Incidental Mutation 'IGL01671:Or5b3'
ID 103482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b3
Ensembl Gene ENSMUSG00000063777
Gene Name olfactory receptor family 5 subfamily B member 3
Synonyms MOR202-11, Olfr1469, GA_x6K02T2RE5P-3743369-3744289
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL01671
Quality Score
Status
Chromosome 19
Chromosomal Location 13387935-13388864 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13388255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 107 (F107L)
Ref Sequence ENSEMBL: ENSMUSP00000150006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077538] [ENSMUST00000216910]
AlphaFold Q8VFW5
Predicted Effect probably benign
Transcript: ENSMUST00000077538
AA Change: F107L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076741
Gene: ENSMUSG00000063777
AA Change: F107L

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-47 PFAM
Pfam:7tm_1 42 290 2.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216910
AA Change: F107L

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdc7 C T 5: 107,131,111 (GRCm39) P529S probably damaging Het
Defb45 T C 2: 152,435,331 (GRCm39) K26E probably benign Het
Dnajb8 T C 6: 88,199,902 (GRCm39) L146S probably benign Het
Egln1 T C 8: 125,637,454 (GRCm39) D399G probably benign Het
Ephb1 A T 9: 101,873,986 (GRCm39) C563S probably damaging Het
Gad2 T A 2: 22,513,711 (GRCm39) Y49* probably null Het
Gga2 A G 7: 121,594,079 (GRCm39) S470P probably benign Het
Gm21276 G T 7: 38,464,151 (GRCm39) noncoding transcript Het
Gm3115 G A 14: 4,084,189 (GRCm38) C9Y probably benign Het
H2-M1 T C 17: 36,981,330 (GRCm39) E235G probably damaging Het
Hjv T C 3: 96,435,807 (GRCm39) V355A probably damaging Het
Hsp90b1 C T 10: 86,540,189 (GRCm39) G41S probably benign Het
Mccc1 T C 3: 36,018,609 (GRCm39) D575G probably benign Het
Metap2 T C 10: 93,707,340 (GRCm39) probably benign Het
Myh7 T C 14: 55,210,381 (GRCm39) T1775A probably damaging Het
Or2aj5 A G 16: 19,424,671 (GRCm39) I249T probably benign Het
Or8g21 A G 9: 38,906,149 (GRCm39) V194A probably benign Het
Pak5 T C 2: 135,958,293 (GRCm39) D265G possibly damaging Het
Pex1 A G 5: 3,674,088 (GRCm39) I793V probably benign Het
Prkdc A G 16: 15,485,609 (GRCm39) I479V possibly damaging Het
Rhcg A C 7: 79,248,299 (GRCm39) I435S probably benign Het
Slc9c1 A T 16: 45,380,678 (GRCm39) T535S probably benign Het
Stab2 T C 10: 86,805,141 (GRCm39) D279G possibly damaging Het
Wdr83 T C 8: 85,802,448 (GRCm39) probably benign Het
Other mutations in Or5b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Or5b3 APN 19 13,388,590 (GRCm39) missense probably benign 0.01
IGL01520:Or5b3 APN 19 13,388,114 (GRCm39) missense probably damaging 0.97
IGL02247:Or5b3 APN 19 13,388,831 (GRCm39) missense probably benign 0.01
IGL02297:Or5b3 APN 19 13,388,839 (GRCm39) missense probably benign 0.00
IGL02417:Or5b3 APN 19 13,388,259 (GRCm39) missense possibly damaging 0.52
IGL02442:Or5b3 APN 19 13,388,351 (GRCm39) missense probably benign 0.00
IGL02989:Or5b3 APN 19 13,388,850 (GRCm39) missense probably benign
IGL03269:Or5b3 APN 19 13,388,792 (GRCm39) missense probably damaging 0.99
IGL02988:Or5b3 UTSW 19 13,388,826 (GRCm39) missense possibly damaging 0.75
R0707:Or5b3 UTSW 19 13,388,784 (GRCm39) missense probably benign 0.22
R1055:Or5b3 UTSW 19 13,388,754 (GRCm39) missense probably benign 0.10
R1102:Or5b3 UTSW 19 13,388,454 (GRCm39) missense probably damaging 1.00
R1946:Or5b3 UTSW 19 13,388,143 (GRCm39) missense possibly damaging 0.64
R2111:Or5b3 UTSW 19 13,388,307 (GRCm39) missense probably damaging 0.99
R4072:Or5b3 UTSW 19 13,388,299 (GRCm39) missense possibly damaging 0.49
R4073:Or5b3 UTSW 19 13,388,299 (GRCm39) missense possibly damaging 0.49
R4076:Or5b3 UTSW 19 13,388,299 (GRCm39) missense possibly damaging 0.49
R4726:Or5b3 UTSW 19 13,388,469 (GRCm39) missense probably damaging 1.00
R4939:Or5b3 UTSW 19 13,388,219 (GRCm39) missense probably benign 0.10
R5914:Or5b3 UTSW 19 13,388,326 (GRCm39) missense probably benign 0.31
R6003:Or5b3 UTSW 19 13,388,403 (GRCm39) missense probably benign 0.34
R6743:Or5b3 UTSW 19 13,387,957 (GRCm39) missense probably damaging 1.00
R6825:Or5b3 UTSW 19 13,388,514 (GRCm39) missense probably benign 0.01
R6826:Or5b3 UTSW 19 13,388,452 (GRCm39) missense probably benign 0.05
R6970:Or5b3 UTSW 19 13,388,792 (GRCm39) missense probably damaging 0.99
R7558:Or5b3 UTSW 19 13,388,355 (GRCm39) missense probably damaging 1.00
R7596:Or5b3 UTSW 19 13,388,511 (GRCm39) missense probably benign 0.01
R7923:Or5b3 UTSW 19 13,388,182 (GRCm39) missense probably benign 0.17
R8014:Or5b3 UTSW 19 13,388,175 (GRCm39) missense not run
R8506:Or5b3 UTSW 19 13,388,604 (GRCm39) missense possibly damaging 0.49
R8746:Or5b3 UTSW 19 13,388,092 (GRCm39) missense probably benign 0.44
R8803:Or5b3 UTSW 19 13,388,037 (GRCm39) missense probably damaging 0.99
R9112:Or5b3 UTSW 19 13,388,475 (GRCm39) missense probably benign 0.05
R9721:Or5b3 UTSW 19 13,388,334 (GRCm39) missense probably benign 0.17
Z1177:Or5b3 UTSW 19 13,388,083 (GRCm39) missense possibly damaging 0.94
Posted On 2014-01-21