Mutagenetix > Incidental Mutation

Incidental Mutation 'R0599:Olfr394'

55241

Institutional Source

Beutler Lab

Gene Symbol

Olfr394

Ensembl Gene

ENSMUSG00000056921

Gene Name

olfactory receptor 394

Synonyms

MOR135-8, GA_x6K02T2P1NL-4043306-4042374

MMRRC Submission

038788-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0599 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73883337-73890771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73887904 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 156 (M156K)

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: M156K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: M156K

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: M156K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000216608
AA Change: M156K

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.0%

Validation Efficiency

98% (80/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,552,245	L978P	probably damaging	Het
Abcb1a	C	T	5: 8,698,539	T290M	probably benign	Het
Abcd3	A	T	3: 121,765,093	F585I	probably damaging	Het
Acan	A	G	7: 79,111,290		probably benign	Het
Anxa6	T	C	11: 54,979,466	D667G	possibly damaging	Het
Ap3m2	G	T	8: 22,793,112	A208D	possibly damaging	Het
Arhgap17	A	T	7: 123,303,790		probably benign	Het
Bptf	A	G	11: 107,068,382	V1838A	probably damaging	Het
Brip1	T	A	11: 86,152,737	M334L	probably benign	Het
Btbd10	C	T	7: 113,335,309		probably benign	Het
Btbd11	G	A	10: 85,658,336	G1106D	probably damaging	Het
Cdh7	C	A	1: 110,052,966	T208K	probably damaging	Het
Cnga4	A	G	7: 105,405,818	Y100C	probably damaging	Het
Dnah10	G	A	5: 124,800,953	V2644M	probably damaging	Het
Dnah9	T	C	11: 65,965,689	D2882G	probably damaging	Het
Eapp	T	A	12: 54,685,962	K117M	probably damaging	Het
Eml3	T	C	19: 8,939,063	V673A	probably benign	Het
Ephb4	G	A	5: 137,369,855	C754Y	probably damaging	Het
Eps8l1	A	G	7: 4,477,957	D33G	possibly damaging	Het
Farsa	A	G	8: 84,867,583	K321E	probably damaging	Het
Fry	G	A	5: 150,437,159	R2090Q	probably damaging	Het
Gm10283	A	G	8: 60,501,224		probably benign	Het
Grm4	A	G	17: 27,431,490	I844T	probably benign	Het
Gtf2h3	A	G	5: 124,588,628	D124G	probably benign	Het
Gulo	A	T	14: 65,990,441	D347E	probably damaging	Het
Hmcn1	A	G	1: 150,609,801	F4350S	possibly damaging	Het
Hspg2	A	G	4: 137,512,401	D473G	probably damaging	Het
Il17ra	T	A	6: 120,481,505	I539N	probably damaging	Het
Insrr	A	G	3: 87,813,133	E1026G	probably damaging	Het
Itga2	A	T	13: 114,856,650		probably benign	Het
Kdm1b	A	T	13: 47,058,810	D190V	possibly damaging	Het
Lima1	A	T	15: 99,802,159	N146K	probably damaging	Het
Mettl7a3	A	T	15: 100,335,383	N152Y	possibly damaging	Het
Mnt	G	T	11: 74,842,296	V85L	probably benign	Het
Mon2	T	A	10: 123,026,065		probably benign	Het
Mtf1	T	C	4: 124,820,201		probably benign	Het
Mylk4	T	C	13: 32,712,754		probably null	Het
Myo18b	A	C	5: 112,865,750	L780R	probably damaging	Het
Myo1e	A	G	9: 70,376,660		probably benign	Het
Obscn	A	G	11: 59,073,696	S705P	probably damaging	Het
Ocrl	A	T	X: 47,936,086		probably benign	Het
Olfr1260	T	C	2: 89,978,201	F141S	probably benign	Het
Olfr599	A	G	7: 103,338,186	N44S	probably damaging	Het
Olfr639	A	T	7: 104,012,188	C171*	probably null	Het
Otof	T	A	5: 30,370,705	K1931N	probably damaging	Het
Plcxd3	A	G	15: 4,516,867	S118G	probably damaging	Het
Plcz1	T	A	6: 140,028,542	Q58L	probably benign	Het
Proser1	C	A	3: 53,479,064	P789Q	probably benign	Het
Rassf4	T	C	6: 116,645,936	E38G	probably damaging	Het
Ros1	A	T	10: 52,123,300	Y1164N	probably damaging	Het
Rpgrip1l	A	G	8: 91,305,000	I83T	probably damaging	Het
Scn9a	T	G	2: 66,526,799	K1053Q	probably damaging	Het
Sgsm1	G	T	5: 113,245,028	Q1087K	probably damaging	Het
Slc16a10	T	C	10: 40,141,918	D40G	probably benign	Het
Slc27a6	A	G	18: 58,556,813	D117G	probably damaging	Het
Slc2a9	T	A	5: 38,480,144		probably benign	Het
Slc4a1	A	G	11: 102,357,915		probably benign	Het
Smarca1	T	A	X: 47,823,426	Q982L	probably benign	Het
Sp100	T	A	1: 85,681,110	I320N	possibly damaging	Het
Stx8	A	T	11: 68,109,362	R209S	probably null	Het
Sulf2	T	C	2: 166,083,879	T453A	possibly damaging	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,097,960		probably null	Het
Tenm2	T	A	11: 36,024,780	I1976F	possibly damaging	Het
Tenm3	G	A	8: 48,277,710	S1341L	probably damaging	Het
Tmem130	C	T	5: 144,737,809	V369M	probably damaging	Het
Tmem200c	A	G	17: 68,840,511	K30E	probably damaging	Het
Tmem225	A	G	9: 40,149,747	I117V	possibly damaging	Het
Top2a	A	G	11: 99,001,417	I1073T	probably damaging	Het
Trps1	A	C	15: 50,831,860	Y296*	probably null	Het
Tubg1	T	C	11: 101,125,336	M377T	probably benign	Het
Vmn1r35	G	A	6: 66,679,513	H58Y	probably benign	Het
Vmn1r56	G	A	7: 5,196,430	H63Y	probably benign	Het
Vmn1r75	T	C	7: 11,881,262		probably null	Het
Vnn3	T	C	10: 23,865,705	S303P	possibly damaging	Het
Wdr49	C	T	3: 75,431,076		probably null	Het
Wdr49	T	C	3: 75,449,890		probably null	Het
Zcchc6	A	G	13: 59,809,487	V7A	probably damaging	Het
Zzef1	T	C	11: 72,913,178	L2582P	probably damaging	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	73887785	missense	probably benign	0.00
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
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'- GTGGATGCCTTGAGTAGATGGAACC -3'
(R):5'- TGCAGAATATGCAGAGCCAGGACC -3'

Sequencing Primer
(F):5'- CCTTGCATAGGATATAACAATGAGC -3'
(R):5'- GAGGTTGCCTGGCACAAATATTC -3'

Posted On

2013-07-11