Mutagenetix > Incidental Mutation

Incidental Mutation 'R6327:Taar6'

510478

Institutional Source

Beutler Lab

Gene Symbol

Taar6

Ensembl Gene

ENSMUSG00000045111

Gene Name

trace amine-associated receptor 6

Synonyms

LOC215855

MMRRC Submission

044481-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.179) question?

Stock #

R6327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23860507-23861544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23861177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 123 (L123P)

Ref Sequence

ENSEMBL: ENSMUSP00000097603 (fasta)

Gene Model

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

AlphaFold

Q5QD13

Predicted Effect

probably damaging
Transcript: ENSMUST00000057080
AA Change: L123P

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

SMART Domains

Protein: ENSMUSP00000097603
Gene: ENSMUSG00000045111
AA Change: L123P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,655 (GRCm39)		probably null	Het
Birc6	C	A	17: 74,969,774 (GRCm39)	H383Q	probably damaging	Het
C2	C	A	17: 35,083,079 (GRCm39)	A431S	probably benign	Het
C3ar1	C	T	6: 122,827,105 (GRCm39)	V371M	probably damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Ckap2l	A	G	2: 129,127,414 (GRCm39)	S255P	probably damaging	Het
Clca3a1	T	A	3: 144,436,558 (GRCm39)	I842F	probably benign	Het
Cmc2	G	T	8: 117,620,896 (GRCm39)	H28Q	probably damaging	Het
Col11a2	C	T	17: 34,262,291 (GRCm39)	P176L	probably benign	Het
Csmd3	T	C	15: 47,744,783 (GRCm39)	D1404G	probably damaging	Het
Dld	G	A	12: 31,382,190 (GRCm39)	P506S	probably benign	Het
Dsg3	T	C	18: 20,672,927 (GRCm39)	M866T	probably benign	Het
Ehd1	T	C	19: 6,348,375 (GRCm39)	I451T	possibly damaging	Het
Fosb	T	C	7: 19,041,152 (GRCm39)	T114A	probably benign	Het
Foxd4	T	A	19: 24,878,198 (GRCm39)	M1L	possibly damaging	Het
Fstl5	T	A	3: 76,615,108 (GRCm39)	I723N	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Hdlbp	A	G	1: 93,357,186 (GRCm39)	S299P	possibly damaging	Het
Mast4	G	A	13: 102,897,890 (GRCm39)	R650C	probably damaging	Het
Micu3	A	G	8: 40,819,238 (GRCm39)	T306A	probably benign	Het
Mylk2	A	G	2: 152,755,613 (GRCm39)	Q259R	possibly damaging	Het
Nfkbiz	T	C	16: 55,642,325 (GRCm39)	N31S	probably damaging	Het
Nisch	A	T	14: 30,893,444 (GRCm39)		probably benign	Het
Nudt17	T	C	3: 96,615,080 (GRCm39)		probably benign	Het
Oprm1	A	C	10: 6,780,063 (GRCm39)	I242L	probably damaging	Het
Or13a26	T	C	7: 140,284,616 (GRCm39)	W151R	probably damaging	Het
Or14c39	T	C	7: 86,343,760 (GRCm39)	V32A	probably benign	Het
Or2y1d	A	C	11: 49,321,828 (GRCm39)	H175P	probably damaging	Het
Otud6b	A	G	4: 14,826,496 (GRCm39)		probably benign	Het
Pamr1	A	T	2: 102,472,519 (GRCm39)	D606V	probably damaging	Het
Pcf11	T	C	7: 92,308,817 (GRCm39)		probably benign	Het
Pom121l2	T	C	13: 22,166,502 (GRCm39)	S258P	probably damaging	Het
Rcsd1	T	A	1: 165,483,403 (GRCm39)	D196V	possibly damaging	Het
Sbf2	C	T	7: 110,040,759 (GRCm39)	R356Q	probably damaging	Het
Serpinf1	A	G	11: 75,304,731 (GRCm39)		probably null	Het
Slc22a30	T	G	19: 8,313,086 (GRCm39)		probably benign	Het
Strn4	G	T	7: 16,550,384 (GRCm39)	S36I	probably benign	Het
Thbs1	G	T	2: 117,943,137 (GRCm39)	R5L	unknown	Het
Timp3	T	C	10: 86,181,650 (GRCm39)	Y174H	probably benign	Het
Trpm2	C	T	10: 77,768,061 (GRCm39)	V813M	probably damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Vcan	A	T	13: 89,852,951 (GRCm39)	S670T	probably damaging	Het
Vmn1r65	A	T	7: 6,011,651 (GRCm39)	N194K	possibly damaging	Het

Other mutations in Taar6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Taar6	APN	10	23,861,406 (GRCm39)	missense	probably benign	0.15
IGL00918:Taar6	APN	10	23,861,480 (GRCm39)	missense	probably damaging	1.00
IGL01060:Taar6	APN	10	23,860,970 (GRCm39)	missense	probably benign
IGL02608:Taar6	APN	10	23,861,081 (GRCm39)	missense	probably benign	0.01
R0042:Taar6	UTSW	10	23,861,021 (GRCm39)	missense	probably benign	0.36
R0042:Taar6	UTSW	10	23,861,021 (GRCm39)	missense	probably benign	0.36
R0360:Taar6	UTSW	10	23,861,046 (GRCm39)	missense	probably benign	0.01
R0364:Taar6	UTSW	10	23,861,046 (GRCm39)	missense	probably benign	0.01
R0746:Taar6	UTSW	10	23,861,258 (GRCm39)	missense	probably benign	0.43
R1637:Taar6	UTSW	10	23,861,079 (GRCm39)	missense	probably benign	0.12
R4893:Taar6	UTSW	10	23,861,298 (GRCm39)	missense	probably benign
R4944:Taar6	UTSW	10	23,860,613 (GRCm39)	missense	probably damaging	1.00
R4951:Taar6	UTSW	10	23,861,106 (GRCm39)	missense	probably benign	0.09
R5173:Taar6	UTSW	10	23,861,250 (GRCm39)	missense	probably damaging	1.00
R5181:Taar6	UTSW	10	23,860,683 (GRCm39)	missense	possibly damaging	0.76
R5919:Taar6	UTSW	10	23,861,168 (GRCm39)	missense	probably damaging	1.00
R5988:Taar6	UTSW	10	23,861,154 (GRCm39)	missense	probably damaging	0.98
R6493:Taar6	UTSW	10	23,861,021 (GRCm39)	missense	probably benign	0.36
R7595:Taar6	UTSW	10	23,860,968 (GRCm39)	missense	probably benign
R7802:Taar6	UTSW	10	23,861,151 (GRCm39)	missense	probably benign	0.02
R8053:Taar6	UTSW	10	23,861,144 (GRCm39)	missense	possibly damaging	0.59
R8506:Taar6	UTSW	10	23,861,529 (GRCm39)	missense	probably benign	0.01
R9169:Taar6	UTSW	10	23,861,273 (GRCm39)	missense	probably damaging	0.99
R9272:Taar6	UTSW	10	23,860,903 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AATTCCTCCAGGCCGTCATC -3'
(R):5'- CAGTGTTTGGAAACCTCATGG -3'

Sequencing Primer
(F):5'- CGTCATCATAAACCCCTGTGTAG -3'
(R):5'- ACCTCATGGTGATGATATCCATC -3'

Posted On

2018-04-02