Incidental Mutation 'IGL01567:Or2f1b'
ID 91000
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2f1b
Ensembl Gene ENSMUSG00000095236
Gene Name olfactory receptor family 2 subfamily F member 1B
Synonyms 18A, GA_x6K02T2P3E9-4797841-4796888, Olfr38, MOR257-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL01567
Quality Score
Status
Chromosome 6
Chromosomal Location 42738988-42739941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42739661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 225 (I225T)
Ref Sequence ENSEMBL: ENSMUSP00000149726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074499] [ENSMUST00000215796]
AlphaFold Q8VGP4
Predicted Effect probably benign
Transcript: ENSMUST00000074499
AA Change: I225T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093654
Gene: ENSMUSG00000095236
AA Change: I225T

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.8e-52 PFAM
Pfam:7tm_1 41 290 5.4e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215796
AA Change: I225T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,071,628 (GRCm39) S317G probably benign Het
Akna T C 4: 63,300,087 (GRCm39) T652A probably benign Het
Anxa9 G A 3: 95,209,743 (GRCm39) probably benign Het
Bpifb4 T A 2: 153,789,198 (GRCm39) probably benign Het
Bptf A G 11: 106,949,600 (GRCm39) S2125P probably damaging Het
Capns2 C A 8: 93,628,634 (GRCm39) H174Q probably benign Het
Cd200 A C 16: 45,215,054 (GRCm39) L199R probably damaging Het
Clasp2 T C 9: 113,709,164 (GRCm39) V651A probably damaging Het
Cox18 G A 5: 90,365,447 (GRCm39) Q251* probably null Het
Depdc1a T C 3: 159,232,183 (GRCm39) S645P probably damaging Het
Dio3 T A 12: 110,245,861 (GRCm39) C66S possibly damaging Het
Dock9 A T 14: 121,890,496 (GRCm39) L258Q probably damaging Het
Ghrhr A G 6: 55,361,108 (GRCm39) D274G probably damaging Het
Gm5129 A G 5: 29,940,862 (GRCm39) probably benign Het
Grb7 A G 11: 98,345,776 (GRCm39) N518S probably damaging Het
Kdm5b G A 1: 134,530,278 (GRCm39) A430T probably damaging Het
Map10 C A 8: 126,398,232 (GRCm39) Q542K probably benign Het
Metap1 T C 3: 138,168,150 (GRCm39) T325A probably damaging Het
Ncan A T 8: 70,560,984 (GRCm39) M661K probably benign Het
Or51h5 A G 7: 102,577,623 (GRCm39) I263V probably benign Het
Otog T C 7: 45,926,039 (GRCm39) probably benign Het
Pip4k2b T C 11: 97,620,387 (GRCm39) D116G probably damaging Het
Rps15 T A 10: 80,129,643 (GRCm39) L86Q probably benign Het
Sfxn4 G T 19: 60,842,336 (GRCm39) T122K probably damaging Het
Slc4a3 T C 1: 75,527,526 (GRCm39) V165A probably damaging Het
Spmip7 A G 11: 11,465,015 (GRCm39) H122R possibly damaging Het
Synm A G 7: 67,384,980 (GRCm39) V452A probably damaging Het
Tdpoz1 T C 3: 93,578,013 (GRCm39) H257R possibly damaging Het
Tmem26 A G 10: 68,587,061 (GRCm39) T170A probably damaging Het
Wdfy4 T G 14: 32,873,618 (GRCm39) E230D probably benign Het
Other mutations in Or2f1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Or2f1b APN 6 42,739,046 (GRCm39) missense probably damaging 0.99
IGL02097:Or2f1b APN 6 42,739,394 (GRCm39) missense probably damaging 0.98
IGL02186:Or2f1b APN 6 42,739,880 (GRCm39) missense probably null 0.96
IGL02473:Or2f1b APN 6 42,739,640 (GRCm39) missense probably damaging 1.00
R0541:Or2f1b UTSW 6 42,739,154 (GRCm39) missense probably damaging 1.00
R1210:Or2f1b UTSW 6 42,739,601 (GRCm39) missense possibly damaging 0.79
R1368:Or2f1b UTSW 6 42,739,613 (GRCm39) missense possibly damaging 0.91
R2383:Or2f1b UTSW 6 42,739,393 (GRCm39) missense probably benign 0.44
R4614:Or2f1b UTSW 6 42,739,352 (GRCm39) missense probably benign 0.07
R4616:Or2f1b UTSW 6 42,739,352 (GRCm39) missense probably benign 0.07
R4844:Or2f1b UTSW 6 42,739,394 (GRCm39) missense probably damaging 0.98
R5121:Or2f1b UTSW 6 42,739,931 (GRCm39) nonsense probably null
R5951:Or2f1b UTSW 6 42,739,493 (GRCm39) missense probably damaging 1.00
R6061:Or2f1b UTSW 6 42,739,899 (GRCm39) missense probably damaging 0.99
R6336:Or2f1b UTSW 6 42,739,591 (GRCm39) missense probably damaging 1.00
R7414:Or2f1b UTSW 6 42,739,762 (GRCm39) missense probably damaging 1.00
R8344:Or2f1b UTSW 6 42,739,499 (GRCm39) missense probably benign 0.03
R9603:Or2f1b UTSW 6 42,739,672 (GRCm39) nonsense probably null
X0018:Or2f1b UTSW 6 42,739,869 (GRCm39) missense probably damaging 0.99
Z1177:Or2f1b UTSW 6 42,739,141 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09