Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02219:Or5w20'

285032

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or5w20

Ensembl Gene

ENSMUSG00000048197

Gene Name

olfactory receptor family 5 subfamily W member 20

Synonyms

Olfr1153, MOR177-7, GA_x6K02T2Q125-49395950-49396882

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.231) question?

Stock #

IGL02219

Quality Score

Status

Chromosome

Chromosomal Location

87726521-87727477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87727317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 258 (Y258C)

Ref Sequence

ENSEMBL: ENSMUSP00000150945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052300] [ENSMUST00000215017] [ENSMUST00000215862] [ENSMUST00000217436]

AlphaFold

A2AVC0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052300
AA Change: Y266C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057839
Gene: ENSMUSG00000048197
AA Change: Y266C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	38	315	4.9e-45	PFAM
Pfam:7tm_1	48	297	5.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215017

Predicted Effect

probably benign
Transcript: ENSMUST00000215862

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217436
AA Change: Y258C

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730013G03Rik	A	T	1: 192,515,691 (GRCm39)		noncoding transcript	Het
Abcb10	G	A	8: 124,681,166 (GRCm39)	H677Y	probably benign	Het
Ager	T	C	17: 34,819,094 (GRCm39)	V314A	probably damaging	Het
Asxl3	A	G	18: 22,586,683 (GRCm39)	M158V	possibly damaging	Het
Atp1a2	G	A	1: 172,107,298 (GRCm39)	Q741*	probably null	Het
Atp1a2	A	T	1: 172,107,285 (GRCm39)	M745K	probably damaging	Het
Begain	A	G	12: 108,999,656 (GRCm39)	S577P	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Camk2b	A	G	11: 5,926,872 (GRCm39)	L497P	possibly damaging	Het
Cand2	T	A	6: 115,780,773 (GRCm39)	I1219N	probably damaging	Het
Cckbr	T	A	7: 105,083,255 (GRCm39)	Y153N	probably damaging	Het
Cep250	T	G	2: 155,833,514 (GRCm39)	V1812G	probably benign	Het
Cyp2c39	A	T	19: 39,556,643 (GRCm39)		probably benign	Het
Ddx43	T	A	9: 78,324,001 (GRCm39)	M444K	probably damaging	Het
Dnm1	A	T	2: 32,213,462 (GRCm39)	M506K	probably benign	Het
Duox2	A	T	2: 122,125,145 (GRCm39)	H352Q	probably benign	Het
Fcgbpl1	T	C	7: 27,854,060 (GRCm39)	Y1675H	probably damaging	Het
Fsip2	A	G	2: 82,808,174 (GRCm39)	T1498A	probably benign	Het
Gcn1	A	T	5: 115,751,826 (GRCm39)	Q2067L	possibly damaging	Het
Get4	G	T	5: 139,249,384 (GRCm39)		probably null	Het
Gm6370	G	A	5: 146,430,453 (GRCm39)	A213T	possibly damaging	Het
Gpr135	T	C	12: 72,117,047 (GRCm39)	Y240C	probably damaging	Het
Gstm5	T	A	3: 107,805,347 (GRCm39)	L145Q	probably damaging	Het
Hoxb3	T	C	11: 96,236,986 (GRCm39)	Y355H	probably damaging	Het
Hsf2	A	C	10: 57,372,370 (GRCm39)	K108Q	probably damaging	Het
Kdm3a	T	C	6: 71,577,718 (GRCm39)	N694S	probably benign	Het
Lrpap1	G	A	5: 35,253,411 (GRCm39)		probably benign	Het
Mapk8ip3	T	C	17: 25,118,532 (GRCm39)	T1162A	probably damaging	Het
Mettl14	T	C	3: 123,168,540 (GRCm39)		probably benign	Het
Mrgprx1	T	C	7: 47,671,477 (GRCm39)	Y90C	probably benign	Het
Mybpc3	A	T	2: 90,951,368 (GRCm39)		probably null	Het
Nup88	C	T	11: 70,860,518 (GRCm39)	G87D	probably benign	Het
Or7d9	A	T	9: 20,197,756 (GRCm39)	T254S	probably benign	Het
Or9i1	C	T	19: 13,839,187 (GRCm39)	T10M	probably damaging	Het
Pan2	G	A	10: 128,156,221 (GRCm39)	E1133K	probably benign	Het
Pcsk2	T	C	2: 143,635,045 (GRCm39)	S307P	probably damaging	Het
Pdgfa	C	T	5: 138,971,950 (GRCm39)	V150I	probably damaging	Het
Phf12	T	C	11: 77,875,022 (GRCm39)	C83R	probably damaging	Het
Pla2g2c	A	G	4: 138,463,319 (GRCm39)	Y71C	probably damaging	Het
Pou2f2	T	A	7: 24,797,107 (GRCm39)	Q218L	probably damaging	Het
Prl8a9	C	T	13: 27,743,353 (GRCm39)	V151I	possibly damaging	Het
Prop1	T	C	11: 50,842,911 (GRCm39)	D92G	probably damaging	Het
Rnf13	A	G	3: 57,703,644 (GRCm39)	Y116C	probably damaging	Het
Ro60	A	G	1: 143,637,013 (GRCm39)	C400R	possibly damaging	Het
Scrib	T	A	15: 75,936,885 (GRCm39)	K383*	probably null	Het
Slc44a5	T	C	3: 153,944,796 (GRCm39)	Y138H	possibly damaging	Het
Stra6	G	A	9: 58,047,752 (GRCm39)	V108M	probably benign	Het
Tspan10	G	T	11: 120,337,198 (GRCm39)	A323S	probably benign	Het
Ttc22	T	A	4: 106,495,687 (GRCm39)	V347D	probably damaging	Het
Ugt1a10	C	T	1: 87,983,780 (GRCm39)	L193F	probably benign	Het
Vps13d	G	T	4: 144,894,716 (GRCm39)	H457N	probably benign	Het
Vrtn	A	G	12: 84,695,607 (GRCm39)	Y119C	probably damaging	Het
Xpnpep3	T	C	15: 81,311,657 (GRCm39)	F121S	probably damaging	Het

