Mutagenetix > Incidental Mutations

Incidental Mutation 'R1482:Olfr699'

164447

Institutional Source

Beutler Lab

Gene Symbol

Olfr699

Ensembl Gene

ENSMUSG00000096714

Gene Name

olfactory receptor 699

Synonyms

MOR283-10P, GA_x6K02T2PBJ9-9168355-9167405

MMRRC Submission

039535-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106787963-106793198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106790333 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 223 (F223L)

Ref Sequence

ENSEMBL: ENSMUSP00000149112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065024] [ENSMUST00000215952] [ENSMUST00000216307]

Predicted Effect

probably benign
Transcript: ENSMUST00000065024
AA Change: F223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: F223L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	1.3e-46	PFAM
Pfam:7TM_GPCR_Srsx	35	303	2.1e-5	PFAM
Pfam:7tm_1	41	290	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215952
AA Change: F223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000216307
AA Change: F223L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192	D260N	probably benign	Het
AI314180	T	C	4: 58,820,163	K1217E	possibly damaging	Het
Ankef1	A	T	2: 136,550,158	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Aqp6	A	T	15: 99,604,307	*294C	probably null	Het
Baz2a	T	A	10: 128,109,008	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,553,725	D47G	probably damaging	Het
Csf2	T	C	11: 54,248,563	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874	G1562D	probably damaging	Het
Exoc3l2	C	A	7: 19,495,359	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984	R274*	probably null	Het
Fgd4	G	T	16: 16,484,473	Q73K	probably benign	Het
Fth1	A	G	19: 9,984,853	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841	T633I	probably benign	Het
Nepn	A	T	10: 52,400,416	T22S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972	L342M	probably damaging	Het
Olfr691	T	A	7: 105,337,256	R153S	probably damaging	Het
Olfr775	T	A	10: 129,251,143	I203N	possibly damaging	Het
Olfr872	G	A	9: 20,260,724	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633		probably null	Het
Pard3b	A	T	1: 62,166,367	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448	D307E	possibly damaging	Het
Zfp687	A	G	3: 95,007,533	F1219S	probably damaging	Het
Zfpm2	T	A	15: 41,099,291	D248E	probably damaging	Het

Other mutations in Olfr699

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00163:Olfr699	APN	7	106790589	missense	probably benign	0.12
IGL02093:Olfr699	APN	7	106790823	missense	probably benign	0.12
IGL02404:Olfr699	APN	7	106790359	missense	probably damaging	1.00
IGL03214:Olfr699	APN	7	106790345	missense	probably benign
IGL03230:Olfr699	APN	7	106790704	missense	probably damaging	1.00
R0194:Olfr699	UTSW	7	106790823	missense	probably benign	0.12
R0523:Olfr699	UTSW	7	106790326	missense	probably damaging	1.00
R1132:Olfr699	UTSW	7	106790551	missense	possibly damaging	0.94
R1373:Olfr699	UTSW	7	106790756	missense	probably benign	0.01
R1498:Olfr699	UTSW	7	106790416	missense	possibly damaging	0.78
R1500:Olfr699	UTSW	7	106790821	missense	probably damaging	1.00
R2656:Olfr699	UTSW	7	106790513	missense	probably damaging	0.98
R4163:Olfr699	UTSW	7	106790279	missense	probably damaging	1.00
R4638:Olfr699	UTSW	7	106790998	start codon destroyed	probably null	1.00
R5104:Olfr699	UTSW	7	106790332	missense	possibly damaging	0.81
R6216:Olfr699	UTSW	7	106790458	missense	probably benign	0.23
R6976:Olfr699	UTSW	7	106790227	missense	probably damaging	0.99
R7129:Olfr699	UTSW	7	106790483	missense	probably benign	0.00
R7130:Olfr699	UTSW	7	106790182	missense	probably benign	0.35
R8104:Olfr699	UTSW	7	106791130	start gained	probably benign
R8104:Olfr699	UTSW	7	106791131	start gained	probably benign
Z1177:Olfr699	UTSW	7	106790270	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCCCAGTGACCTCCTTATTC -3'
(R):5'- TGCAATATCCCTTCTGCAAATCCCG -3'

Sequencing Primer
(F):5'- TTAGAGCTGGGGTCACGAC -3'
(R):5'- TTCTGCAAATCCCGTAAAATCAG -3'

Posted On

2014-03-28