Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Or2w6'

643939

Institutional Source

Beutler Lab

Gene Symbol

Or2w6

Ensembl Gene

ENSMUSG00000049737

Gene Name

olfactory receptor family 2 subfamily W member 6

Synonyms

GA_x6K02T2QHY8-11577590-11578528, MOR256-12, Olfr1361

MMRRC Submission

067724-MU

Accession Numbers

Essential gene?

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

Stock #

R8323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21842538-21848693 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21843302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 64 (M64L)

Ref Sequence

ENSEMBL: ENSMUSP00000150315 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055615] [ENSMUST00000214321]

AlphaFold

Q8VFH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055615
AA Change: M64L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062356
Gene: ENSMUSG00000049737
AA Change: M64L

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	30	312	4.2e-10	PFAM
Pfam:7tm_4	36	313	7.7e-52	PFAM
Pfam:7tm_1	46	295	1.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214321
AA Change: M64L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,351 (GRCm39)	F6S	probably benign	Het
Braf	T	C	6: 39,620,058 (GRCm39)	T507A	possibly damaging	Het
Catsperb	A	C	12: 101,375,658 (GRCm39)	H24P	probably benign	Het
Ccdc57	G	T	11: 120,788,750 (GRCm39)	Q366K	possibly damaging	Het
Cep295	G	T	9: 15,249,529 (GRCm39)	T462K	possibly damaging	Het
Cep295	T	A	9: 15,264,357 (GRCm39)	R96S	probably damaging	Het
Cfap206	C	T	4: 34,719,647 (GRCm39)	E256K	probably benign	Het
Cfap251	A	G	5: 123,435,588 (GRCm39)	N1016S	probably benign	Het
Cldn13	A	G	5: 134,943,828 (GRCm39)	V119A	probably benign	Het
Csmd1	G	T	8: 17,266,751 (GRCm39)	C58*	probably null	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Dcbld2	T	A	16: 58,283,473 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,109 (GRCm39)	I2299V	probably benign	Het
Dsp	C	T	13: 38,356,806 (GRCm39)	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,702,223 (GRCm39)	C51*	probably null	Het
Fbxw10	G	A	11: 62,767,506 (GRCm39)	V781I	probably benign	Het
Fdps	G	T	3: 89,002,696 (GRCm39)	P151T	possibly damaging	Het
Galk2	C	T	2: 125,708,298 (GRCm39)	H16Y	probably benign	Het
Gm1110	A	G	9: 26,813,719 (GRCm39)		probably null	Het
Gm3727	C	T	14: 7,261,693 (GRCm38)	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,720,534 (GRCm39)	I13V	probably benign	Het
H2-T24	T	A	17: 36,328,431 (GRCm39)		probably null	Het
Heatr5a	C	T	12: 52,002,289 (GRCm39)	V216M	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Igfbp2	C	T	1: 72,888,780 (GRCm39)	P224S	probably damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Kif11	T	A	19: 37,372,692 (GRCm39)	F27I	possibly damaging	Het
Lcor	T	C	19: 41,572,036 (GRCm39)	S264P	probably benign	Het
Lrrc28	G	T	7: 67,245,455 (GRCm39)	T137K	unknown	Het
Lyg1	T	A	1: 37,989,018 (GRCm39)	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,940,363 (GRCm39)	Q255*	probably null	Het
Myo1h	A	G	5: 114,480,200 (GRCm39)	R512G		Het
Nmnat3	T	C	9: 98,292,276 (GRCm39)	Y174H	probably damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Nsf	C	A	11: 103,819,665 (GRCm39)	V35L	probably benign	Het
Or1e30	A	T	11: 73,677,766 (GRCm39)	M1L	probably damaging	Het
Osbpl9	A	G	4: 108,965,119 (GRCm39)	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,608,715 (GRCm39)	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,488,476 (GRCm39)	D51E	probably benign	Het
Plcl1	T	A	1: 55,736,895 (GRCm39)	D745E	possibly damaging	Het
Prss3	A	G	6: 41,351,258 (GRCm39)	L165P	probably damaging	Het
Psme4	T	A	11: 30,793,532 (GRCm39)	I1211N	probably damaging	Het
Rb1	A	G	14: 73,503,023 (GRCm39)	V416A	probably benign	Het
Rnf111	T	A	9: 70,383,204 (GRCm39)	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,377,987 (GRCm39)	V89A	probably benign	Het
Sardh	C	T	2: 27,125,576 (GRCm39)	D313N	probably damaging	Het
Scin	T	C	12: 40,129,681 (GRCm39)	I371V	probably benign	Het
Scn10a	C	A	9: 119,438,462 (GRCm39)	L1801F	possibly damaging	Het
Sele	G	A	1: 163,879,207 (GRCm39)	V281M	possibly damaging	Het
Slc17a1	C	A	13: 24,071,982 (GRCm39)	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,108,788 (GRCm39)	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,356,671 (GRCm39)	F110L	probably benign	Het
Slc51a	A	G	16: 32,295,197 (GRCm39)	S294P	probably damaging	Het
Snapc4	T	C	2: 26,254,711 (GRCm39)	E1271G	probably benign	Het
Spata31	C	A	13: 65,070,065 (GRCm39)	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,895,587 (GRCm39)	D284G	probably benign	Het
Tdrd5	T	C	1: 156,094,832 (GRCm39)	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,134,199 (GRCm39)	F245S	probably damaging	Het
Tmem170	A	T	8: 112,603,153 (GRCm39)	S39T	probably benign	Het
Trim24	G	T	6: 37,892,233 (GRCm39)		probably null	Het
Uap1	A	G	1: 169,978,635 (GRCm39)	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,803,023 (GRCm39)	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,512,252 (GRCm39)	D46E	possibly damaging	Het
Zdbf2	G	A	1: 63,342,073 (GRCm39)	V151I	possibly damaging	Het
Zfp747l1	A	T	7: 126,983,621 (GRCm39)	C494S	possibly damaging	Het
Zfp943	A	G	17: 22,211,763 (GRCm39)	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,558,235 (GRCm39)	D337E	probably benign	Het

