Mutagenetix > Incidental Mutation

Incidental Mutation 'R1398:Olfr495'

160236

Institutional Source

Beutler Lab

Gene Symbol

Olfr495

Ensembl Gene

ENSMUSG00000110253

Gene Name

olfactory receptor 495

Synonyms

MOR204-37, GA_x6K02T2PBJ9-10725148-10726140

MMRRC Submission

039460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108393167-108397513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108395501 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 127 (V127E)

Ref Sequence

ENSEMBL: ENSMUSP00000150689 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210990] [ENSMUST00000215215]

AlphaFold

Q8VF12

Predicted Effect

probably damaging
Transcript: ENSMUST00000071505
AA Change: V127E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071440
Gene: ENSMUSG00000094104
AA Change: V127E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	3.6e-51	PFAM
Pfam:7tm_1	44	293	2.7e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210990
AA Change: V127E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215215
AA Change: V127E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6157

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.7%

Validation Efficiency

96% (75/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,341	Q253K	possibly damaging	Het
9330182L06Rik	A	G	5: 9,380,297	Y69C	probably damaging	Het
Abca17	T	C	17: 24,328,537	K288E	probably damaging	Het
Aldh3a2	T	C	11: 61,256,736		probably null	Het
Anks1b	A	G	10: 90,050,029	T196A	probably damaging	Het
Anks6	T	A	4: 47,044,926	T327S	possibly damaging	Het
Bdh2	T	C	3: 135,295,296		probably benign	Het
C4b	T	A	17: 34,730,719		probably benign	Het
Cacna2d1	G	A	5: 16,357,766	V847I	possibly damaging	Het
Cadps	G	T	14: 12,449,822	T1129K	probably damaging	Het
Cdc45	A	G	16: 18,781,971		probably benign	Het
Cep63	A	T	9: 102,603,086		probably benign	Het
Chil4	T	A	3: 106,219,509		probably null	Het
Cnot11	A	G	1: 39,545,180	R478G	probably damaging	Het
Cyp2c67	A	G	19: 39,638,625	S254P	probably damaging	Het
Dnah11	T	A	12: 118,057,106	K87*	probably null	Het
Dpy19l2	T	A	9: 24,581,263		probably benign	Het
Dsc1	A	T	18: 20,088,336	I694N	probably damaging	Het
Ehd4	A	T	2: 120,127,600	I168K	probably benign	Het
Eif4e	A	T	3: 138,546,375	N25Y	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Fam160b1	T	A	19: 57,372,926		probably benign	Het
Fgfrl1	T	A	5: 108,706,281		probably benign	Het
Gm3159	T	A	14: 4,398,586	Y92*	probably null	Het
Gm4922	T	A	10: 18,783,748	S409C	possibly damaging	Het
Gmcl1	G	A	6: 86,714,262		probably benign	Het
Grsf1	A	G	5: 88,665,847	Y231H	probably benign	Het
Heatr4	T	A	12: 83,967,621	H614L	possibly damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Isg20l2	C	A	3: 87,938,754	L325I	probably benign	Het
Kalrn	A	G	16: 34,212,820	Y879H	probably damaging	Het
Kcnk10	C	A	12: 98,436,226	W318L	probably damaging	Het
Kctd1	T	C	18: 15,062,597	E323G	possibly damaging	Het
Kif4	G	T	X: 100,689,097	A492S	probably benign	Het
Krtap4-1	T	C	11: 99,627,732	T151A	unknown	Het
Ldlr	A	T	9: 21,739,542	Q449L	probably benign	Het
Lepr	T	A	4: 101,792,019	D872E	probably damaging	Het
Lgals12	C	T	19: 7,603,957		probably benign	Het
Lrig3	C	T	10: 126,003,088	P488L	probably benign	Het
Lrrc4b	A	C	7: 44,462,452	I583L	probably benign	Het
Lyst	T	C	13: 13,740,536	S3272P	possibly damaging	Het
March2	T	C	17: 33,696,122	H166R	probably damaging	Het
Mtbp	C	A	15: 55,577,537	Y373*	probably null	Het
Myh2	C	T	11: 67,185,287	H767Y	probably benign	Het
Ncam1	G	A	9: 49,517,589		probably benign	Het
Neb	T	A	2: 52,289,646	N1282Y	probably damaging	Het
Nectin3	A	G	16: 46,448,756	Y428H	possibly damaging	Het
Nrros	A	T	16: 32,143,144	I649N	probably damaging	Het
Nvl	A	T	1: 181,097,126		probably benign	Het
Pms1	A	T	1: 53,207,276	V368E	possibly damaging	Het
Polq	T	A	16: 37,062,495	S1674T	possibly damaging	Het
Ppp1r21	T	C	17: 88,542,879	V31A	probably damaging	Het
Rev3l	T	A	10: 39,821,583	V692E	probably benign	Het
Robo4	T	C	9: 37,408,076		probably null	Het
Rps6kc1	T	C	1: 190,800,015	I597V	probably damaging	Het
Rtel1	T	A	2: 181,335,865		probably null	Het
Scn9a	A	G	2: 66,484,586	M1587T	probably benign	Het
Sec31b	T	A	19: 44,523,665	I597F	probably benign	Het
Skint5	T	C	4: 113,779,071	N650S	unknown	Het
Slc22a28	G	T	19: 8,130,202	S167*	probably null	Het
Slfn1	T	A	11: 83,121,142	M28K	probably damaging	Het
Smc6	T	C	12: 11,271,879		probably benign	Het
Sox8	T	C	17: 25,567,883	H282R	probably benign	Het
Syngr3	C	A	17: 24,686,440	V161L	probably benign	Het
Trak1	C	T	9: 121,454,359	S397F	probably damaging	Het
Uso1	C	T	5: 92,181,468	A405V	probably benign	Het
Uvrag	G	T	7: 99,065,820	Y190*	probably null	Het
Vps13d	A	T	4: 145,099,983	L1726Q	probably null	Het
Vwf	A	T	6: 125,603,457	Q556L	probably benign	Het
Wdr70	T	A	15: 8,035,844	M246L	probably benign	Het
Yipf3	T	C	17: 46,251,446	F285S	probably damaging	Het
Zdhhc13	G	A	7: 48,826,873	G579R	probably damaging	Het
Zdhhc18	G	C	4: 133,627,297	F125L	probably benign	Het

