Mutagenetix > Incidental Mutations

Incidental Mutation 'R5240:Olfr495'

400723

Institutional Source

Beutler Lab

Gene Symbol

Olfr495

Ensembl Gene

ENSMUSG00000110253

Gene Name

olfactory receptor 495

Synonyms

MOR204-37, GA_x6K02T2PBJ9-10725148-10726140

MMRRC Submission

042811-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108393167-108397513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108395702 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 194 (D194V)

Ref Sequence

ENSEMBL: ENSMUSP00000150689 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071505
AA Change: D194V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071440
Gene: ENSMUSG00000094104
AA Change: D194V

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: D194V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215215
AA Change: D194V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.3623

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc42bpg	T	G	19: 6,315,899	L786R	probably damaging	Het
Cfap73	C	T	5: 120,629,707	V260I	probably damaging	Het
Chchd10	A	T	10: 75,937,449	N131I	probably damaging	Het
Chn2	T	C	6: 54,220,695	V190A	probably benign	Het
Clec2l	C	T	6: 38,673,452	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,174,515	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 24,877,977	E643G	probably damaging	Het
Ddx31	A	G	2: 28,846,030	M127V	probably benign	Het
Dennd1b	A	G	1: 139,062,877	Y193C	probably damaging	Het
Dgke	T	A	11: 89,050,685	D288V	probably damaging	Het
Dst	T	A	1: 34,208,558	L1683*	probably null	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,223,020		probably benign	Het
Eif2b5	G	A	16: 20,501,398	V115I	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fgfr3	A	T	5: 33,730,038	T234S	probably damaging	Het
Gipc2	A	T	3: 152,102,662	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810		noncoding transcript	Het
Gm5538	A	C	3: 59,752,028	T301P	probably damaging	Het
Haus6	A	G	4: 86,583,178	Y819H	possibly damaging	Het
Homez	G	A	14: 54,858,074	A59V	probably damaging	Het
Iffo1	T	C	6: 125,152,460	V363A	probably benign	Het
Ifit2	T	A	19: 34,574,396	D445E	probably benign	Het
Ipo9	A	C	1: 135,389,606		probably benign	Het
Kcnv1	C	T	15: 45,113,244	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,401,904		probably benign	Het
Mplkip	T	C	13: 17,695,719	S79P	probably damaging	Het
Nae1	T	C	8: 104,523,144		probably benign	Het
Nfe2l2	A	T	2: 75,676,009	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,537,024	R297C	probably damaging	Het
Olfr397	T	C	11: 73,964,806	L66P	probably damaging	Het
Olfr411	T	A	11: 74,347,242	D114V	probably damaging	Het
Osbp	T	A	19: 11,978,290	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,309,926	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,691,050	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,448,086		probably benign	Het
Pigo	C	A	4: 43,020,675	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,275,641	T2721K	probably benign	Het
Pls1	A	T	9: 95,776,622		probably null	Het
Prim2	A	G	1: 33,480,316		probably benign	Het
Prkd2	T	A	7: 16,855,786	I471N	probably benign	Het
Prrc2b	C	T	2: 32,206,396	T593I	probably benign	Het
Ptch2	C	A	4: 117,106,138		probably benign	Het
Pth	A	T	7: 113,385,844	D107E	probably damaging	Het
Pycr2	A	C	1: 180,907,623	Q315P	probably benign	Het
Rbpj	A	T	5: 53,649,440	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,743,767	R560L	probably damaging	Het
Sdr42e1	T	C	8: 117,663,282	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,341,588	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,481,006		probably null	Het
Stom	T	A	2: 35,336,877	I15F	probably benign	Het
Sugp2	G	T	8: 70,243,275	L299F	probably benign	Het
Tbrg4	A	T	11: 6,617,516		probably null	Het
Tkt	G	T	14: 30,565,678	G210C	probably damaging	Het
Tmem163	G	A	1: 127,491,552		probably benign	Het
Trip12	A	G	1: 84,794,133	I98T	probably benign	Het
Unc5b	A	G	10: 60,774,640	I466T	probably damaging	Het
Unc79	T	A	12: 103,070,751	F599L	probably damaging	Het
Vav1	G	A	17: 57,297,122	E151K	probably damaging	Het
Vcan	T	G	13: 89,692,532	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,406,937	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,537,218	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,329,701		probably benign	Het
Znhit1	T	A	5: 136,982,381		probably null	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
R1398:Olfr495	UTSW	7	108395501	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAAATGTCCAGAGAAGCCTG -3'
(R):5'- CAACACCTTGTTCTGGTCAGTG -3'

Sequencing Primer
(F):5'- TCCAGAGAAGCCTGTATCCAGTTG -3'
(R):5'- CTGGACTTGGGCATCACATAAATG -3'

Posted On

2016-07-06