Mutagenetix > Incidental Mutations

Incidental Mutation 'R1481:Olfr713'

164371

Institutional Source

Beutler Lab

Gene Symbol

Olfr713

Ensembl Gene

ENSMUSG00000073898

Gene Name

olfactory receptor 713

Synonyms

GA_x6K02T2PBJ9-9415724-9416677, MOR263-1, P3

MMRRC Submission

039534-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1481 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107031174-107040994 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 107036149 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 5 (L5R)

Ref Sequence

ENSEMBL: ENSMUSP00000095743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098139] [ENSMUST00000213623]

Predicted Effect

probably benign
Transcript: ENSMUST00000098139
AA Change: L5R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000095743
Gene: ENSMUSG00000073898
AA Change: L5R

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.4e-57	PFAM
Pfam:7tm_1	49	298	2e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213623

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (71/71)

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]
PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal olfactory sensory neuron projections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 37,008,434	V3365A	probably damaging	Het
Arhgef5	A	G	6: 43,274,634	H773R	probably damaging	Het
Bmp3	G	A	5: 98,872,470	V251M	probably damaging	Het
Ccdc175	C	A	12: 72,101,948		probably benign	Het
Ccdc178	C	T	18: 22,105,621	G313D	probably benign	Het
Cd300ld2	T	A	11: 115,012,633	I129F	probably benign	Het
Cep170	T	C	1: 176,782,385	Q120R	possibly damaging	Het
Ckb	T	C	12: 111,671,262	H145R	probably benign	Het
Cntnap5a	T	A	1: 116,117,663	N336K	probably damaging	Het
Coil	T	A	11: 88,974,060	C38S	possibly damaging	Het
Cps1	T	C	1: 67,143,882	V133A	probably damaging	Het
Cspg4	A	G	9: 56,887,810	E943G	probably damaging	Het
Cyp2c54	C	T	19: 40,047,588	D293N	probably benign	Het
Cyp2f2	T	C	7: 27,121,877	S72P	probably benign	Het
Dip2c	G	A	13: 9,551,866		probably null	Het
Dock6	T	C	9: 21,820,622	T1158A	probably benign	Het
Dscaml1	G	A	9: 45,672,643	V469I	probably benign	Het
Efcab14	A	G	4: 115,756,517	T221A	probably benign	Het
Ehbp1	T	C	11: 22,006,782	*1207W	probably null	Het
Eln	T	C	5: 134,706,572	K786E	probably damaging	Het
Fyb	C	T	15: 6,619,647	P385S	probably benign	Het
Galr1	A	G	18: 82,405,741	I137T	possibly damaging	Het
Gcm1	A	T	9: 78,059,717	K73*	probably null	Het
Gemin5	T	C	11: 58,141,654	N775D	probably damaging	Het
Gli3	C	T	13: 15,613,850	H147Y	probably damaging	Het
Gm10754	G	T	10: 97,682,227		probably benign	Het
Gpr37	T	C	6: 25,669,138	D569G	probably damaging	Het
Grina	T	A	15: 76,249,089	Y286N	probably damaging	Het
Gtf3c1	C	A	7: 125,693,138		probably null	Het
Kcnc4	C	T	3: 107,448,218	V305M	probably benign	Het
Kntc1	T	C	5: 123,778,275	F724L	probably benign	Het
Kpnb1	T	C	11: 97,178,310	Y249C	probably damaging	Het
Krt6b	T	C	15: 101,678,374	T269A	probably benign	Het
Lamc1	T	C	1: 153,221,634	K1555E	probably damaging	Het
Maneal	T	C	4: 124,861,857	Y104C	probably damaging	Het
Map1b	T	C	13: 99,431,171	T1681A	unknown	Het
Mettl17	T	C	14: 51,890,703	L272P	probably benign	Het
Mib2	T	A	4: 155,656,999	S357C	probably benign	Het
Mmp19	C	A	10: 128,798,178	T316K	possibly damaging	Het
Mroh9	C	T	1: 163,026,509	G774E	probably damaging	Het
Myh1	T	C	11: 67,205,499		probably benign	Het
Ncor2	C	A	5: 125,027,138	E963*	probably null	Het
Nol6	T	A	4: 41,123,596	T51S	probably benign	Het
Nsun3	A	T	16: 62,735,369	C265S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Nutm2	T	A	13: 50,469,481	N71K	probably damaging	Het
Olfr498	C	T	7: 108,465,960	T212I	probably benign	Het
Orc3	T	A	4: 34,607,228	E34V	possibly damaging	Het
Pcdhb13	T	A	18: 37,442,836	L89Q	probably damaging	Het
Polr3a	A	T	14: 24,452,548	V1241E	probably null	Het
Prpf39	C	T	12: 65,053,314	P135S	probably damaging	Het
Psrc1	T	C	3: 108,384,993	V34A	probably benign	Het
Rab27a	G	A	9: 73,082,402	V52M	probably benign	Het
Rassf9	A	G	10: 102,546,034	T424A	probably benign	Het
Ripor3	G	T	2: 168,000,377	R61S	possibly damaging	Het
Ryr3	C	T	2: 112,636,522		probably benign	Het
Samd4b	C	T	7: 28,414,010	G177R	probably damaging	Het
Setbp1	C	T	18: 78,783,301	V1366M	probably benign	Het
Smad1	G	A	8: 79,343,730	A393V	probably benign	Het
Tctn2	T	C	5: 124,607,763		noncoding transcript	Het
Tmem45a	A	T	16: 56,811,602	F218I	possibly damaging	Het
Tpte	A	T	8: 22,355,471	R512S	probably damaging	Het
Trim37	T	A	11: 87,129,759	L22*	probably null	Het
Ttc6	A	G	12: 57,737,130	N1792D	probably damaging	Het
Ttn	A	G	2: 76,945,616	M1694T	probably damaging	Het
Vmn1r181	T	A	7: 23,984,712	W201R	probably damaging	Het
Wdr74	C	T	19: 8,738,228	L198F	possibly damaging	Het
Zfp560	T	C	9: 20,348,790	T259A	probably benign	Het

