Mutagenetix > Incidental Mutations

Incidental Mutation 'R7132:Olfr1499'

552787

Institutional Source

Beutler Lab

Gene Symbol

Olfr1499

Ensembl Gene

ENSMUSG00000045395

Gene Name

olfactory receptor 1499

Synonyms

MOR211-2, GA_x6K02T2RE5P-4147744-4146800

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7132 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13814275-13819447 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13815422 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 56 (Q56L)

Ref Sequence

ENSEMBL: ENSMUSP00000150330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055672] [ENSMUST00000216659]

Predicted Effect

probably benign
Transcript: ENSMUST00000055672
AA Change: Q56L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000059747
Gene: ENSMUSG00000045395
AA Change: Q56L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	307	2.6e-44	PFAM
Pfam:7tm_1	41	290	1.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216659
AA Change: Q56L

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

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

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	C	T	10: 69,989,914	A1471V		Het
Ankrd12	C	A	17: 65,983,247	M1730I	probably benign	Het
Ap2a2	T	C	7: 141,619,565	Y462H	probably benign	Het
Ap5b1	T	A	19: 5,569,384	Y277*	probably null	Het
App	T	C	16: 85,056,482	D236G	unknown	Het
Arid2	A	T	15: 96,350,013	K102I	possibly damaging	Het
Asl	A	G	5: 130,014,702	V211A	possibly damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Cbx2	A	G	11: 119,023,121	S5G	probably benign	Het
Ccdc183	A	G	2: 25,616,530		probably null	Het
Cd72	T	C	4: 43,452,444	Q183R	possibly damaging	Het
Cdh26	T	A	2: 178,486,762	D702E	possibly damaging	Het
Cfap61	A	T	2: 146,109,950	N784I	probably damaging	Het
Cgrrf1	G	A	14: 46,853,864	V282M	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cobll1	T	G	2: 65,133,768	K170Q	probably damaging	Het
Copg2	A	T	6: 30,815,996	V468D	probably benign	Het
Cracr2b	C	T	7: 141,463,738	A84V	probably benign	Het
Cyp2f2	A	T	7: 27,132,568	D416V	probably benign	Het
Dcaf10	T	C	4: 45,342,391	F75S	probably benign	Het
Eml3	G	T	19: 8,941,028	A829S	probably benign	Het
Entpd3	A	G	9: 120,561,020	T402A	probably benign	Het
Fer1l4	A	T	2: 156,045,626	V550E	probably damaging	Het
Fgb	G	A	3: 83,046,746	R62*	probably null	Het
Fubp1	T	A	3: 152,232,024		probably null	Het
Gdf3	A	C	6: 122,606,324	D361E	probably damaging	Het
Gm6685	A	T	11: 28,339,330	I162N	probably damaging	Het
Hmx2	A	G	7: 131,555,916	Y253C	probably damaging	Het
Ints2	G	T	11: 86,217,754	N922K	probably benign	Het
Ipo7	C	T	7: 110,054,047	L984F	probably benign	Het
Itgae	A	T	11: 73,111,358	Y96F	possibly damaging	Het
Kalrn	A	G	16: 34,256,227	V697A	unknown	Het
Kctd18	G	A	1: 57,967,578	R38*	probably null	Het
Kdm5b	A	G	1: 134,599,106	D322G	probably damaging	Het
Ldb3	A	G	14: 34,577,035	Y211H	probably benign	Het
Limch1	T	C	5: 66,953,685	F85S	probably damaging	Het
Lrrn4	A	T	2: 132,879,693	L68*	probably null	Het
Lrwd1	A	G	5: 136,123,275	V616A	possibly damaging	Het
Nars	A	G	18: 64,507,770		probably null	Het
Nradd	T	C	9: 110,622,261	D13G	probably benign	Het
Oacyl	A	T	18: 65,698,409	N39I	probably damaging	Het
Onecut2	A	T	18: 64,340,912	H178L	possibly damaging	Het
Pcdhga4	A	C	18: 37,687,377	T660P	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pitpnm3	T	A	11: 72,051,276	I902F	possibly damaging	Het
Plod3	T	C	5: 136,995,117	L180S		Het
Prrc2c	A	T	1: 162,681,281	H2354Q	possibly damaging	Het
Pth2r	A	G	1: 65,322,066	E58G	probably benign	Het
Rev1	G	T	1: 38,071,449	D573E	possibly damaging	Het
Sec24a	A	T	11: 51,715,136	L696*	probably null	Het
Serpinb3c	A	G	1: 107,276,951	S22P	probably damaging	Het
St18	A	T	1: 6,859,127	H81L		Het
Stard9	A	T	2: 120,679,378	K266*	probably null	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Syne1	G	A	10: 5,243,180	A3956V	probably damaging	Het
Tcp10a	C	T	17: 7,344,952	T381I	probably benign	Het
Tecpr2	T	A	12: 110,915,372	V125D	probably damaging	Het
Tmc2	T	C	2: 130,232,409	S341P	possibly damaging	Het
Tmem190	G	A	7: 4,784,225	V143I	probably benign	Het
Trap1	A	G	16: 4,055,829	Y288H	probably benign	Het
Trim39	T	C	17: 36,260,655	T404A	probably benign	Het
Ttn	T	A	2: 76,745,699	K24950I	probably damaging	Het
Ttn	G	T	2: 76,944,352	N2161K	unknown	Het
Unc13b	T	C	4: 43,215,757	S19P	probably benign	Het
Uqcrc1	T	A	9: 108,949,468	I471N	probably damaging	Het
Wbp11	T	C	6: 136,821,542	T170A	probably benign	Het
Wnk4	A	G	11: 101,261,200	I177V	probably benign	Het
Zfp455	C	A	13: 67,199,166	P51T	probably damaging	Het
Zfp946	T	C	17: 22,454,663	Y133H	probably benign	Het
Zfp955a	A	T	17: 33,241,615	Y514*	probably null	Het
Zzef1	T	C	11: 72,917,871		probably null	Het

