Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:Or5w15'

661136

Institutional Source

Beutler Lab

Gene Symbol

Or5w15

Ensembl Gene

ENSMUSG00000075149

Gene Name

olfactory receptor family 5 subfamily W member 15

Synonyms

MOR177-8, Olfr1138, GA_x6K02T2Q125-49242149-49241214

MMRRC Submission

068526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87567731-87568666 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87567990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 226 (L226Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148941 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099848] [ENSMUST00000214573]

AlphaFold

Q8VFQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000099848
AA Change: L226Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097435
Gene: ENSMUSG00000075149
AA Change: L226Q

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	2.3e-45	PFAM
Pfam:7tm_1	41	290	1.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214573
AA Change: L226Q

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,861,166 (GRCm39)	E145K	probably damaging	Het
Ambp	A	T	4: 63,068,656 (GRCm39)	Y120*	probably null	Het
Ankrd36	C	T	11: 5,579,312 (GRCm39)	A192V	probably benign	Het
Apol7e	A	T	15: 77,601,803 (GRCm39)	M134L	probably benign	Het
Atg9b	A	T	5: 24,591,107 (GRCm39)	N774K	probably benign	Het
Catsperb	T	A	12: 101,560,596 (GRCm39)	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 129,646,948 (GRCm39)	D648V	probably damaging	Het
Cfap54	G	T	10: 92,790,934 (GRCm39)	P1855T	unknown	Het
Clcnkb	T	A	4: 141,139,541 (GRCm39)	T154S	probably damaging	Het
Cux1	C	T	5: 136,279,454 (GRCm39)	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,252,667 (GRCm39)	D413G	possibly damaging	Het
Elp1	A	G	4: 56,771,453 (GRCm39)	L948P	probably damaging	Het
Flnc	T	C	6: 29,443,501 (GRCm39)		probably null	Het
Grm5	T	C	7: 87,765,498 (GRCm39)		probably null	Het
Hectd3	T	G	4: 116,853,778 (GRCm39)	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,082,976 (GRCm39)	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Larp4	C	A	15: 99,908,339 (GRCm39)	Q607K	probably benign	Het
Marchf8	A	G	6: 116,378,815 (GRCm39)	R250G	probably benign	Het
Med13	A	C	11: 86,161,923 (GRCm39)	N2135K	probably damaging	Het
Msh5	T	A	17: 35,264,909 (GRCm39)	R89*	probably null	Het
Musk	T	G	4: 58,286,051 (GRCm39)		probably benign	Het
Myo18b	T	C	5: 113,022,609 (GRCm39)	Q261R	unknown	Het
Npr1	A	T	3: 90,363,464 (GRCm39)		probably benign	Het
Nynrin	T	A	14: 56,107,899 (GRCm39)	V1002E	possibly damaging	Het
Or2l5	T	C	16: 19,333,804 (GRCm39)	Y194C	possibly damaging	Het
Or4c103	A	T	2: 88,513,449 (GRCm39)	F209Y	probably benign	Het
Or4f14c	T	A	2: 111,941,333 (GRCm39)	K88M	probably damaging	Het
Pcare	G	T	17: 72,058,372 (GRCm39)	A435E	probably benign	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Potefam1	T	C	2: 111,059,877 (GRCm39)		probably benign	Het
Potefam3e	T	A	8: 19,784,775 (GRCm39)	L203*	probably null	Het
Prkd1	T	A	12: 50,435,191 (GRCm39)	N512I	probably benign	Het
Pwwp2b	C	T	7: 138,836,326 (GRCm39)	P589L	probably damaging	Het
Rasgrp4	G	A	7: 28,842,452 (GRCm39)	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,467,973 (GRCm39)	V480G	probably damaging	Het
Rptn	A	G	3: 93,305,501 (GRCm39)	S945G	probably benign	Het
Slc22a2	C	T	17: 12,824,863 (GRCm39)	Q242*	probably null	Het
Slfn3	T	A	11: 83,103,825 (GRCm39)	V232E	probably benign	Het
Stab1	T	A	14: 30,879,365 (GRCm39)	K705M	probably damaging	Het
Syn2	C	A	6: 115,255,128 (GRCm39)	S480*	probably null	Het
Thsd4	A	T	9: 60,301,728 (GRCm39)	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,061,597 (GRCm39)	T250A	probably benign	Het
Tnc	A	T	4: 63,935,683 (GRCm39)	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,683,385 (GRCm39)	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,693,722 (GRCm39)		probably benign	Het
Xcl1	T	C	1: 164,759,419 (GRCm39)	M94V	probably benign	Het
Zfp369	T	C	13: 65,444,095 (GRCm39)	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,764,595 (GRCm39)	I279S	possibly damaging	Het
Zfp971	A	C	2: 177,675,730 (GRCm39)	Q443P	probably damaging	Het

