Mutagenetix > Incidental Mutations

Incidental Mutation 'R0271:Olfr635'

35299

Institutional Source

Beutler Lab

Gene Symbol

Olfr635

Ensembl Gene

ENSMUSG00000094520

Gene Name

olfactory receptor 635

Synonyms

GA_x6K02T2PBJ9-6713641-6714588, MOR5-2

MMRRC Submission

038497-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R0271 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

103971152-103987540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103979630 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 146 (I146K)

Ref Sequence

ENSEMBL: ENSMUSP00000148103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098185] [ENSMUST00000209473]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098185
AA Change: I152K

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: I152K

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	1.2e-119	PFAM
Pfam:7TM_GPCR_Srsx	43	182	1.3e-9	PFAM
Pfam:7tm_1	49	300	1.9e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121874

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209473
AA Change: I146K

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,686,329		probably benign	Het
4930544D05Rik	A	G	11: 70,616,648	Q173R	possibly damaging	Het
Ampd2	C	T	3: 108,086,716		probably benign	Het
Ankrd17	T	C	5: 90,254,799	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,602,510	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 141,250,607	M542I	probably benign	Het
C7	T	C	15: 5,015,380	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,575,823	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,111,715	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,257,709		probably null	Het
Cwc22	A	C	2: 77,920,858	N389K	probably benign	Het
Dgkb	T	A	12: 38,228,026	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,615,775	R950G	probably damaging	Het
Eml6	A	G	11: 29,848,949	V437A	possibly damaging	Het
Fanca	T	C	8: 123,272,441		probably benign	Het
Fgd2	C	G	17: 29,367,008	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,943,390	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,920,666	F63S	probably damaging	Het
Gm14496	A	T	2: 181,995,954	M274L	probably benign	Het
Gm7008	T	A	12: 40,223,560		probably benign	Het
Gm9922	T	A	14: 101,729,553		probably benign	Het
Gtf3c3	A	T	1: 54,428,812	M222K	possibly damaging	Het
Hspa1b	A	G	17: 34,958,832	V59A	probably benign	Het
Impg1	T	C	9: 80,386,879		probably benign	Het
Lpcat4	T	A	2: 112,243,245		probably null	Het
Mipol1	T	C	12: 57,460,954		probably benign	Het
Mrpl37	C	A	4: 107,066,461	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,809,685	N1471D	possibly damaging	Het
Nes	G	A	3: 87,978,642	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,361,737	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,161,765	I946V	possibly damaging	Het
Obscn	T	G	11: 59,056,742		probably benign	Het
Olfr1024	A	T	2: 85,904,289	M255K	possibly damaging	Het
Olfr1239	T	A	2: 89,418,158	Y85F	probably benign	Het
Olfr1491	A	T	19: 13,705,135	T103S	probably benign	Het
Pck2	T	C	14: 55,544,584		probably null	Het
Pcsk9	A	G	4: 106,449,049		probably benign	Het
Phyhd1	A	T	2: 30,269,822	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,837,918	G1001S	probably null	Het
Prss52	T	C	14: 64,113,678	V304A	probably benign	Het
Prss55	C	T	14: 64,075,607	G276D	probably benign	Het
Pzp	A	T	6: 128,519,514	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,457		probably null	Het
Ripply3	A	T	16: 94,335,757	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,104,403	D255E	probably benign	Het
Rsad1	T	C	11: 94,548,464		probably benign	Het
Serpini2	A	G	3: 75,246,578	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125	E331V	probably benign	Het
Slc38a7	A	G	8: 95,845,878	F179L	probably damaging	Het
Stmn4	C	T	14: 66,356,283	Q42*	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tab2	G	A	10: 7,919,158	A520V	probably benign	Het
Tcp10a	A	G	17: 7,331,156	I162M	probably benign	Het
Tmprss13	A	G	9: 45,333,688		probably benign	Het
Tnfrsf14	A	G	4: 154,926,597		probably null	Het
Tpx2	A	G	2: 152,867,367		probably benign	Het
Vmn2r105	T	A	17: 20,234,703	N57I	probably damaging	Het
Wars	C	T	12: 108,875,193	V220I	probably benign	Het
Washc1	T	A	17: 66,116,719	D212E	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,626,825	D139G	probably benign	Het
Zfp235	A	T	7: 24,137,131	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391	V230I	probably benign	Het

Other mutations in Olfr635

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01064:Olfr635	APN	7	103979792	missense	probably benign	0.09
IGL01330:Olfr635	APN	7	103980142	utr 3 prime	probably benign
IGL01433:Olfr635	APN	7	103979332	missense	probably damaging	1.00
FR4304:Olfr635	UTSW	7	103979903	frame shift	probably null
FR4340:Olfr635	UTSW	7	103979903	frame shift	probably null
FR4342:Olfr635	UTSW	7	103979903	frame shift	probably null
R1909:Olfr635	UTSW	7	103979790	nonsense	probably null
R2212:Olfr635	UTSW	7	103979402	missense	probably damaging	0.98
R2484:Olfr635	UTSW	7	103979338	missense	probably benign
R3412:Olfr635	UTSW	7	103979402	missense	probably damaging	0.98
R4513:Olfr635	UTSW	7	103979441	missense	probably benign	0.03
R4559:Olfr635	UTSW	7	103979560	missense	probably damaging	1.00
R5032:Olfr635	UTSW	7	103979374	missense	probably damaging	0.98
R5436:Olfr635	UTSW	7	103979266	missense	probably benign
R5591:Olfr635	UTSW	7	103980113	missense	probably benign	0.00
R5617:Olfr635	UTSW	7	103979714	missense	possibly damaging	0.91
R5911:Olfr635	UTSW	7	103979708	missense	probably benign
R6249:Olfr635	UTSW	7	103979611	missense	possibly damaging	0.85
R6275:Olfr635	UTSW	7	103979974	missense	probably damaging	1.00
R6806:Olfr635	UTSW	7	103979564	missense	possibly damaging	0.72
R7589:Olfr635	UTSW	7	103979791	missense	probably damaging	1.00
R8188:Olfr635	UTSW	7	103979536	missense	probably damaging	1.00
R8337:Olfr635	UTSW	7	103979374	missense	probably damaging	0.98
RF004:Olfr635	UTSW	7	103979903	frame shift	probably null
RF005:Olfr635	UTSW	7	103979561	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAACCGTTATCCGCACAGAGCCATC -3'
(R):5'- AGTGGCTGTGTTCAAGACACTCTTC -3'

Sequencing Primer
(F):5'- AGTCATGCAGCTCCTTTGG -3'
(R):5'- CACTCTTCAGGATAAGTGCATAGG -3'

Posted On

2013-05-09