Mutagenetix > Incidental Mutations

Incidental Mutation 'R0346:Olfr385'

34289

Institutional Source

Beutler Lab

Gene Symbol

Olfr385

Ensembl Gene

ENSMUSG00000095095

Gene Name

olfactory receptor 385

Synonyms

MOR135-3, GA_x6K02T2P1NL-3760313-3759375

MMRRC Submission

038553-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R0346 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73588302-73593008 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73589457 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 94 (Y94H)

Ref Sequence

ENSEMBL: ENSMUSP00000149293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071553] [ENSMUST00000215689]

Predicted Effect

probably damaging
Transcript: ENSMUST00000071553
AA Change: Y94H

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

SMART Domains

Protein: ENSMUSP00000071484
Gene: ENSMUSG00000095095
AA Change: Y94H

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	6.1e-55	PFAM
Pfam:7TM_GPCR_Srsx	35	305	1.7e-6	PFAM
Pfam:7tm_1	41	290	2.2e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215689
AA Change: Y94H

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

Meta Mutation Damage Score

0.6058

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.7%
20x: 96.4%

Validation Efficiency

100% (79/79)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,566,278	I4406L	probably damaging	Het
Abca16	T	A	7: 120,435,932	C314S	probably damaging	Het
Add3	C	T	19: 53,216,956	R46*	probably null	Het
Alas1	A	T	9: 106,243,351	S82T	possibly damaging	Het
Alkbh5	C	G	11: 60,538,741	R107G	possibly damaging	Het
Ap3b1	A	T	13: 94,445,971	R365*	probably null	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
AU021092	T	C	16: 5,216,854	D168G	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Caln1	C	A	5: 130,822,921	H184N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc191	T	C	16: 43,938,952	V372A	probably damaging	Het
Ccng2	T	G	5: 93,270,894	I126S	probably damaging	Het
Cep85	A	T	4: 134,132,422	N643K	probably damaging	Het
Clvs2	G	C	10: 33,622,546	S129R	possibly damaging	Het
Cntn1	G	T	15: 92,232,087		probably benign	Het
Cttn	A	T	7: 144,452,539		probably benign	Het
Dedd2	T	C	7: 25,211,269	S161G	possibly damaging	Het
Dnajb13	T	C	7: 100,503,925	D263G	probably damaging	Het
Dppa4	T	A	16: 48,289,324		probably benign	Het
Ear2	A	G	14: 44,102,906	E7G	probably damaging	Het
Eif2b4	A	G	5: 31,188,108		probably benign	Het
Etl4	G	T	2: 20,759,652		probably null	Het
Fbxo15	T	A	18: 84,960,221		probably null	Het
Gm8765	T	C	13: 50,703,310	Y995H	probably benign	Het
Gm9970	A	G	5: 31,240,838		probably benign	Het
Hap1	A	G	11: 100,356,029	S17P	probably benign	Het
Hgd	C	T	16: 37,588,774		probably benign	Het
Inpp5f	T	A	7: 128,690,668	L16Q	probably damaging	Het
Islr2	G	A	9: 58,198,343	R545*	probably null	Het
Itgav	G	T	2: 83,792,609	C675F	probably damaging	Het
Kif13a	T	A	13: 46,814,219	I403L	possibly damaging	Het
Kif14	T	A	1: 136,468,160	I68N	probably damaging	Het
Kif26a	G	T	12: 112,179,348	K1764N	probably null	Het
Lrrd1	C	A	5: 3,850,215	F173L	probably benign	Het
Mroh4	G	C	15: 74,614,292		probably benign	Het
Mrvi1	T	C	7: 110,898,976	D404G	probably damaging	Het
Msh5	A	G	17: 35,029,888	V723A	probably benign	Het
Mybph	T	G	1: 134,197,754	I279S	probably damaging	Het
Myh4	A	T	11: 67,260,326	I1936L	probably benign	Het
Myo1h	A	T	5: 114,355,209	T704S	probably benign	Het
Nav2	C	A	7: 49,604,585	T2377K	probably benign	Het
Nipbl	T	G	15: 8,360,956	Q276H	probably damaging	Het
Nlrp9b	T	C	7: 20,024,515	L559P	probably damaging	Het
Nup210l	T	A	3: 90,189,438	V1318E	probably damaging	Het
Olfr1427	A	T	19: 12,099,439	S67T	probably damaging	Het
Olfr18	A	G	9: 20,314,411	S170P	probably benign	Het
Olfr765	C	A	10: 129,046,473	V197F	possibly damaging	Het
P2ry13	T	C	3: 59,209,566	T264A	possibly damaging	Het
Plekhg5	T	C	4: 152,114,253	L966P	probably benign	Het
Prss35	A	G	9: 86,755,351	K58R	probably benign	Het
Ptafr	T	A	4: 132,580,079	L260*	probably null	Het
Pum1	A	T	4: 130,779,805	T1157S	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf145	A	G	11: 44,555,164	Y275C	probably damaging	Het
Rpl6	A	T	5: 121,208,491	K218N	possibly damaging	Het
Rps6	T	C	4: 86,855,981	T128A	probably benign	Het
Ryr1	G	T	7: 29,067,588		probably benign	Het
Scel	A	T	14: 103,529,984	Q26H	probably damaging	Het
Sfxn4	A	T	19: 60,858,673	D57E	probably benign	Het
Slc35d1	A	C	4: 103,190,847	L240R	probably damaging	Het
Smcr8	A	G	11: 60,779,750	I575V	probably benign	Het
Syk	G	A	13: 52,640,659	M476I	probably damaging	Het
Tbcel	A	T	9: 42,437,243		probably benign	Het
Tob2	C	A	15: 81,858,223	G65W	probably damaging	Het
Trim16	A	G	11: 62,840,694	N464D	probably benign	Het
Trim36	T	C	18: 46,199,709		probably benign	Het
Trpv4	C	A	5: 114,630,529		probably benign	Het
Tsga10	T	A	1: 37,840,519	T64S	possibly damaging	Het
Ttc26	T	C	6: 38,409,435	C364R	probably damaging	Het
Vars2	A	T	17: 35,664,864		probably benign	Het
Vmn1r72	C	A	7: 11,669,694	V276L	probably benign	Het
Vps13a	T	A	19: 16,677,969	K1898N	probably benign	Het
Vps18	A	G	2: 119,297,164	M823V	probably damaging	Het
Washc2	T	C	6: 116,220,523		probably benign	Het
Zfp763	A	T	17: 33,019,747	H141Q	probably benign	Het

