Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03119:Olfr599'

409903

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfr599

Ensembl Gene

ENSMUSG00000073950

Gene Name

olfactory receptor 599

Synonyms

GA_x6K02T2PBJ9-6047402-6048349, MOR23-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

IGL03119

Quality Score

Status

Chromosome

Chromosomal Location

103335917-103339564 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103338722 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 223 (I223V)

Ref Sequence

ENSEMBL: ENSMUSP00000149281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098201] [ENSMUST00000214329] [ENSMUST00000215042]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098201
AA Change: I223V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095803
Gene: ENSMUSG00000073950
AA Change: I223V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	311	1.8e-94	PFAM
Pfam:7TM_GPCR_Srsx	37	308	1.2e-6	PFAM
Pfam:7tm_1	43	293	2.1e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214329
AA Change: I223V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably benign
Transcript: ENSMUST00000215042

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,714,887	T626A	probably benign	Het
Adcy1	C	T	11: 7,109,051	T319I	probably damaging	Het
Adgrv1	A	C	13: 81,433,700	C4742G	probably benign	Het
Adgrv1	A	G	13: 81,382,373	S5861P	probably damaging	Het
Arid5b	A	T	10: 68,243,227	D93E	probably damaging	Het
Atp6v1h	A	G	1: 5,095,669	T121A	probably benign	Het
Atxn7	C	T	14: 14,100,734	L807F	probably damaging	Het
Cep104	A	C	4: 153,981,724	K126N	probably damaging	Het
Dcaf6	T	C	1: 165,339,976	E708G	probably damaging	Het
Dst	A	G	1: 34,161,062	Y107C	probably damaging	Het
E2f3	A	G	13: 29,985,365	S102P	probably benign	Het
Eif3e	A	C	15: 43,265,604	S207A	probably benign	Het
Etl4	A	G	2: 20,713,387	Y313C	probably damaging	Het
Fyttd1	T	C	16: 32,900,695	V121A	probably benign	Het
Gstk1	T	C	6: 42,249,899	S200P	probably damaging	Het
Ifrd1	A	T	12: 40,212,334	F244L	probably null	Het
Ints7	T	C	1: 191,610,365	V491A	probably damaging	Het
Kcnd2	G	T	6: 21,216,509	E71*	probably null	Het
Ltbp3	A	T	19: 5,757,443	Q1123L	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Naa25	T	A	5: 121,434,978	V720E	probably null	Het
Olfr1480	T	C	19: 13,530,435	I298T	probably benign	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Peli1	T	C	11: 21,140,560		probably benign	Het
Ptbp1	T	C	10: 79,859,624	V209A	probably damaging	Het
Ranbp2	A	G	10: 58,452,003	Y31C	probably damaging	Het
Smg1	G	A	7: 118,195,113		probably benign	Het
Stat2	A	G	10: 128,283,517	M457V	probably benign	Het
Trpm6	G	T	19: 18,838,017	E1156*	probably null	Het
Usp53	T	A	3: 122,961,415	R130S	possibly damaging	Het
Vwa5b1	A	G	4: 138,606,541	S193P	probably benign	Het
Xrn2	A	G	2: 147,042,872	I626V	probably damaging	Het
Zfp574	G	A	7: 25,080,473	A307T	probably benign	Het

Other mutations in Olfr599

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01386:Olfr599	APN	7	103338767	nonsense	probably null
IGL01744:Olfr599	APN	7	103338228	missense	probably damaging	0.98
IGL02011:Olfr599	APN	7	103338849	missense	probably damaging	0.98
IGL02328:Olfr599	APN	7	103338290	missense	probably damaging	1.00
IGL02630:Olfr599	APN	7	103338429	missense	probably damaging	1.00
PIT4468001:Olfr599	UTSW	7	103338600	missense	probably damaging	1.00
R0599:Olfr599	UTSW	7	103338186	missense	probably damaging	1.00
R4084:Olfr599	UTSW	7	103338320	missense	probably damaging	0.99
R5068:Olfr599	UTSW	7	103338022	start gained	probably null
R5069:Olfr599	UTSW	7	103338022	start gained	probably null
R5280:Olfr599	UTSW	7	103338501	missense	probably benign
R5816:Olfr599	UTSW	7	103338995	missense	probably benign	0.00
R6560:Olfr599	UTSW	7	103338738	missense	probably benign	0.02
R7001:Olfr599	UTSW	7	103338221	missense	possibly damaging	0.51
R7890:Olfr599	UTSW	7	103338330	missense	probably benign
R8295:Olfr599	UTSW	7	103338267	missense	probably benign	0.08
R8430:Olfr599	UTSW	7	103338957	missense	probably benign	0.01

Posted On

2016-08-02