Incidental Mutation 'IGL02794:Or8k32'
ID 359880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8k32
Ensembl Gene ENSMUSG00000075179
Gene Name olfactory receptor family 8 subfamily K member 32
Synonyms GA_x6K02T2Q125-48024195-48023254, MOR189-1, Olfr1079
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02794
Quality Score
Status
Chromosome 2
Chromosomal Location 86368310-86369257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86368492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 256 (T256A)
Ref Sequence ENSEMBL: ENSMUSP00000097467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099882] [ENSMUST00000111582] [ENSMUST00000216480]
AlphaFold Q8VF52
Predicted Effect possibly damaging
Transcript: ENSMUST00000099882
AA Change: T256A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097467
Gene: ENSMUSG00000075179
AA Change: T256A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 175 1.2e-7 PFAM
Pfam:7tm_1 43 292 7.1e-32 PFAM
Pfam:7tm_4 141 285 1.3e-43 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111582
AA Change: T254A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107208
Gene: ENSMUSG00000075179
AA Change: T254A

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 1.6e-48 PFAM
Pfam:7TM_GPCR_Srsx 37 175 1.2e-7 PFAM
Pfam:7tm_1 43 292 2.4e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216480
AA Change: T254A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,621,385 (GRCm39) C1082S probably benign Het
Akt2 G T 7: 27,328,806 (GRCm39) R176L probably benign Het
Aldh16a1 A G 7: 44,795,018 (GRCm39) Y484H probably damaging Het
Apeh A G 9: 107,969,209 (GRCm39) S280P possibly damaging Het
Atp1a4 T C 1: 172,071,653 (GRCm39) M481V probably benign Het
Atraid G A 5: 31,210,214 (GRCm39) S135N probably damaging Het
Camta2 C T 11: 70,566,484 (GRCm39) G677D possibly damaging Het
Ccdc18 A G 5: 108,319,614 (GRCm39) N545S probably benign Het
Cic A G 7: 24,985,069 (GRCm39) D1105G probably damaging Het
Crisp1 A T 17: 40,623,957 (GRCm39) M4K unknown Het
Crnkl1 C T 2: 145,772,532 (GRCm39) E182K possibly damaging Het
Dnmt1 A T 9: 20,847,847 (GRCm39) C114S probably benign Het
Dsc2 A T 18: 20,174,788 (GRCm39) Y496N probably damaging Het
Dst T C 1: 34,309,910 (GRCm39) V1528A probably damaging Het
Fbxl8 C T 8: 105,994,752 (GRCm39) T88M probably benign Het
Fbxo10 T C 4: 45,041,928 (GRCm39) N767S probably benign Het
Gm1527 A G 3: 28,949,829 (GRCm39) T30A unknown Het
Gorasp2 C A 2: 70,509,838 (GRCm39) Y166* probably null Het
Gucy2c T A 6: 136,690,146 (GRCm39) Q744L probably damaging Het
Heg1 A T 16: 33,546,992 (GRCm39) N593I probably damaging Het
Ice1 T A 13: 70,757,278 (GRCm39) S236C possibly damaging Het
Il12b T C 11: 44,298,808 (GRCm39) Y88H probably damaging Het
Izumo3 C T 4: 92,035,200 (GRCm39) V6I probably benign Het
Kcna6 A G 6: 126,715,515 (GRCm39) V458A probably damaging Het
Kif13b G A 14: 65,040,889 (GRCm39) R1659Q probably benign Het
Klk1b1 A G 7: 43,619,789 (GRCm39) D116G possibly damaging Het
Lama2 T C 10: 26,917,227 (GRCm39) T2233A possibly damaging Het
Lin9 A T 1: 180,479,444 (GRCm39) K59N probably damaging Het
