Incidental Mutation 'IGL02896:Olfr536'
ID363394
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 #IGL02896
Quality Score
Status
Chromosome7
Chromosomal Location140500849-140507396 bp(-) (GRCm38)
Type of Mutationsplice site (171 bp from exon)
DNA Base Change (assembly) T to C at 140504055 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064392] [ENSMUST00000209873] [ENSMUST00000215340] [ENSMUST00000215768]
Predicted Effect probably damaging
Transcript: ENSMUST00000064392
AA Change: M135V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067699
Gene: ENSMUSG00000052508
AA Change: M135V

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 null
Transcript: ENSMUST00000209873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211326
Predicted Effect probably damaging
Transcript: ENSMUST00000215340
AA Change: M135V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215768
AA Change: M135V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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
4933402J07Rik A G 8: 87,589,020 D246G probably damaging Het
Adcy2 A G 13: 68,727,872 S504P probably damaging Het
Adgrv1 A T 13: 81,520,739 I2566K probably damaging Het
Als2 A G 1: 59,183,787 V1108A probably benign Het
Atad2b T A 12: 4,958,151 F466I probably damaging Het
Cyp2a22 T C 7: 26,936,461 M226V probably damaging Het
D5Ertd579e T C 5: 36,613,982 D1023G possibly damaging Het
D630003M21Rik T C 2: 158,217,285 I232V probably benign Het
Dolpp1 T C 2: 30,396,230 S114P probably damaging Het
Fars2 T A 13: 36,204,842 S105T probably benign Het
Fndc7 T C 3: 108,862,931 I560V probably benign Het
Gcn1l1 T C 5: 115,619,648 probably benign Het
Gm5134 T C 10: 75,974,224 L113P possibly damaging Het
Hipk2 G T 6: 38,698,447 H1066Q probably damaging Het
Katnb1 A G 8: 95,096,028 probably benign Het
Lrrd1 T A 5: 3,851,473 S593T probably benign Het
Mastl T C 2: 23,131,767 R713G probably damaging Het
Mrgpra6 T A 7: 47,188,907 D181V probably benign Het
Mroh7 C T 4: 106,699,816 V828I possibly damaging Het
Nbeal2 A G 9: 110,639,292 probably null Het
Nckap5l G T 15: 99,427,210 Q471K possibly damaging Het
Olfr262 A T 19: 12,240,989 L224* probably null Het
Olfr344 A T 2: 36,569,205 L202F possibly damaging Het
Papd4 A T 13: 93,168,437 N280K probably damaging Het
Pfn4 A G 12: 4,775,451 N96S probably benign Het
Ppp1r3c G A 19: 36,733,465 P302S probably benign Het
Senp2 T G 16: 22,018,368 Y122* probably null Het
Slc5a7 C A 17: 54,293,017 G123* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Th C T 7: 142,895,431 R289Q probably damaging Het
Tigit C T 16: 43,662,198 V58I probably benign Het
Tldc1 T C 8: 119,762,425 D373G probably damaging Het
Ush1c C A 7: 46,198,415 V810L probably benign Het
Vmn2r120 C A 17: 57,509,008 K782N 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
IGL03281:Olfr536 APN 7 140503800 missense probably damaging 1.00
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 On2015-12-18