Incidental Mutation 'IGL02291:Olfr532'
ID 290323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr532
Ensembl Gene ENSMUSG00000063823
Gene Name olfactory receptor 532
Synonyms GA_x6K02T2PBJ9-42570051-42569122, MOR251-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02291
Quality Score
Status
Chromosome 7
Chromosomal Location 140415710-140421639 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140419287 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 162 (L162Q)
Ref Sequence ENSEMBL: ENSMUSP00000150798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073226] [ENSMUST00000213801]
AlphaFold Q8VGT4
Predicted Effect probably damaging
Transcript: ENSMUST00000073226
AA Change: L162Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072959
Gene: ENSMUSG00000063823
AA Change: L162Q

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.7e-51 PFAM
Pfam:7TM_GPCR_Srsx 35 305 2.5e-6 PFAM
Pfam:7tm_1 41 290 1.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213172
Predicted Effect probably damaging
Transcript: ENSMUST00000213801
AA Change: L162Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF366264 T A 8: 13,837,704 N129I probably benign Het
Arhgap10 T A 8: 77,382,715 probably benign Het
Cfap161 C T 7: 83,791,639 G135D probably benign Het
Cpne1 A G 2: 156,078,420 V179A probably damaging Het
Cpsf1 A T 15: 76,602,821 I219N probably damaging Het
Creb3l4 T G 3: 90,241,983 R139S probably benign Het
Fer1l4 T C 2: 156,019,538 K1929E probably damaging Het
Gm5431 A G 11: 48,888,964 L655P probably damaging Het
Igsf3 T G 3: 101,439,529 H613Q probably damaging Het
Kcnab1 T C 3: 65,357,082 Y251H possibly damaging Het
Kmt2d T C 15: 98,865,492 probably benign Het
Krt17 A T 11: 100,256,493 V404E probably benign Het
Lipo2 A G 19: 33,745,792 I199T possibly damaging Het
Mks1 T A 11: 87,859,667 probably benign Het
Nlrp1a A T 11: 71,122,589 probably null Het
Nup210 T C 6: 91,101,268 D100G probably damaging Het
Olfr108 G A 17: 37,446,285 V255I possibly damaging Het
Olfr1393 T A 11: 49,280,985 I279N probably damaging Het
Olfr871 T C 9: 20,212,802 I151T probably benign Het
Psmd5 A G 2: 34,857,799 V282A probably benign Het
Rasal3 A T 17: 32,393,737 probably benign Het
Rnf10 T C 5: 115,260,196 N93D probably damaging Het
Slc7a9 G A 7: 35,457,014 G294R probably damaging Het
Taf7 C T 18: 37,643,362 G51R possibly damaging Het
Tas2r126 G A 6: 42,435,287 M251I probably benign Het
Trim33 T C 3: 103,326,865 F473S probably damaging Het
Vmn1r127 A G 7: 21,319,074 L263P possibly damaging Het
Vmn1r234 G A 17: 21,228,931 V36I probably benign Het
Vmn2r84 T A 10: 130,390,748 H407L probably damaging Het
Other mutations in Olfr532
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Olfr532 APN 7 140418915 missense probably damaging 1.00
IGL01743:Olfr532 APN 7 140419668 missense probably damaging 1.00
IGL01797:Olfr532 APN 7 140419018 missense probably damaging 1.00
IGL02382:Olfr532 APN 7 140419603 missense possibly damaging 0.72
IGL02514:Olfr532 APN 7 140419594 missense probably damaging 1.00
IGL02600:Olfr532 APN 7 140418949 missense probably benign
IGL02613:Olfr532 APN 7 140419470 missense probably benign 0.04
R0358:Olfr532 UTSW 7 140418943 missense probably damaging 0.98
R0827:Olfr532 UTSW 7 140419467 missense probably damaging 0.99
R1464:Olfr532 UTSW 7 140419373 missense probably benign 0.01
R1464:Olfr532 UTSW 7 140419373 missense probably benign 0.01
R1539:Olfr532 UTSW 7 140419413 missense probably benign 0.26
R1691:Olfr532 UTSW 7 140418942 missense probably damaging 1.00
R2012:Olfr532 UTSW 7 140419111 missense probably damaging 1.00
R2195:Olfr532 UTSW 7 140419225 missense possibly damaging 0.49
R4519:Olfr532 UTSW 7 140419210 missense probably damaging 1.00
R6368:Olfr532 UTSW 7 140419667 nonsense probably null
R6656:Olfr532 UTSW 7 140419604 missense probably damaging 0.99
R7467:Olfr532 UTSW 7 140419374 missense probably benign
R7610:Olfr532 UTSW 7 140419553 nonsense probably null
R7795:Olfr532 UTSW 7 140419114 missense possibly damaging 0.49
R7837:Olfr532 UTSW 7 140419321 missense probably benign 0.01
R8755:Olfr532 UTSW 7 140419504 missense probably benign 0.00
R9706:Olfr532 UTSW 7 140419353 missense probably damaging 0.96
Posted On 2015-04-16