Other mutations in Olfr713

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Olfr713	APN	7	107036847	missense	probably damaging	0.99
IGL01630:Olfr713	APN	7	107037111	utr 3 prime	probably benign
IGL02539:Olfr713	APN	7	107036434	missense	probably damaging	1.00
IGL02727:Olfr713	APN	7	107036695	missense	probably damaging	1.00
IGL03336:Olfr713	APN	7	107036335	missense	probably damaging	1.00
R0501:Olfr713	UTSW	7	107036232	missense	probably benign
R0684:Olfr713	UTSW	7	107036682	missense	probably damaging	1.00
R0909:Olfr713	UTSW	7	107036194	missense	probably benign	0.19
R1958:Olfr713	UTSW	7	107036271	missense	possibly damaging	0.77
R1965:Olfr713	UTSW	7	107036358	missense	probably damaging	1.00
R2119:Olfr713	UTSW	7	107036731	missense	probably damaging	1.00
R2149:Olfr713	UTSW	7	107036338	missense	possibly damaging	0.68
R3012:Olfr713	UTSW	7	107036362	missense	possibly damaging	0.79
R3428:Olfr713	UTSW	7	107036716	missense	probably benign
R4425:Olfr713	UTSW	7	107036491	missense	probably damaging	1.00
R4795:Olfr713	UTSW	7	107036914	missense	probably benign	0.00
R4796:Olfr713	UTSW	7	107036914	missense	probably benign	0.00
R4908:Olfr713	UTSW	7	107036157	start codon destroyed	probably benign	0.02
R4945:Olfr713	UTSW	7	107036319	missense	probably benign	0.00
R5122:Olfr713	UTSW	7	107036848	nonsense	probably null
R5721:Olfr713	UTSW	7	107036358	missense	probably damaging	1.00
R5979:Olfr713	UTSW	7	107036336	missense	probably damaging	1.00
R6739:Olfr713	UTSW	7	107036811	missense	probably damaging	1.00
R6981:Olfr713	UTSW	7	107036749	missense	possibly damaging	0.77
R7197:Olfr713	UTSW	7	107036157	missense	probably benign	0.03
R7228:Olfr713	UTSW	7	107037100	missense	probably benign
R7444:Olfr713	UTSW	7	107036347	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTACGCTGGCTTTATGACTTCGC -3'
(R):5'- CCCCAACATTTTGGGCACAATGAC -3'

Sequencing Primer
(F):5'- CCATTAGATATGACCGTGCCG -3'
(R):5'- AATACATGGGGCTTTGCAGC -3'

Posted On

2014-03-28