Incidental Mutation 'IGL02086:Or56b2'
ID 285456
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or56b2
Ensembl Gene ENSMUSG00000073920
Gene Name olfactory receptor family 56 subfamily B member 2
Synonyms Olfr661, MOR40-4, GA_x6K02T2PBJ9-7316375-7317334
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02086
Quality Score
Status
Chromosome 7
Chromosomal Location 104337224-104338183 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104337634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 137 (R137S)
Ref Sequence ENSEMBL: ENSMUSP00000151208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098168] [ENSMUST00000214876]
AlphaFold Q99NH4
Predicted Effect probably benign
Transcript: ENSMUST00000098168
AA Change: R137S

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000095770
Gene: ENSMUSG00000073920
AA Change: R137S

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 5.9e-74 PFAM
Pfam:7TM_GPCR_Srsx 41 312 2e-9 PFAM
Pfam:7tm_1 47 297 1.1e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211165
Predicted Effect probably benign
Transcript: ENSMUST00000214876
AA Change: R137S

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215864
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 19,003,623 (GRCm39) probably benign Het
Abi3bp A G 16: 56,462,930 (GRCm39) probably benign Het
Asb4 T C 6: 5,398,386 (GRCm39) I117T probably benign Het
Birc6 T G 17: 74,946,822 (GRCm39) L2847R probably damaging Het
C2cd2 A G 16: 97,691,208 (GRCm39) probably benign Het
Ccdc77 C A 6: 120,316,119 (GRCm39) C186F possibly damaging Het
Cd300ld2 T A 11: 114,903,384 (GRCm39) probably benign Het
Cd55b A T 1: 130,345,919 (GRCm39) D166E probably benign Het
Cfap100 A G 6: 90,390,954 (GRCm39) F8L probably damaging Het
Col2a1 C T 15: 97,884,618 (GRCm39) probably null Het
Dbf4 A G 5: 8,453,189 (GRCm39) I270T probably benign Het
Dkk3 T C 7: 111,748,236 (GRCm39) S123G probably benign Het
Ep400 A G 5: 110,824,809 (GRCm39) probably benign Het
Fam184a A G 10: 53,575,351 (GRCm39) I30T probably damaging Het
Fam20a T C 11: 109,564,239 (GRCm39) I505V probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fcho1 T C 8: 72,169,444 (GRCm39) E154G probably damaging Het
Klhdc1 A G 12: 69,329,958 (GRCm39) I362M probably benign Het
Knl1 A T 2: 118,931,255 (GRCm39) E1990D probably benign Het
Lancl2 A G 6: 57,711,024 (GRCm39) Y394C probably damaging Het
Lgi2 G A 5: 52,723,299 (GRCm39) S50F probably damaging Het
Map2k7 A G 8: 4,288,950 (GRCm39) E14G probably damaging Het
Mga A G 2: 119,754,517 (GRCm39) I1009V probably damaging Het
Nat9 C A 11: 115,074,234 (GRCm39) probably null Het
Nek2 G A 1: 191,563,401 (GRCm39) A422T probably benign Het
Nfkbiz A T 16: 55,636,034 (GRCm39) L509Q probably damaging Het
Pgap1 T A 1: 54,587,147 (GRCm39) Q143L probably damaging Het
Pkd1l3 C T 8: 110,392,217 (GRCm39) T1937I probably damaging Het
Pou1f1 A G 16: 65,326,784 (GRCm39) E128G probably damaging Het
Ppfia3 T C 7: 44,989,996 (GRCm39) probably benign Het
Prkd1 T C 12: 50,434,046 (GRCm39) I566V probably benign Het
Psd2 A G 18: 36,138,959 (GRCm39) R528G probably damaging Het
Ptprg G T 14: 12,110,080 (GRCm38) E263* probably null Het
Radil T C 5: 142,529,576 (GRCm39) D40G probably benign Het
Ryr2 T A 13: 11,750,442 (GRCm39) Y1943F probably damaging Het
Slc30a4 C T 2: 122,543,947 (GRCm39) probably benign Het
Slc31a1 A T 4: 62,306,241 (GRCm39) T120S possibly damaging Het
Snrpe A G 1: 133,537,487 (GRCm39) probably benign Het
Stx3 G T 19: 11,796,046 (GRCm39) probably benign Het
Thoc2l A G 5: 104,666,867 (GRCm39) E463G possibly damaging Het
Ufsp1 T A 5: 137,293,178 (GRCm39) C43S probably damaging Het
Vac14 T A 8: 111,379,950 (GRCm39) M416K possibly damaging Het
Vmn1r81 A C 7: 11,993,792 (GRCm39) V272G possibly damaging Het
Vmn2r107 T A 17: 20,578,062 (GRCm39) I457K probably benign Het
Vmn2r72 A T 7: 85,387,374 (GRCm39) V730E probably benign Het
Vmn2r9 T C 5: 108,995,433 (GRCm39) Y405C probably damaging Het
Zcchc17 T C 4: 130,210,440 (GRCm39) *242W probably null Het
Zfp503 T C 14: 22,037,354 (GRCm39) K83R possibly damaging Het
Other mutations in Or56b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Or56b2 APN 7 104,337,588 (GRCm39) missense probably benign 0.00
IGL01578:Or56b2 APN 7 104,338,052 (GRCm39) missense probably benign 0.01
IGL01595:Or56b2 APN 7 104,337,285 (GRCm39) missense possibly damaging 0.78
IGL01732:Or56b2 APN 7 104,337,543 (GRCm39) missense possibly damaging 0.64
IGL02421:Or56b2 APN 7 104,337,740 (GRCm39) missense probably benign 0.00
IGL02874:Or56b2 APN 7 104,337,230 (GRCm39) missense probably benign 0.16
IGL03120:Or56b2 APN 7 104,337,609 (GRCm39) missense probably benign 0.28
R0735:Or56b2 UTSW 7 104,338,026 (GRCm39) missense probably damaging 0.97
R1246:Or56b2 UTSW 7 104,337,371 (GRCm39) missense possibly damaging 0.69
R1654:Or56b2 UTSW 7 104,337,420 (GRCm39) missense probably benign 0.12
R1994:Or56b2 UTSW 7 104,337,690 (GRCm39) missense probably benign 0.12
R3686:Or56b2 UTSW 7 104,337,599 (GRCm39) missense probably benign 0.00
R5140:Or56b2 UTSW 7 104,338,107 (GRCm39) missense probably benign 0.01
R5627:Or56b2 UTSW 7 104,337,377 (GRCm39) missense probably benign 0.02
R6338:Or56b2 UTSW 7 104,337,378 (GRCm39) missense possibly damaging 0.53
R8810:Or56b2 UTSW 7 104,337,387 (GRCm39) missense probably damaging 0.97
R8954:Or56b2 UTSW 7 104,337,900 (GRCm39) nonsense probably null
R9261:Or56b2 UTSW 7 104,337,260 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16