Ltbp2 T C 12: 84,838,709 (GRCm39) E1083G probably damaging Het
Mfsd11 T A 11: 116,750,177 (GRCm39) S105T probably damaging Het
Mga T A 2: 119,776,770 (GRCm39) I1768N possibly damaging Het
Mical3 C A 6: 120,984,270 (GRCm39) G202V probably damaging Het
Mylk A T 16: 34,806,911 (GRCm39) I1719F probably benign Het
Nusap1 T A 2: 119,460,867 (GRCm39) F120Y possibly damaging Het
Or52e8 T A 7: 104,624,596 (GRCm39) M203L probably benign Het
Or8b56 T A 9: 38,739,511 (GRCm39) C175S probably damaging Het
Pidd1 T C 7: 141,023,021 (GRCm39) Y57C probably benign Het
Pik3cd T A 4: 149,739,028 (GRCm39) M671L probably benign Het
Ppp5c A G 7: 16,740,885 (GRCm39) V361A probably benign Het
Prune2 T C 19: 17,096,725 (GRCm39) V743A probably benign Het
Siglec1 C A 2: 130,917,889 (GRCm39) S996I possibly damaging Het
Slc12a7 A G 13: 73,957,206 (GRCm39) R948G possibly damaging Het
Slc40a1 A T 1: 45,948,668 (GRCm39) Y537* probably null Het
Smarca4 T A 9: 21,584,638 (GRCm39) probably benign Het
Smg6 C T 11: 74,944,760 (GRCm39) P1109S probably damaging Het
Sorl1 T A 9: 41,975,070 (GRCm39) N513Y probably damaging Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Trim72 T C 7: 127,603,704 (GRCm39) C17R probably damaging Het
Ttc3 T C 16: 94,268,785 (GRCm39) C1956R probably damaging Het
Vmn1r211 G T 13: 23,036,379 (GRCm39) T96N possibly damaging Het
Vmn1r211 C A 13: 23,036,376 (GRCm39) S97I probably damaging Het
Vmn1r211 T A 13: 23,036,377 (GRCm39) S97C probably damaging Het
Vmn2r66 A T 7: 84,644,623 (GRCm39) S596T probably benign Het
Zfp609 A G 9: 65,611,602 (GRCm39) S454P possibly damaging Het
Other mutations in Or8k32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or8k32 APN 2 86,368,674 (GRCm39) missense probably benign 0.12
IGL02289:Or8k32 APN 2 86,368,792 (GRCm39) missense probably benign 0.07
R1498:Or8k32 UTSW 2 86,368,902 (GRCm39) missense probably benign 0.00
R1923:Or8k32 UTSW 2 86,368,857 (GRCm39) missense probably damaging 1.00
R2195:Or8k32 UTSW 2 86,369,247 (GRCm39) missense probably benign 0.05
R2211:Or8k32 UTSW 2 86,368,857 (GRCm39) missense probably damaging 1.00
R2925:Or8k32 UTSW 2 86,368,891 (GRCm39) missense probably damaging 1.00
R4370:Or8k32 UTSW 2 86,368,764 (GRCm39) missense possibly damaging 0.78
R4430:Or8k32 UTSW 2 86,368,731 (GRCm39) missense probably damaging 0.98
R4678:Or8k32 UTSW 2 86,369,077 (GRCm39) missense possibly damaging 0.95
R4790:Or8k32 UTSW 2 86,369,224 (GRCm39) missense possibly damaging 0.63
R4996:Or8k32 UTSW 2 86,368,615 (GRCm39) missense probably benign 0.02
R5905:Or8k32 UTSW 2 86,369,113 (GRCm39) missense possibly damaging 0.91
R5984:Or8k32 UTSW 2 86,368,512 (GRCm39) missense probably damaging 1.00
R6028:Or8k32 UTSW 2 86,369,113 (GRCm39) missense possibly damaging 0.91
R6878:Or8k32 UTSW 2 86,369,109 (GRCm39) missense probably damaging 1.00
R7579:Or8k32 UTSW 2 86,368,872 (GRCm39) missense probably damaging 0.98
R7942:Or8k32 UTSW 2 86,368,566 (GRCm39) missense probably benign 0.42
R8079:Or8k32 UTSW 2 86,368,725 (GRCm39) missense possibly damaging 0.60
R8465:Or8k32 UTSW 2 86,368,731 (GRCm39) missense probably damaging 0.98
Posted On 2015-12-18