Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Or5w8'

541568

Institutional Source

Beutler Lab

Gene Symbol

Or5w8

Ensembl Gene

ENSMUSG00000047039

Gene Name

olfactory receptor family 5 subfamily W member 8

Synonyms

MOR177-9, Olfr1151, GA_x6K02T2Q125-49358694-49359620

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87687521-87688447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87688295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 259 (Y259H)

Ref Sequence

ENSEMBL: ENSMUSP00000151107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061081] [ENSMUST00000217376]

AlphaFold

Q8VFQ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000061081
AA Change: Y259H

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

SMART Domains

Protein: ENSMUSP00000055394
Gene: ENSMUSG00000047039
AA Change: Y259H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	4.6e-45	PFAM
Pfam:7tm_1	41	290	1.7e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000217376
AA Change: Y259H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,784,604 (GRCm39)	A144V	probably damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,179,731 (GRCm39)	V243I	probably benign	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpa6	C	T	1: 10,665,913 (GRCm39)	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,542,543 (GRCm39)	Y8*	probably null	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly damaging	Het

Other mutations in Or5w8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01755:Or5w8	APN	2	87,687,854 (GRCm39)	missense	possibly damaging	0.60
IGL02314:Or5w8	APN	2	87,688,400 (GRCm39)	missense	probably damaging	1.00
R0127:Or5w8	UTSW	2	87,687,827 (GRCm39)	missense	probably benign
R0233:Or5w8	UTSW	2	87,688,096 (GRCm39)	missense	probably benign	0.19
R0233:Or5w8	UTSW	2	87,688,096 (GRCm39)	missense	probably benign	0.19
R0398:Or5w8	UTSW	2	87,688,401 (GRCm39)	missense	probably damaging	1.00
R1079:Or5w8	UTSW	2	87,687,699 (GRCm39)	missense	probably damaging	1.00
R1598:Or5w8	UTSW	2	87,688,095 (GRCm39)	missense	probably benign	0.01
R1965:Or5w8	UTSW	2	87,687,759 (GRCm39)	missense	probably benign	0.44
R3409:Or5w8	UTSW	2	87,688,005 (GRCm39)	nonsense	probably null
R4824:Or5w8	UTSW	2	87,687,621 (GRCm39)	missense	probably benign	0.24
R4962:Or5w8	UTSW	2	87,687,632 (GRCm39)	missense	probably benign	0.02
R4986:Or5w8	UTSW	2	87,687,858 (GRCm39)	missense	probably damaging	0.97
R5324:Or5w8	UTSW	2	87,688,040 (GRCm39)	missense	probably damaging	1.00
R5934:Or5w8	UTSW	2	87,687,585 (GRCm39)	missense	probably benign
R6335:Or5w8	UTSW	2	87,687,811 (GRCm39)	nonsense	probably null
R6389:Or5w8	UTSW	2	87,688,367 (GRCm39)	missense	probably damaging	1.00
R7329:Or5w8	UTSW	2	87,687,585 (GRCm39)	missense	probably benign
R8228:Or5w8	UTSW	2	87,688,284 (GRCm39)	missense	probably benign	0.12
R8506:Or5w8	UTSW	2	87,688,181 (GRCm39)	missense	probably damaging	1.00
R8726:Or5w8	UTSW	2	87,688,161 (GRCm39)	missense	probably benign	0.14
R8845:Or5w8	UTSW	2	87,687,545 (GRCm39)	missense	probably benign	0.00
R9548:Or5w8	UTSW	2	87,688,040 (GRCm39)	missense	probably damaging	1.00
Z1177:Or5w8	UTSW	2	87,687,768 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- CCTGCTCTGAAATACAAGTCAATG -3'
(R):5'- GACACTTTAGAACCATGTGTGC -3'

Sequencing Primer
(F):5'- CTGAAATACAAGTCAATGAACTTGCC -3'
(R):5'- AGTGTTTGAAGAGACACATTTTACC -3'

Posted On

2018-11-28