Mutagenetix > Incidental Mutation

Incidental Mutation 'R7595:Taar6'

587680

Institutional Source

Beutler Lab

Gene Symbol

Taar6

Ensembl Gene

ENSMUSG00000045111

Gene Name

trace amine-associated receptor 6

Synonyms

LOC215855

MMRRC Submission

045640-MU

Accession Numbers

Essential gene?

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

Stock #

R7595 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23860507-23861544 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23860968 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 193 (V193I)

Ref Sequence

ENSEMBL: ENSMUSP00000097603 (fasta)

Gene Model

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

AlphaFold

Q5QD13

Predicted Effect

probably benign
Transcript: ENSMUST00000057080
AA Change: V193I

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

SMART Domains

Protein: ENSMUSP00000097603
Gene: ENSMUSG00000045111
AA Change: V193I

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

0.0732

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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
4930516K23Rik	T	C	7: 103,708,470 (GRCm39)	E113G	probably damaging	Het
Adamts16	A	G	13: 70,878,234 (GRCm39)	F1177S	probably damaging	Het
Alox12	T	A	11: 70,133,230 (GRCm39)	E658V	probably damaging	Het
Anxa6	C	A	11: 54,875,911 (GRCm39)	V591L	probably benign	Het
Atp6ap1l	A	T	13: 91,039,135 (GRCm39)	S141T	probably damaging	Het
Bcar1	A	C	8: 112,447,625 (GRCm39)	N117K	probably benign	Het
Cdh22	A	G	2: 164,954,383 (GRCm39)	S713P	probably benign	Het
Cideb	T	C	14: 55,992,261 (GRCm39)	D144G	probably damaging	Het
Coch	T	A	12: 51,645,016 (GRCm39)	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,189,089 (GRCm39)	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,378,633 (GRCm39)	L331R	probably damaging	Het
Dthd1	A	G	5: 62,976,058 (GRCm39)	D244G	probably benign	Het
Dytn	T	C	1: 63,698,161 (GRCm39)	E282G	probably damaging	Het
Eml4	A	G	17: 83,763,513 (GRCm39)	Q576R	probably benign	Het
Fa2h	T	A	8: 112,082,122 (GRCm39)	I175F	probably benign	Het
Fv1	A	G	4: 147,954,627 (GRCm39)	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833 (GRCm39)	S88C	probably damaging	Het
Gm5592	A	G	7: 40,935,867 (GRCm39)	D123G	probably damaging	Het
Golph3l	A	G	3: 95,517,094 (GRCm39)	T201A	probably benign	Het
Ikbip	A	G	10: 90,932,447 (GRCm39)	S364G	probably benign	Het
Kcnc3	G	A	7: 44,240,893 (GRCm39)	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,536,704 (GRCm39)	D641E	probably benign	Het
Kif26a	C	T	12: 112,145,759 (GRCm39)	P1757S	probably benign	Het
Klf14	T	C	6: 30,935,475 (GRCm39)	K53R	probably benign	Het
Klk1b4	A	G	7: 43,860,132 (GRCm39)	D82G	probably benign	Het
Ly75	A	G	2: 60,124,171 (GRCm39)	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 39,879,221 (GRCm39)	Y225*	probably null	Het
Or8g20	A	C	9: 39,395,611 (GRCm39)	F313V	probably benign	Het
Pcsk4	T	A	10: 80,157,935 (GRCm39)	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,358,917 (GRCm39)	D375E	probably damaging	Het
Primpol	A	G	8: 47,063,650 (GRCm39)	L2S	probably benign	Het
Ralgapb	G	A	2: 158,268,085 (GRCm39)	V63I	possibly damaging	Het
Rptor	T	A	11: 119,634,779 (GRCm39)	N198K	possibly damaging	Het
Samd5	T	C	10: 9,504,738 (GRCm39)	N172S	probably benign	Het
Sorbs1	A	T	19: 40,303,097 (GRCm39)	H542Q	probably damaging	Het
Spopfm1	A	G	3: 94,173,985 (GRCm39)	E327G	probably benign	Het
Spopfm3	A	G	3: 94,105,724 (GRCm39)	D14G	probably benign	Het
Srgn	T	A	10: 62,343,785 (GRCm39)		probably benign	Het
Tmem132a	G	A	19: 10,835,569 (GRCm39)	A987V	probably damaging	Het
Trank1	T	C	9: 111,195,059 (GRCm39)	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,787,135 (GRCm39)	L714P	probably benign	Het
Wdfy4	C	T	14: 32,696,111 (GRCm39)		probably null	Het
Zswim9	T	C	7: 12,994,998 (GRCm39)	D386G	probably benign	Het
Zwilch	A	G	9: 64,056,546 (GRCm39)		probably benign	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
R6327:Taar6	UTSW	10	23,861,177 (GRCm39)	missense	probably damaging	1.00
R6493:Taar6	UTSW	10	23,861,021 (GRCm39)	missense	probably benign	0.36
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'- TAATCCCCAGGGTTTTGGC -3'
(R):5'- ACAGGTACATCGCTGTCACG -3'

Sequencing Primer
(F):5'- CCCAGGGTTTTGGCTGCTTTTC -3'
(R):5'- TACATCGCTGTCACGGACCC -3'

Posted On

2019-10-24