Mutagenetix > Incidental Mutations

Incidental Mutation 'R1437:Olfr993'

161272

Institutional Source

Beutler Lab

Gene Symbol

Olfr993

Ensembl Gene

ENSMUSG00000075220

Gene Name

olfactory receptor 993

Synonyms

GA_x6K02T2Q125-46891524-46890580, MOR203-2

MMRRC Submission

039492-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85413933-85414877 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85414874 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 2 (I2V)

Ref Sequence

ENSEMBL: ENSMUSP00000097510 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099926]

Predicted Effect

probably benign
Transcript: ENSMUST00000099926
AA Change: I2V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: I2V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	3e-51	PFAM
Pfam:7TM_GPCR_Srsx	35	303	1.3e-7	PFAM
Pfam:7tm_1	41	290	2.2e-21	PFAM

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	C	A	3: 36,942,429	H1097N	possibly damaging	Het
Abcb1b	T	A	5: 8,821,436	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,874,762	S1022P	probably damaging	Het
Abcc8	A	G	7: 46,179,813	I46T	probably damaging	Het
Add3	A	G	19: 53,233,678	R275G	probably damaging	Het
Akap1	C	A	11: 88,844,751	G362*	probably null	Het
Arhgef4	A	G	1: 34,723,945	T761A	unknown	Het
Asap1	A	T	15: 64,120,107	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,250,616	P741H	probably damaging	Het
Atxn10	T	C	15: 85,359,474	I46T	possibly damaging	Het
BC049715	C	A	6: 136,840,092	A110E	probably damaging	Het
Btbd7	T	A	12: 102,788,090	T806S	possibly damaging	Het
Cdk4	C	A	10: 127,064,689	P108H	probably damaging	Het
Cep290	A	G	10: 100,572,101	T2391A	probably benign	Het
Col6a3	G	T	1: 90,801,376	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,655	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,450,213	Q356K	probably benign	Het
Ddx21	A	G	10: 62,598,590	M130T	unknown	Het
Epha5	T	G	5: 84,233,696	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,712,571		probably benign	Het
Fads2	A	T	19: 10,091,829	L77Q	probably benign	Het
Fbn2	A	T	18: 58,053,659	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 141,167,854	H43Y	probably benign	Het
Fry	A	G	5: 150,310,425	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,988,542	S209A	probably damaging	Het
Hey2	T	C	10: 30,833,849	T303A	probably benign	Het
Hivep1	T	A	13: 42,157,140	M952K	probably benign	Het
Hrasls	C	A	16: 29,228,170	A147E	possibly damaging	Het
Hydin	C	T	8: 110,581,985	Q3968*	probably null	Het
Jup	T	C	11: 100,383,576	E96G	probably benign	Het
Kcnn1	A	G	8: 70,844,551	I504T	probably benign	Het
Klk1b9	T	C	7: 43,979,690	V174A	probably damaging	Het
Lama3	G	C	18: 12,549,227	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 121,138,896	S569P	probably benign	Het
Lrfn2	T	C	17: 49,071,225	S445P	probably damaging	Het
Lrp3	C	A	7: 35,213,170	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,481,702	L638P	probably damaging	Het
Mief2	C	T	11: 60,730,943	T113M	probably benign	Het
Mrps2	T	C	2: 28,468,887	F76S	probably damaging	Het
Naca	A	G	10: 128,042,179		probably benign	Het
Ndst4	C	A	3: 125,561,450	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,217,141		probably null	Het
Nr5a1	T	A	2: 38,710,673	T29S	probably benign	Het
Olfr1111	C	T	2: 87,149,771	V297M	possibly damaging	Het
Pald1	A	G	10: 61,341,285	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,909,243	A59S	probably damaging	Het
Pde4a	T	C	9: 21,192,592		probably null	Het
Pkd1	T	A	17: 24,595,132	S4159T	probably damaging	Het
Plch1	C	A	3: 63,697,533	R1641L	probably benign	Het
Plec	G	T	15: 76,189,281	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,860,402	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,891,830	V504A	probably damaging	Het
Prepl	G	A	17: 85,088,357	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,030,888	K226E	probably damaging	Het
Ror1	T	A	4: 100,412,109	F381L	probably benign	Het
Sbsn	C	T	7: 30,753,053	Q498*	probably null	Het
Scgb2b19	T	C	7: 33,278,555	I106V	probably benign	Het
Sf3a2	G	A	10: 80,804,206		probably benign	Het
Sis	T	C	3: 72,934,142	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,558,575	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,315,986	T20S	probably damaging	Het
Stt3b	T	A	9: 115,254,927	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,372,055	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,001,031	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,291,211	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852	Q97*	probably null	Het
Vsig10	A	G	5: 117,351,570	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,878,133	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,991,620		probably null	Het

Other mutations in Olfr993

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02428:Olfr993	APN	2	85414193	missense	probably benign	0.05
IGL03209:Olfr993	APN	2	85414379	missense	probably benign	0.05
BB001:Olfr993	UTSW	2	85414219	missense	probably benign	0.06
BB011:Olfr993	UTSW	2	85414219	missense	probably benign	0.06
R0591:Olfr993	UTSW	2	85414690	missense	possibly damaging	0.95
R1836:Olfr993	UTSW	2	85414405	missense	probably benign	0.36
R2084:Olfr993	UTSW	2	85414615	missense	probably benign	0.01
R2902:Olfr993	UTSW	2	85414052	missense	possibly damaging	0.79
R2910:Olfr993	UTSW	2	85414351	missense	probably damaging	1.00
R3961:Olfr993	UTSW	2	85414872	missense	possibly damaging	0.69
R4542:Olfr993	UTSW	2	85413943	missense	probably benign
R4635:Olfr993	UTSW	2	85414864	missense	probably damaging	1.00
R5464:Olfr993	UTSW	2	85414713	frame shift	probably null
R5980:Olfr993	UTSW	2	85414165	missense	probably damaging	1.00
R6139:Olfr993	UTSW	2	85414346	missense	probably damaging	1.00
R6356:Olfr993	UTSW	2	85414687	missense	probably damaging	1.00
R6619:Olfr993	UTSW	2	85414081	missense	probably benign	0.05
R6672:Olfr993	UTSW	2	85414604	missense	possibly damaging	0.87
R7326:Olfr993	UTSW	2	85414444	missense	probably damaging	0.99
R7328:Olfr993	UTSW	2	85414324	missense	probably benign	0.32
R7569:Olfr993	UTSW	2	85414135	missense	probably damaging	1.00
R7924:Olfr993	UTSW	2	85414219	missense	probably benign	0.06
Z1176:Olfr993	UTSW	2	85414663	missense	probably damaging	1.00
Z1176:Olfr993	UTSW	2	85414685	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ACAGTCACAAGTAGCAAAGATTGCGT -3'
(R):5'- CTATTGGtctgtgcttctatctcctcct -3'

Sequencing Primer
(F):5'- ACAAAGGTTTGTAGCATCTTGG -3'
(R):5'- aaatgattttctggtagagtctgtg -3'

Posted On

2014-03-14