Mutagenetix > Incidental Mutations

Incidental Mutation 'R7130:Olfr699'

552579

Institutional Source

Beutler Lab

Gene Symbol

Olfr699

Ensembl Gene

ENSMUSG00000096714

Gene Name

olfactory receptor 699

Synonyms

MOR283-10P, GA_x6K02T2PBJ9-9168355-9167405

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7130 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106787963-106793198 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106790182 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 273 (L273P)

Ref Sequence

ENSEMBL: ENSMUSP00000150923 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000065024
AA Change: L273P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: L273P

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: L273P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000216307
AA Change: L273P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,902	T735I	possibly damaging	Het
Adcy10	T	A	1: 165,504,047	V83E	probably damaging	Het
Adcy6	A	G	15: 98,597,229	Y701H	probably benign	Het
Apbb1	G	A	7: 105,565,331	H518Y	probably damaging	Het
Arhgap20	T	A	9: 51,849,747	V966E	probably damaging	Het
Bbx	T	A	16: 50,210,442		probably null	Het
Bpifb9b	T	A	2: 154,311,672	N219K	probably damaging	Het
Btbd11	A	C	10: 85,387,555	D76A	unknown	Het
Cdk19	A	G	10: 40,479,765	T490A	unknown	Het
Cyb5r1	T	G	1: 134,408,021		probably benign	Het
Dnah14	C	T	1: 181,745,958	Q2945*	probably null	Het
Eif5b	A	G	1: 38,041,776	T733A	probably damaging	Het
Esyt3	T	A	9: 99,318,170	D657V	probably benign	Het
Fat4	T	A	3: 38,980,787	F2863I	probably damaging	Het
Fbxw14	T	A	9: 109,271,282	I435L	probably benign	Het
Fus	G	A	7: 127,974,413	G253S	unknown	Het
Gdi2	T	C	13: 3,548,891	V25A	probably benign	Het
Gm14025	A	T	2: 129,039,181	V275D		Het
Gm28729	T	G	9: 96,519,404	R110S	probably benign	Het
Gm5286	T	C	3: 94,198,527	W51R	probably damaging	Het
Gm9992	T	C	17: 7,370,425	T304A	probably benign	Het
Gucd1	A	G	10: 75,512,117	L28P	possibly damaging	Het
Hmgxb3	C	T	18: 61,132,378	S1176N	probably benign	Het
Islr2	T	C	9: 58,198,292	T606A	probably damaging	Het
Kcnf1	T	C	12: 17,175,809	D137G	probably benign	Het
Klkb1	T	A	8: 45,275,538	T395S	probably benign	Het
Morc2b	T	A	17: 33,136,288	S837C	possibly damaging	Het
Mrpl9	A	G	3: 94,447,290	R204G	probably benign	Het
Naaladl1	A	G	19: 6,105,988	E64G	probably benign	Het
Nlrx1	T	C	9: 44,262,341	E521G	possibly damaging	Het
Npc2	A	G	12: 84,765,307	S54P	probably damaging	Het
Nxpe2	T	C	9: 48,339,537	M37V	probably benign	Het
Olfr1272	T	C	2: 90,281,922	I218V	probably benign	Het
Olfr1412	C	T	1: 92,588,912	A194V	probably benign	Het
Olfr263	T	G	13: 21,133,246	V157G	probably benign	Het
Osbpl9	G	A	4: 109,083,099	R213C	probably benign	Het
Pard3	C	A	8: 127,415,683	R907S	probably damaging	Het
Pcdhb11	A	G	18: 37,423,506	S630G	probably benign	Het
Pcdhb17	G	A	18: 37,485,445	C96Y	probably damaging	Het
Pclo	C	T	5: 14,679,342	T2738I	unknown	Het
Pcnx2	G	A	8: 125,753,584	R1995*	probably null	Het
Ppm1a	T	A	12: 72,784,233	N177K	probably benign	Het
Rfx6	A	T	10: 51,678,380	K106*	probably null	Het
Rhoh	T	C	5: 65,892,864	V159A	probably damaging	Het
Rreb1	T	C	13: 37,899,748	V129A	probably damaging	Het
Sdccag8	C	A	1: 176,874,601	A424D	probably damaging	Het
Sdf2	T	C	11: 78,245,997	M1T	probably null	Het
Sftpb	T	A	6: 72,305,824	F94I	possibly damaging	Het
Slc38a2	G	T	15: 96,691,382	H410Q	probably damaging	Het
Slc40a1	A	T	1: 45,921,224	V68E	probably damaging	Het
Srd5a3	T	C	5: 76,149,837	V162A	possibly damaging	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Tango6	A	G	8: 106,807,101	D953G	probably damaging	Het
Tdrd7	T	C	4: 46,029,693	S1009P	probably damaging	Het
Thap3	T	C	4: 151,988,916	Y14C	possibly damaging	Het
Tmem143	T	A	7: 45,909,477	M281K	possibly damaging	Het
Trio	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGACACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	TACCTTGTTACTGAGCCCTTCTCACCTTCACAGATACCTTGTTACTGAGCCCTTCTC	15: 27,742,313		probably benign	Het
Tsga10	A	G	1: 37,783,884	I516T	probably damaging	Het
Ttn	T	C	2: 76,890,669	I6804V	unknown	Het
Ubtfl1	C	A	9: 18,409,847	P224T	probably damaging	Het
Umad1	G	T	6: 8,427,185	C120F	probably null	Het
Vmn2r79	T	C	7: 87,002,266	V291A	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
R1482:Olfr699	UTSW	7	106790333	missense	probably benign	0.00
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
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'- GGACACATATTCTCAGCTTCTCTAG -3'
(R):5'- GGGTGTGGCCTTCCTAATTC -3'

Sequencing Primer
(F):5'- TCTCAGCTTCTCTAGAAAAAGAAAC -3'
(R):5'- ACTTGCTGCCATCCTAGC -3'

Posted On

2019-05-15