Incidental Mutation 'IGL02442:Or5b112'
ID 293455
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b112
Ensembl Gene ENSMUSG00000096485
Gene Name olfactory receptor family 5 subfamily B member 112
Synonyms GA_x6K02T2RE5P-3672907-3673839, Olfr1466, MOR202-12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02442
Quality Score
Status
Chromosome 19
Chromosomal Location 13338862-13343572 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 13342120 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 121 (C121S)
Ref Sequence ENSEMBL: ENSMUSP00000147188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075868] [ENSMUST00000207124]
AlphaFold Q8VFW4
Predicted Effect probably benign
Transcript: ENSMUST00000075868
AA Change: C121S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000075265
Gene: ENSMUSG00000096485
AA Change: C121S

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 4.1e-49 PFAM
Pfam:7TM_GPCR_Srsx 36 306 1.9e-6 PFAM
Pfam:7tm_1 42 291 7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207124
AA Change: C121S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adap2 A G 11: 80,177,206 (GRCm38) E348G probably damaging Het
Ahnak G A 19: 9,004,016 (GRCm38) G888D probably damaging Het
Cdc45 C T 16: 18,798,729 (GRCm38) M200I probably benign Het
Cfap97d1 T C 11: 101,990,826 (GRCm38) V116A probably benign Het
Csde1 T C 3: 103,054,819 (GRCm38) C649R probably benign Het
Cym A C 3: 107,214,285 (GRCm38) D230E probably damaging Het
Dnah1 A T 14: 31,287,878 (GRCm38) I1911N probably damaging Het
Fat1 A G 8: 44,950,323 (GRCm38) H37R probably benign Het
Ggt6 T C 11: 72,436,806 (GRCm38) V146A possibly damaging Het
Glud1 T A 14: 34,335,438 (GRCm38) L54* probably null Het
Grk6 A G 13: 55,458,937 (GRCm38) probably benign Het
Gsta4 G A 9: 78,209,165 (GRCm38) V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 (GRCm38) V620M probably damaging Het
Hspe1 T C 1: 55,089,042 (GRCm38) probably benign Het
Icmt T C 4: 152,298,716 (GRCm38) V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 (GRCm38) probably benign Het
Lgals12 T C 19: 7,606,654 (GRCm38) probably benign Het
Lypla1 T C 1: 4,832,387 (GRCm38) probably benign Het
Map1b A T 13: 99,508,198 (GRCm38) W66R probably damaging Het
Matn3 T A 12: 8,967,678 (GRCm38) C443* probably null Het
Mup8 T A 4: 60,219,695 (GRCm38) R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 (GRCm38) K140R probably benign Het
Ndfip1 C T 18: 38,447,736 (GRCm38) S66L probably damaging Het
Neu1 A G 17: 34,934,469 (GRCm38) I323V probably benign Het
Nup205 A T 6: 35,190,068 (GRCm38) T341S probably benign Het
Or4f7 G A 2: 111,813,991 (GRCm38) T245I probably benign Het
Or5b3 T A 19: 13,410,987 (GRCm38) N139K probably benign Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 (GRCm38) S249T probably benign Het
Plekhg3 A T 12: 76,578,353 (GRCm38) Q1324L probably benign Het
Ppara T A 15: 85,801,143 (GRCm38) V431E probably benign Het
Prkaa1 T G 15: 5,176,888 (GRCm38) H408Q probably damaging Het
Sap25 T A 5: 137,641,995 (GRCm38) N108K probably benign Het
Setd5 A C 6: 113,110,380 (GRCm38) I81L possibly damaging Het
Sinhcaf A T 6: 148,928,507 (GRCm38) probably null Het
Sri T A 5: 8,062,411 (GRCm38) M78K probably damaging Het
Tyro3 A G 2: 119,808,868 (GRCm38) N352S probably benign Het
Ubr5 T A 15: 38,037,901 (GRCm38) E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 (GRCm38) V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 (GRCm38) V721D probably damaging Het
Vwa5a A G 9: 38,734,784 (GRCm38) M483V probably benign Het
Zfp786 T A 6: 47,821,367 (GRCm38) Q212H probably benign Het
Other mutations in Or5b112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02568:Or5b112 APN 19 13,342,219 (GRCm38) missense probably benign 0.08
IGL03073:Or5b112 APN 19 13,342,022 (GRCm38) missense probably benign 0.00
R0943:Or5b112 UTSW 19 13,341,793 (GRCm38) missense probably benign 0.00
R1301:Or5b112 UTSW 19 13,341,847 (GRCm38) missense probably benign 0.05
R1355:Or5b112 UTSW 19 13,342,518 (GRCm38) nonsense probably null
R1524:Or5b112 UTSW 19 13,342,122 (GRCm38) nonsense probably null
R1568:Or5b112 UTSW 19 13,342,175 (GRCm38) missense probably benign 0.14
R1993:Or5b112 UTSW 19 13,341,814 (GRCm38) missense possibly damaging 0.65
R2031:Or5b112 UTSW 19 13,342,406 (GRCm38) missense probably benign 0.18
R3693:Or5b112 UTSW 19 13,342,529 (GRCm38) missense possibly damaging 0.73
R3694:Or5b112 UTSW 19 13,342,529 (GRCm38) missense possibly damaging 0.73
R3853:Or5b112 UTSW 19 13,342,498 (GRCm38) missense possibly damaging 0.55
R5313:Or5b112 UTSW 19 13,342,065 (GRCm38) missense probably benign 0.07
R5467:Or5b112 UTSW 19 13,342,157 (GRCm38) missense probably damaging 1.00
R6060:Or5b112 UTSW 19 13,342,133 (GRCm38) missense probably benign 0.08
R7125:Or5b112 UTSW 19 13,341,739 (GRCm38) critical splice acceptor site probably null
R7591:Or5b112 UTSW 19 13,342,255 (GRCm38) missense probably benign 0.28
R9072:Or5b112 UTSW 19 13,341,874 (GRCm38) missense possibly damaging 0.80
R9073:Or5b112 UTSW 19 13,341,874 (GRCm38) missense possibly damaging 0.80
R9523:Or5b112 UTSW 19 13,342,484 (GRCm38) missense probably damaging 0.99
Z1177:Or5b112 UTSW 19 13,342,255 (GRCm38) missense probably benign 0.28
Posted On 2015-04-16