Other mutations in Or2w6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01878:Or2w6	APN	13	21,842,953 (GRCm39)	missense	possibly damaging	0.63
IGL02025:Or2w6	APN	13	21,843,433 (GRCm39)	missense	possibly damaging	0.92
IGL02275:Or2w6	APN	13	21,843,170 (GRCm39)	missense	probably benign	0.01
IGL02831:Or2w6	APN	13	21,843,074 (GRCm39)	missense	probably benign
IGL02932:Or2w6	APN	13	21,843,001 (GRCm39)	missense	probably damaging	1.00
R0102:Or2w6	UTSW	13	21,842,905 (GRCm39)	missense	probably damaging	1.00
R0597:Or2w6	UTSW	13	21,843,316 (GRCm39)	missense	probably damaging	0.96
R1669:Or2w6	UTSW	13	21,843,456 (GRCm39)	missense	possibly damaging	0.91
R2006:Or2w6	UTSW	13	21,842,642 (GRCm39)	missense	possibly damaging	0.94
R2292:Or2w6	UTSW	13	21,843,001 (GRCm39)	missense	probably damaging	1.00
R4894:Or2w6	UTSW	13	21,843,352 (GRCm39)	missense	probably damaging	1.00
R4919:Or2w6	UTSW	13	21,842,794 (GRCm39)	missense	possibly damaging	0.59
R5339:Or2w6	UTSW	13	21,843,404 (GRCm39)	missense	probably benign	0.37
R5815:Or2w6	UTSW	13	21,842,707 (GRCm39)	missense	probably damaging	1.00
R6248:Or2w6	UTSW	13	21,843,244 (GRCm39)	missense	possibly damaging	0.72
R8273:Or2w6	UTSW	13	21,843,377 (GRCm39)	missense	probably damaging	1.00
R8913:Or2w6	UTSW	13	21,843,274 (GRCm39)	missense	probably damaging	1.00
R9010:Or2w6	UTSW	13	21,842,681 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGGACACATTCTACCCC -3'
(R):5'- TCTGTAGTCCTCACCAACACTAG -3'

Sequencing Primer
(F):5'- CTCCCAGGGCTAAGACAAAGTACAG -3'
(R):5'- CTCCTCCTAGGTAGCATGTGG -3'

Posted On

2020-09-02