Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Or5w11'

229201

Institutional Source

Beutler Lab

Gene Symbol

Or5w11

Ensembl Gene

ENSMUSG00000068819

Gene Name

olfactory receptor family 5 subfamily W member 11

Synonyms

GA_x6K02T2Q125-49133664-49134593, MOR177-4, Olfr1131

MMRRC Submission

040082-MU

Accession Numbers

Essential gene?

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

Stock #

R2077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87458809-87459738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87459173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 122 (Y122C)

Ref Sequence

ENSEMBL: ENSMUSP00000150754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090712] [ENSMUST00000213302] [ENSMUST00000216082] [ENSMUST00000216756]

AlphaFold

Q7TR45

Predicted Effect

probably damaging
Transcript: ENSMUST00000090712
AA Change: Y122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: Y122C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-47	PFAM
Pfam:7tm_1	40	289	1.7e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213302
AA Change: Y122C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000216082

Predicted Effect

probably damaging
Transcript: ENSMUST00000216756
AA Change: Y6C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6436

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (48/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	A	4: 144,183,604 (GRCm39)		probably benign	Het
Abhd16b	A	C	2: 181,135,209 (GRCm39)	D37A	probably benign	Het
Acp7	T	C	7: 28,328,907 (GRCm39)	E91G	probably damaging	Het
Alms1	T	A	6: 85,599,291 (GRCm39)	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,436,990 (GRCm39)	D620V	probably damaging	Het
Caps2	C	T	10: 112,035,632 (GRCm39)	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,186,794 (GRCm39)	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,265,630 (GRCm39)	L1434P	probably damaging	Het
Cdkl3	A	T	11: 51,917,666 (GRCm39)	E321V	probably damaging	Het
Clec2d	G	T	6: 129,160,153 (GRCm39)	V56L	possibly damaging	Het
Cops3	A	T	11: 59,715,136 (GRCm39)	S301T	possibly damaging	Het
Crygd	T	C	1: 65,102,405 (GRCm39)	D19G	probably damaging	Het
Dnah2	T	C	11: 69,387,432 (GRCm39)	I931M	possibly damaging	Het
Dst	A	T	1: 34,250,251 (GRCm39)	R4068S	probably damaging	Het
Fas	C	T	19: 34,297,953 (GRCm39)		probably benign	Het
G6pd2	T	A	5: 61,967,594 (GRCm39)	D456E	probably damaging	Het
Galnt18	G	A	7: 111,153,809 (GRCm39)	R272W	probably damaging	Het
Grb2	C	A	11: 115,536,651 (GRCm39)	G200W	probably damaging	Het
Herc4	A	G	10: 63,099,832 (GRCm39)	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,875,727 (GRCm39)	D92G	probably damaging	Het
Itih3	A	G	14: 30,631,792 (GRCm39)	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,600,560 (GRCm39)	N247D	probably benign	Het
Kcnd3	T	C	3: 105,574,315 (GRCm39)	V500A	probably benign	Het
Lrp2	C	T	2: 69,338,187 (GRCm39)	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,999,444 (GRCm39)	T22A	probably damaging	Het
Mdga2	A	G	12: 66,702,136 (GRCm39)	V355A	probably damaging	Het
Megf8	T	A	7: 25,053,163 (GRCm39)	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,974,448 (GRCm39)	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389 (GRCm39)	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,781,856 (GRCm39)	C534R	probably benign	Het
Nup155	A	G	15: 8,172,510 (GRCm39)	E832G	probably damaging	Het
Plcl2	A	G	17: 50,913,857 (GRCm39)	T289A	probably benign	Het
Ptprs	C	T	17: 56,741,990 (GRCm39)	R7Q	probably null	Het
Rab3ip	A	T	10: 116,754,865 (GRCm39)	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,049,323 (GRCm39)	F255I	unknown	Het
Senp6	T	C	9: 80,033,437 (GRCm39)	S475P	probably benign	Het
Shpk	T	C	11: 73,094,785 (GRCm39)	L67P	probably damaging	Het
Sik3	T	A	9: 46,130,801 (GRCm39)	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,265,020 (GRCm39)	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,848,685 (GRCm39)	V23A	probably benign	Het
Slit3	A	T	11: 35,435,575 (GRCm39)	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,056,637 (GRCm39)	V379A	possibly damaging	Het
Tex2	T	C	11: 106,397,690 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,586,143 (GRCm39)	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,489,815 (GRCm39)	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,792,358 (GRCm39)	C562S	probably damaging	Het
Wipi1	T	C	11: 109,468,490 (GRCm39)	N368S	probably benign	Het
Zbtb41	T	C	1: 139,351,831 (GRCm39)	S315P	probably damaging	Het

Other mutations in Or5w11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Or5w11	APN	2	87,458,973 (GRCm39)	missense	probably benign	0.03
IGL02186:Or5w11	APN	2	87,459,715 (GRCm39)	missense	probably benign	0.00
R0266:Or5w11	UTSW	2	87,459,626 (GRCm39)	missense	possibly damaging	0.79
R0849:Or5w11	UTSW	2	87,459,626 (GRCm39)	missense	possibly damaging	0.79
R1607:Or5w11	UTSW	2	87,459,321 (GRCm39)	missense	probably benign	0.14
R2105:Or5w11	UTSW	2	87,459,283 (GRCm39)	missense	probably benign	0.20
R2322:Or5w11	UTSW	2	87,459,118 (GRCm39)	missense	possibly damaging	0.86
R3434:Or5w11	UTSW	2	87,459,418 (GRCm39)	missense	probably benign	0.02
R4357:Or5w11	UTSW	2	87,458,810 (GRCm39)	start codon destroyed	probably null	1.00
R5139:Or5w11	UTSW	2	87,459,000 (GRCm39)	missense	probably benign	0.03
R5333:Or5w11	UTSW	2	87,459,458 (GRCm39)	missense	probably damaging	0.97
R5719:Or5w11	UTSW	2	87,459,475 (GRCm39)	splice site	probably null
R6449:Or5w11	UTSW	2	87,459,493 (GRCm39)	missense	possibly damaging	0.63
R7640:Or5w11	UTSW	2	87,459,436 (GRCm39)	missense	probably benign	0.01
R7941:Or5w11	UTSW	2	87,459,248 (GRCm39)	missense	probably benign	0.06
R8110:Or5w11	UTSW	2	87,458,951 (GRCm39)	missense	possibly damaging	0.75
R8393:Or5w11	UTSW	2	87,459,197 (GRCm39)	missense	probably damaging	0.97
R8877:Or5w11	UTSW	2	87,459,212 (GRCm39)	missense	probably damaging	1.00
R9250:Or5w11	UTSW	2	87,459,278 (GRCm39)	missense	probably benign	0.02
R9290:Or5w11	UTSW	2	87,459,209 (GRCm39)	missense	probably benign	0.00
R9313:Or5w11	UTSW	2	87,459,076 (GRCm39)	missense	probably benign	0.03
R9666:Or5w11	UTSW	2	87,459,152 (GRCm39)	missense	possibly damaging	0.78
X0027:Or5w11	UTSW	2	87,459,647 (GRCm39)	missense	possibly damaging	0.96
Z1176:Or5w11	UTSW	2	87,459,659 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCCACCTGTCTTTCTGTG -3'
(R):5'- TGGTGCTCAGTTCAAGGAAG -3'

Sequencing Primer
(F):5'- GTGATCTTTGCTATTCCACAGC -3'
(R):5'- GTGCCAGGTAATTTACTTGAGTATC -3'

Posted On

2014-09-17