Mutagenetix > Incidental Mutation

Incidental Mutation 'R5333:Or5w11'

423334

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

042915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5333 (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 87459458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 217 (Y217C)

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: Y217C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000088214
Gene: ENSMUSG00000068819
AA Change: Y217C

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: Y217C

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000216082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216756
AA Change: Y101C

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

Meta Mutation Damage Score

0.4353

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (56/58)

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
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abca14	T	A	7: 119,888,769 (GRCm39)	Y1238*	probably null	Het
Abcb5	A	T	12: 118,831,677 (GRCm39)	V1225D	probably damaging	Het
Arhgef15	A	G	11: 68,838,022 (GRCm39)		probably benign	Het
As3mt	A	G	19: 46,696,635 (GRCm39)	R58G	probably null	Het
Asap1	T	G	15: 63,999,263 (GRCm39)	N525T	possibly damaging	Het
Bhmt2	A	G	13: 93,807,938 (GRCm39)	V50A	probably benign	Het
Bpnt2	A	C	4: 4,767,963 (GRCm39)	V271G	possibly damaging	Het
Ccdc180	A	T	4: 45,890,935 (GRCm39)	I36F	possibly damaging	Het
Cd209c	A	G	8: 3,994,976 (GRCm39)	S63P	probably damaging	Het
Cdc37	T	C	9: 21,054,457 (GRCm39)	E56G	possibly damaging	Het
Cdkal1	T	C	13: 29,510,135 (GRCm39)	Y541C	probably benign	Het
Cenph	G	T	13: 100,898,280 (GRCm39)	H208N	probably benign	Het
Cfap65	A	T	1: 74,942,334 (GRCm39)	L1740Q	probably benign	Het
Cfap74	A	G	4: 155,521,197 (GRCm39)	D623G	probably damaging	Het
Ckap4	C	A	10: 84,363,474 (GRCm39)	V530L	probably damaging	Het
Cldn13	A	T	5: 134,943,869 (GRCm39)	N105K	probably benign	Het
Ddn	T	C	15: 98,703,237 (GRCm39)	D685G	possibly damaging	Het
Fdxr	T	C	11: 115,163,084 (GRCm39)	I70V	probably benign	Het
Fn1	A	T	1: 71,663,339 (GRCm39)	Y1050N	probably damaging	Het
Iqcf3	A	G	9: 106,430,860 (GRCm39)	I96T	possibly damaging	Het
Itgax	A	G	7: 127,741,455 (GRCm39)	Y822C	probably damaging	Het
Katnb1	A	T	8: 95,822,234 (GRCm39)	I286L	possibly damaging	Het
Lrp2	A	C	2: 69,355,572 (GRCm39)	I424R	probably benign	Het
Lrpprc	C	A	17: 85,097,821 (GRCm39)	A41S	probably benign	Het
Mast3	A	G	8: 71,236,145 (GRCm39)	L761P	probably benign	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Mpp4	C	A	1: 59,196,600 (GRCm39)	R44L	probably benign	Het
Nalf1	T	A	8: 9,820,762 (GRCm39)	Q86L	possibly damaging	Het
Nkain3	T	A	4: 20,484,889 (GRCm39)	M63L	probably benign	Het
Nup88	A	C	11: 70,835,842 (GRCm39)		probably benign	Het
Obscn	A	T	11: 58,953,518 (GRCm39)	C3837S	probably damaging	Het
Ogdh	T	G	11: 6,302,126 (GRCm39)	L850V	probably damaging	Het
Or4f17-ps1	A	G	2: 111,358,048 (GRCm39)	I148V	probably benign	Het
Panx2	T	C	15: 88,952,742 (GRCm39)	I411T	possibly damaging	Het
Papss1	T	A	3: 131,348,805 (GRCm39)	M585K	probably damaging	Het
Pcbp2	T	G	15: 102,394,456 (GRCm39)	L180R	possibly damaging	Het
Pcdha7	A	T	18: 37,107,619 (GRCm39)	T215S	probably benign	Het
Pcdhga4	C	T	18: 37,818,477 (GRCm39)	R9C	probably benign	Het
Plin4	A	G	17: 56,411,970 (GRCm39)	V687A	probably benign	Het
Potefam1	A	T	2: 111,024,682 (GRCm39)	Y61N	possibly damaging	Het
Psma6	A	G	12: 55,454,213 (GRCm39)		probably benign	Het
Rcn1	A	T	2: 105,219,471 (GRCm39)	S241T	probably benign	Het
Scgb2b18	A	T	7: 32,872,700 (GRCm39)	L35H	probably damaging	Het
Slc11a1	A	C	1: 74,423,304 (GRCm39)	D385A	probably damaging	Het
Stk31	T	A	6: 49,446,086 (GRCm39)	C930S	probably benign	Het
Syt10	T	A	15: 89,725,932 (GRCm39)	Q14L	probably benign	Het
Tnxb	T	G	17: 34,909,205 (GRCm39)	W1578G	probably damaging	Het
Triml1	C	T	8: 43,583,327 (GRCm39)	A425T	possibly damaging	Het
Vil1	G	A	1: 74,471,549 (GRCm39)	V777I	probably benign	Het
Vmn1r175	T	C	7: 23,508,004 (GRCm39)	I208V	possibly 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
R2077:Or5w11	UTSW	2	87,459,173 (GRCm39)	missense	probably damaging	1.00
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
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'- GGTGGGAACATCAGATGCTTTG -3'
(R):5'- ATCAGTGGGTTCAGCATAGGAATC -3'

Sequencing Primer
(F):5'- GATACATACAACTTTGGCATTCCGC -3'
(R):5'- TGGGTTCAGCATAGGAATCACAAG -3'

Posted On

2016-08-04