Mutagenetix > Incidental Mutation

Incidental Mutation 'R5268:Or6a2'

399931

Institutional Source

Beutler Lab

Gene Symbol

Or6a2

Ensembl Gene

ENSMUSG00000070417

Gene Name

olfactory receptor family 6 subfamily A member 2

Synonyms

Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7

MMRRC Submission

042860-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

R5268 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106600082-106601812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106600111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 319 (N319Y)

Ref Sequence

ENSEMBL: ENSMUSP00000150093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]

AlphaFold

Q9QWU6

Predicted Effect

probably benign
Transcript: ENSMUST00000094109
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: N319Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	313	9.2e-53	PFAM
Pfam:7tm_1	42	295	3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207280
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000208147
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211432
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000214105
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000216375
AA Change: N319Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217764

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,659,444 (GRCm39)	E299G	probably damaging	Het
Adamtsl4	C	A	3: 95,587,473 (GRCm39)	R701L	probably damaging	Het
Adgrf5	T	C	17: 43,761,890 (GRCm39)	V1195A	probably damaging	Het
Agpat5	A	G	8: 18,931,878 (GRCm39)	T333A	possibly damaging	Het
Aspm	G	T	1: 139,392,033 (GRCm39)	G795C	probably damaging	Het
Car4	C	A	11: 84,856,626 (GRCm39)	Q305K	probably benign	Het
Catsperg1	T	C	7: 28,894,672 (GRCm39)	N612S	probably benign	Het
Cdc5l	G	A	17: 45,726,511 (GRCm39)	R354W	probably damaging	Het
Cdh9	G	A	15: 16,851,099 (GRCm39)	V623I	probably benign	Het
Cfap65	A	G	1: 74,964,061 (GRCm39)	V629A	probably benign	Het
Chd1	G	A	17: 15,956,005 (GRCm39)	V535I	probably damaging	Het
Col12a1	A	G	9: 79,585,329 (GRCm39)	V1316A	probably damaging	Het
Col6a3	A	T	1: 90,712,965 (GRCm39)	D1721E	unknown	Het
Cop1	T	A	1: 159,154,734 (GRCm39)	F647L	probably damaging	Het
Corin	A	C	5: 72,500,362 (GRCm39)	S421A	probably damaging	Het
Crb2	T	C	2: 37,680,833 (GRCm39)	V587A	probably damaging	Het
Ctc1	T	A	11: 68,920,636 (GRCm39)	V646E	possibly damaging	Het
Cyp2a12	A	T	7: 26,730,643 (GRCm39)	M203L	probably benign	Het
Dcdc2c	T	A	12: 28,566,656 (GRCm39)	K336M	possibly damaging	Het
Ddx39a	G	A	8: 84,448,950 (GRCm39)	R275H	probably benign	Het
Dennd2b	A	G	7: 109,156,519 (GRCm39)	L77P	probably benign	Het
Des	A	G	1: 75,339,572 (GRCm39)	N310S	possibly damaging	Het
Dlk1	C	A	12: 109,425,764 (GRCm39)	S212R	probably benign	Het
Dnajc5b	A	G	3: 19,633,224 (GRCm39)	E149G	probably benign	Het
Dpep1	A	T	8: 123,920,828 (GRCm39)	I3F	probably benign	Het
Eml6	T	A	11: 29,753,108 (GRCm39)	R934S	probably benign	Het
Ercc6l2	T	C	13: 64,016,925 (GRCm39)	L676P	possibly damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Frem2	T	A	3: 53,560,575 (GRCm39)	I1311F	probably damaging	Het
Gldc	T	A	19: 30,123,125 (GRCm39)	M257L	probably damaging	Het
Gm8674	T	G	13: 50,055,390 (GRCm39)		noncoding transcript	Het
Gnai3	C	T	3: 108,030,857 (GRCm39)		probably null	Het
Gtf3a	A	G	5: 146,891,965 (GRCm39)	D300G	probably damaging	Het
Haus3	A	T	5: 34,323,449 (GRCm39)	V387D	probably damaging	Het
Hpf1	T	A	8: 61,346,768 (GRCm39)	F28I	possibly damaging	Het
Iars1	A	G	13: 49,843,967 (GRCm39)	D147G	probably damaging	Het
Ibtk	A	T	9: 85,625,743 (GRCm39)	D2E	probably benign	Het
Ift140	T	A	17: 25,239,601 (GRCm39)	I86K	possibly damaging	Het
Igf2bp2	T	A	16: 21,898,241 (GRCm39)	I235F	probably damaging	Het
Ighv3-8	G	T	12: 114,286,252 (GRCm39)	A30E	probably benign	Het
Kcnq5	T	A	1: 21,575,949 (GRCm39)	T252S	probably damaging	Het
Lrrc4b	A	T	7: 44,110,787 (GRCm39)	N220Y	probably damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mamdc4	T	C	2: 25,454,702 (GRCm39)	T1037A	possibly damaging	Het
Mbd5	A	T	2: 49,162,106 (GRCm39)	I863F	possibly damaging	Het
Muc4	T	A	16: 32,570,484 (GRCm39)	S515T	possibly damaging	Het
Mylk4	T	A	13: 32,892,864 (GRCm39)		probably null	Het
Neu4	G	A	1: 93,952,669 (GRCm39)	R346H	probably benign	Het
Nxpe5	T	A	5: 138,238,200 (GRCm39)	Y253*	probably null	Het
Olfml2b	A	T	1: 170,477,330 (GRCm39)	E155V	probably damaging	Het
Or14a258	A	G	7: 86,034,867 (GRCm39)	*334Q	probably null	Het
Or8a1b	T	A	9: 37,623,300 (GRCm39)	I92F	probably damaging	Het
Pamr1	G	A	2: 102,417,029 (GRCm39)	A114T	probably damaging	Het
Pdzd2	T	A	15: 12,592,263 (GRCm39)	N127I	probably damaging	Het
Pglyrp4	C	T	3: 90,634,271 (GRCm39)	L5F	probably damaging	Het
Plce1	T	A	19: 38,747,279 (GRCm39)	S1667T	possibly damaging	Het
Qser1	A	T	2: 104,617,776 (GRCm39)	V1012E	possibly damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rcn3	A	T	7: 44,736,203 (GRCm39)	D168E	probably damaging	Het
Rdh1	T	G	10: 127,595,832 (GRCm39)	V9G	possibly damaging	Het
Rin2	A	G	2: 145,686,680 (GRCm39)	T70A	probably benign	Het
Rnf207	T	C	4: 152,398,346 (GRCm39)	D276G	probably damaging	Het
Rtel1	C	T	2: 180,982,354 (GRCm39)	S368L	probably benign	Het
Slc15a5	C	A	6: 138,056,751 (GRCm39)	C55F	probably damaging	Het
Slc36a4	T	C	9: 15,638,212 (GRCm39)	F213L	possibly damaging	Het
Snhg16	G	T	11: 116,562,582 (GRCm39)	M18I	probably benign	Het
Spata25	C	T	2: 164,669,954 (GRCm39)	G19D	probably damaging	Het
Tas2r102	A	T	6: 132,739,360 (GRCm39)	L89F	probably damaging	Het
Tbc1d1	A	G	5: 64,481,910 (GRCm39)	K704E	probably damaging	Het
Tert	T	G	13: 73,775,473 (GRCm39)	S75A	probably damaging	Het
Tiparp	T	A	3: 65,454,986 (GRCm39)	L195Q	possibly damaging	Het
Tmem205	A	C	9: 21,837,380 (GRCm39)	Y57*	probably null	Het
Tomm22	A	G	15: 79,555,428 (GRCm39)	R5G	probably benign	Het
Trav10	A	T	14: 53,743,515 (GRCm39)	S39C	probably benign	Het
Trav6-2	T	A	14: 52,905,205 (GRCm39)	N75K	probably benign	Het
Trio	T	C	15: 27,748,372 (GRCm39)	S2427G	probably benign	Het
Ttc41	C	A	10: 86,580,342 (GRCm39)	H763N	possibly damaging	Het
Usp29	A	T	7: 6,964,583 (GRCm39)	N142I	probably damaging	Het
Vmn1r204	G	T	13: 22,740,912 (GRCm39)	W181L	probably damaging	Het
Vmn2r76	G	A	7: 85,875,267 (GRCm39)	T570M	probably damaging	Het
Wdr90	A	G	17: 26,069,819 (GRCm39)	L1173P	probably damaging	Het
Wnt9a	T	A	11: 59,219,396 (GRCm39)	C141S	probably damaging	Het
Zfp462	A	T	4: 55,012,299 (GRCm39)	I1422L	probably benign	Het

