Incidental Mutation 'IGL03281:Olfr536'
ID415585
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr536
Ensembl Gene ENSMUSG00000052508
Gene Nameolfactory receptor 536
SynonymsGA_x6K02T2PBJ9-42653501-42652578, MOR252-1, MOR252-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03281
Quality Score
Status
Chromosome7
Chromosomal Location140500849-140507396 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 140503800 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 220 (I220F)
Ref Sequence ENSEMBL: ENSMUSP00000149758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064392] [ENSMUST00000209873] [ENSMUST00000215340] [ENSMUST00000215768]
Predicted Effect probably damaging
Transcript: ENSMUST00000064392
AA Change: I220F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067699
Gene: ENSMUSG00000052508
AA Change: I220F

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 8.7e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 304 5.4e-6 PFAM
Pfam:7tm_1 41 289 3.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211326
Predicted Effect probably damaging
Transcript: ENSMUST00000215340
AA Change: I220F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215768
AA Change: I220F

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,880,775 R361H probably benign Het
A830010M20Rik A T 5: 107,503,876 T212S probably benign Het
Abcd2 G T 15: 91,151,673 T663K probably damaging Het
Bud23 C T 5: 135,063,887 R28H probably benign Het
Celsr2 T C 3: 108,412,940 Y852C probably damaging Het
Dll1 C A 17: 15,373,604 R167L probably benign Het
Hmgxb4 A G 8: 75,024,162 T538A probably damaging Het
Hrh4 T C 18: 13,022,469 V355A possibly damaging Het
Hrnr A T 3: 93,322,851 E132V probably benign Het
Ighv7-1 A T 12: 113,896,951 probably benign Het
Kcnu1 A T 8: 25,892,077 Q485L probably null Het
Lrp1b T A 2: 40,725,514 M3626L probably benign Het
Magea6 G T X: 154,924,627 C144* probably null Het
Map1a G T 2: 121,305,060 R1881L probably damaging Het
Naip2 T A 13: 100,161,620 Y636F probably damaging Het
Olfr791 T A 10: 129,526,403 F59I probably benign Het
Prg4 A G 1: 150,450,088 probably benign Het
Ptpn4 T G 1: 119,659,912 Q900H probably damaging Het
Ralgps1 A G 2: 33,172,416 probably null Het
Rasgrp4 C T 7: 29,146,025 A381V possibly damaging Het
Selenbp1 A T 3: 94,937,310 K93* probably null Het
Skint5 T A 4: 113,667,218 K855N unknown Het
Tssk4 T C 14: 55,650,428 V27A possibly damaging Het
Ttc39a C A 4: 109,433,022 Q310K possibly damaging Het
Utp18 C T 11: 93,875,958 V276I probably damaging Het
Vmn2r45 C A 7: 8,483,604 L228F probably damaging Het
Other mutations in Olfr536
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Olfr536 APN 7 140504184 missense probably damaging 1.00
IGL02065:Olfr536 APN 7 140504164 missense probably benign 0.02
IGL02812:Olfr536 APN 7 140503620 missense probably damaging 0.99
IGL02896:Olfr536 APN 7 140504055 splice site probably null
R2440:Olfr536 UTSW 7 140503552 missense probably benign 0.25
R3110:Olfr536 UTSW 7 140503919 missense probably damaging 0.99
R3112:Olfr536 UTSW 7 140503919 missense probably damaging 0.99
R4349:Olfr536 UTSW 7 140504357 nonsense probably null
R4660:Olfr536 UTSW 7 140504020 missense probably benign 0.03
R4827:Olfr536 UTSW 7 140503670 missense probably damaging 0.96
R5606:Olfr536 UTSW 7 140503800 missense probably damaging 1.00
R5607:Olfr536 UTSW 7 140504405 missense probably benign 0.10
R7102:Olfr536 UTSW 7 140504316 missense probably benign 0.05
R7354:Olfr536 UTSW 7 140504186 missense probably damaging 1.00
R8081:Olfr536 UTSW 7 140504456 start codon destroyed probably null 1.00
R8095:Olfr536 UTSW 7 140504279 missense probably damaging 1.00
R8520:Olfr536 UTSW 7 140504402 missense probably benign 0.14
Z1088:Olfr536 UTSW 7 140503805 missense probably benign 0.00
Posted On2016-08-02