Incidental Mutation 'IGL02300:Or8k3b'
ID 290263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k3b
Ensembl Gene ENSMUSG00000075174
Gene Name olfactory receptor family 8 subfamily K member 3B
Synonyms Olfr1087, GA_x6K02T2Q125-48182406-48181465, MOR188-5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # IGL02300
Quality Score
Status
Chromosome 2
Chromosomal Location 86520376-86521317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86520996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 108 (I108V)
Ref Sequence ENSEMBL: ENSMUSP00000149439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099877] [ENSMUST00000214141]
AlphaFold Q7TR63
Predicted Effect probably benign
Transcript: ENSMUST00000099877
AA Change: I108V

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097462
Gene: ENSMUSG00000075174
AA Change: I108V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.5e-49 PFAM
Pfam:7tm_1 41 290 1.7e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214141
AA Change: I108V

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph T C 13: 19,270,774 (GRCm39) F128L probably damaging Het
Ccdc65 G A 15: 98,620,991 (GRCm39) probably benign Het
Cul9 T C 17: 46,831,958 (GRCm39) probably benign Het
Efcab14 G T 4: 115,616,093 (GRCm39) probably null Het
Frs2 A T 10: 116,913,496 (GRCm39) N111K possibly damaging Het
Herc1 T C 9: 66,383,645 (GRCm39) I3703T probably benign Het
Ktn1 T A 14: 47,927,517 (GRCm39) M557K probably damaging Het
Mib1 G A 18: 10,741,016 (GRCm39) C88Y probably damaging Het
Or5b121 A G 19: 13,507,244 (GRCm39) D113G probably damaging Het
Pclo A T 5: 14,763,755 (GRCm39) Y4076F unknown Het
Pdcd11 T C 19: 47,115,381 (GRCm39) F1417L probably benign Het
Raph1 G A 1: 60,565,106 (GRCm39) T127M possibly damaging Het
Slc38a10 C T 11: 120,001,116 (GRCm39) G568E probably benign Het
Timeless G A 10: 128,080,676 (GRCm39) S519N probably benign Het
U2surp A G 9: 95,370,823 (GRCm39) V373A probably damaging Het
Vmn2r101 A T 17: 19,832,199 (GRCm39) I732F probably damaging Het
Zfp28 T C 7: 6,392,495 (GRCm39) S122P probably benign Het
Other mutations in Or8k3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01747:Or8k3b APN 2 86,521,045 (GRCm39) missense possibly damaging 0.90
IGL03259:Or8k3b APN 2 86,520,894 (GRCm39) missense probably benign 0.00
IGL03404:Or8k3b APN 2 86,520,372 (GRCm39) utr 3 prime probably benign
R1430:Or8k3b UTSW 2 86,520,866 (GRCm39) missense possibly damaging 0.91
R1513:Or8k3b UTSW 2 86,521,141 (GRCm39) missense possibly damaging 0.60
R1529:Or8k3b UTSW 2 86,520,677 (GRCm39) missense possibly damaging 0.69
R1767:Or8k3b UTSW 2 86,520,728 (GRCm39) missense probably benign 0.01
R1869:Or8k3b UTSW 2 86,520,735 (GRCm39) missense probably damaging 0.98
R3056:Or8k3b UTSW 2 86,520,896 (GRCm39) missense possibly damaging 0.91
R5002:Or8k3b UTSW 2 86,520,429 (GRCm39) missense possibly damaging 0.95
R7303:Or8k3b UTSW 2 86,521,166 (GRCm39) missense probably benign 0.05
R8335:Or8k3b UTSW 2 86,520,512 (GRCm39) missense probably benign 0.38
R9042:Or8k3b UTSW 2 86,521,139 (GRCm39) missense probably damaging 0.99
R9364:Or8k3b UTSW 2 86,520,575 (GRCm39) missense possibly damaging 0.66
X0063:Or8k3b UTSW 2 86,520,887 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16