Incidental Mutation 'IGL02203:Or5ap2'
ID 284386
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5ap2
Ensembl Gene ENSMUSG00000046975
Gene Name olfactory receptor family 5 subfamily AP member 2
Synonyms Olfr1020, MOR201-2, GA_x6K02T2Q125-47327964-47328917
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL02203
Quality Score
Status
Chromosome 2
Chromosomal Location 85679764-85680842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85680432 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Cysteine at position 212 (F212C)
Ref Sequence ENSEMBL: ENSMUSP00000150285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055840] [ENSMUST00000213515] [ENSMUST00000215347]
AlphaFold Q8VFK7
Predicted Effect probably damaging
Transcript: ENSMUST00000055840
AA Change: F212C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058242
Gene: ENSMUSG00000046975
AA Change: F212C

DomainStartEndE-ValueType
Pfam:7tm_4 38 315 5.6e-55 PFAM
Pfam:7tm_1 48 297 1.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213515
Predicted Effect probably damaging
Transcript: ENSMUST00000215347
AA Change: F212C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A C 3: 121,973,457 (GRCm39) D1095A probably benign Het
Acmsd T C 1: 127,666,342 (GRCm39) probably benign Het
Ap5m1 G A 14: 49,317,715 (GRCm39) G324D probably damaging Het
Api5 T G 2: 94,255,419 (GRCm39) N252T probably benign Het
Arhgap45 T A 10: 79,863,387 (GRCm39) C743* probably null Het
Clpb A G 7: 101,428,544 (GRCm39) T435A probably damaging Het
Csmd3 C T 15: 47,713,073 (GRCm39) probably null Het
Cyp3a11 T G 5: 145,805,976 (GRCm39) R130S probably damaging Het
Dennd4c A G 4: 86,721,173 (GRCm39) T612A probably benign Het
Dipk1a A G 5: 108,059,647 (GRCm39) L57S probably benign Het
Eng A G 2: 32,561,498 (GRCm39) I170V probably benign Het
Gfra2 T A 14: 71,204,524 (GRCm39) M74K possibly damaging Het
Gpr137c A G 14: 45,514,944 (GRCm39) T268A possibly damaging Het
Gramd2b T C 18: 56,612,026 (GRCm39) probably null Het
Il13ra2 A G X: 146,166,669 (GRCm39) L367P possibly damaging Het
Insr T C 8: 3,205,817 (GRCm39) H1324R probably benign Het
Lgi3 A G 14: 70,771,958 (GRCm39) E215G possibly damaging Het
Mst1r A G 9: 107,790,348 (GRCm39) T654A possibly damaging Het
Mst1r A G 9: 107,785,068 (GRCm39) Y242C probably damaging Het
Myo16 A T 8: 10,620,132 (GRCm39) Q1561L possibly damaging Het
Obscn A C 11: 58,973,134 (GRCm39) M2222R probably damaging Het
Or10ak13 A T 4: 118,639,626 (GRCm39) V52D possibly damaging Het
Or13p10 A T 4: 118,523,379 (GRCm39) I222F probably benign Het
Or2ag1 A G 7: 106,313,837 (GRCm39) I17T probably benign Het
Or8b50 A G 9: 38,518,719 (GRCm39) probably benign Het
Plch1 G A 3: 63,606,160 (GRCm39) P1239L possibly damaging Het
Ptprm A T 17: 67,260,118 (GRCm39) I499K probably damaging Het
Rabep2 G T 7: 126,039,566 (GRCm39) R331L possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sema7a A G 9: 57,864,889 (GRCm39) T397A probably benign Het
Sftpc A C 14: 70,759,309 (GRCm39) M124R probably damaging Het
Slc25a38 A G 9: 119,949,878 (GRCm39) Y198C probably damaging Het
Sppl2a A T 2: 126,746,861 (GRCm39) M489K possibly damaging Het
Swt1 T A 1: 151,246,377 (GRCm39) K849N probably benign Het
Ttc3 T A 16: 94,219,457 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,553,432 (GRCm39) V608A probably benign Het
Vwf A G 6: 125,619,369 (GRCm39) Y1349C probably damaging Het
Ybx3 A G 6: 131,345,371 (GRCm39) V265A probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Or5ap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0419:Or5ap2 UTSW 2 85,680,311 (GRCm39) nonsense probably null
R0771:Or5ap2 UTSW 2 85,680,338 (GRCm39) missense possibly damaging 0.95
R2001:Or5ap2 UTSW 2 85,680,744 (GRCm39) missense probably benign 0.09
R2002:Or5ap2 UTSW 2 85,680,744 (GRCm39) missense probably benign 0.09
R4865:Or5ap2 UTSW 2 85,680,060 (GRCm39) missense probably damaging 1.00
R4930:Or5ap2 UTSW 2 85,680,237 (GRCm39) missense probably benign 0.00
R6717:Or5ap2 UTSW 2 85,680,567 (GRCm39) missense probably damaging 1.00
R7124:Or5ap2 UTSW 2 85,680,254 (GRCm39) missense probably benign 0.22
R8068:Or5ap2 UTSW 2 85,680,150 (GRCm39) missense probably damaging 1.00
R8298:Or5ap2 UTSW 2 85,680,533 (GRCm39) missense probably damaging 1.00
R8676:Or5ap2 UTSW 2 85,680,246 (GRCm39) missense probably benign 0.03
R8927:Or5ap2 UTSW 2 85,679,918 (GRCm39) missense possibly damaging 0.91
R8928:Or5ap2 UTSW 2 85,679,918 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16