Incidental Mutation 'IGL01650:Olfr592'
ID 102799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr592
Ensembl Gene ENSMUSG00000073956
Gene Name olfactory receptor 592
Synonyms MOR0-3P, MOR32-13, GA_x6K02T2PBJ9-5902266-5903204, Olfr1525-ps1, MOR0-3P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01650
Quality Score
Status
Chromosome 7
Chromosomal Location 103184803-103192965 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103187079 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 159 (I159M)
Ref Sequence ENSEMBL: ENSMUSP00000153755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098207] [ENSMUST00000106893] [ENSMUST00000218618]
AlphaFold A0A2I3BPE8
Predicted Effect probably benign
Transcript: ENSMUST00000098207
AA Change: I159M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: I159M

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 2.6e-26 PFAM
Pfam:7tm_4 141 287 2.3e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106893
AA Change: I159M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: I159M

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 6.9e-112 PFAM
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000218618
AA Change: I159M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,992,673 probably benign Het
Agbl1 A G 7: 76,420,319 D281G probably damaging Het
Arhgap28 T C 17: 67,873,132 E236G probably damaging Het
Btbd3 A T 2: 138,284,105 D334V probably damaging Het
Cabp4 T C 19: 4,139,324 E78G probably benign Het
Clcn4 T C 7: 7,284,281 probably benign Het
Col14a1 A G 15: 55,406,693 Y600C unknown Het
Cpne4 A G 9: 104,901,511 D167G probably damaging Het
Eif3a T A 19: 60,773,996 I450F probably damaging Het
Enpp2 T A 15: 54,919,933 Y10F probably benign Het
Fam227a A T 15: 79,634,073 H339Q possibly damaging Het
Far2 C A 6: 148,173,487 T406K possibly damaging Het
Fmo1 A G 1: 162,833,584 S377P probably benign Het
Fsip2 G A 2: 82,991,086 S5721N probably benign Het
Gatb T C 3: 85,613,484 I300T possibly damaging Het
Gpam T C 19: 55,081,700 N375D probably benign Het
Gsdma G T 11: 98,673,687 D331Y probably damaging Het
Kif13b T C 14: 64,765,145 V1073A probably benign Het
Mfsd4b1 T A 10: 40,003,119 M261L probably benign Het
Nav1 A T 1: 135,454,760 D1321E probably damaging Het
Olfr1312 A G 2: 112,042,375 I219T possibly damaging Het
Olfr813 T A 10: 129,857,067 L183Q probably damaging Het
Olfr816 A G 10: 129,911,681 V199A probably benign Het
Olfr951 G T 9: 39,393,956 S55I probably damaging Het
Ppp1r10 G T 17: 35,931,161 R857L unknown Het
Prune2 T A 19: 17,168,292 I2752N possibly damaging Het
Pxdn T C 12: 30,002,401 I859T probably benign Het
Ros1 T C 10: 52,154,979 D510G probably damaging Het
Sema3g C A 14: 31,221,787 P208H probably benign Het
Smcr8 T C 11: 60,778,184 F53L probably damaging Het
Tnfsf13b A T 8: 10,031,411 I219F probably damaging Het
Vmn1r62 T C 7: 5,676,025 V235A probably damaging Het
Vmn2r44 C A 7: 8,380,104 probably null Het
Zkscan7 A G 9: 122,894,827 D287G probably benign Het
Other mutations in Olfr592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Olfr592 APN 7 103187410 missense probably damaging 0.99
IGL02682:Olfr592 APN 7 103187014 missense probably damaging 0.99
R0925:Olfr592 UTSW 7 103186823 nonsense probably null
R1543:Olfr592 UTSW 7 103187214 missense probably benign 0.26
R1761:Olfr592 UTSW 7 103187118 missense probably damaging 1.00
R2017:Olfr592 UTSW 7 103186930 missense probably benign 0.00
R2152:Olfr592 UTSW 7 103186640 missense probably benign
R4678:Olfr592 UTSW 7 103186891 missense probably damaging 0.97
R4679:Olfr592 UTSW 7 103187102 missense probably benign 0.05
R5177:Olfr592 UTSW 7 103187503 missense probably benign 0.11
R5986:Olfr592 UTSW 7 103187528 missense possibly damaging 0.87
R6808:Olfr592 UTSW 7 103187304 missense probably benign 0.18
R7400:Olfr592 UTSW 7 103187380 missense probably damaging 1.00
R8781:Olfr592 UTSW 7 103186875 missense probably benign 0.01
R9245:Olfr592 UTSW 7 103186987 missense probably damaging 0.99
R9470:Olfr592 UTSW 7 103187063 missense probably benign 0.00
RF005:Olfr592 UTSW 7 103186691 missense possibly damaging 0.94
Posted On 2014-01-21