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,169,048	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,569,306	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,244,169	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969	N5301D	probably benign	Het
Mest	T	G	6: 30,742,724	H108Q	probably damaging	Het
Moxd1	C	A	10: 24,281,476	D335E	probably damaging	Het
Ncf2	A	C	1: 152,808,170	N47H	probably benign	Het
Npc1	A	G	18: 12,204,765		probably null	Het
Olfr113	A	T	17: 37,575,223	S67T	probably damaging	Het
Pcid2	A	G	8: 13,078,243	V386A	probably benign	Het
Phactr2	T	A	10: 13,245,424	T444S	probably benign	Het
Plekha7	T	C	7: 116,148,324	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Pramef20	T	C	4: 144,377,184	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,623	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,732,220	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,210,326	D538G	probably benign	Het
Rims1	A	G	1: 22,472,820	S551P	probably damaging	Het
Rrnad1	A	G	3: 87,929,860	I36T	probably damaging	Het
Rsrc1	A	G	3: 67,180,831	D166G	probably damaging	Het
Selenon	T	C	4: 134,542,843	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,377,565	L168H	probably damaging	Het
Smc3	T	C	19: 53,629,251	Y560H	probably benign	Het
Syce1	C	T	7: 140,779,368	D147N	possibly damaging	Het
Syt10	A	C	15: 89,790,805	V446G	probably damaging	Het
Tfpi2	C	A	6: 3,968,032	C36F	probably damaging	Het
Thoc5	G	A	11: 4,926,237		probably null	Het
Tnrc6c	T	A	11: 117,721,974	N319K	probably benign	Het
Trhr2	C	T	8: 122,358,679	D189N	probably damaging	Het
Trim42	A	T	9: 97,363,421	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,088,302	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,194,319	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,929,376	T258I	possibly damaging	Het
Washc2	T	C	6: 116,220,583	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,774,744		probably benign	Het
Zzef1	T	G	11: 72,866,699	Y1193*	probably null	Het

Other mutations in Taar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Taar1	APN	10	23920446	missense	probably benign	0.00
R0022:Taar1	UTSW	10	23920727	missense	probably benign	0.45
R0126:Taar1	UTSW	10	23920547	missense	probably benign	0.00
R0442:Taar1	UTSW	10	23920482	missense	possibly damaging	0.80
R0720:Taar1	UTSW	10	23921073	missense	probably damaging	1.00
R0931:Taar1	UTSW	10	23921283	missense	probably damaging	1.00
R1270:Taar1	UTSW	10	23920533	missense	probably damaging	1.00
R1834:Taar1	UTSW	10	23921189	missense	probably benign	0.04
R2137:Taar1	UTSW	10	23921270	missense	probably benign
R3765:Taar1	UTSW	10	23921307	missense	probably damaging	1.00
R3873:Taar1	UTSW	10	23920584	missense	probably damaging	1.00
R5334:Taar1	UTSW	10	23920545	missense	probably damaging	1.00
R5418:Taar1	UTSW	10	23921316	missense	possibly damaging	0.91
R5578:Taar1	UTSW	10	23920820	missense	possibly damaging	0.71
R7096:Taar1	UTSW	10	23920911	missense	possibly damaging	0.48
R7163:Taar1	UTSW	10	23921020	missense	probably benign	0.38
R7707:Taar1	UTSW	10	23921237	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GGCCATTGTCGACTTTCTGC -3'
(R):5'- AGGAAGTCATGAACGCCAGTAC -3'

Sequencing Primer
(F):5'- GCTGTCTGATAATGCCCTGCAG -3'
(R):5'- CCCCAGATACTTTACTAAAGAAGGG -3'

Posted On

2019-05-13