Incidental Mutation 'IGL02574:Or2n1b'
ID 299126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2n1b
Ensembl Gene ENSMUSG00000063240
Gene Name olfactory receptor family 2 subfamily N member 1B
Synonyms GA_x6K02T2PSCP-2597192-2598130, MOR256-6, Olfr133
Accession Numbers
Essential gene? Probably non essential (E-score: 0.246) question?
Stock # IGL02574
Quality Score
Status
Chromosome 17
Chromosomal Location 38459481-38460419 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38460280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 267 (T267I)
Ref Sequence ENSEMBL: ENSMUSP00000150597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113636] [ENSMUST00000173610] [ENSMUST00000215078] [ENSMUST00000215549]
AlphaFold Q8VG94
Predicted Effect possibly damaging
Transcript: ENSMUST00000113636
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109266
Gene: ENSMUSG00000063240
AA Change: T267I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 27 305 3.4e-7 PFAM
Pfam:7tm_4 31 308 6.1e-52 PFAM
Pfam:7tm_1 41 290 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173610
SMART Domains Protein: ENSMUSP00000133824
Gene: ENSMUSG00000063240

DomainStartEndE-ValueType
Pfam:7tm_1 55 109 3.3e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215078
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215549
AA Change: T267I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 42,916,919 (GRCm39) D409G probably damaging Het
AW551984 A C 9: 39,500,382 (GRCm39) L792R possibly damaging Het
Cep192 A G 18: 67,974,350 (GRCm39) E1151G probably damaging Het
Cfap44 C A 16: 44,301,746 (GRCm39) P1828Q probably damaging Het
Chid1 A T 7: 141,076,603 (GRCm39) probably benign Het
Col6a6 C A 9: 105,659,390 (GRCm39) L518F probably damaging Het
Ctsz C T 2: 174,270,891 (GRCm39) R201K probably benign Het
Diras1 T C 10: 80,858,119 (GRCm39) Y44C probably damaging Het
Grip1 T C 10: 119,778,818 (GRCm39) V159A probably damaging Het
Hpd T C 5: 123,317,420 (GRCm39) probably benign Het
Jag2 T C 12: 112,879,131 (GRCm39) N463S probably benign Het
Katnip A G 7: 125,428,925 (GRCm39) T516A possibly damaging Het
Kmt2a C A 9: 44,741,810 (GRCm39) probably benign Het
Myo5a A G 9: 75,118,429 (GRCm39) N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 (GRCm39) probably null Het
Or12d13 G T 17: 37,647,415 (GRCm39) A236E probably damaging Het
Pacsin2 G T 15: 83,272,864 (GRCm39) A154E possibly damaging Het
Plcd4 A T 1: 74,603,539 (GRCm39) I647F probably damaging Het
Prdm10 C T 9: 31,268,589 (GRCm39) A846V probably damaging Het
Ptgs2 G T 1: 149,978,526 (GRCm39) G213* probably null Het
Rcan3 C T 4: 135,152,706 (GRCm39) S5N probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Serpinc1 A G 1: 160,830,029 (GRCm39) N465S probably benign Het
Slc40a1 T C 1: 45,951,534 (GRCm39) I208V possibly damaging Het
Vcl C T 14: 20,979,643 (GRCm39) Q19* probably null Het
Other mutations in Or2n1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Or2n1b APN 17 38,459,746 (GRCm39) missense probably benign
IGL02486:Or2n1b APN 17 38,460,112 (GRCm39) missense probably damaging 1.00
PIT4243001:Or2n1b UTSW 17 38,460,394 (GRCm39) missense probably benign 0.06
PIT4504001:Or2n1b UTSW 17 38,460,060 (GRCm39) missense probably benign
R0726:Or2n1b UTSW 17 38,459,515 (GRCm39) missense probably damaging 1.00
R2242:Or2n1b UTSW 17 38,459,613 (GRCm39) missense possibly damaging 0.87
R2496:Or2n1b UTSW 17 38,460,322 (GRCm39) missense possibly damaging 0.91
R4579:Or2n1b UTSW 17 38,460,296 (GRCm39) missense probably damaging 1.00
R5085:Or2n1b UTSW 17 38,460,003 (GRCm39) missense probably damaging 1.00
R6273:Or2n1b UTSW 17 38,459,833 (GRCm39) missense possibly damaging 0.94
R6344:Or2n1b UTSW 17 38,459,611 (GRCm39) missense probably benign 0.01
R7046:Or2n1b UTSW 17 38,459,691 (GRCm39) missense probably benign 0.00
R7090:Or2n1b UTSW 17 38,460,385 (GRCm39) missense probably benign 0.33
R7213:Or2n1b UTSW 17 38,459,965 (GRCm39) missense probably benign 0.00
R8874:Or2n1b UTSW 17 38,459,623 (GRCm39) missense possibly damaging 0.78
R9185:Or2n1b UTSW 17 38,459,754 (GRCm39) missense probably damaging 1.00
R9334:Or2n1b UTSW 17 38,459,840 (GRCm39) missense probably benign 0.01
R9703:Or2n1b UTSW 17 38,459,856 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16