Incidental Mutation 'IGL03380:Or5b109'
ID 420636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b109
Ensembl Gene ENSMUSG00000096365
Gene Name olfactory receptor family 5 subfamily B member 109
Synonyms Olfr1463, GA_x6K02T2RE5P-3560863-3561795, MOR202-29P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL03380
Quality Score
Status
Chromosome 19
Chromosomal Location 13211616-13212548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13212365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 250 (F250L)
Ref Sequence ENSEMBL: ENSMUSP00000146566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064102] [ENSMUST00000207246]
AlphaFold Q7TQR3
Predicted Effect probably benign
Transcript: ENSMUST00000064102
AA Change: F250L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000070872
Gene: ENSMUSG00000096365
AA Change: F250L

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 1e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 3.2e-6 PFAM
Pfam:7tm_1 42 291 1.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207246
AA Change: F250L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Drc3 A G 11: 60,268,731 (GRCm39) E307G probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Or5b109
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01131:Or5b109 APN 19 13,212,103 (GRCm39) missense probably benign 0.01
IGL02596:Or5b109 APN 19 13,211,763 (GRCm39) missense probably damaging 1.00
IGL03030:Or5b109 APN 19 13,212,418 (GRCm39) missense probably damaging 0.98
IGL03232:Or5b109 APN 19 13,212,341 (GRCm39) nonsense probably null
PIT4382001:Or5b109 UTSW 19 13,212,259 (GRCm39) missense probably damaging 1.00
PIT4519001:Or5b109 UTSW 19 13,212,216 (GRCm39) missense probably benign 0.00
R0652:Or5b109 UTSW 19 13,211,899 (GRCm39) missense possibly damaging 0.80
R0658:Or5b109 UTSW 19 13,212,424 (GRCm39) missense possibly damaging 0.94
R1181:Or5b109 UTSW 19 13,212,195 (GRCm39) missense probably benign 0.07
R1239:Or5b109 UTSW 19 13,212,040 (GRCm39) missense possibly damaging 0.80
R1316:Or5b109 UTSW 19 13,211,803 (GRCm39) missense probably damaging 1.00
R1465:Or5b109 UTSW 19 13,212,265 (GRCm39) missense possibly damaging 0.61
R1465:Or5b109 UTSW 19 13,212,265 (GRCm39) missense possibly damaging 0.61
R1900:Or5b109 UTSW 19 13,212,277 (GRCm39) missense possibly damaging 0.54
R1927:Or5b109 UTSW 19 13,212,393 (GRCm39) missense probably damaging 1.00
R2239:Or5b109 UTSW 19 13,212,085 (GRCm39) missense probably benign 0.00
R2380:Or5b109 UTSW 19 13,212,085 (GRCm39) missense probably benign 0.00
R3760:Or5b109 UTSW 19 13,212,250 (GRCm39) missense probably damaging 1.00
R3765:Or5b109 UTSW 19 13,211,795 (GRCm39) missense probably damaging 1.00
R3835:Or5b109 UTSW 19 13,212,103 (GRCm39) missense probably benign 0.18
R4690:Or5b109 UTSW 19 13,212,132 (GRCm39) missense possibly damaging 0.91
R4907:Or5b109 UTSW 19 13,212,157 (GRCm39) missense probably damaging 1.00
R5444:Or5b109 UTSW 19 13,212,322 (GRCm39) missense probably benign 0.28
R5465:Or5b109 UTSW 19 13,212,052 (GRCm39) missense probably benign 0.00
R6083:Or5b109 UTSW 19 13,211,889 (GRCm39) missense probably benign 0.01
R6259:Or5b109 UTSW 19 13,211,785 (GRCm39) missense probably damaging 0.98
R6324:Or5b109 UTSW 19 13,212,468 (GRCm39) missense possibly damaging 0.95
R6561:Or5b109 UTSW 19 13,212,394 (GRCm39) missense probably damaging 1.00
R6845:Or5b109 UTSW 19 13,211,997 (GRCm39) missense probably damaging 1.00
R7260:Or5b109 UTSW 19 13,212,388 (GRCm39) missense probably damaging 0.98
R7843:Or5b109 UTSW 19 13,211,901 (GRCm39) missense possibly damaging 0.48
R8560:Or5b109 UTSW 19 13,211,656 (GRCm39) missense possibly damaging 0.91
R8719:Or5b109 UTSW 19 13,211,836 (GRCm39) missense probably damaging 0.97
R9207:Or5b109 UTSW 19 13,212,400 (GRCm39) missense possibly damaging 0.60
R9273:Or5b109 UTSW 19 13,212,268 (GRCm39) missense probably damaging 1.00
R9607:Or5b109 UTSW 19 13,211,953 (GRCm39) missense
X0063:Or5b109 UTSW 19 13,211,999 (GRCm39) missense probably damaging 1.00
X0067:Or5b109 UTSW 19 13,212,061 (GRCm39) missense possibly damaging 0.95
Posted On 2016-08-02