Mutagenetix > Incidental Mutation

Incidental Mutation 'R6232:Or2w3'

504697

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

044360-MU

Accession Numbers

Essential gene?

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

Stock #

R6232 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58556387-58557370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58556757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 124 (V124E)

Ref Sequence

ENSEMBL: ENSMUSP00000149062 (fasta)

Gene Model

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

AlphaFold

Q5NCC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072030
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071913
Gene: ENSMUSG00000063549
AA Change: V124E

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

possibly damaging
Transcript: ENSMUST00000213232
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213793
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214392
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214400
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216442
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217399
AA Change: V124E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

Meta Mutation Damage Score

0.2051

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

94% (64/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,268,933 (GRCm39)	V198A	possibly damaging	Het
Adam34l	T	G	8: 44,078,949 (GRCm39)	N425T	probably benign	Het
Adgra2	A	T	8: 27,609,193 (GRCm39)	M805L	probably benign	Het
Arhgap39	T	C	15: 76,620,712 (GRCm39)	S630G	probably damaging	Het
Bcl3	T	A	7: 19,546,409 (GRCm39)	N142I	probably damaging	Het
Cfap210	C	T	2: 69,602,398 (GRCm39)	E338K	possibly damaging	Het
Chuk	A	T	19: 44,085,431 (GRCm39)	D238E	probably benign	Het
Cnga4	T	G	7: 105,056,906 (GRCm39)	Y336*	probably null	Het
Cyp2j8	A	T	4: 96,395,427 (GRCm39)	L66Q	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dst	T	A	1: 34,227,253 (GRCm39)	D1290E	probably damaging	Het
Dysf	T	C	6: 84,075,235 (GRCm39)	I583T	probably benign	Het
Eif1ad13	A	T	12: 87,762,351 (GRCm39)	R24*	probably null	Het
Fbxl2	T	A	9: 113,815,516 (GRCm39)	D249V	probably damaging	Het
Fbxo30	A	T	10: 11,165,602 (GRCm39)	Y108F	possibly damaging	Het
Fibin	G	T	2: 110,193,041 (GRCm39)	H34N	probably damaging	Het
Gabrr1	A	G	4: 33,161,632 (GRCm39)	I319V	probably benign	Het
Gfm1	G	T	3: 67,375,215 (GRCm39)	L559F	possibly damaging	Het
Gm5134	T	A	10: 75,821,859 (GRCm39)	L231Q	possibly damaging	Het
Grm5	A	G	7: 87,251,638 (GRCm39)		probably benign	Het
Hbs1l	T	A	10: 21,183,657 (GRCm39)		probably null	Het
Hsf5	C	G	11: 87,508,120 (GRCm39)	T8S	probably benign	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Inpp4b	A	G	8: 82,678,813 (GRCm39)	Q281R	probably damaging	Het
Krt40	G	A	11: 99,433,920 (GRCm39)	A22V	possibly damaging	Het
Ldlrap1	C	T	4: 134,486,345 (GRCm39)	R38Q	possibly damaging	Het
Lepr	A	G	4: 101,671,588 (GRCm39)		probably null	Het
Map3k12	A	G	15: 102,412,081 (GRCm39)	S328P	probably damaging	Het
Mrpl2	T	C	17: 46,958,356 (GRCm39)	V46A	probably benign	Het
Muc16	A	T	9: 18,568,294 (GRCm39)	N1408K	unknown	Het
Myh7	T	A	14: 55,226,753 (GRCm39)	Q366L	probably benign	Het
Nbeal2	A	G	9: 110,467,802 (GRCm39)	V462A	probably damaging	Het
Nradd	G	T	9: 110,450,655 (GRCm39)	T174N	probably damaging	Het
Nup155	T	C	15: 8,138,963 (GRCm39)	S12P	probably benign	Het
Obscn	C	A	11: 58,943,337 (GRCm39)	E4832*	probably null	Het
Opn3	G	A	1: 175,490,669 (GRCm39)	R331W	probably damaging	Het
Or2ag15	A	T	7: 106,340,761 (GRCm39)	C127S	probably damaging	Het
Or4a66	G	T	2: 88,531,161 (GRCm39)	H171N	probably benign	Het
Or52ae9	T	A	7: 103,389,661 (GRCm39)	H262L	probably damaging	Het
Or5b120	G	A	19: 13,480,427 (GRCm39)	C240Y	probably damaging	Het
Or6b2	T	C	1: 92,408,305 (GRCm39)	I13V	probably benign	Het
Phip	A	G	9: 82,785,234 (GRCm39)	V827A	probably benign	Het
Phldb1	G	A	9: 44,607,414 (GRCm39)	R1264W	probably damaging	Het
Pibf1	T	G	14: 99,424,014 (GRCm39)	I529S	probably benign	Het
Pkp1	T	A	1: 135,814,599 (GRCm39)	I241F	probably benign	Het
Pla2g4f	G	T	2: 120,132,702 (GRCm39)	D711E	possibly damaging	Het
Pold1	A	G	7: 44,190,266 (GRCm39)		probably null	Het
Pold2	T	C	11: 5,823,691 (GRCm39)	S287G	probably benign	Het
Prg4	T	C	1: 150,331,567 (GRCm39)		probably benign	Het
Prl8a1	T	C	13: 27,759,557 (GRCm39)	E160G	possibly damaging	Het
Rfc4	C	T	16: 22,932,840 (GRCm39)		probably benign	Het
Robo3	T	G	9: 37,332,225 (GRCm39)	Y891S	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph14	G	A	10: 74,797,520 (GRCm39)	R156W	probably benign	Het
Sec61a1	T	C	6: 88,482,150 (GRCm39)	Y457C	probably benign	Het
Sec63	T	A	10: 42,704,861 (GRCm39)		probably null	Het
Spen	T	C	4: 141,244,333 (GRCm39)	E234G	unknown	Het
Sphkap	T	A	1: 83,258,200 (GRCm39)	E181V	probably damaging	Het
Stau2	C	T	1: 16,445,035 (GRCm39)	A298T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 56,990,796 (GRCm39)	I661V	probably benign	Het
Thoc6	A	C	17: 23,889,295 (GRCm39)		probably null	Het
Trpv1	T	A	11: 73,141,636 (GRCm39)	M553K	possibly damaging	Het
Ttn	T	C	2: 76,641,579 (GRCm39)	I11760V	probably benign	Het
Vmn1r61	G	A	7: 5,613,850 (GRCm39)	H155Y	probably damaging	Het
Vmn2r41	A	G	7: 8,153,214 (GRCm39)		probably null	Het
Vmn2r74	A	G	7: 85,607,498 (GRCm39)	I75T	possibly damaging	Het
Wwp2	C	A	8: 108,232,977 (GRCm39)	T205K	probably benign	Het
Zfp1003	A	T	2: 177,546,195 (GRCm39)	T40S	probably benign	Het
Zfp747	C	T	7: 126,973,306 (GRCm39)	G288D	probably damaging	Het
Zfp871	CCACAC	CC	17: 32,994,494 (GRCm39)		probably null	Het
Zfp953	G	A	13: 67,491,161 (GRCm39)	L264F	possibly 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
R1601:Or2w3	UTSW	11	58,556,903 (GRCm39)	missense	probably damaging	0.97
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
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'- CTTGACCTCAGCTTCACCAG -3'
(R):5'- CCTATTGCCAGGACGAAGAC -3'

Sequencing Primer
(F):5'- GACCTCAGCTTCACCAGTAGCTC -3'
(R):5'- TCCTGATGAGAGCTGGCATCTC -3'

Posted On

2018-02-28