Mutagenetix > Incidental Mutation

Incidental Mutation 'R0136:Olfr394'

21968

Institutional Source

Beutler Lab

Gene Symbol

Olfr394

Ensembl Gene

ENSMUSG00000056921

Gene Name

olfactory receptor 394

Synonyms

MOR135-8, GA_x6K02T2P1NL-4043306-4042374

MMRRC Submission

038421-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73883337-73890771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73887785 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 196 (M196V)

Ref Sequence

ENSEMBL: ENSMUSP00000149527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071478] [ENSMUST00000214284] [ENSMUST00000216608]

AlphaFold

Q8VGR5

Predicted Effect

probably benign
Transcript: ENSMUST00000071478
AA Change: M196V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: M196V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	306	1.4e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	303	4e-7	PFAM
Pfam:7tm_1	39	288	1.9e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214284
AA Change: M196V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000216608
AA Change: M196V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

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
Ap4b1	T	C	3: 103,809,946	M1T	probably null	Het
Arg2	T	C	12: 79,150,006	L167P	probably damaging	Het
Atxn1	A	G	13: 45,567,169	S417P	probably damaging	Het
Baz2b	A	G	2: 59,901,954	V1949A	probably benign	Het
Bcl3	A	G	7: 19,809,569	V324A	probably damaging	Het
Btbd10	A	T	7: 113,329,878	S230T	possibly damaging	Het
Camta1	A	G	4: 151,078,969	S1479P	probably damaging	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Col5a1	T	C	2: 28,024,831	L153P	probably damaging	Het
Crat	C	A	2: 30,407,030	V304L	probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Fau	T	C	19: 6,059,180	V86A	possibly damaging	Het
Garem1	T	G	18: 21,129,991	S589R	probably damaging	Het
Gbp3	T	G	3: 142,564,101		probably null	Het
Gin1	T	A	1: 97,783,016	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,815,416	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,439,293	I517T	probably benign	Het
Hivep2	T	C	10: 14,131,878	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,395,177	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,826,801	L588P	probably damaging	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Itgb1	T	G	8: 128,722,854	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,854,278		probably benign	Het
Map7d1	A	T	4: 126,236,631		probably null	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Med13l	A	G	5: 118,724,050	T353A	probably benign	Het
Mgat4b	T	C	11: 50,231,081	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,442,306	W211R	probably damaging	Het
Morc2a	T	G	11: 3,685,907		probably null	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Ndufa10	A	T	1: 92,463,128	Y233*	probably null	Het
Nek8	C	T	11: 78,171,207	S237N	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 126,391,335	S165P	probably benign	Het
Nsd2	A	G	5: 33,855,536	K404E	possibly damaging	Het
Nsd3	G	T	8: 25,659,854	E352*	probably null	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Olfr983	A	G	9: 40,092,019	*312Q	probably null	Het
Patj	C	A	4: 98,667,648	Q297K	probably damaging	Het
Pelo	A	T	13: 115,088,903	C40*	probably null	Het
Pnpla3	G	A	15: 84,174,478		probably null	Het
Pramel1	C	A	4: 143,397,446	N230K	probably damaging	Het
Psg20	A	C	7: 18,682,507	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,959,821	F44L	probably benign	Het
Sept2	G	A	1: 93,507,050	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,648,931		probably benign	Het
Slc12a8	A	G	16: 33,608,213	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,578,674	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,662,596	F335L	probably benign	Het
Slc26a5	T	C	5: 21,834,347	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,676,205	S144G	probably benign	Het
Spata20	T	A	11: 94,480,609	D643V	probably damaging	Het
Spata24	T	C	18: 35,660,462	K99R	probably damaging	Het
Taar5	A	G	10: 23,971,709	Y335C	probably damaging	Het
Tpr	A	G	1: 150,430,595	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,217,783	Y360*	probably null	Het
Ybx1	C	A	4: 119,282,354	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,297,202	K720E	probably benign	Het
Zfp599	A	G	9: 22,249,742	S376P	probably benign	Het
Zic2	A	G	14: 122,476,541	E289G	probably damaging	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Olfr394

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Olfr394	APN	11	73888249	missense	probably damaging	1.00
IGL01655:Olfr394	APN	11	73887927	missense	probably benign	0.01
IGL02173:Olfr394	APN	11	73888123	missense	possibly damaging	0.72
IGL02308:Olfr394	APN	11	73888295	missense	probably benign	0.09
IGL02656:Olfr394	APN	11	73888039	missense	probably damaging	0.98
R0079:Olfr394	UTSW	11	73887737	missense	probably benign	0.22
R0119:Olfr394	UTSW	11	73887830	missense	probably benign	0.11
R0136:Olfr394	UTSW	11	73887830	missense	probably benign	0.11
R0255:Olfr394	UTSW	11	73887829	missense	probably benign
R0545:Olfr394	UTSW	11	73888017	nonsense	probably null
R0599:Olfr394	UTSW	11	73887904	missense	probably benign	0.19
R0655:Olfr394	UTSW	11	73887805	missense	possibly damaging	0.88
R0657:Olfr394	UTSW	11	73887785	missense	probably benign	0.00
R0657:Olfr394	UTSW	11	73887830	missense	probably benign	0.11
R0720:Olfr394	UTSW	11	73887862	missense	probably benign	0.12
R1112:Olfr394	UTSW	11	73888234	missense	probably damaging	0.99
R2353:Olfr394	UTSW	11	73887834	missense	probably benign	0.02
R2924:Olfr394	UTSW	11	73887511	missense	probably damaging	0.99
R4583:Olfr394	UTSW	11	73887803	missense	probably damaging	1.00
R5231:Olfr394	UTSW	11	73887955	missense	probably damaging	1.00
R5537:Olfr394	UTSW	11	73887697	missense	probably benign	0.02
R5806:Olfr394	UTSW	11	73887547	missense	probably damaging	0.99
R7131:Olfr394	UTSW	11	73887954	nonsense	probably null
R7325:Olfr394	UTSW	11	73888275	missense	probably benign	0.19
R7361:Olfr394	UTSW	11	73888001	missense	probably damaging	1.00
R9446:Olfr394	UTSW	11	73887704	missense	probably benign	0.18
R9711:Olfr394	UTSW	11	73887870	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGTAGATGAAGGGGTTCAGCATGG -3'
(R):5'- TGGAGGTTGCCTGGCACAAATATTC -3'

Sequencing Primer
(F):5'- ATGGCAGACCCCTTTAGACTG -3'
(R):5'- CTAGCATCATGAGTCCTAAGGTCTG -3'

Posted On

2013-04-12