Mutagenetix > Incidental Mutation

Incidental Mutation 'R2106:Or5w1b'

230936

Institutional Source

Beutler Lab

Gene Symbol

Or5w1b

Ensembl Gene

ENSMUSG00000075155

Gene Name

olfactory receptor family 5 subfamily W member 1B

Synonyms

GA_x6K02T2Q125-49151278-49150337, Olfr1133, MOR176-2

MMRRC Submission

040110-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R2106 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87475524-87476465 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87475895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 191 (S191P)

Ref Sequence

ENSEMBL: ENSMUSP00000149460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099855] [ENSMUST00000217368]

AlphaFold

Q7TR44

Predicted Effect

probably damaging
Transcript: ENSMUST00000099855
AA Change: S191P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097441
Gene: ENSMUSG00000075155
AA Change: S191P

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
Pfam:7tm_4	32	308	7e-51	PFAM
Pfam:7tm_1	42	291	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118805

Predicted Effect

probably damaging
Transcript: ENSMUST00000217368
AA Change: S191P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	T	C	2: 26,992,837 (GRCm39)	F650S	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
Ankrd61	A	T	5: 143,828,564 (GRCm39)	L95Q	probably damaging	Het
Atp11a	A	G	8: 12,885,228 (GRCm39)	T22A	probably benign	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Ccdc40	G	T	11: 119,155,123 (GRCm39)	R1121L	probably damaging	Het
Cdhr4	A	C	9: 107,874,693 (GRCm39)	S588R	possibly damaging	Het
Cfap69	T	C	5: 5,645,979 (GRCm39)	N517D	probably benign	Het
Chrm2	T	C	6: 36,500,382 (GRCm39)	Y80H	probably damaging	Het
Cimip2a	A	G	2: 25,110,663 (GRCm39)	Y157C	probably damaging	Het
Csgalnact2	G	T	6: 118,086,090 (GRCm39)	Y534*	probably null	Het
Defb35	A	G	8: 22,430,809 (GRCm39)	E61G	unknown	Het
Dhx15	A	T	5: 52,327,428 (GRCm39)	D95E	probably benign	Het
Dhx57	A	G	17: 80,582,792 (GRCm39)	V271A	probably damaging	Het
Dlg1	T	C	16: 31,631,574 (GRCm39)	S444P	probably damaging	Het
Edem1	T	A	6: 108,825,686 (GRCm39)	N406K	probably damaging	Het
Eif4g3	A	T	4: 137,810,230 (GRCm39)		probably benign	Het
Epb41	A	G	4: 131,717,152 (GRCm39)	I56T	probably damaging	Het
Epg5	T	A	18: 78,034,578 (GRCm39)	Y1442*	probably null	Het
Fat2	T	C	11: 55,147,390 (GRCm39)	T3951A	probably benign	Het
Fryl	A	G	5: 73,255,674 (GRCm39)	S786P	probably damaging	Het
Fyb2	A	G	4: 104,802,769 (GRCm39)	T224A	probably benign	Het
Ginm1	A	T	10: 7,651,090 (GRCm39)	F105L	probably damaging	Het
Heatr1	T	C	13: 12,426,939 (GRCm39)	V688A	probably benign	Het
Hnmt	T	G	2: 23,909,130 (GRCm39)	Q94H	probably benign	Het
Ice1	A	G	13: 70,753,741 (GRCm39)	Y782H	probably benign	Het
Immt	T	C	6: 71,848,499 (GRCm39)	V418A	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krt84	T	C	15: 101,439,301 (GRCm39)	N248D	probably damaging	Het
Lig1	C	A	7: 13,039,863 (GRCm39)	R692S	probably damaging	Het
Lvrn	G	T	18: 47,011,356 (GRCm39)	A438S	probably damaging	Het
Mast4	C	T	13: 102,887,054 (GRCm39)	V1204I	probably damaging	Het
Med21	G	T	6: 146,550,710 (GRCm39)	D74Y	probably damaging	Het
Nat8	T	C	6: 85,807,506 (GRCm39)	D209G	probably benign	Het
Nipal1	C	A	5: 72,820,902 (GRCm39)	F132L	probably damaging	Het
Npr2	A	T	4: 43,644,329 (GRCm39)	I613F	probably damaging	Het
Nrcam	A	G	12: 44,617,073 (GRCm39)	T706A	probably benign	Het
Or8w1	T	C	2: 87,465,503 (GRCm39)	E196G	probably benign	Het
Pam	A	G	1: 97,759,215 (GRCm39)	V823A	probably damaging	Het
Pdik1l	A	T	4: 134,011,565 (GRCm39)	Y93N	probably damaging	Het
Perm1	T	C	4: 156,303,336 (GRCm39)	W627R	probably damaging	Het
Pofut1	G	A	2: 153,101,713 (GRCm39)		probably null	Het
Prmt5	T	C	14: 54,745,374 (GRCm39)	I598V	probably benign	Het
Rab11fip5	T	C	6: 85,351,369 (GRCm39)	I48V	probably damaging	Het
Rad51d	T	A	11: 82,770,134 (GRCm39)	K261N	probably damaging	Het
Rapgef6	T	G	11: 54,559,512 (GRCm39)	I1050S	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,468,474 (GRCm39)	E4688G	probably damaging	Het
Siva1	G	T	12: 112,613,440 (GRCm39)	R96L	probably damaging	Het
Slc13a4	T	C	6: 35,264,799 (GRCm39)	N140S	probably damaging	Het
Slc26a5	T	A	5: 22,028,542 (GRCm39)	D342V	probably damaging	Het
Slfn9	A	G	11: 82,878,506 (GRCm39)	S208P	possibly damaging	Het
Sspo	C	A	6: 48,443,250 (GRCm39)	T1899N	possibly damaging	Het
Sytl1	T	C	4: 132,984,774 (GRCm39)	D200G	probably benign	Het
Tas2r118	T	C	6: 23,969,569 (GRCm39)	N164S	probably benign	Het
Tbc1d17	A	G	7: 44,497,692 (GRCm39)		probably null	Het
Tex14	T	C	11: 87,377,076 (GRCm39)	M140T	possibly damaging	Het
Tm6sf2	T	C	8: 70,532,396 (GRCm39)	F352S	probably benign	Het
Tmem88	A	G	11: 69,288,685 (GRCm39)	L78P	probably benign	Het
Trafd1	A	G	5: 121,511,274 (GRCm39)	S515P	probably benign	Het
Trpm6	A	T	19: 18,790,714 (GRCm39)	E583V	possibly damaging	Het
Ttc23l	A	G	15: 10,547,342 (GRCm39)	C91R	probably damaging	Het
Ubap1l	T	C	9: 65,281,089 (GRCm39)	S256P	probably benign	Het
Vmn1r26	T	G	6: 57,985,710 (GRCm39)	S160R	possibly damaging	Het
Vmn2r97	A	G	17: 19,168,100 (GRCm39)	S785G	probably damaging	Het
Wdr27	T	G	17: 15,141,116 (GRCm39)	R278S	probably benign	Het
Wdr7	T	C	18: 63,911,109 (GRCm39)	S834P	probably damaging	Het
Zdhhc12	C	T	2: 29,981,814 (GRCm39)	C116Y	probably damaging	Het
Zfp946	T	C	17: 22,672,466 (GRCm39)	F22L	probably benign	Het
Zfp948	G	T	17: 21,807,953 (GRCm39)	E382*	probably null	Het
Zfp956	T	A	6: 47,941,359 (GRCm39)	*573K	probably null	Het
Zim1	T	G	7: 6,681,073 (GRCm39)	T197P	probably benign	Het

