Incidental Mutation 'IGL03270:Olfr1223'
ID415216
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1223
Ensembl Gene ENSMUSG00000075100
Gene Nameolfactory receptor 1223
SynonymsMOR233-10, GA_x6K02T2Q125-50623664-50622729
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL03270
Quality Score
Status
Chromosome2
Chromosomal Location89143508-89151560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89144745 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000097381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099793] [ENSMUST00000217342]
Predicted Effect probably damaging
Transcript: ENSMUST00000099793
AA Change: F93L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: F93L

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217342
AA Change: F93L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctnnd1 A T 2: 84,609,727 probably null Het
Fcmr A T 1: 130,876,042 R194S possibly damaging Het
Fmo2 A G 1: 162,882,026 F264S probably damaging Het
Gfra2 A G 14: 70,925,904 D209G possibly damaging Het
Gm4951 A G 18: 60,245,476 K28E probably benign Het
Hsd17b7 C T 1: 169,953,080 E320K probably damaging Het
Kifap3 T A 1: 163,848,733 M419K probably benign Het
Lgr6 A C 1: 134,997,704 I133S probably damaging Het
Med13l A C 5: 118,731,430 N811T probably damaging Het
Olfr420 T A 1: 174,159,553 M260K probably benign Het
Pappa2 T A 1: 158,765,067 D1580V possibly damaging Het
Ppp4r2 T G 6: 100,863,125 N72K probably damaging Het
Prr27 T C 5: 87,835,678 probably benign Het
Rad51d A G 11: 82,881,594 probably benign Het
Rel T C 11: 23,742,584 N483S probably benign Het
Scn9a A G 2: 66,484,014 F1776L probably damaging Het
Slco5a1 G A 1: 12,872,028 T798I probably benign Het
Ttn T C 2: 76,776,467 D18033G probably damaging Het
Vmn1r46 T A 6: 89,976,774 S202T probably damaging Het
Vmn2r110 T G 17: 20,583,516 M266L probably benign Het
Vmn2r26 A T 6: 124,050,819 D506V probably benign Het
Zbtb1 T C 12: 76,385,515 S92P possibly damaging Het
Other mutations in Olfr1223
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Olfr1223 APN 2 89144231 missense possibly damaging 0.55
IGL01560:Olfr1223 APN 2 89144603 missense probably damaging 1.00
IGL01817:Olfr1223 APN 2 89144358 missense probably benign 0.01
IGL02669:Olfr1223 APN 2 89144220 nonsense probably null
R0062:Olfr1223 UTSW 2 89144622 missense possibly damaging 0.95
R0062:Olfr1223 UTSW 2 89144622 missense possibly damaging 0.95
R0304:Olfr1223 UTSW 2 89144764 nonsense probably null
R1651:Olfr1223 UTSW 2 89145002 missense probably damaging 1.00
R1971:Olfr1223 UTSW 2 89144734 nonsense probably null
R2006:Olfr1223 UTSW 2 89144897 missense probably benign 0.21
R2101:Olfr1223 UTSW 2 89144957 missense probably benign 0.03
R2410:Olfr1223 UTSW 2 89144555 missense possibly damaging 0.88
R3683:Olfr1223 UTSW 2 89145020 start codon destroyed probably null 1.00
R3685:Olfr1223 UTSW 2 89145020 start codon destroyed probably null 1.00
R3939:Olfr1223 UTSW 2 89144130 nonsense probably null
R6162:Olfr1223 UTSW 2 89144770 missense probably benign 0.00
Posted On2016-08-02