Mutagenetix > Incidental Mutation

Incidental Mutation 'R1601:Or2w3'

176166

Institutional Source

Beutler Lab

Gene Symbol

Or2w3

Ensembl Gene

ENSMUSG00000063549

Gene Name

olfactory receptor family 2 subfamily W member 3

Synonyms

Olfr216, GA_x6K02SYUPNB-557-3, Olfr322-ps1, Olfr179, MOR256-64, Olfr322, GA_x6K02SYUNE5-2-727, OTTMUSG00000005755, GA_x6K02T2NKPP-754816-754257

MMRRC Submission

039638-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

R1601 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58556387-58557370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58556903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 173 (R173W)

Ref Sequence

ENSEMBL: ENSMUSP00000149062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072030] [ENSMUST00000213232] [ENSMUST00000213793] [ENSMUST00000214392] [ENSMUST00000214400] [ENSMUST00000216442] [ENSMUST00000217399]

AlphaFold

Q5NCC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000072030
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071913
Gene: ENSMUSG00000063549
AA Change: R173W

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srv	25	305	2.7e-6	PFAM
Pfam:7tm_4	31	308	3.5e-48	PFAM
Pfam:7tm_1	41	290	3.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157597

Predicted Effect

probably damaging
Transcript: ENSMUST00000213232
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213793
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214392
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214400
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216442
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217399
AA Change: R173W

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Adgra2	T	C	8: 27,600,046 (GRCm39)		probably null	Het
Adgrb2	T	C	4: 129,886,630 (GRCm39)	S257P	probably benign	Het
Adgre1	A	G	17: 57,748,353 (GRCm39)	K518E	probably benign	Het
Anxa7	A	T	14: 20,514,683 (GRCm39)	Y64*	probably null	Het
Arhgef7	A	G	8: 11,832,638 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,892,566 (GRCm39)	Y243*	probably null	Het
Cdk14	C	T	5: 5,185,378 (GRCm39)	V176M	probably damaging	Het
Cnbd2	A	G	2: 156,175,551 (GRCm39)	E54G	probably damaging	Het
Crx	T	C	7: 15,601,736 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,611 (GRCm39)	F511L	possibly damaging	Het
Ddx11	A	G	17: 66,457,380 (GRCm39)	M810V	probably damaging	Het
Dock10	T	C	1: 80,527,519 (GRCm39)	T1077A	probably benign	Het
Dop1a	G	A	9: 86,418,303 (GRCm39)	D2011N	probably damaging	Het
Ehhadh	T	A	16: 21,585,158 (GRCm39)	H241L	probably benign	Het
Elp1	T	A	4: 56,774,756 (GRCm39)	K740*	probably null	Het
Enah	A	T	1: 181,747,185 (GRCm39)	L523*	probably null	Het
Fabp3	T	C	4: 130,202,641 (GRCm39)	L24P	probably benign	Het
Fat2	A	G	11: 55,172,836 (GRCm39)	S2626P	probably benign	Het
Fbxo4	A	G	15: 3,998,447 (GRCm39)	M337T	possibly damaging	Het
Gas6	G	T	8: 13,515,786 (GRCm39)	T662N	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hrh4	G	A	18: 13,148,955 (GRCm39)	V106I	possibly damaging	Het
Ido2	G	T	8: 25,066,205 (GRCm39)	H20Q	possibly damaging	Het
Itga10	G	T	3: 96,560,974 (GRCm39)	R613L	possibly damaging	Het
Itsn2	T	C	12: 4,708,452 (GRCm39)	S836P	probably benign	Het
Kcng3	A	T	17: 83,895,768 (GRCm39)	C233S	probably damaging	Het
Kdm3b	A	G	18: 34,941,784 (GRCm39)	Q625R	probably damaging	Het
Kidins220	A	G	12: 25,055,087 (GRCm39)	S553G	probably benign	Het
Krt82	A	T	15: 101,453,588 (GRCm39)	I266N	probably damaging	Het
Lama5	A	T	2: 179,839,538 (GRCm39)	L736Q	probably damaging	Het
Lnx2	A	G	5: 146,970,329 (GRCm39)	C138R	probably damaging	Het
Mcm5	T	C	8: 75,845,982 (GRCm39)	C397R	possibly damaging	Het
Me1	A	C	9: 86,560,065 (GRCm39)	Y52D	probably damaging	Het
Muc4	C	A	16: 32,575,875 (GRCm39)		probably benign	Het
Myo18b	G	T	5: 113,019,364 (GRCm39)	Q638K	possibly damaging	Het
Ncapd2	A	G	6: 125,162,735 (GRCm39)	L170P	probably damaging	Het
Neb	A	T	2: 52,177,264 (GRCm39)	L1359*	probably null	Het
Nomo1	C	A	7: 45,696,379 (GRCm39)	S299Y	probably damaging	Het
Onecut1	A	T	9: 74,769,973 (GRCm39)	H132L	probably benign	Het
Or2b2	C	A	13: 21,887,396 (GRCm39)	T75K	probably damaging	Het
Or4e2	A	C	14: 52,687,899 (GRCm39)	T10P	probably benign	Het
Or7a41	A	T	10: 78,871,338 (GRCm39)	Y236F	possibly damaging	Het
Paqr3	A	G	5: 97,259,248 (GRCm39)	Y19H	probably benign	Het
Prdx5	T	C	19: 6,884,926 (GRCm39)	H140R	possibly damaging	Het
Prox1	T	C	1: 189,893,203 (GRCm39)	D414G	probably damaging	Het
Ptprh	T	G	7: 4,555,637 (GRCm39)	E774A	probably damaging	Het
Rnpepl1	A	T	1: 92,844,944 (GRCm39)	D412V	possibly damaging	Het
Sars2	C	T	7: 28,448,396 (GRCm39)	T259M	probably benign	Het
Sbf2	T	C	7: 109,939,283 (GRCm39)		probably null	Het
Sbno2	C	T	10: 79,896,326 (GRCm39)	R898H	probably damaging	Het
Smox	C	A	2: 131,362,094 (GRCm39)	T172N	probably damaging	Het
Taf7l2	T	C	10: 115,949,521 (GRCm39)	S2G	probably damaging	Het
Tdrd9	C	T	12: 111,989,687 (GRCm39)	R341*	probably null	Het
Thrap3	C	G	4: 126,073,894 (GRCm39)	G284A	probably damaging	Het
Tmtc4	A	G	14: 123,182,238 (GRCm39)	V271A	probably benign	Het
Trank1	A	G	9: 111,202,545 (GRCm39)	T1637A	probably damaging	Het
Tspan5	T	A	3: 138,602,596 (GRCm39)	I166N	probably damaging	Het
Vps13b	T	C	15: 35,642,582 (GRCm39)	V1398A	probably benign	Het
Xbp1	C	T	11: 5,471,975 (GRCm39)	R34W	probably damaging	Het