Other mutations in Or5w15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02304:Or5w15	APN	2	87,568,330 (GRCm39)	missense	probably benign	0.01
IGL02490:Or5w15	APN	2	87,568,299 (GRCm39)	missense	probably damaging	1.00
IGL02730:Or5w15	APN	2	87,567,985 (GRCm39)	missense	probably damaging	1.00
IGL03106:Or5w15	APN	2	87,568,462 (GRCm39)	missense	probably benign	0.02
IGL03113:Or5w15	APN	2	87,568,506 (GRCm39)	missense	probably benign	0.01
R0450:Or5w15	UTSW	2	87,567,825 (GRCm39)	missense	probably damaging	0.98
R0469:Or5w15	UTSW	2	87,567,825 (GRCm39)	missense	probably damaging	0.98
R0510:Or5w15	UTSW	2	87,567,825 (GRCm39)	missense	probably damaging	0.98
R3696:Or5w15	UTSW	2	87,568,360 (GRCm39)	missense	probably benign
R3698:Or5w15	UTSW	2	87,568,360 (GRCm39)	missense	probably benign
R5149:Or5w15	UTSW	2	87,567,749 (GRCm39)	missense	probably benign
R5156:Or5w15	UTSW	2	87,568,119 (GRCm39)	missense	possibly damaging	0.95
R6245:Or5w15	UTSW	2	87,568,240 (GRCm39)	missense	possibly damaging	0.54
R6701:Or5w15	UTSW	2	87,567,753 (GRCm39)	missense	probably benign
R7170:Or5w15	UTSW	2	87,568,056 (GRCm39)	missense	probably damaging	0.99
R7185:Or5w15	UTSW	2	87,568,489 (GRCm39)	missense	probably damaging	1.00
R7260:Or5w15	UTSW	2	87,568,852 (GRCm39)	splice site	probably null
R8065:Or5w15	UTSW	2	87,568,147 (GRCm39)	missense	probably damaging	1.00
R8067:Or5w15	UTSW	2	87,568,147 (GRCm39)	missense	probably damaging	1.00
R8953:Or5w15	UTSW	2	87,568,371 (GRCm39)	missense	probably benign	0.01
R9254:Or5w15	UTSW	2	87,568,372 (GRCm39)	missense	probably benign
R9356:Or5w15	UTSW	2	87,568,089 (GRCm39)	missense	probably benign	0.01
R9481:Or5w15	UTSW	2	87,568,576 (GRCm39)	missense	probably benign	0.44
R9544:Or5w15	UTSW	2	87,568,644 (GRCm39)	missense	probably benign
R9588:Or5w15	UTSW	2	87,568,644 (GRCm39)	missense	probably benign
R9646:Or5w15	UTSW	2	87,568,512 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATCAGAGGGTTCAGCATGGG -3'
(R):5'- AAGTGTGCTTCCAATTATTGACTGG -3'

Sequencing Primer
(F):5'- TTCAGCATGGGAATCACAAGTG -3'
(R):5'- ACATTCCACTTATGTTTCTGTGGG -3'

Posted On

2021-03-08