Incidental Mutation 'IGL01355:Olfr1279'
ID 75494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1279
Ensembl Gene ENSMUSG00000109813
Gene Name olfactory receptor 1279
Synonyms MOR245-12, GA_x6K02T2Q125-72357646-72358581
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01355
Quality Score
Status
Chromosome 2
Chromosomal Location 111300635-111309043 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 111307093 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 296 (I296K)
Ref Sequence ENSEMBL: ENSMUSP00000149972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062407] [ENSMUST00000090329] [ENSMUST00000213823] [ENSMUST00000216697]
AlphaFold Q8VF38
Predicted Effect
SMART Domains Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: I296K

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 7.2e-45 PFAM
Pfam:7TM_GPCR_Srsx 34 302 2.4e-5 PFAM
Pfam:7tm_1 41 287 2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090329
AA Change: I298K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: I298K

DomainStartEndE-ValueType
Pfam:7tm_4 33 306 1.7e-44 PFAM
Pfam:7TM_GPCR_Srsx 36 300 3.2e-5 PFAM
Pfam:7tm_1 43 289 7.4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213823
AA Change: I296K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216697
AA Change: I296K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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
Ajap1 C T 4: 153,386,481 V290I probably damaging Het
Ankrd12 A G 17: 65,970,340 probably benign Het
Anxa4 A T 6: 86,752,205 I140N probably damaging Het
Asap2 A G 12: 21,218,086 probably benign Het
Cd36 C T 5: 17,813,074 V214I possibly damaging Het
Col24a1 T C 3: 145,314,876 L336S probably benign Het
Dcc C T 18: 71,809,114 V311I probably benign Het
Gpr146 A T 5: 139,378,904 probably benign Het
Irf1 T C 11: 53,774,361 V188A probably benign Het
Limk1 G A 5: 134,657,900 probably benign Het
Mcidas T C 13: 112,999,069 F342S probably damaging Het
Mctp1 A G 13: 76,384,955 T141A probably benign Het
Mnd1 C A 3: 84,116,477 A101S probably benign Het
Nsun7 T C 5: 66,294,868 S466P probably damaging Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Olfr617 A G 7: 103,584,373 E117G probably damaging Het
Pik3c2g G T 6: 139,852,857 G371V probably damaging Het
Sdad1 A G 5: 92,302,679 V199A probably damaging Het
Spg11 C T 2: 122,113,156 V172I probably benign Het
Tas2r108 A G 6: 40,493,751 T54A possibly damaging Het
Tmem121b A G 6: 120,492,466 L430P probably damaging Het
Traf3ip1 A G 1: 91,518,297 D384G probably damaging Het
Trank1 A G 9: 111,365,520 T871A possibly damaging Het
Vegfa T C 17: 46,025,421 M258V possibly damaging Het
Zbtb49 A G 5: 38,210,616 probably null Het
Other mutations in Olfr1279
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Olfr1279 APN 2 111306621 missense probably benign 0.19
IGL01864:Olfr1279 APN 2 111307055 missense probably damaging 1.00
IGL02160:Olfr1279 APN 2 111306798 missense probably benign 0.02
IGL02183:Olfr1279 APN 2 111306418 missense probably damaging 0.98
PIT4377001:Olfr1279 UTSW 2 111306880 missense probably damaging 1.00
R0280:Olfr1279 UTSW 2 111307072 missense possibly damaging 0.48
R0636:Olfr1279 UTSW 2 111306412 missense probably benign 0.06
R0732:Olfr1279 UTSW 2 111306980 nonsense probably null
R1661:Olfr1279 UTSW 2 111306771 missense probably damaging 1.00
R1665:Olfr1279 UTSW 2 111306771 missense probably damaging 1.00
R2251:Olfr1279 UTSW 2 111306310 missense probably damaging 1.00
R2252:Olfr1279 UTSW 2 111306310 missense probably damaging 1.00
R2253:Olfr1279 UTSW 2 111306310 missense probably damaging 1.00
R2473:Olfr1279 UTSW 2 111306891 missense probably damaging 1.00
R3408:Olfr1279 UTSW 2 111306505 missense probably damaging 1.00
R5020:Olfr1279 UTSW 2 111306292 missense probably benign 0.01
R5634:Olfr1279 UTSW 2 111307092 missense probably benign
R5647:Olfr1279 UTSW 2 111307047 missense possibly damaging 0.67
R6782:Olfr1279 UTSW 2 111306745 missense probably damaging 1.00
R6911:Olfr1279 UTSW 2 111306273 missense probably benign 0.00
R7135:Olfr1279 UTSW 2 111307020 missense probably benign 0.05
R7167:Olfr1279 UTSW 2 111306448 missense probably benign 0.10
R7452:Olfr1279 UTSW 2 111306921 missense probably damaging 1.00
R7563:Olfr1279 UTSW 2 111306789 missense probably benign 0.00
R7582:Olfr1279 UTSW 2 111306448 missense probably damaging 0.97
R8949:Olfr1279 UTSW 2 111307034 missense probably damaging 1.00
X0021:Olfr1279 UTSW 2 111306588 missense probably damaging 1.00
Posted On 2013-10-07