Incidental Mutation 'IGL02317:Or5m3b'
ID 288053
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5m3b
Ensembl Gene ENSMUSG00000045392
Gene Name olfactory receptor family 5 subfamily M member 3B
Synonyms GA_x6K02T2Q125-47516301-47517233, Olfr1033, MOR199-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02317
Quality Score
Status
Chromosome 2
Chromosomal Location 85850984-85875152 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85871913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 85 (S85P)
Ref Sequence ENSEMBL: ENSMUSP00000151539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111589] [ENSMUST00000213496] [ENSMUST00000213774] [ENSMUST00000213865] [ENSMUST00000214546] [ENSMUST00000215682] [ENSMUST00000218397]
AlphaFold Q8VFK5
Predicted Effect probably damaging
Transcript: ENSMUST00000111589
AA Change: S85P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107216
Gene: ENSMUSG00000042796
AA Change: S85P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7tm_1 39 288 3.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213496
Predicted Effect probably benign
Transcript: ENSMUST00000213774
Predicted Effect probably damaging
Transcript: ENSMUST00000213865
AA Change: S85P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214546
AA Change: S85P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215682
AA Change: S85P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000218397
AA Change: S85P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.2397 question?
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
1700019M22Rik T C 12: 96,013,780 (GRCm39) noncoding transcript Het
Aadacl2fm3 A G 3: 59,784,408 (GRCm39) N294D probably benign Het
Aak1 C T 6: 86,933,282 (GRCm39) P418S possibly damaging Het
Abca5 T A 11: 110,218,587 (GRCm39) Q93L probably benign Het
Arhgap22 G T 14: 33,081,230 (GRCm39) V209L probably damaging Het
Atp6v1h G T 1: 5,154,693 (GRCm39) R7L possibly damaging Het
Ccdc86 T C 19: 10,920,556 (GRCm39) Q420R possibly damaging Het
Cep85 C T 4: 133,883,122 (GRCm39) G256R probably damaging Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Dck T C 5: 88,921,942 (GRCm39) Y135H probably damaging Het
Dicer1 T C 12: 104,663,279 (GRCm39) E1434G probably damaging Het
Dst C T 1: 34,334,244 (GRCm39) T4824I probably damaging Het
Fam20c G A 5: 138,792,115 (GRCm39) R404H probably damaging Het
Fat1 G A 8: 45,478,855 (GRCm39) A2611T probably benign Het
Fbxl13 C T 5: 21,727,232 (GRCm39) C555Y probably benign Het
Gprc6a C A 10: 51,497,049 (GRCm39) R323L probably benign Het
Grik2 A G 10: 49,298,711 (GRCm39) F50L probably benign Het
Ibsp A G 5: 104,450,332 (GRCm39) Y50C probably damaging Het
Il16 T A 7: 83,316,097 (GRCm39) H437L probably damaging Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Jph1 T C 1: 17,074,147 (GRCm39) T624A probably benign Het
Lama5 T C 2: 179,833,112 (GRCm39) Y1574C probably damaging Het
Lrrc26 A G 2: 25,180,314 (GRCm39) N105S probably damaging Het
Megf8 C A 7: 25,063,213 (GRCm39) T2523K probably damaging Het
Nckap1l A G 15: 103,370,005 (GRCm39) I135V probably benign Het
Oma1 A G 4: 103,176,234 (GRCm39) probably benign Het
Opa1 T G 16: 29,433,984 (GRCm39) probably null Het
Or13j1 T C 4: 43,706,172 (GRCm39) Y132C probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rab11b C T 17: 33,968,790 (GRCm39) A43T probably damaging Het
Rabl2 A T 15: 89,468,492 (GRCm39) N133K probably damaging Het
Scn10a C T 9: 119,467,621 (GRCm39) V840I probably benign Het
Spata31d1b T C 13: 59,865,854 (GRCm39) S1001P probably damaging Het
Tbc1d8 T C 1: 39,415,985 (GRCm39) E896G probably benign Het
Ube2o T C 11: 116,432,389 (GRCm39) E859G probably damaging Het
Vmn1r197 A G 13: 22,512,073 (GRCm39) probably benign Het
Vmn2r58 A G 7: 41,486,765 (GRCm39) I710T possibly damaging Het
Zmynd8 T C 2: 165,662,492 (GRCm39) T533A possibly damaging Het
Other mutations in Or5m3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01647:Or5m3b APN 2 85,872,441 (GRCm39) missense probably damaging 1.00
IGL01745:Or5m3b APN 2 85,872,381 (GRCm39) missense possibly damaging 0.74
IGL02400:Or5m3b APN 2 85,872,420 (GRCm39) missense probably benign 0.00
R0692:Or5m3b UTSW 2 85,872,516 (GRCm39) missense probably benign 0.00
R1629:Or5m3b UTSW 2 85,871,766 (GRCm39) missense probably damaging 0.99
R2105:Or5m3b UTSW 2 85,871,674 (GRCm39) missense probably damaging 0.97
R2288:Or5m3b UTSW 2 85,872,377 (GRCm39) nonsense probably null
R4451:Or5m3b UTSW 2 85,872,303 (GRCm39) missense probably damaging 1.00
R4512:Or5m3b UTSW 2 85,871,913 (GRCm39) missense probably damaging 0.99
R4878:Or5m3b UTSW 2 85,871,799 (GRCm39) missense probably benign 0.08
R5442:Or5m3b UTSW 2 85,872,295 (GRCm39) missense probably benign 0.29
R5867:Or5m3b UTSW 2 85,871,795 (GRCm39) missense probably benign 0.01
R7849:Or5m3b UTSW 2 85,871,949 (GRCm39) missense probably benign 0.00
R7881:Or5m3b UTSW 2 85,871,814 (GRCm39) missense probably benign 0.03
Z1088:Or5m3b UTSW 2 85,872,063 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16