Mutagenetix > Incidental Mutations

Incidental Mutation 'R6150:Olfr399'

489205

Institutional Source

Beutler Lab

Gene Symbol

Olfr399

Ensembl Gene

ENSMUSG00000043692

Gene Name

olfactory receptor 399

Synonyms

GA_x6K02T2P1NL-4211516-4210581, MOR255-1

MMRRC Submission

044297-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R6150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74053127-74056615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74054319 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 147 (S147A)

Ref Sequence

ENSEMBL: ENSMUSP00000149917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059440] [ENSMUST00000206280] [ENSMUST00000215915]

Predicted Effect

probably benign
Transcript: ENSMUST00000059440
AA Change: S147A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000056508
Gene: ENSMUSG00000043692
AA Change: S147A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.9e-55	PFAM
Pfam:7tm_1	44	293	1.4e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125093

Predicted Effect

probably benign
Transcript: ENSMUST00000206280

Predicted Effect

probably benign
Transcript: ENSMUST00000215915
AA Change: S147A

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (56/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	A	G	11: 61,213,508	T74A	probably benign	Het
Arhgef1	T	C	7: 24,919,357		probably null	Het
Art1	C	G	7: 102,107,087	R162G	probably benign	Het
Boll	T	A	1: 55,270,653	I280F	possibly damaging	Het
Cep44	T	C	8: 56,539,805	E258G	probably benign	Het
Cutc	T	A	19: 43,759,889	V75E	probably damaging	Het
Dtx1	T	C	5: 120,681,363	K590R	probably damaging	Het
Eps8	A	T	6: 137,517,174	D295E	probably damaging	Het
Erc2	C	A	14: 28,141,291	S491Y	probably damaging	Het
F2rl3	G	T	8: 72,762,738	A198S	probably benign	Het
Fam83b	G	A	9: 76,492,357	T488M	probably damaging	Het
Fitm2	A	G	2: 163,470,074	L73P	probably damaging	Het
Fxyd1	T	C	7: 31,054,803		probably null	Het
Gm17186	T	C	14: 51,680,726		noncoding transcript	Het
Hivep3	C	A	4: 119,734,077	S94*	probably null	Het
Ifna1	T	A	4: 88,850,112	M9K	probably null	Het
Igsf11	G	A	16: 39,023,349	E275K	probably damaging	Het
Itga1	G	A	13: 114,968,233	L1086F	probably benign	Het
Itgav	T	C	2: 83,776,436	S374P	probably benign	Het
Jmy	A	T	13: 93,441,133	N842K	probably benign	Het
Kcnh6	G	A	11: 106,020,731	V595M	possibly damaging	Het
Kif13b	T	A	14: 64,751,639	I823N	probably damaging	Het
Kif26b	T	C	1: 178,915,546	L1069P	probably damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Kmt2b	G	T	7: 30,588,477		probably benign	Het
Map10	G	A	8: 125,671,589	D574N	probably damaging	Het
Mau2	A	T	8: 70,019,837	H565Q	probably benign	Het
Myb	A	G	10: 21,141,769	I641T	probably damaging	Het
Naaladl2	C	A	3: 24,552,050	G15V	probably null	Het
Olfr370	G	A	8: 83,541,153	C3Y	probably benign	Het
Olfr800	A	G	10: 129,659,934	I43V	probably benign	Het
Olfr867	A	T	9: 20,054,874	N78K	probably benign	Het
Otog	A	G	7: 46,264,059	E772G	possibly damaging	Het
Pla2g4d	T	C	2: 120,269,564	D674G	probably damaging	Het
Pmpcb	A	G	5: 21,737,139		probably null	Het
Pomk	A	G	8: 25,983,256	V223A	possibly damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Serpina1e	A	G	12: 103,950,807	V201A	probably benign	Het
Six5	C	T	7: 19,097,521	P646S	probably benign	Het
Slc17a9	A	G	2: 180,737,628	I298V	probably benign	Het
Slc37a2	G	T	9: 37,238,347	T188K	probably damaging	Het
Slc6a11	T	A	6: 114,245,618	F525I	probably benign	Het
Slit2	A	T	5: 48,304,174	D1504V	probably damaging	Het
Srcap	T	A	7: 127,534,828	M907K	probably damaging	Het
Sspo	T	C	6: 48,486,379	L3746P	probably benign	Het
Supv3l1	A	T	10: 62,435,722	N376K	possibly damaging	Het
Tekt3	A	T	11: 63,094,657	T430S	possibly damaging	Het
Tex2	A	T	11: 106,567,080	V508D	probably benign	Het
Tmem184c	G	T	8: 77,596,440	Q598K	probably benign	Het
Ube2v1	G	A	2: 167,617,954	R42*	probably null	Het
Usp45	A	C	4: 21,810,797	D331A	probably damaging	Het
Vangl1	T	C	3: 102,184,519	T84A	probably damaging	Het
Vgll3	T	A	16: 65,828,178		probably null	Het
Vmn1r61	T	A	7: 5,610,679	H212L	probably benign	Het
Vmn2r114	A	G	17: 23,291,295	V737A	probably benign	Het
Vmn2r35	A	T	7: 7,786,556	D727E	probably damaging	Het
Vps18	T	A	2: 119,297,592	Y965*	probably null	Het
Zfp521	A	T	18: 13,844,078	C1093S	probably damaging	Het
Zfp971	A	C	2: 178,033,454	H282P	probably benign	Het

Other mutations in Olfr399

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Olfr399	APN	11	74054475	missense	probably benign	0.41
R1344:Olfr399	UTSW	11	74054212	nonsense	probably null
R1496:Olfr399	UTSW	11	74053824	makesense	probably null
R1708:Olfr399	UTSW	11	74053988	missense	probably damaging	0.99
R1911:Olfr399	UTSW	11	74054384	missense	probably damaging	0.99
R2056:Olfr399	UTSW	11	74053993	nonsense	probably null
R3418:Olfr399	UTSW	11	74053988	missense	probably damaging	0.99
R5444:Olfr399	UTSW	11	74053977	missense	probably benign	0.19
R5470:Olfr399	UTSW	11	74053907	missense	possibly damaging	0.90
R6442:Olfr399	UTSW	11	74054679	missense	probably benign	0.00
R6687:Olfr399	UTSW	11	74054384	missense	probably damaging	0.99
R7195:Olfr399	UTSW	11	74054397	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCTGCTGCTACAAAGAGC -3'
(R):5'- GGATGCATTAGTGTCACTGTTCC -3'

Sequencing Primer
(F):5'- GCTGCTACAAAGAGCAGCTGC -3'
(R):5'- ACTGTTCCTGCCATGTTGAAAC -3'

Posted On

2017-10-10