Mutagenetix > Incidental Mutations

Incidental Mutation 'R1490:Olfr392'

163663

Institutional Source

Beutler Lab

Gene Symbol

Olfr392

Ensembl Gene

ENSMUSG00000061984

Gene Name

olfactory receptor 392

Synonyms

GA_x6K02T2P1NL-3966976-3966038, MOR135-9

MMRRC Submission

039542-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73811740-73817049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73814371 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

Ref Sequence

ENSEMBL: ENSMUSP00000123649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118463] [ENSMUST00000144724]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118463
AA Change: V237A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113118
Gene: ENSMUSG00000061984
AA Change: V237A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	308	1.5e-58	PFAM
Pfam:7TM_GPCR_Srsx	35	305	2.6e-6	PFAM
Pfam:7tm_1	41	290	1.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144724
AA Change: V237A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123649
Gene: ENSMUSG00000061984
AA Change: V237A

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	116	2e-12	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025F22Rik	A	G	19: 11,141,538	I69T	probably benign	Het
Aldh1l2	G	A	10: 83,520,370	T52I	probably damaging	Het
Arhgef28	G	A	13: 97,978,444	R633W	probably damaging	Het
Atg9a	T	C	1: 75,185,745	N507S	possibly damaging	Het
Bsn	A	G	9: 108,113,994	S1520P	probably benign	Het
Cacul1	G	T	19: 60,580,399	A107E	probably damaging	Het
Cd74	A	G	18: 60,811,366	D216G	probably damaging	Het
Cdh16	A	T	8: 104,622,070	W109R	probably damaging	Het
Cdip1	C	T	16: 4,768,911	V100I	probably damaging	Het
Ceacam3	A	G	7: 17,163,146	D679G	probably damaging	Het
Comp	A	G	8: 70,373,913	D46G	possibly damaging	Het
Dlx3	T	C	11: 95,120,604	Y95H	probably benign	Het
Dmrta2	T	C	4: 109,979,875	S5P	unknown	Het
E130308A19Rik	A	G	4: 59,719,746	Y426C	probably damaging	Het
Entpd3	A	G	9: 120,554,159	S87G	probably benign	Het
Eps8l1	A	G	7: 4,470,889	R232G	probably damaging	Het
Gart	A	T	16: 91,624,344	V812D	probably damaging	Het
Gm10153	C	T	7: 142,190,142	C83Y	unknown	Het
Gpd2	T	C	2: 57,355,475	V394A	probably damaging	Het
Hpcal1	A	T	12: 17,786,224	E18D	probably benign	Het
Mdga2	T	C	12: 66,797,756	D156G	probably benign	Het
Mks1	A	G	11: 87,862,769	K510E	probably benign	Het
Mtmr4	G	A	11: 87,612,225	R1035Q	probably damaging	Het
Myh6	T	A	14: 54,962,718	K235*	probably null	Het
Nedd1	A	G	10: 92,700,798	F214S	probably damaging	Het
Olfr166	T	C	16: 19,486,922	M28T	probably benign	Het
Olfr672	A	G	7: 104,996,493	I137T	possibly damaging	Het
Olfr98	A	G	17: 37,262,842	M274T	probably benign	Het
Pfkfb2	A	C	1: 130,697,889		probably null	Het
Pfkfb4	T	C	9: 109,027,620	L398P	probably damaging	Het
Pfn3	T	G	13: 55,414,919	D83A	probably damaging	Het
Pi4ka	C	A	16: 17,386,268	W54L	probably damaging	Het
Ppp3r1	A	G	11: 17,198,275	D161G	probably benign	Het
Prrc2a	A	G	17: 35,153,254	S1757P	probably benign	Het
Samd7	A	G	3: 30,758,353	E314G	probably benign	Het
Slc17a4	A	G	13: 23,904,753	I217T	probably benign	Het
Slc22a1	A	T	17: 12,662,893		probably null	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Sos1	A	T	17: 80,413,675	H905Q	probably benign	Het
Thada	G	A	17: 84,446,601	T314I	possibly damaging	Het
Tirap	ACTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTG	9: 35,189,066		probably benign	Het
Tlr11	A	C	14: 50,363,176	H873P	probably benign	Het
Tlr4	A	T	4: 66,839,374	T135S	possibly damaging	Het
Tmem116	T	C	5: 121,495,111	S183P	probably damaging	Het
Tubgcp3	A	T	8: 12,639,550	I572K	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	T	1: 188,359,841	T523I	probably benign	Het
Usp40	G	A	1: 87,988,965	Q364*	probably null	Het
Vmn1r61	T	C	7: 5,611,243	Q24R	probably benign	Het
Wdfy4	C	A	14: 33,152,538		probably null	Het
Zfp458	G	A	13: 67,257,509	P286S	probably damaging	Het
Zfp68	A	T	5: 138,606,829	C373S	probably benign	Het
Zfp768	T	A	7: 127,343,631	I442F	probably damaging	Het
Zfp990	A	G	4: 145,537,283	R284G	probably benign	Het

Other mutations in Olfr392

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Olfr392	APN	11	73814786	missense	probably damaging	0.97
IGL02976:Olfr392	APN	11	73814317	missense	probably damaging	0.98
IGL03344:Olfr392	APN	11	73814177	missense	probably benign	0.21
R0196:Olfr392	UTSW	11	73814905	missense	probably damaging	0.99
R0347:Olfr392	UTSW	11	73814311	missense	probably damaging	0.98
R0594:Olfr392	UTSW	11	73814617	missense	probably benign	0.12
R0940:Olfr392	UTSW	11	73814224	missense	probably damaging	1.00
R1233:Olfr392	UTSW	11	73814350	missense	probably damaging	1.00
R1300:Olfr392	UTSW	11	73814246	missense	probably benign	0.13
R3111:Olfr392	UTSW	11	73814186	missense	probably benign
R4827:Olfr392	UTSW	11	73814721	nonsense	probably null
R4852:Olfr392	UTSW	11	73814248	missense	probably benign	0.11
R4992:Olfr392	UTSW	11	73814320	missense	probably damaging	1.00
R6193:Olfr392	UTSW	11	73814824	missense	probably benign
R7201:Olfr392	UTSW	11	73814341	missense	probably benign	0.19
R7310:Olfr392	UTSW	11	73814286	missense	probably damaging	0.98
X0021:Olfr392	UTSW	11	73814305	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTTGAGCATGGGAGTCACCAATG -3'
(R):5'- AGCATCATGAGCACCAAGCTCTG -3'

Sequencing Primer
(F):5'- TTGTCCCATAGAACAGAGACAC -3'
(R):5'- GGATGTTGACTATATTCCATGCC -3'

Posted On

2014-03-28