Incidental Mutation 'IGL03371:Or8k18'
ID 420282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k18
Ensembl Gene ENSMUSG00000075194
Gene Name olfactory receptor family 8 subfamily K member 18
Synonyms GA_x6K02T2Q125-47735396-47734470, MOR187-1, Olfr1049
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03371
Quality Score
Status
Chromosome 2
Chromosomal Location 86085109-86086035 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86085935 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 34 (I34N)
Ref Sequence ENSEMBL: ENSMUSP00000149360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099899] [ENSMUST00000216185]
AlphaFold A2ARZ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000099899
AA Change: I34N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097483
Gene: ENSMUSG00000075194
AA Change: I34N

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.9e-54 PFAM
Pfam:7tm_1 41 290 5.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216185
AA Change: I34N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
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
Agk C T 6: 40,371,576 (GRCm39) R358C probably benign Het
Ahnak G T 19: 8,981,592 (GRCm39) V959F possibly damaging Het
Aoc1 C T 6: 48,883,380 (GRCm39) R419C probably benign Het
Brf2 T C 8: 27,615,872 (GRCm39) D171G probably benign Het
Cnot1 T C 8: 96,501,344 (GRCm39) I75V possibly damaging Het
D430041D05Rik A G 2: 104,078,719 (GRCm39) V1199A probably damaging Het
Dpp9 G A 17: 56,494,377 (GRCm39) H861Y probably benign Het
Eddm3b G A 14: 51,354,422 (GRCm39) D137N probably damaging Het
Erich3 A T 3: 154,433,114 (GRCm39) I363F probably damaging Het
F13b T A 1: 139,434,674 (GRCm39) C147S probably damaging Het
Fam186b T C 15: 99,178,258 (GRCm39) E356G probably benign Het
Fat2 T A 11: 55,201,990 (GRCm39) R361S probably benign Het
Fat4 A T 3: 39,037,336 (GRCm39) I3663F possibly damaging Het
Haus3 C A 5: 34,323,687 (GRCm39) E308* probably null Het
Ifna11 A G 4: 88,738,412 (GRCm39) K73E probably benign Het
Itga10 A G 3: 96,562,104 (GRCm39) K664E possibly damaging Het
L3mbtl4 G A 17: 68,768,563 (GRCm39) V224M probably damaging Het
Mcf2l C A 8: 13,051,298 (GRCm39) A378D probably damaging Het
Mixl1 T C 1: 180,522,191 (GRCm39) N230S probably benign Het
Ncbp1 T A 4: 46,171,991 (GRCm39) C786* probably null Het
Nup153 C T 13: 46,836,628 (GRCm39) S1327N probably benign Het
Or4c12b A T 2: 89,647,509 (GRCm39) T280S possibly damaging Het
Osr2 C A 15: 35,301,000 (GRCm39) Y185* probably null Het
Ppp1r3b T C 8: 35,851,403 (GRCm39) F81L possibly damaging Het
Ppp3r2 T A 4: 49,681,630 (GRCm39) I107F probably damaging Het
Rin2 G A 2: 145,727,846 (GRCm39) probably benign Het
Rpap1 A T 2: 119,605,538 (GRCm39) probably benign Het
Slc12a4 A G 8: 106,677,137 (GRCm39) Y466H probably null Het
Slc25a40 C T 5: 8,477,442 (GRCm39) P9L probably benign Het
Slc27a1 T C 8: 72,038,052 (GRCm39) S567P probably benign Het
Sox8 G A 17: 25,786,414 (GRCm39) R430C probably damaging Het
Tacc2 T C 7: 130,227,791 (GRCm39) V1492A possibly damaging Het
Taf5l A G 8: 124,724,725 (GRCm39) S365P possibly damaging Het
Tet2 T A 3: 133,173,312 (GRCm39) H1650L possibly damaging Het
Tmem117 G A 15: 94,909,274 (GRCm39) R229H probably damaging Het
Ttc17 A G 2: 94,216,450 (GRCm39) L79P probably damaging Het
Usp54 A T 14: 20,639,436 (GRCm39) probably benign Het
Zfp455 T A 13: 67,355,066 (GRCm39) C111* probably null Het
Zmym4 A C 4: 126,808,881 (GRCm39) C389G possibly damaging Het
Other mutations in Or8k18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01659:Or8k18 APN 2 86,085,529 (GRCm39) nonsense probably null
IGL03378:Or8k18 APN 2 86,085,363 (GRCm39) missense possibly damaging 0.91
R1529:Or8k18 UTSW 2 86,085,585 (GRCm39) missense probably damaging 1.00
R1761:Or8k18 UTSW 2 86,085,383 (GRCm39) missense probably damaging 1.00
R1951:Or8k18 UTSW 2 86,085,440 (GRCm39) missense probably benign 0.01
R3499:Or8k18 UTSW 2 86,085,185 (GRCm39) missense possibly damaging 0.91
R3974:Or8k18 UTSW 2 86,085,935 (GRCm39) missense possibly damaging 0.88
R4094:Or8k18 UTSW 2 86,085,674 (GRCm39) missense probably damaging 1.00
R4191:Or8k18 UTSW 2 86,085,666 (GRCm39) missense probably benign 0.03
R4659:Or8k18 UTSW 2 86,085,357 (GRCm39) nonsense probably null
R6431:Or8k18 UTSW 2 86,085,702 (GRCm39) missense probably benign 0.01
R7006:Or8k18 UTSW 2 86,085,572 (GRCm39) missense probably benign 0.01
R7090:Or8k18 UTSW 2 86,085,420 (GRCm39) missense probably damaging 1.00
R7916:Or8k18 UTSW 2 86,085,202 (GRCm39) nonsense probably null
R8395:Or8k18 UTSW 2 86,085,878 (GRCm39) missense possibly damaging 0.94
R9087:Or8k18 UTSW 2 86,085,380 (GRCm39) missense probably benign
R9128:Or8k18 UTSW 2 86,086,022 (GRCm39) missense probably damaging 1.00
R9223:Or8k18 UTSW 2 86,085,544 (GRCm39) missense possibly damaging 0.50
R9786:Or8k18 UTSW 2 86,085,428 (GRCm39) missense probably benign 0.11
Posted On 2016-08-02