Other mutations in Or2w3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Or2w3	APN	11	58,556,691 (GRCm39)	missense	probably benign	0.05
IGL02514:Or2w3	APN	11	58,556,469 (GRCm39)	missense	probably damaging	1.00
IGL02823:Or2w3	APN	11	58,556,793 (GRCm39)	missense	possibly damaging	0.95
R0449:Or2w3	UTSW	11	58,556,789 (GRCm39)	missense	probably benign	0.02
R0600:Or2w3	UTSW	11	58,556,986 (GRCm39)	missense	probably damaging	1.00
R0865:Or2w3	UTSW	11	58,556,478 (GRCm39)	missense	possibly damaging	0.84
R2062:Or2w3	UTSW	11	58,556,808 (GRCm39)	missense	probably damaging	1.00
R5642:Or2w3	UTSW	11	58,557,225 (GRCm39)	missense	possibly damaging	0.55
R6232:Or2w3	UTSW	11	58,556,757 (GRCm39)	missense	possibly damaging	0.95
R7383:Or2w3	UTSW	11	58,557,011 (GRCm39)	missense	possibly damaging	0.94
R9022:Or2w3	UTSW	11	58,556,550 (GRCm39)	missense	probably damaging	1.00
Z1186:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1187:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1188:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1189:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1190:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1191:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign
Z1192:Or2w3	UTSW	11	58,557,342 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACCTCAGCTTCACCAGTAGCTC -3'
(R):5'- ACGTGTTGAATGCCTTCTGCCG -3'

Sequencing Primer
(F):5'- GCTACTCTATAACCTCAGCGGG -3'
(R):5'- AACACGATGCCTATTGCCAG -3'

Posted On

2014-04-24