Other mutations in Or5w20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01075:Or5w20	APN	2	87,727,265 (GRCm39)	missense	probably benign	0.00
IGL02024:Or5w20	APN	2	87,727,243 (GRCm39)	missense	possibly damaging	0.81
IGL02693:Or5w20	APN	2	87,726,877 (GRCm39)	missense	probably damaging	1.00
R0121:Or5w20	UTSW	2	87,727,434 (GRCm39)	missense	possibly damaging	0.93
R0315:Or5w20	UTSW	2	87,727,410 (GRCm39)	missense	probably damaging	1.00
R0446:Or5w20	UTSW	2	87,727,199 (GRCm39)	missense	possibly damaging	0.51
R0472:Or5w20	UTSW	2	87,726,837 (GRCm39)	missense	possibly damaging	0.47
R0720:Or5w20	UTSW	2	87,727,013 (GRCm39)	missense	probably benign	0.31
R1579:Or5w20	UTSW	2	87,727,286 (GRCm39)	missense	probably benign	0.05
R1968:Or5w20	UTSW	2	87,727,383 (GRCm39)	missense	probably damaging	1.00
R3909:Or5w20	UTSW	2	87,727,293 (GRCm39)	splice site	probably null
R4936:Or5w20	UTSW	2	87,727,157 (GRCm39)	missense	probably benign	0.06
R5520:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R5585:Or5w20	UTSW	2	87,727,019 (GRCm39)	missense	possibly damaging	0.54
R6176:Or5w20	UTSW	2	87,727,280 (GRCm39)	missense	probably benign	0.18
R6272:Or5w20	UTSW	2	87,727,001 (GRCm39)	missense	probably benign	0.00
R6451:Or5w20	UTSW	2	87,726,935 (GRCm39)	missense	probably damaging	1.00
R7312:Or5w20	UTSW	2	87,726,755 (GRCm39)	missense	possibly damaging	0.54
R7350:Or5w20	UTSW	2	87,726,753 (GRCm39)	unclassified	probably benign
R8060:Or5w20	UTSW	2	87,727,317 (GRCm39)	missense	probably damaging	1.00
R8752:Or5w20	UTSW	2	87,726,591 (GRCm39)	missense	possibly damaging	0.66
R9474:Or5w20	UTSW	2	87,726,693 (GRCm39)	missense	probably benign	0.00
R9710:Or5w20	UTSW	2	87,726,902 (GRCm39)	missense	probably damaging	1.00
Z1088:Or5w20	UTSW	2	87,726,977 (GRCm39)	missense	probably benign	0.05

Posted On

2015-04-16