Mutagenetix > Incidental Mutations

Incidental Mutation 'R0218:Olfr513'

33661

Institutional Source

Beutler Lab

Gene Symbol

Olfr513

Ensembl Gene

ENSMUSG00000051200

Gene Name

olfactory receptor 513

Synonyms

MOR195-1, GA_x6K02T2PBJ9-11084889-11085818

MMRRC Submission

038467-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108750973-108756800 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 108755574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 239 (C239*)

Ref Sequence

ENSEMBL: ENSMUSP00000149440 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055146] [ENSMUST00000214670]

AlphaFold

Q8VFZ3

Predicted Effect

probably null
Transcript: ENSMUST00000055146
AA Change: C239*

SMART Domains

Protein: ENSMUSP00000050578
Gene: ENSMUSG00000051200
AA Change: C239*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	307	2.7e-55	PFAM
Pfam:7TM_GPCR_Srsx	33	304	2.3e-6	PFAM
Pfam:7tm_1	39	289	2.8e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214670
AA Change: C239*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	T	19: 11,116,437	Y10*	probably null	Het
Adgrv1	C	T	13: 81,106,898		probably null	Het
Ccdc110	A	G	8: 45,934,724		probably benign	Het
Cd200r1	T	A	16: 44,788,743		probably benign	Het
Cdkl1	A	T	12: 69,790,035	D40E	probably benign	Het
Cdx1	A	G	18: 61,020,364		probably benign	Het
Cenpp	T	A	13: 49,647,632	K103N	possibly damaging	Het
Cep162	A	G	9: 87,211,809	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,353,460	L181*	probably null	Het
Ciapin1	G	T	8: 94,828,310	Q173K	probably damaging	Het
Dgcr2	A	G	16: 17,849,786	C270R	probably damaging	Het
Dlc1	A	G	8: 36,850,229	S431P	probably benign	Het
Efcab12	T	C	6: 115,814,650		probably benign	Het
Ehbp1	A	T	11: 22,231,992		probably benign	Het
Enpp3	A	T	10: 24,776,869	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,740,764	T88A	probably benign	Het
Fancl	A	G	11: 26,471,337	K364E	probably benign	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Galc	A	G	12: 98,222,647	Y402H	probably damaging	Het
Gga2	T	C	7: 121,998,900	N324D	possibly damaging	Het
Gm13103	A	G	4: 143,851,831	I220M	probably damaging	Het
Gm5346	T	G	8: 43,626,440	Q249P	probably benign	Het
Gpr1	T	A	1: 63,183,531	N182Y	probably benign	Het
Hc	G	T	2: 35,028,074	F732L	probably damaging	Het
Heca	T	C	10: 17,915,715	M198V	probably benign	Het
Herc6	C	A	6: 57,619,601	H509N	probably benign	Het
Irf2bpl	A	T	12: 86,882,624	M425K	probably benign	Het
Mael	C	T	1: 166,238,590	G26D	probably damaging	Het
Map1a	A	G	2: 121,305,425	T2241A	probably benign	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Mdga2	A	G	12: 66,655,120	S505P	probably damaging	Het
Mdm1	A	G	10: 118,156,878		probably benign	Het
Mex3b	A	T	7: 82,869,104	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,309,406	E279G	possibly damaging	Het
Nfe2l1	A	T	11: 96,827,613	L32Q	probably damaging	Het
Npas1	C	T	7: 16,461,893	V285I	probably benign	Het
Olfr1499	T	C	19: 13,814,978	N204S	probably benign	Het
Olfr187	C	T	16: 59,036,093	V215I	probably benign	Het
Osr1	A	G	12: 9,579,639	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,523,976	C265S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Simc1	T	C	13: 54,526,604	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,406,230	F56L	probably benign	Het
Smg8	A	G	11: 87,086,122	L211P	probably damaging	Het
Sncaip	A	G	18: 52,907,328	S805G	probably benign	Het
Sra1	T	C	18: 36,676,609		probably benign	Het
Tas2r104	T	G	6: 131,685,092	D218A	probably damaging	Het
Unc45b	A	G	11: 82,911,860		probably benign	Het
Unc79	A	G	12: 103,108,781		probably null	Het
Washc2	T	A	6: 116,248,046	L785*	probably null	Het
Zfp30	A	G	7: 29,793,638	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,912,628	T334A	probably benign	Het

Other mutations in Olfr513

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02491:Olfr513	APN	7	108755114	missense	probably damaging	1.00
IGL03086:Olfr513	APN	7	108755796	utr 3 prime	probably benign
FR4340:Olfr513	UTSW	7	108754954	small insertion	probably benign
IGL02799:Olfr513	UTSW	7	108755623	missense	probably benign
R1103:Olfr513	UTSW	7	108754883	missense	possibly damaging	0.92
R1251:Olfr513	UTSW	7	108754907	missense	probably damaging	0.99
R1450:Olfr513	UTSW	7	108755512	missense	probably damaging	1.00
R1582:Olfr513	UTSW	7	108755110	missense	probably benign	0.04
R1608:Olfr513	UTSW	7	108755102	missense	probably damaging	0.99
R1726:Olfr513	UTSW	7	108755008	missense	probably benign	0.00
R1880:Olfr513	UTSW	7	108755128	missense	probably damaging	1.00
R1881:Olfr513	UTSW	7	108755128	missense	probably damaging	1.00
R2136:Olfr513	UTSW	7	108755223	missense	possibly damaging	0.58
R2216:Olfr513	UTSW	7	108755612	missense	probably damaging	1.00
R4006:Olfr513	UTSW	7	108755261	missense	probably damaging	1.00
R4603:Olfr513	UTSW	7	108755627	missense	probably damaging	1.00
R4881:Olfr513	UTSW	7	108755405	missense	probably damaging	1.00
R5132:Olfr513	UTSW	7	108755270	missense	probably damaging	1.00
R5426:Olfr513	UTSW	7	108755717	missense	possibly damaging	0.94
R5679:Olfr513	UTSW	7	108754996	missense	probably damaging	0.97
R5848:Olfr513	UTSW	7	108755574	nonsense	probably null
R5911:Olfr513	UTSW	7	108755675	missense	probably benign	0.36
R6474:Olfr513	UTSW	7	108755029	missense	probably damaging	1.00
R7016:Olfr513	UTSW	7	108755711	missense	probably damaging	1.00
R7783:Olfr513	UTSW	7	108755569	missense	probably damaging	1.00
R8113:Olfr513	UTSW	7	108755231	missense	probably damaging	1.00
R8385:Olfr513	UTSW	7	108755304	nonsense	probably null
R9429:Olfr513	UTSW	7	108755205	missense	probably damaging	0.98
Z1088:Olfr513	UTSW	7	108755104	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCTGCAACTCCAATGTGATCCACC -3'
(R):5'- AGTGCTGCATCCTAGTATCCTGCTC -3'

Sequencing Primer
(F):5'- AATGTGATCCACCACTTCTACTGTG -3'
(R):5'- ATCCTAGTATCCTGCTCACTATGAAG -3'

Posted On

2013-05-09