Other mutations in Olfr495

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Olfr495	APN	7	108395245	missense	probably benign	0.31
IGL02430:Olfr495	APN	7	108395722	missense	probably benign	0.01
IGL02511:Olfr495	APN	7	108396058	missense	probably benign	0.06
IGL02932:Olfr495	APN	7	108395513	missense	probably benign	0.03
IGL03222:Olfr495	APN	7	108395186	missense	possibly damaging	0.77
FR4340:Olfr495	UTSW	7	108395893	missense	probably benign
FR4340:Olfr495	UTSW	7	108395898	missense	probably benign
FR4342:Olfr495	UTSW	7	108395893	missense	probably benign
FR4342:Olfr495	UTSW	7	108395898	missense	probably benign
R0141:Olfr495	UTSW	7	108395368	missense	probably benign	0.06
R0600:Olfr495	UTSW	7	108395231	missense	probably damaging	0.98
R0635:Olfr495	UTSW	7	108395764	missense	probably benign	0.01
R0685:Olfr495	UTSW	7	108395263	missense	possibly damaging	0.67
R1220:Olfr495	UTSW	7	108395332	missense	probably benign	0.03
R1501:Olfr495	UTSW	7	108396082	missense	probably benign	0.00
R1990:Olfr495	UTSW	7	108395834	missense	probably benign	0.00
R2091:Olfr495	UTSW	7	108395861	missense	probably damaging	1.00
R2473:Olfr495	UTSW	7	108395504	missense	probably damaging	1.00
R3120:Olfr495	UTSW	7	108395723	missense	possibly damaging	0.67
R4771:Olfr495	UTSW	7	108396022	nonsense	probably null
R5240:Olfr495	UTSW	7	108395702	missense	probably damaging	0.99
R5510:Olfr495	UTSW	7	108395125	missense	probably benign	0.01
R5703:Olfr495	UTSW	7	108395500	missense	probably benign	0.23
R6102:Olfr495	UTSW	7	108395284	missense	probably damaging	0.99
R6110:Olfr495	UTSW	7	108395828	missense	possibly damaging	0.93
R6782:Olfr495	UTSW	7	108395537	missense	probably damaging	1.00
R7062:Olfr495	UTSW	7	108395830	nonsense	probably null
R7783:Olfr495	UTSW	7	108396089	missense	probably benign	0.15
R8386:Olfr495	UTSW	7	108395348	small deletion	probably benign
R9347:Olfr495	UTSW	7	108396052	missense	probably benign	0.02
R9468:Olfr495	UTSW	7	108395642	missense	possibly damaging	0.56
R9554:Olfr495	UTSW	7	108395158	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGAGAGACATCCTCTTCACCATCATCC -3'
(R):5'- TGTTGTCAGTGTGATAAAGCCAGCAG -3'

Sequencing Primer
(F):5'- CTATCTGGTGACCGTGTCCG -3'
(R):5'- ATCAGAACAGGAGAGTTCCAC -3'

Posted On

2014-03-14