Incidental Mutation 'IGL03243:Olfr58'
ID414299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr58
Ensembl Gene ENSMUSG00000058659
Gene Nameolfactory receptor 58
SynonymsIG6, MOR146-7P, MOR146-3, GA_x6K02T2PVTD-13523015-13523944
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL03243
Quality Score
Status
Chromosome9
Chromosomal Location19780283-19785333 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 19783268 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 45 (I45S)
Ref Sequence ENSEMBL: ENSMUSP00000150309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079660] [ENSMUST00000212363] [ENSMUST00000215112]
Predicted Effect probably damaging
Transcript: ENSMUST00000079660
AA Change: I45S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078603
Gene: ENSMUSG00000063842
AA Change: I45S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 303 8.3e-8 PFAM
Pfam:7tm_1 41 290 4.5e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212363
AA Change: I7S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215112
AA Change: I45S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Catsper2 T C 2: 121,406,819 H200R probably benign Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpn1 G A 5: 31,510,831 probably null Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Plek C A 11: 16,995,319 V4L possibly damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tmem30c A T 16: 57,276,150 S203T probably benign Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Znrf2 A T 6: 54,884,769 I222L possibly damaging Het
Other mutations in Olfr58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Olfr58 APN 9 19783949 unclassified probably null
IGL01815:Olfr58 APN 9 19784015 missense probably damaging 1.00
IGL02408:Olfr58 APN 9 19783415 missense probably benign 0.31
IGL02644:Olfr58 APN 9 19783714 missense probably benign 0.30
R0603:Olfr58 UTSW 9 19783939 missense probably damaging 1.00
R2363:Olfr58 UTSW 9 19783596 missense probably benign 0.00
R2570:Olfr58 UTSW 9 19784009 missense probably damaging 1.00
R3890:Olfr58 UTSW 9 19783715 missense probably benign 0.03
R3892:Olfr58 UTSW 9 19783715 missense probably benign 0.03
R4163:Olfr58 UTSW 9 19783790 missense possibly damaging 0.69
R4610:Olfr58 UTSW 9 19783146 nonsense probably null
R4691:Olfr58 UTSW 9 19783382 missense probably benign 0.33
R4707:Olfr58 UTSW 9 19783300 missense probably damaging 1.00
R4825:Olfr58 UTSW 9 19783576 missense possibly damaging 0.74
R4950:Olfr58 UTSW 9 19783731 missense probably benign
R5185:Olfr58 UTSW 9 19783376 missense probably damaging 1.00
R5202:Olfr58 UTSW 9 19783218 missense possibly damaging 0.46
R5439:Olfr58 UTSW 9 19783865 missense probably damaging 1.00
R5669:Olfr58 UTSW 9 19783757 missense probably benign 0.02
R5672:Olfr58 UTSW 9 19783211 missense possibly damaging 0.92
R6038:Olfr58 UTSW 9 19783562 missense probably benign
R6038:Olfr58 UTSW 9 19783562 missense probably benign
R6212:Olfr58 UTSW 9 19783289 missense probably damaging 1.00
R6415:Olfr58 UTSW 9 19783748 missense probably damaging 1.00
R7385:Olfr58 UTSW 9 19783211 missense possibly damaging 0.92
R7669:Olfr58 UTSW 9 19783543 missense possibly damaging 0.79
Posted On2016-08-02