Incidental Mutation 'IGL02503:Or5w18'
ID 296143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5w18
Ensembl Gene ENSMUSG00000068815
Gene Name olfactory receptor family 5 subfamily W member 18
Synonyms MOR177-14, Olfr1143, GA_x6K02T2Q125-49303473-49304405
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # IGL02503
Quality Score
Status
Chromosome 2
Chromosomal Location 87632735-87633679 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87632864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 44 (I44F)
Ref Sequence ENSEMBL: ENSMUSP00000088210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090708] [ENSMUST00000099852] [ENSMUST00000111568]
AlphaFold Q8VEU8
Predicted Effect probably benign
Transcript: ENSMUST00000090708
AA Change: I44F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000088210
Gene: ENSMUSG00000068815
AA Change: I44F

DomainStartEndE-ValueType
Pfam:7tm_4 35 312 2.6e-45 PFAM
Pfam:7tm_1 45 294 5.8e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099852
AA Change: I40F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000097438
Gene: ENSMUSG00000068815
AA Change: I40F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2e-41 PFAM
Pfam:7tm_1 41 290 4.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111568
AA Change: I40F

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107194
Gene: ENSMUSG00000068815
AA Change: I40F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-44 PFAM
Pfam:7tm_1 41 290 2.8e-16 PFAM
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,008,962 (GRCm39) W822R probably damaging Het
Ago4 A T 4: 126,390,598 (GRCm39) Y807* probably null Het
Alkbh8 G A 9: 3,347,852 (GRCm39) G215D probably damaging Het
Cfap57 C T 4: 118,426,545 (GRCm39) probably null Het
Cspg4 G A 9: 56,804,687 (GRCm39) V1833M probably damaging Het
Cyp4f17 T C 17: 32,743,940 (GRCm39) probably null Het
Dapk1 T A 13: 60,909,621 (GRCm39) Y1411* probably null Het
Dmrtc1b T A X: 101,758,366 (GRCm39) S199T possibly damaging Het
Elk4 A G 1: 131,942,277 (GRCm39) N50D probably damaging Het
Filip1l T A 16: 57,391,938 (GRCm39) V604E probably benign Het
Fmo3 A T 1: 162,796,433 (GRCm39) H46Q probably benign Het
Fndc1 T A 17: 7,990,348 (GRCm39) Y1116F unknown Het
Fpr-rs3 T A 17: 20,844,817 (GRCm39) N108I probably damaging Het
Glmn A T 5: 107,710,644 (GRCm39) M316K probably damaging Het
Gm5591 C A 7: 38,219,433 (GRCm39) R480I probably damaging Het
Gm8122 G T 14: 43,092,645 (GRCm39) R39S unknown Het
Gprasp1 T A X: 134,703,279 (GRCm39) Y1157* probably null Het
H2bc21 A G 3: 96,128,539 (GRCm39) T20A probably benign Het
Hsf1 T C 15: 76,382,870 (GRCm39) L370P probably benign Het
Iqsec1 T A 6: 90,645,770 (GRCm39) I809F probably damaging Het
Itsn1 G T 16: 91,686,092 (GRCm39) M54I possibly damaging Het
Klra2 T C 6: 131,207,057 (GRCm39) N184S probably benign Het
Lifr T A 15: 7,215,104 (GRCm39) V737E probably damaging Het
Lrpprc T C 17: 85,033,767 (GRCm39) T1037A probably benign Het
Map3k13 A T 16: 21,727,454 (GRCm39) I439F possibly damaging Het
Megf8 T C 7: 25,062,988 (GRCm39) V2448A possibly damaging Het
Mthfd1l T A 10: 4,033,824 (GRCm39) V737D probably damaging Het
Mtm1 A G X: 70,343,276 (GRCm39) T386A probably damaging Het
Muc5b T C 7: 141,421,404 (GRCm39) V4298A probably benign Het
Or10ag2 T G 2: 87,248,636 (GRCm39) F81L probably benign Het
Or8k21 C T 2: 86,144,983 (GRCm39) G216R possibly damaging Het
Plch1 A G 3: 63,605,285 (GRCm39) S1531P probably damaging Het
Poc1b T A 10: 98,980,210 (GRCm39) probably benign Het
Rictor T A 15: 6,815,924 (GRCm39) N1065K probably benign Het
Rpsa A G 9: 119,957,659 (GRCm39) E35G possibly damaging Het
Scfd1 T A 12: 51,469,704 (GRCm39) D416E possibly damaging Het
Sdad1 A T 5: 92,449,661 (GRCm39) probably benign Het
Skor1 A G 9: 63,053,397 (GRCm39) S191P probably damaging Het
Slc28a2 T C 2: 122,288,693 (GRCm39) F600L probably benign Het
Tmem229b-ps A G 10: 53,351,250 (GRCm39) noncoding transcript Het
Top2b A G 14: 16,407,163 (GRCm38) M678V possibly damaging Het
Ttn T C 2: 76,617,107 (GRCm39) N8092S probably damaging Het
Ttn C T 2: 76,572,033 (GRCm39) V26287I probably damaging Het
Tulp4 T A 17: 6,263,666 (GRCm39) I345N probably damaging Het
U2surp C T 9: 95,384,622 (GRCm39) V21I probably benign Het
Ubr5 T C 15: 38,018,564 (GRCm39) T859A possibly damaging Het
Ubr5 T C 15: 38,018,558 (GRCm39) K861E probably damaging Het
Unc13d A G 11: 115,959,628 (GRCm39) V617A possibly damaging Het
Vmn2r10 T C 5: 109,151,341 (GRCm39) Y91C probably damaging Het
Vmn2r120 T A 17: 57,816,385 (GRCm39) I657F probably benign Het
Wwc2 T C 8: 48,302,418 (GRCm39) R931G unknown Het
Other mutations in Or5w18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Or5w18 APN 2 87,633,544 (GRCm39) nonsense probably null
IGL01670:Or5w18 APN 2 87,633,224 (GRCm39) missense probably benign 0.10
R0316:Or5w18 UTSW 2 87,633,525 (GRCm39) missense probably damaging 0.98
R1381:Or5w18 UTSW 2 87,633,480 (GRCm39) missense probably damaging 1.00
R1496:Or5w18 UTSW 2 87,633,212 (GRCm39) missense probably benign 0.00
R1753:Or5w18 UTSW 2 87,633,106 (GRCm39) missense probably benign 0.06
R2013:Or5w18 UTSW 2 87,632,847 (GRCm39) missense probably damaging 0.97
R2370:Or5w18 UTSW 2 87,633,159 (GRCm39) missense probably benign 0.35
R3810:Or5w18 UTSW 2 87,633,396 (GRCm39) missense possibly damaging 0.90
R3812:Or5w18 UTSW 2 87,633,396 (GRCm39) missense possibly damaging 0.90
R3909:Or5w18 UTSW 2 87,633,031 (GRCm39) missense probably benign
R4227:Or5w18 UTSW 2 87,633,219 (GRCm39) missense probably damaging 0.97
R5753:Or5w18 UTSW 2 87,633,596 (GRCm39) missense probably benign 0.05
R6516:Or5w18 UTSW 2 87,633,114 (GRCm39) missense possibly damaging 0.81
R9101:Or5w18 UTSW 2 87,632,924 (GRCm39) missense probably damaging 1.00
R9144:Or5w18 UTSW 2 87,633,482 (GRCm39) missense probably benign 0.02
Z1177:Or5w18 UTSW 2 87,633,572 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16