Incidental Mutation 'IGL01067:Olfr1294'
ID50399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1294
Ensembl Gene ENSMUSG00000109547
Gene Nameolfactory receptor 1294
SynonymsGA_x6K02T2Q125-72589785-72588847, MOR248-7
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.171) question?
Stock #IGL01067
Quality Score
Status
Chromosome2
Chromosomal Location111536530-111540291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 111538014 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 92 (I92F)
Ref Sequence ENSEMBL: ENSMUSP00000146438 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000208334] [ENSMUST00000208675] [ENSMUST00000215245]
Predicted Effect probably damaging
Transcript: ENSMUST00000099614
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097209
Gene: ENSMUSG00000094000
AA Change: I92F

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.7e-51 PFAM
Pfam:7tm_1 41 287 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208334
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000208675
AA Change: I92F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215245
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
A330008L17Rik T C 8: 99,421,954 noncoding transcript Het
Acp4 C T 7: 44,253,452 V331I probably benign Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Alg6 T C 4: 99,741,570 V128A probably benign Het
Ank3 A G 10: 69,850,196 K280E probably damaging Het
Bfar T C 16: 13,685,241 C36R probably damaging Het
Car14 A G 3: 95,898,816 I311T probably damaging Het
Cd300c T C 11: 114,960,427 probably benign Het
Cfap100 T A 6: 90,406,114 E513V probably damaging Het
Clip1 C A 5: 123,630,804 K612N probably damaging Het
Depdc5 A G 5: 32,899,067 probably null Het
Dock3 A T 9: 107,082,373 probably null Het
Dph6 A T 2: 114,647,809 M17K probably damaging Het
Enkur T C 2: 21,189,231 Q177R probably benign Het
Faap100 T C 11: 120,372,132 H800R probably damaging Het
Fastkd2 T G 1: 63,737,771 probably benign Het
Fcgr2b A T 1: 170,968,053 N102K possibly damaging Het
Fezf1 C T 6: 23,247,843 V78I possibly damaging Het
Fmn2 A T 1: 174,503,319 D425V unknown Het
Fnta G A 8: 26,007,201 Q207* probably null Het
Fpr3 T A 17: 17,970,566 V33D probably benign Het
Fshr C T 17: 88,985,393 C619Y possibly damaging Het
Gbp3 T C 3: 142,566,597 probably null Het
Gjb2 A G 14: 57,100,172 V193A possibly damaging Het
Il4ra A G 7: 125,575,161 T292A probably benign Het
Lama5 A G 2: 180,176,543 probably benign Het
Marveld3 G T 8: 109,961,964 D48E possibly damaging Het
Meox1 A T 11: 101,893,773 I78N probably benign Het
Ncor1 A T 11: 62,392,528 H444Q probably damaging Het
Ndst3 T C 3: 123,546,817 Q784R probably damaging Het
Olfr1123 A G 2: 87,418,370 I107M probably benign Het
Pld5 A T 1: 176,274,879 probably benign Het
Plk1 G A 7: 122,168,925 R456H probably damaging Het
Polr2a T A 11: 69,748,014 I65F possibly damaging Het
Ptprd T A 4: 76,059,685 I196F probably damaging Het
Qsox2 T C 2: 26,228,396 N121S probably damaging Het
Reln A G 5: 21,979,666 L1617S probably damaging Het
Rragc T C 4: 123,929,968 F345L probably benign Het
Sass6 A T 3: 116,613,956 E240D possibly damaging Het
Shcbp1l A C 1: 153,436,024 S308R possibly damaging Het
Slc1a5 T A 7: 16,786,879 C224* probably null Het
Slc27a5 T C 7: 12,989,072 E567G probably damaging Het
Synj2 T A 17: 6,037,926 N1417K possibly damaging Het
Tbc1d9 A G 8: 83,234,162 T214A probably damaging Het
Tjp3 C A 10: 81,273,865 V835L probably benign Het
Trpc4 C A 3: 54,222,562 Q250K probably benign Het
Ttn A T 2: 76,745,162 I25129N probably damaging Het
Ube4a T A 9: 44,944,865 Y523F probably damaging Het
Zfp971 G A 2: 178,023,382 probably null Het
Other mutations in Olfr1294
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02304:Olfr1294 APN 2 111537401 missense probably benign 0.06
IGL02555:Olfr1294 APN 2 111537917 missense probably damaging 0.98
R0422:Olfr1294 UTSW 2 111537983 missense probably damaging 0.97
R0647:Olfr1294 UTSW 2 111537359 missense probably benign 0.00
R0656:Olfr1294 UTSW 2 111537627 missense probably damaging 1.00
R1543:Olfr1294 UTSW 2 111537797 missense probably benign 0.00
R1909:Olfr1294 UTSW 2 111538014 missense probably damaging 1.00
R3735:Olfr1294 UTSW 2 111537896 missense probably damaging 1.00
R4671:Olfr1294 UTSW 2 111537935 missense probably damaging 1.00
R4703:Olfr1294 UTSW 2 111537768 missense probably benign 0.03
R4809:Olfr1294 UTSW 2 111537611 missense probably benign 0.15
R4822:Olfr1294 UTSW 2 111537452 missense probably damaging 0.98
R4837:Olfr1294 UTSW 2 111537974 missense probably damaging 0.98
R4880:Olfr1294 UTSW 2 111537353 nonsense probably null
R5203:Olfr1294 UTSW 2 111537636 missense probably damaging 1.00
R5871:Olfr1294 UTSW 2 111537639 missense probably damaging 1.00
R5902:Olfr1294 UTSW 2 111537394 missense probably benign 0.00
R6501:Olfr1294 UTSW 2 111537779 missense probably damaging 1.00
R7354:Olfr1294 UTSW 2 111537564 missense possibly damaging 0.94
R7575:Olfr1294 UTSW 2 111538252 missense probably damaging 1.00
R7623:Olfr1294 UTSW 2 111537936 missense probably damaging 1.00
R7632:Olfr1294 UTSW 2 111538176 missense possibly damaging 0.87
R7845:Olfr1294 UTSW 2 111538167 nonsense probably null
R8130:Olfr1294 UTSW 2 111537480 missense probably damaging 1.00
Z1088:Olfr1294 UTSW 2 111537814 missense possibly damaging 0.89
Z1176:Olfr1294 UTSW 2 111538285 start codon destroyed probably null 1.00
Posted On2013-06-21