Other mutations in Olfr385

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01570:Olfr385	APN	11	73589383	missense	probably benign	0.34
IGL02045:Olfr385	APN	11	73589232	missense	probably damaging	1.00
IGL02324:Olfr385	APN	11	73589255	missense	probably benign	0.02
IGL02328:Olfr385	APN	11	73589255	missense	probably benign	0.02
IGL02562:Olfr385	APN	11	73589411	missense	probably benign
IGL02715:Olfr385	APN	11	73589121	missense	probably benign	0.00
IGL03182:Olfr385	APN	11	73589442	missense	probably benign	0.04
IGL03048:Olfr385	UTSW	11	73589005	missense	possibly damaging	0.56
R0675:Olfr385	UTSW	11	73589252	missense	probably damaging	1.00
R0751:Olfr385	UTSW	11	73589144	missense	probably benign	0.02
R1220:Olfr385	UTSW	11	73589377	nonsense	probably null
R1389:Olfr385	UTSW	11	73589543	missense	possibly damaging	0.88
R1484:Olfr385	UTSW	11	73589361	missense	possibly damaging	0.91
R1619:Olfr385	UTSW	11	73589292	missense	probably damaging	1.00
R2290:Olfr385	UTSW	11	73588919	missense	probably benign	0.37
R3713:Olfr385	UTSW	11	73588905	missense	probably damaging	1.00
R3781:Olfr385	UTSW	11	73589013	missense	probably damaging	1.00
R3781:Olfr385	UTSW	11	73589368	nonsense	probably null
R3782:Olfr385	UTSW	11	73589013	missense	probably damaging	1.00
R3782:Olfr385	UTSW	11	73589368	nonsense	probably null
R4402:Olfr385	UTSW	11	73589255	missense	probably benign	0.02
R4721:Olfr385	UTSW	11	73589447	missense	probably damaging	1.00
R5157:Olfr385	UTSW	11	73589723	missense	probably damaging	1.00
R5995:Olfr385	UTSW	11	73589250	missense	probably benign
R6373:Olfr385	UTSW	11	73588898	missense	probably benign	0.42
R6658:Olfr385	UTSW	11	73589048	missense	probably damaging	0.99
R7046:Olfr385	UTSW	11	73589732	missense	probably benign
R7096:Olfr385	UTSW	11	73589637	missense	probably benign	0.03
R7238:Olfr385	UTSW	11	73589735	start codon destroyed	probably null	0.99
R7537:Olfr385	UTSW	11	73589268	missense	probably benign	0.04
R7548:Olfr385	UTSW	11	73588976	missense	possibly damaging	0.56
R7888:Olfr385	UTSW	11	73589528	missense	probably damaging	0.99
R7968:Olfr385	UTSW	11	73589328	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GTGTGCAATGTGGAATTCAGCATGG -3'
(R):5'- TGACCCAGGATGAGCACATAGCAG -3'

Sequencing Primer
(F):5'- TTCAGCATGGTAAGTAACCAGGAC -3'
(R):5'- GGAGTTTTGGCATCATAACCAC -3'

Posted On

2013-05-09