Mutagenetix > Incidental Mutation

Incidental Mutation 'R4944:Taar6'

383358

Institutional Source

Beutler Lab

Gene Symbol

Taar6

Ensembl Gene

ENSMUSG00000045111

Gene Name

trace amine-associated receptor 6

Synonyms

LOC215855

MMRRC Submission

042541-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.317) question?

Stock #

R4944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23984609-23985646 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23984715 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 311 (Y311C)

Ref Sequence

ENSEMBL: ENSMUSP00000097603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057080]

AlphaFold

Q5QD13

Predicted Effect

probably damaging
Transcript: ENSMUST00000057080
AA Change: Y311C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097603
Gene: ENSMUSG00000045111
AA Change: Y311C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	43	326	5.5e-13	PFAM
Pfam:7tm_1	49	311	5.9e-58	PFAM

Meta Mutation Damage Score

0.8888

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a seven-transmembrane G-protein-coupled receptor that likely functions as a receptor for endogenous trace amines. Mutations in this gene may be associated with schizophrenia.[provided by RefSeq, Feb 2010]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,934,327		probably null	Het
Angptl7	C	G	4: 148,500,077	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,402,254	N176Y	probably damaging	Het
Armc9	T	A	1: 86,274,534	S805T	probably damaging	Het
Atxn1	T	G	13: 45,566,931	H496P	probably damaging	Het
Cabin1	C	T	10: 75,721,363	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,739,421	S597P	probably damaging	Het
Catsperd	T	C	17: 56,662,744	S613P	probably damaging	Het
Cdh2	A	G	18: 16,650,409	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,228,668	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,042,190	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,376,695	I1431L	possibly damaging	Het
Csmd1	C	T	8: 15,998,772	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,837,791	I39N	probably damaging	Het
Diexf	A	T	1: 193,114,954	M530K	probably damaging	Het
Dnajc13	C	T	9: 104,167,387		probably benign	Het
Folr2	T	C	7: 101,840,290		probably null	Het
Galnt11	T	C	5: 25,265,338	I595T	probably damaging	Het
Gm884	T	C	11: 103,613,460	T2561A	possibly damaging	Het
Gp5	G	A	16: 30,309,508	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,382,240		probably benign	Het
Gprin3	T	C	6: 59,354,659	N221S	probably benign	Het
Hfm1	T	C	5: 106,874,213	E989G	possibly damaging	Het
Ints1	T	C	5: 139,758,092		probably null	Het
Josd2	T	C	7: 44,471,168	S110P	probably damaging	Het
Kat14	C	A	2: 144,375,953	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,909,764	T48I	probably damaging	Het
Lrrc24	A	G	15: 76,718,346	L113P	probably damaging	Het
Mog	T	C	17: 37,020,541	E89G	probably damaging	Het
Mon2	A	G	10: 123,038,459		probably null	Het
Mtx1	T	C	3: 89,213,898	Y143C	probably benign	Het
Nacad	T	C	11: 6,598,507	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,607,027	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,581,570	E233G	possibly damaging	Het
Oas1h	A	G	5: 120,862,783	E152G	probably damaging	Het
Olfr936	A	G	9: 39,046,862	S186P	probably damaging	Het
Ovgp1	T	C	3: 105,979,953	F222L	possibly damaging	Het
Pkhd1	T	C	1: 20,288,205	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,171,237	T644A	probably benign	Het
Plxnd1	A	G	6: 115,955,765	I1918T	probably damaging	Het
Prrxl1	G	T	14: 32,608,249	Q136H	probably damaging	Het
Psmg1	A	T	16: 95,989,612		probably benign	Het
Ptprd	G	A	4: 76,128,899	R364C	probably damaging	Het
Rgs22	T	C	15: 36,025,942	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 104,951,564	N234S	probably benign	Het
Rrp7a	T	C	15: 83,119,809		probably benign	Het
Scg2	T	A	1: 79,436,476	R177*	probably null	Het
Sema4c	C	A	1: 36,550,311	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,797,743		probably benign	Het
Slc5a3	A	G	16: 92,078,683	T543A	possibly damaging	Het
Slx4ip	T	A	2: 137,046,767	F123I	probably benign	Het
Smtn	C	T	11: 3,522,916	R737H	probably damaging	Het
Stox2	A	G	8: 47,413,265	I14T	possibly damaging	Het
Stradb	T	C	1: 58,980,440	F43L	probably benign	Het
Szt2	T	C	4: 118,388,669	D1029G	probably benign	Het
Tcea3	A	T	4: 136,268,093	N249I	probably damaging	Het
Tecta	A	G	9: 42,330,277	M2134T	probably benign	Het
Tg	G	A	15: 66,764,337	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,768,363	I19F	probably benign	Het
Top2a	T	C	11: 98,997,850	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742		probably benign	Het
Usp29	T	C	7: 6,961,928	S257P	possibly damaging	Het
Usp40	T	C	1: 87,952,355	N1038S	probably benign	Het
Vmn1r121	C	T	7: 21,097,613	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,989,032	H105L	probably benign	Het
Zgrf1	C	T	3: 127,561,868	Q248*	probably null	Het

Other mutations in Taar6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Taar6	APN	10	23985508	missense	probably benign	0.15
IGL00918:Taar6	APN	10	23985582	missense	probably damaging	1.00
IGL01060:Taar6	APN	10	23985072	missense	probably benign
IGL02608:Taar6	APN	10	23985183	missense	probably benign	0.01
R0042:Taar6	UTSW	10	23985123	missense	probably benign	0.36
R0042:Taar6	UTSW	10	23985123	missense	probably benign	0.36
R0360:Taar6	UTSW	10	23985148	missense	probably benign	0.01
R0364:Taar6	UTSW	10	23985148	missense	probably benign	0.01
R0746:Taar6	UTSW	10	23985360	missense	probably benign	0.43
R1637:Taar6	UTSW	10	23985181	missense	probably benign	0.12
R4893:Taar6	UTSW	10	23985400	missense	probably benign
R4951:Taar6	UTSW	10	23985208	missense	probably benign	0.09
R5173:Taar6	UTSW	10	23985352	missense	probably damaging	1.00
R5181:Taar6	UTSW	10	23984785	missense	possibly damaging	0.76
R5919:Taar6	UTSW	10	23985270	missense	probably damaging	1.00
R5988:Taar6	UTSW	10	23985256	missense	probably damaging	0.98
R6327:Taar6	UTSW	10	23985279	missense	probably damaging	1.00
R6493:Taar6	UTSW	10	23985123	missense	probably benign	0.36
R7595:Taar6	UTSW	10	23985070	missense	probably benign
R7802:Taar6	UTSW	10	23985253	missense	probably benign	0.02
R8053:Taar6	UTSW	10	23985246	missense	possibly damaging	0.59
R8506:Taar6	UTSW	10	23985631	missense	probably benign	0.01
R9169:Taar6	UTSW	10	23985375	missense	probably damaging	0.99
R9272:Taar6	UTSW	10	23985005	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCTCTGATGTGAGCAGCCAC -3'
(R):5'- ATCATCCTCTGAGAGCTACAAAGC -3'

Sequencing Primer
(F):5'- TGATGTGAGCAGCCACTATTC -3'
(R):5'- CCAGAGTGGCGAGAAGAGAAAG -3'

Posted On

2016-04-27