Incidental Mutation 'IGL02296:Olfr384'
ID290165
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr384
Ensembl Gene ENSMUSG00000060335
Gene Nameolfactory receptor 384
SynonymsOlfr386, GA_x6K02T2P1NL-3739520-3740032, GA_x6K02T2P1NL-3773152-3774090, MOR135-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.208) question?
Stock #IGL02296
Quality Score
Status
Chromosome11
Chromosomal Location73598594-73605092 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73602706 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 42 (N42I)
Ref Sequence ENSEMBL: ENSMUSP00000148997 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072993] [ENSMUST00000214228]
Predicted Effect probably damaging
Transcript: ENSMUST00000072993
AA Change: N42I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072758
Gene: ENSMUSG00000060335
AA Change: N42I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.5e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 305 5.6e-9 PFAM
Pfam:7tm_1 41 290 1.4e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214228
AA Change: N42I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402D24Rik T A 1: 63,769,185 R7S unknown Het
Acss3 A T 10: 107,053,451 Y169* probably null Het
Anln T C 9: 22,372,187 K450R possibly damaging Het
Armc10 A T 5: 21,660,633 R225S probably benign Het
Cbfb T A 8: 105,178,680 Y85N probably damaging Het
Col13a1 G T 10: 61,862,025 probably benign Het
Dclk2 T C 3: 86,793,293 I626V probably damaging Het
Epb41 G A 4: 132,003,754 T172M probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Glyat A T 19: 12,651,261 D140V probably damaging Het
Gm13089 G A 4: 143,698,481 Q131* probably null Het
Hikeshi A T 7: 89,935,922 F25I probably damaging Het
Ifi204 A G 1: 173,749,314 Y574H possibly damaging Het
Kcnd3 C T 3: 105,667,001 R501* probably null Het
Kdm4a T C 4: 118,177,465 E23G probably damaging Het
Map3k19 C T 1: 127,824,246 S456N probably damaging Het
Mgat4c A G 10: 102,385,160 probably benign Het
Nup214 A G 2: 31,988,188 N289S possibly damaging Het
Obsl1 G T 1: 75,498,149 A674D possibly damaging Het
Olfr640 A T 7: 104,022,104 probably null Het
Pak2 T C 16: 32,044,002 probably null Het
Pde4a A T 9: 21,192,569 N138I possibly damaging Het
Per1 A G 11: 69,102,175 D286G probably damaging Het
Prdx2 T A 8: 84,974,052 D188E probably benign Het
Ptgis T C 2: 167,206,737 K453R probably damaging Het
Radil A G 5: 142,506,463 V470A probably benign Het
Rgs12 A G 5: 34,966,120 S416G probably damaging Het
Rnf213 A G 11: 119,463,336 H4013R probably benign Het
Ttc17 A G 2: 94,377,710 L185P probably damaging Het
Ttn A G 2: 76,712,424 I33406T probably damaging Het
Ube2e1 A G 14: 18,331,062 probably benign Het
Other mutations in Olfr384
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01476:Olfr384 APN 11 73603230 missense probably damaging 1.00
IGL01767:Olfr384 APN 11 73603032 missense probably benign
IGL02327:Olfr384 APN 11 73603155 missense probably damaging 1.00
IGL02740:Olfr384 APN 11 73602831 missense probably benign 0.41
H8562:Olfr384 UTSW 11 73603447 missense probably damaging 1.00
R0594:Olfr384 UTSW 11 73603392 missense probably benign 0.03
R2038:Olfr384 UTSW 11 73603413 missense probably damaging 1.00
R2127:Olfr384 UTSW 11 73602805 missense possibly damaging 0.78
R2844:Olfr384 UTSW 11 73603383 missense probably benign 0.12
R2846:Olfr384 UTSW 11 73603383 missense probably benign 0.12
R3877:Olfr384 UTSW 11 73603153 missense probably damaging 1.00
R4193:Olfr384 UTSW 11 73603417 missense probably damaging 1.00
R4433:Olfr384 UTSW 11 73602886 missense probably damaging 1.00
R4824:Olfr384 UTSW 11 73602600 missense possibly damaging 0.61
R4851:Olfr384 UTSW 11 73603057 missense probably damaging 1.00
R5285:Olfr384 UTSW 11 73602941 nonsense probably null
R5326:Olfr384 UTSW 11 73603204 missense possibly damaging 0.94
R5542:Olfr384 UTSW 11 73603204 missense possibly damaging 0.94
R5662:Olfr384 UTSW 11 73603179 missense probably benign 0.03
R6489:Olfr384 UTSW 11 73603439 missense probably damaging 1.00
R6770:Olfr384 UTSW 11 73602978 missense probably benign 0.04
R7131:Olfr384 UTSW 11 73602736 missense possibly damaging 0.78
R7313:Olfr384 UTSW 11 73602984 missense probably damaging 0.99
R7754:Olfr384 UTSW 11 73603506 nonsense probably null
Posted On2015-04-16