Incidental Mutation 'IGL02677:Olfr1282'
ID 303162
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1282
Ensembl Gene ENSMUSG00000096554
Gene Name olfactory receptor 1282
Synonyms MOR248-2, Olfr1557, GA_x6K02T2Q125-72387537-72386620, MOR248-16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02677
Quality Score
Status
Chromosome 2
Chromosomal Location 111335159-111336076 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111335802 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 92 (I92N)
Ref Sequence ENSEMBL: ENSMUSP00000097213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099618] [ENSMUST00000208176]
AlphaFold Q7TQY5
Predicted Effect probably damaging
Transcript: ENSMUST00000099618
AA Change: I92N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097213
Gene: ENSMUSG00000096554
AA Change: I92N

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 5.5e-47 PFAM
Pfam:7tm_1 41 287 2.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208176
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
4931406B18Rik G T 7: 43,501,095 Y84* probably null Het
4931406P16Rik T A 7: 34,242,409 probably benign Het
Adam5 A G 8: 24,812,379 probably benign Het
Aipl1 T C 11: 72,029,396 E282G possibly damaging Het
Akp3 A G 1: 87,125,272 D61G probably damaging Het
Anpep A G 7: 79,838,730 S451P probably damaging Het
Csnka2ip A G 16: 64,478,312 L119P probably damaging Het
Ddx19a T C 8: 110,989,609 E53G probably benign Het
Ddx50 C T 10: 62,616,293 R116Q unknown Het
Ddx60 A T 8: 61,988,132 E1078D probably damaging Het
Dpy19l1 T C 9: 24,485,072 D116G probably damaging Het
Dsg4 A G 18: 20,464,876 T668A possibly damaging Het
Dspp A G 5: 104,175,977 T329A possibly damaging Het
Eftud2 T C 11: 102,846,614 T554A probably damaging Het
Enpp1 T C 10: 24,679,185 probably benign Het
Ext2 A T 2: 93,707,245 F599I probably damaging Het
Fahd1 A T 17: 24,849,530 I191N probably damaging Het
Fcrls A T 3: 87,259,387 S100T probably benign Het
Fras1 T A 5: 96,545,024 C181S probably damaging Het
Gcnt4 A G 13: 96,947,233 I346V probably benign Het
Gfra1 G A 19: 58,453,355 T48I probably damaging Het
Kcnma1 A G 14: 23,463,156 Y392H probably damaging Het
Klc2 T C 19: 5,111,668 Y298C probably damaging Het
Lamb3 G A 1: 193,339,522 V1011I probably benign Het
Ldb1 T C 19: 46,036,155 probably benign Het
Mcph1 A G 8: 18,625,593 K11E probably damaging Het
Myc A G 15: 61,989,664 H374R probably damaging Het
Myom1 A G 17: 71,084,349 Y853C probably damaging Het
Pakap C T 4: 57,856,263 P572S probably benign Het
Pclo A G 5: 14,676,929 probably benign Het
Pde3a G A 6: 141,405,172 probably benign Het
Per1 T C 11: 69,106,660 V887A probably benign Het
Prokr1 G A 6: 87,588,368 probably benign Het
Rb1cc1 A G 1: 6,249,419 I1021V probably benign Het
Ryr1 T C 7: 29,110,608 E344G probably benign Het
Sec24c A T 14: 20,689,642 D529V probably damaging Het
Slc1a6 T C 10: 78,789,064 V101A probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tap2 G A 17: 34,212,047 V374M probably benign Het
Tex15 T A 8: 33,571,080 D179E probably benign Het
Tmem8b T C 4: 43,686,092 L241P probably damaging Het
Tmprss11g T C 5: 86,492,290 D160G probably benign Het
Trim30a C T 7: 104,435,913 C30Y probably damaging Het
Ttn A G 2: 76,771,496 probably benign Het
Ush2a A G 1: 188,734,685 R2849G probably damaging Het
Usp5 A G 6: 124,819,426 V570A probably damaging Het
Vipr1 T C 9: 121,660,283 probably benign Het
Zc2hc1c A C 12: 85,290,076 D169A probably benign Het
Other mutations in Olfr1282
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0798:Olfr1282 UTSW 2 111335344 missense probably benign 0.16
R0932:Olfr1282 UTSW 2 111335198 missense probably benign 0.00
R0972:Olfr1282 UTSW 2 111335418 missense probably benign 0.18
R1033:Olfr1282 UTSW 2 111335802 missense probably damaging 1.00
R1864:Olfr1282 UTSW 2 111335707 missense possibly damaging 0.95
R1879:Olfr1282 UTSW 2 111335463 missense possibly damaging 0.61
R2343:Olfr1282 UTSW 2 111335700 missense probably damaging 1.00
R2509:Olfr1282 UTSW 2 111335731 missense probably damaging 0.98
R3620:Olfr1282 UTSW 2 111335344 missense probably benign 0.06
R5589:Olfr1282 UTSW 2 111335505 missense possibly damaging 0.46
R6487:Olfr1282 UTSW 2 111335667 missense probably benign 0.00
R6818:Olfr1282 UTSW 2 111335314 missense probably benign 0.22
R7153:Olfr1282 UTSW 2 111335901 missense probably damaging 1.00
R7480:Olfr1282 UTSW 2 111335392 missense probably benign 0.22
R7589:Olfr1282 UTSW 2 111335374 missense probably damaging 1.00
R8441:Olfr1282 UTSW 2 111335786 nonsense probably null
R8774:Olfr1282 UTSW 2 111335973 missense probably damaging 1.00
R8774-TAIL:Olfr1282 UTSW 2 111335973 missense probably damaging 1.00
Posted On 2015-04-16