Other mutations in Or5w1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02377:Or5w1b	APN	2	87,475,630 (GRCm39)	missense	probably damaging	1.00
IGL03354:Or5w1b	APN	2	87,475,939 (GRCm39)	missense	probably damaging	0.99
PIT4366001:Or5w1b	UTSW	2	87,475,534 (GRCm39)	nonsense	probably null
R1375:Or5w1b	UTSW	2	87,476,081 (GRCm39)	missense	probably damaging	1.00
R1413:Or5w1b	UTSW	2	87,476,182 (GRCm39)	missense	probably benign	0.02
R2011:Or5w1b	UTSW	2	87,476,233 (GRCm39)	missense	probably damaging	0.97
R2016:Or5w1b	UTSW	2	87,476,396 (GRCm39)	missense	probably benign	0.18
R2026:Or5w1b	UTSW	2	87,475,753 (GRCm39)	missense	probably damaging	1.00
R4393:Or5w1b	UTSW	2	87,476,256 (GRCm39)	nonsense	probably null
R5292:Or5w1b	UTSW	2	87,476,339 (GRCm39)	missense	probably damaging	1.00
R5562:Or5w1b	UTSW	2	87,476,063 (GRCm39)	missense	probably benign	0.00
R5631:Or5w1b	UTSW	2	87,475,952 (GRCm39)	missense	probably benign	0.16
R5632:Or5w1b	UTSW	2	87,475,573 (GRCm39)	missense	probably damaging	1.00
R6801:Or5w1b	UTSW	2	87,475,667 (GRCm39)	missense	probably benign	0.23
R7014:Or5w1b	UTSW	2	87,476,320 (GRCm39)	missense	probably damaging	1.00
R7963:Or5w1b	UTSW	2	87,475,769 (GRCm39)	missense	probably benign	0.16
R8769:Or5w1b	UTSW	2	87,475,960 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCTGGGTCGGAAATACATG -3'
(R):5'- TCATGCTAGCTGTCATGGC -3'

Sequencing Primer
(F):5'- TCGGAAATACATGAAAAGCAGAGTTC -3'
(R):5'- AGCTGTCATGGCCTATGATC -3'

Posted On

2014-09-18