Incidental Mutation 'IGL01925:Olfr558'
ID180273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr558
Ensembl Gene ENSMUSG00000070423
Gene Nameolfactory receptor 558
SynonymsMOR18-1, GA_x6K02T2PBJ9-5425951-5426904
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01925
Quality Score
Status
Chromosome7
Chromosomal Location102702215-102712064 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 102710203 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 315 (S315P)
Ref Sequence ENSEMBL: ENSMUSP00000091674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]
Predicted Effect probably benign
Transcript: ENSMUST00000084817
SMART Domains Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273

DomainStartEndE-ValueType
Pfam:7tm_4 37 317 2.1e-117 PFAM
Pfam:7TM_GPCR_Srsx 41 211 7.5e-11 PFAM
Pfam:7tm_1 47 299 2.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094124
AA Change: S315P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: S315P

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.2e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 2.4e-7 PFAM
Pfam:7tm_1 43 293 2.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210002
Predicted Effect probably benign
Transcript: ENSMUST00000216312
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190002N15Rik A C 9: 94,520,456 D384E probably damaging Het
Aloxe3 A G 11: 69,128,633 D124G probably damaging Het
Arap3 C T 18: 37,984,246 V926I probably benign Het
Col6a3 C T 1: 90,802,236 V1176M possibly damaging Het
D5Ertd579e A T 5: 36,614,284 D922E possibly damaging Het
Epm2a T A 10: 11,448,758 I197N possibly damaging Het
Faim T G 9: 98,990,919 probably benign Het
Fkbp15 A G 4: 62,323,213 I565T probably damaging Het
Fli1 G A 9: 32,465,831 P47L probably damaging Het
Gli2 T C 1: 118,853,376 K187R probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm16432 T A 1: 178,015,121 probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hspa5 G A 2: 34,774,718 V395I probably benign Het
Ide T C 19: 37,277,897 T836A unknown Het
Il9 T A 13: 56,481,871 probably benign Het
Ints8 C T 4: 11,235,617 probably benign Het
Lrrc37a T A 11: 103,498,419 H2060L probably benign Het
Mok T C 12: 110,808,212 N208S probably benign Het
Morn3 T C 5: 123,046,762 K5R probably damaging Het
Nalcn C T 14: 123,291,848 C1405Y possibly damaging Het
Ndufv3 T C 17: 31,527,486 S117P possibly damaging Het
Ninl A T 2: 150,971,059 C226S probably damaging Het
Olfr120 A G 17: 37,726,111 E29G probably benign Het
Olfr1364 T C 13: 21,574,171 D95G possibly damaging Het
Olfr1532-ps1 T A 7: 106,915,028 F277I probably damaging Het
Olfr275 A G 4: 52,825,910 N171S probably benign Het
Olfr366 A G 2: 37,220,046 T186A probably benign Het
Onecut2 T C 18: 64,341,514 W360R probably damaging Het
Rai14 A G 15: 10,595,862 S118P possibly damaging Het
Serpinb7 T C 1: 107,451,669 S269P probably benign Het
Sesn3 C T 9: 14,320,400 T209I probably damaging Het
Slit1 T A 19: 41,608,378 N1094I probably damaging Het
Tep1 C T 14: 50,824,498 probably benign Het
Top1mt A G 15: 75,657,143 F584S possibly damaging Het
Trim44 A T 2: 102,400,017 L223Q probably benign Het
Trim69 T A 2: 122,167,916 L123Q probably damaging Het
Ubr2 A T 17: 46,954,949 L1153I possibly damaging Het
Unc13a G A 8: 71,634,543 T1520I possibly damaging Het
Vmn2r105 A C 17: 20,208,711 I701S possibly damaging Het
Wrn T C 8: 33,319,180 T263A probably benign Het
Yeats2 T G 16: 20,179,680 probably benign Het
Ythdf2 T C 4: 132,210,774 Y37C probably damaging Het
Zfp169 T C 13: 48,490,763 probably benign Het
Other mutations in Olfr558
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Olfr558 APN 7 102709565 missense probably damaging 0.99
IGL02172:Olfr558 APN 7 102709844 missense probably benign
R0197:Olfr558 UTSW 7 102709995 missense probably damaging 1.00
R0883:Olfr558 UTSW 7 102709995 missense probably damaging 1.00
R1870:Olfr558 UTSW 7 102709754 missense possibly damaging 0.92
R2894:Olfr558 UTSW 7 102709675 missense probably damaging 0.99
R4033:Olfr558 UTSW 7 102709490 missense probably damaging 1.00
R4695:Olfr558 UTSW 7 102709557 missense probably damaging 1.00
R4738:Olfr558 UTSW 7 102710171 missense probably damaging 1.00
R4739:Olfr558 UTSW 7 102710171 missense probably damaging 1.00
R4740:Olfr558 UTSW 7 102710171 missense probably damaging 1.00
R4901:Olfr558 UTSW 7 102710198 missense probably benign 0.00
R5187:Olfr558 UTSW 7 102709661 missense probably damaging 1.00
R5385:Olfr558 UTSW 7 102709346 missense probably damaging 1.00
R5529:Olfr558 UTSW 7 102709693 nonsense probably null
R6666:Olfr558 UTSW 7 102709928 unclassified probably null
R7318:Olfr558 UTSW 7 102710019 nonsense probably null
R7453:Olfr558 UTSW 7 102709517 missense probably damaging 0.99
R7546:Olfr558 UTSW 7 102709789 missense probably damaging 1.00
R7643:Olfr558 UTSW 7 102709538 missense probably benign 0.00
Posted On2014-05-07