Other mutations in Olfr1499

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Olfr1499	APN	19	13815302	missense	probably benign	0.09
IGL01844:Olfr1499	APN	19	13814816	missense	possibly damaging	0.95
IGL03102:Olfr1499	APN	19	13815371	missense	probably damaging	1.00
IGL03352:Olfr1499	APN	19	13814928	missense	probably damaging	1.00
R0218:Olfr1499	UTSW	19	13814978	missense	probably benign	0.19
R0490:Olfr1499	UTSW	19	13814855	missense	probably damaging	1.00
R0682:Olfr1499	UTSW	19	13815137	missense	possibly damaging	0.94
R1301:Olfr1499	UTSW	19	13815362	missense	probably damaging	1.00
R1328:Olfr1499	UTSW	19	13815536	missense	probably benign	0.01
R2100:Olfr1499	UTSW	19	13815236	missense	possibly damaging	0.95
R3701:Olfr1499	UTSW	19	13815348	missense	probably benign	0.03
R4563:Olfr1499	UTSW	19	13815282	missense	probably benign	0.01
R4709:Olfr1499	UTSW	19	13815450	missense	possibly damaging	0.94
R5231:Olfr1499	UTSW	19	13815347	missense	probably damaging	0.99
R5301:Olfr1499	UTSW	19	13815569	missense	probably damaging	0.99
R5343:Olfr1499	UTSW	19	13814960	missense	probably damaging	1.00
R6268:Olfr1499	UTSW	19	13815307	nonsense	probably null
R6442:Olfr1499	UTSW	19	13815628	start gained	probably benign
Z1088:Olfr1499	UTSW	19	13815548	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGATCATAGGACATCACTGC -3'
(R):5'- AACGGTGTTGGAATGCAAGC -3'

Sequencing Primer
(F):5'- GCCAACAGGAAACATTCTGTACTTG -3'
(R):5'- GCACAAAAGTGGCATCTTCATTTTCC -3'

Posted On

2019-05-15