Incidental Mutation 'IGL03339:Olfr569'
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ID417134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr569
Ensembl Gene ENSMUSG00000062142
Gene Nameolfactory receptor 569
SynonymsMOR30-1, GA_x6K02T2PBJ9-5599295-5598351
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.261) question?
Stock #IGL03339
Quality Score
Status
Chromosome7
Chromosomal Location102883709-102890882 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 102887782 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 124 (R124C)
Ref Sequence ENSEMBL: ENSMUSP00000149088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078191] [ENSMUST00000217024]
Predicted Effect probably benign
Transcript: ENSMUST00000078191
AA Change: R124C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000077321
Gene: ENSMUSG00000062142
AA Change: R124C

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.2e-113 PFAM
Pfam:7TM_GPCR_Srsx 37 229 1.3e-9 PFAM
Pfam:7tm_1 43 294 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217024
AA Change: R124C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,442,456 E323G probably damaging Het
A4gnt T C 9: 99,620,548 S254P probably damaging Het
Actn4 A G 7: 28,901,982 L447P probably damaging Het
Agbl2 C A 2: 90,797,563 S237R probably damaging Het
Apc G A 18: 34,298,474 D309N probably damaging Het
Arhgef3 A G 14: 27,401,857 M492V probably damaging Het
Atp10b T A 11: 43,230,615 M1035K probably null Het
Cfap69 T A 5: 5,586,436 probably benign Het
Ctf1 A G 7: 127,713,994 N24S probably benign Het
Cx3cr1 T A 9: 120,051,437 K300* probably null Het
Ddx25 A T 9: 35,542,003 Y484N probably damaging Het
Eif4g1 A G 16: 20,680,984 E506G possibly damaging Het
Ficd G T 5: 113,738,739 R325L probably benign Het
G6pc2 A G 2: 69,220,895 probably benign Het
Gm11168 C A 9: 3,004,767 P103T probably benign Het
Hbb-y A T 7: 103,852,769 H98Q probably damaging Het
Hmcn1 A G 1: 150,701,969 S2014P probably benign Het
Hoxc5 T C 15: 103,014,136 Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 probably benign Het
Ighg2c A C 12: 113,287,994 V171G unknown Het
Kctd13 A G 7: 126,945,018 D296G probably benign Het
Mfsd2b A C 12: 4,874,335 M1R probably null Het
Nipbl A G 15: 8,350,876 S811P probably benign Het
Olfr118 G A 17: 37,672,557 C178Y possibly damaging Het
Olfr119 G T 17: 37,700,791 M40I probably damaging Het
Olfr1484 T G 19: 13,586,075 M257R probably damaging Het
Pcolce2 T C 9: 95,678,340 probably benign Het
Pik3c2a G T 7: 116,418,021 T167K possibly damaging Het
Ppp1r18 A G 17: 35,868,046 D271G probably benign Het
Rnf213 T C 11: 119,443,004 I3013T probably damaging Het
Rock1 A T 18: 10,097,493 M765K probably benign Het
Sec16a T C 2: 26,435,933 Y1244C probably benign Het
Taar7d T C 10: 24,027,306 C29R possibly damaging Het
Tmem56 C T 3: 121,228,840 probably benign Het
Ttn A C 2: 76,741,920 F26210V probably damaging Het
Ube2b A T 11: 51,986,707 V145D probably damaging Het
Vmn1r219 T G 13: 23,163,410 S256R possibly damaging Het
Other mutations in Olfr569
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01965:Olfr569 APN 7 102887607 missense probably damaging 1.00
IGL02505:Olfr569 APN 7 102887607 missense probably damaging 1.00
IGL02885:Olfr569 APN 7 102888036 missense possibly damaging 0.83
R0383:Olfr569 UTSW 7 102887251 missense possibly damaging 0.91
R1767:Olfr569 UTSW 7 102887626 missense probably damaging 1.00
R1793:Olfr569 UTSW 7 102888043 missense probably benign 0.44
R1812:Olfr569 UTSW 7 102888078 missense probably benign 0.32
R6061:Olfr569 UTSW 7 102887951 missense probably benign 0.31
R7855:Olfr569 UTSW 7 102887628 missense probably benign 0.01
R8155:Olfr569 UTSW 7 102887245 missense probably benign 0.00
Z1177:Olfr569 UTSW 7 102887761 missense probably damaging 1.00
Posted On2016-08-02