Mutagenetix > Incidental Mutation

Incidental Mutation 'R4090:Taar8a'

317568

Institutional Source

Beutler Lab

Gene Symbol

Taar8a

Ensembl Gene

ENSMUSG00000096442

Gene Name

trace amine-associated receptor 8A

Synonyms

LOC215859

MMRRC Submission

040983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R4090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23952398-23953432 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23953062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 222 (V222E)

Ref Sequence

ENSEMBL: ENSMUSP00000062719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051133]

AlphaFold

Q5QD07

Predicted Effect

probably damaging
Transcript: ENSMUST00000051133
AA Change: V222E

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062719
Gene: ENSMUSG00000096442
AA Change: V222E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	40	244	3.9e-8	PFAM
Pfam:7TM_GPCR_Srsx	42	327	7.1e-15	PFAM
Pfam:7tm_1	48	312	9.1e-58	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Apc2	A	G	10: 80,141,378 (GRCm39)	K268E	probably damaging	Het
Arhgef2	G	C	3: 88,551,185 (GRCm39)	R765P	probably benign	Het
Bptf	T	C	11: 106,972,349 (GRCm39)	K840E	probably damaging	Het
Carf	A	G	1: 60,175,506 (GRCm39)	R245G	possibly damaging	Het
Cd36	A	G	5: 17,990,718 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cplane1	T	A	15: 8,241,842 (GRCm39)		probably null	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fam83f	A	T	15: 80,576,393 (GRCm39)	N348I	possibly damaging	Het
Gja8	A	G	3: 96,826,468 (GRCm39)	V398A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm12789	A	T	4: 101,845,526 (GRCm39)	T72S	possibly damaging	Het
Gm1988	A	G	7: 38,820,292 (GRCm39)		noncoding transcript	Het
Gm21370	A	G	13: 120,488,489 (GRCm39)	V20A	probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hsd17b13	T	A	5: 104,113,720 (GRCm39)	S245C	probably benign	Het
Htr1f	T	C	16: 64,746,324 (GRCm39)	K323E	probably benign	Het
Igkc	T	C	6: 70,703,442 (GRCm39)		probably benign	Het
Ksr1	T	C	11: 78,918,303 (GRCm39)	E535G	probably damaging	Het
Mlxipl	A	T	5: 135,161,381 (GRCm39)	E433D	probably benign	Het
Npc1	T	C	18: 12,331,219 (GRCm39)		probably null	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e29	A	G	11: 73,667,667 (GRCm39)	L162P	probably damaging	Het
Or6y1	A	G	1: 174,276,500 (GRCm39)	T104A	probably benign	Het
Or7g17	T	C	9: 18,768,398 (GRCm39)	I159T	probably benign	Het
Pcdha3	A	G	18: 37,081,504 (GRCm39)	R749G	probably benign	Het
Ppme1	A	T	7: 99,997,044 (GRCm39)	N122K	possibly damaging	Het
Rasal1	G	A	5: 120,813,674 (GRCm39)	V657M	possibly damaging	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Rragd	C	T	4: 33,007,155 (GRCm39)	T161M	probably damaging	Het
Slurp1	T	C	15: 74,598,724 (GRCm39)	H89R	possibly damaging	Het
Snap23	A	G	2: 120,416,061 (GRCm39)	I42V	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Tmem171	A	T	13: 98,829,096 (GRCm39)	V18D	probably damaging	Het
Topors	T	C	4: 40,260,794 (GRCm39)	D830G	unknown	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Tubg1	T	A	11: 101,015,364 (GRCm39)	M270K	possibly damaging	Het
Vmn1r188	T	C	13: 22,272,772 (GRCm39)	V242A	probably benign	Het
Vmn1r19	T	A	6: 57,381,720 (GRCm39)	I91N	probably damaging	Het
Vmn2r12	T	A	5: 109,239,412 (GRCm39)	M384L	probably benign	Het
Wdr26	T	C	1: 181,030,679 (GRCm39)	E205G	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp398	T	A	6: 47,843,159 (GRCm39)	C272S	probably damaging	Het
Zfp975	A	G	7: 42,312,298 (GRCm39)	V105A	probably benign	Het

Other mutations in Taar8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Taar8a	APN	10	23,952,759 (GRCm39)	missense	probably damaging	1.00
IGL01546:Taar8a	APN	10	23,952,813 (GRCm39)	missense	possibly damaging	0.95
IGL01597:Taar8a	APN	10	23,952,756 (GRCm39)	missense	possibly damaging	0.96
IGL02387:Taar8a	APN	10	23,953,260 (GRCm39)	missense	possibly damaging	0.93
IGL02815:Taar8a	APN	10	23,953,278 (GRCm39)	missense	probably benign	0.02
R0762:Taar8a	UTSW	10	23,952,975 (GRCm39)	missense	probably benign	0.34
R1690:Taar8a	UTSW	10	23,952,813 (GRCm39)	missense	probably damaging	1.00
R2891:Taar8a	UTSW	10	23,953,028 (GRCm39)	missense	probably benign	0.02
R3889:Taar8a	UTSW	10	23,952,923 (GRCm39)	missense	probably benign	0.00
R3962:Taar8a	UTSW	10	23,953,054 (GRCm39)	missense	probably damaging	0.99
R6580:Taar8a	UTSW	10	23,952,791 (GRCm39)	missense	probably damaging	0.99
R6605:Taar8a	UTSW	10	23,952,674 (GRCm39)	missense	possibly damaging	0.88
R7422:Taar8a	UTSW	10	23,952,762 (GRCm39)	missense	probably damaging	1.00
R7571:Taar8a	UTSW	10	23,953,306 (GRCm39)	nonsense	probably null
R8265:Taar8a	UTSW	10	23,952,839 (GRCm39)	missense	probably damaging	1.00
R9317:Taar8a	UTSW	10	23,952,753 (GRCm39)	missense	probably benign	0.00
R9371:Taar8a	UTSW	10	23,952,753 (GRCm39)	missense	probably benign	0.00
R9710:Taar8a	UTSW	10	23,952,714 (GRCm39)	missense	probably damaging	0.97
R9755:Taar8a	UTSW	10	23,952,995 (GRCm39)	missense	probably benign	0.01
X0022:Taar8a	UTSW	10	23,953,406 (GRCm39)	missense	possibly damaging	0.93
X0062:Taar8a	UTSW	10	23,953,279 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGTCTGGAATTTGCATCAGC -3'
(R):5'- ACCAATGCGTCAATTGTGTATGG -3'

Sequencing Primer
(F):5'- GTACAGCAGTGCAGTGTTTTAC -3'
(R):5'- CGTCAATTGTGTATGGGAGCCAC -3'

Posted On

2015-05-15