Other mutations in Or6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02270:Or6a2	APN	7	106,600,630 (GRCm39)	missense	probably damaging	1.00
IGL02620:Or6a2	APN	7	106,600,825 (GRCm39)	nonsense	probably null
IGL02942:Or6a2	APN	7	106,600,561 (GRCm39)	missense	possibly damaging	0.88
R1171:Or6a2	UTSW	7	106,600,791 (GRCm39)	missense	probably benign
R1956:Or6a2	UTSW	7	106,600,342 (GRCm39)	missense	probably damaging	1.00
R2128:Or6a2	UTSW	7	106,600,455 (GRCm39)	missense	probably damaging	1.00
R2342:Or6a2	UTSW	7	106,600,116 (GRCm39)	missense	probably benign
R2351:Or6a2	UTSW	7	106,600,883 (GRCm39)	nonsense	probably null
R3752:Or6a2	UTSW	7	106,600,682 (GRCm39)	nonsense	probably null
R4197:Or6a2	UTSW	7	106,600,245 (GRCm39)	missense	probably damaging	0.97
R4237:Or6a2	UTSW	7	106,600,536 (GRCm39)	missense	probably damaging	1.00
R4787:Or6a2	UTSW	7	106,600,293 (GRCm39)	missense	probably benign	0.00
R4795:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R4796:Or6a2	UTSW	7	106,600,542 (GRCm39)	missense	probably damaging	1.00
R5412:Or6a2	UTSW	7	106,600,842 (GRCm39)	missense	probably damaging	0.99
R5474:Or6a2	UTSW	7	106,600,296 (GRCm39)	missense	probably damaging	0.98
R5542:Or6a2	UTSW	7	106,600,286 (GRCm39)	missense	probably damaging	1.00
R5792:Or6a2	UTSW	7	106,600,650 (GRCm39)	missense	possibly damaging	0.61
R6149:Or6a2	UTSW	7	106,600,807 (GRCm39)	missense	probably benign
R7552:Or6a2	UTSW	7	106,600,534 (GRCm39)	missense	probably benign
R7838:Or6a2	UTSW	7	106,600,514 (GRCm39)	nonsense	probably null
R8177:Or6a2	UTSW	7	106,600,663 (GRCm39)	missense	probably damaging	1.00
R9666:Or6a2	UTSW	7	106,600,099 (GRCm39)	missense	probably benign	0.03
R9787:Or6a2	UTSW	7	106,600,899 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-07-06