Incidental Mutation 'IGL03113:Or5o1'
ID 419269
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5o1
Ensembl Gene ENSMUSG00000067971
Gene Name olfactory receptor family 5 subfamily N member 1
Synonyms Olfr1321, MOR264-26, GA_x6K02T2Q64A-11768161-11767223
Accession Numbers
Essential gene? Not available question?
Stock # IGL03113
Quality Score
Status
Chromosome X
Chromosomal Location 48815850-48816809 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48815939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 291 (N291Y)
Ref Sequence ENSEMBL: ENSMUSP00000149462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088876] [ENSMUST00000215373]
AlphaFold Q7TQW4
Predicted Effect probably damaging
Transcript: ENSMUST00000088876
AA Change: N291Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086263
Gene: ENSMUSG00000067971
AA Change: N291Y

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 9.5e-53 PFAM
Pfam:7tm_1 46 295 4.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215373
AA Change: N291Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216611
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,105,568 (GRCm39) V241M probably benign Het
Arhgef10 T A 8: 15,004,505 (GRCm39) I91N probably damaging Het
Arhgef17 G A 7: 100,578,938 (GRCm39) T670I probably benign Het
Barhl1 T C 2: 28,805,468 (GRCm39) D75G probably benign Het
Capn13 T C 17: 73,638,108 (GRCm39) T432A probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc175 C A 12: 72,191,557 (GRCm39) V340L probably benign Het
Cdc5l A T 17: 45,744,348 (GRCm39) M5K possibly damaging Het
Cgn A G 3: 94,686,544 (GRCm39) F253L probably benign Het
Csmd1 T C 8: 16,078,712 (GRCm39) K2003R probably benign Het
Disp2 T A 2: 118,621,259 (GRCm39) probably null Het
Dnah7a T C 1: 53,472,163 (GRCm39) N3535D possibly damaging Het
Exoc3 G A 13: 74,341,232 (GRCm39) Q191* probably null Het
Fstl5 T A 3: 76,337,099 (GRCm39) Y219* probably null Het
Gad2 T A 2: 22,571,367 (GRCm39) L435Q probably benign Het
Gcnt3 A G 9: 69,941,983 (GRCm39) V195A probably damaging Het
Haus6 G A 4: 86,501,343 (GRCm39) Q843* probably null Het
Hivep2 T A 10: 14,006,395 (GRCm39) F998I probably damaging Het
Hsf5 A T 11: 87,548,190 (GRCm39) E624D probably benign Het
Klb A G 5: 65,540,813 (GRCm39) N969D probably benign Het
Klhl6 T A 16: 19,776,001 (GRCm39) S186C possibly damaging Het
Klk15 T C 7: 43,587,805 (GRCm39) F78L probably benign Het
Ldlr A G 9: 21,651,124 (GRCm39) E514G possibly damaging Het
Map9 T A 3: 82,267,285 (GRCm39) probably benign Het
Miga2 A T 2: 30,274,022 (GRCm39) I99F possibly damaging Het
Morc4 T C X: 138,758,605 (GRCm39) E189G probably benign Het
Nhlrc3 A T 3: 53,365,984 (GRCm39) Y170N possibly damaging Het
Or3a1b G A 11: 74,012,529 (GRCm39) R138Q probably benign Het
Or4c111 A G 2: 88,844,379 (GRCm39) F10L probably damaging Het
Or51b6b A T 7: 103,309,851 (GRCm39) V202D possibly damaging Het
Or52u1 A T 7: 104,237,940 (GRCm39) R310W probably benign Het
Or5w15 T C 2: 87,568,506 (GRCm39) Q54R probably benign Het
Or8g32 A C 9: 39,305,981 (GRCm39) K295T probably damaging Het
Pkd1l1 G A 11: 8,784,793 (GRCm39) T1997I probably benign Het
Poln A G 5: 34,274,206 (GRCm39) S377P probably benign Het
Rab22a T A 2: 173,503,265 (GRCm39) V26E probably damaging Het
Rhbdl3 T C 11: 80,244,439 (GRCm39) V382A possibly damaging Het
Slitrk3 G T 3: 72,957,723 (GRCm39) Q350K probably benign Het
Sult1d1 A T 5: 87,707,738 (GRCm39) Y127* probably null Het
Vmn1r73 A T 7: 11,490,527 (GRCm39) Y115F probably benign Het
Zfp128 T A 7: 12,624,314 (GRCm39) D227E probably benign Het
Other mutations in Or5o1
AlleleSourceChrCoordTypePredicted EffectPPH Score
X0023:Or5o1 UTSW X 48,816,688 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02