Incidental Mutation 'IGL01670:Olfr558'
ID103455
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: 0.091) question?
Stock #IGL01670
Quality Score
Status
Chromosome7
Chromosomal Location102702215-102712064 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 102709565 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 102 (Q102L)
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: Q102L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: Q102L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,436,807 probably benign Het
Add1 C A 5: 34,620,063 Q57K probably damaging Het
Alms1 A G 6: 85,678,150 E3226G probably benign Het
Arl1 G T 10: 88,742,022 R151L probably damaging Het
Cabs1 T A 5: 87,980,010 D173E possibly damaging Het
Cdc34b T C 11: 94,742,019 L15P probably benign Het
Cdyl2 A G 8: 116,624,353 V13A probably damaging Het
Chd7 G T 4: 8,827,033 R1026L probably damaging Het
Cldn34b4 T C X: 76,397,589 S151P probably damaging Het
Col14a1 T A 15: 55,329,266 I25N unknown Het
Crisp4 T A 1: 18,128,677 T178S probably benign Het
Csmd2 C T 4: 128,513,371 probably benign Het
Csmd3 T G 15: 47,611,829 N2454H probably damaging Het
Cytip A T 2: 58,133,773 I345N probably damaging Het
Frem2 A T 3: 53,656,937 S50T possibly damaging Het
Gm12666 T C 4: 92,191,500 probably null Het
Gm9747 C T 1: 82,234,149 probably benign Het
Gpr37 A G 6: 25,669,834 F337S probably damaging Het
Herc1 A G 9: 66,487,060 E4182G probably damaging Het
Isyna1 C T 8: 70,597,056 P511L probably benign Het
Kdm4a T C 4: 118,160,501 Y456C probably damaging Het
Kera A T 10: 97,609,077 R99S possibly damaging Het
Mcm2 A G 6: 88,887,632 probably benign Het
Myl12a T C 17: 70,996,853 T10A probably benign Het
Nav3 A G 10: 109,714,241 V1876A possibly damaging Het
Nkx6-1 T A 5: 101,661,940 Q247L probably benign Het
Nol8 A C 13: 49,661,308 K297N possibly damaging Het
Olfr1143 A G 2: 87,802,880 T164A probably benign Het
Olfr1224-ps1 T A 2: 89,156,917 Y86F probably benign Het
Pard3b A T 1: 62,211,648 N579Y probably damaging Het
Pdcd11 T A 19: 47,106,304 L509H probably damaging Het
Prss29 T C 17: 25,322,463 S266P probably benign Het
Rapgef3 G T 15: 97,749,662 H766N probably benign Het
Rasa1 A T 13: 85,225,490 S818T probably damaging Het
Rtn4ip1 A G 10: 43,928,326 M1V probably null Het
Sall1 A T 8: 89,031,571 V635D probably benign Het
Slc35b4 C T 6: 34,170,549 V35I probably benign Het
Slc5a11 G A 7: 123,269,949 A587T probably benign Het
Slc6a21 T C 7: 45,288,133 V616A possibly damaging Het
Sorl1 A G 9: 42,001,492 S1398P possibly damaging Het
Srcap A G 7: 127,528,432 K390E probably damaging Het
Sycp2 C T 2: 178,378,050 E558K probably benign Het
Tcf20 T C 15: 82,855,363 N629S possibly damaging Het
Tmem154 A G 3: 84,684,230 Y29C probably damaging Het
Tmtc3 A G 10: 100,447,125 I856T probably benign Het
Zswim6 A G 13: 107,728,566 noncoding transcript Het
Other mutations in Olfr558
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Olfr558 APN 7 102710203 missense probably damaging 0.98
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 On2014-01-21