Incidental Mutation 'IGL01613:Olfr1046'
ID92254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1046
Ensembl Gene ENSMUSG00000075197
Gene Nameolfactory receptor 1046
SynonymsGA_x6K02T2Q125-47692494-47691544, MOR194-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL01613
Quality Score
Status
Chromosome2
Chromosomal Location86214987-86219314 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 86217161 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 183 (D183A)
Ref Sequence ENSEMBL: ENSMUSP00000148873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099902] [ENSMUST00000213987]
Predicted Effect probably damaging
Transcript: ENSMUST00000099902
AA Change: D183A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097486
Gene: ENSMUSG00000075197
AA Change: D183A

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.2e-50 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213987
AA Change: D183A

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T G 5: 125,512,652 M446R possibly damaging Het
Abca16 A G 7: 120,541,277 N1599S probably benign Het
Ankib1 G A 5: 3,713,146 Q528* probably null Het
Ano10 A T 9: 122,259,540 L347M possibly damaging Het
Bag6 T C 17: 35,143,016 probably benign Het
Bpnt1 T C 1: 185,353,994 V182A possibly damaging Het
Capn13 G T 17: 73,331,058 T450N probably benign Het
Cbr3 A T 16: 93,683,443 E40V probably benign Het
Cdk10 T C 8: 123,228,387 I159T probably damaging Het
Cela3b T C 4: 137,425,071 D65G possibly damaging Het
Csf2rb T G 15: 78,335,302 probably benign Het
Cyp2b19 C T 7: 26,763,461 T256I possibly damaging Het
Dpp9 T C 17: 56,190,713 H687R probably benign Het
Elovl1 T C 4: 118,431,270 V108A probably benign Het
Emb T A 13: 117,272,078 N318K probably damaging Het
Ermp1 A G 19: 29,639,939 L36P probably damaging Het
Esco2 T G 14: 65,826,595 H380P possibly damaging Het
Gm5724 G T 6: 141,713,214 T552K possibly damaging Het
Gm9747 G A 1: 82,234,088 probably benign Het
Golga1 A G 2: 39,020,126 M603T probably benign Het
Hsph1 A G 5: 149,627,278 V411A probably benign Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Ints11 T C 4: 155,885,198 probably null Het
Jakmip1 G T 5: 37,100,768 A253S probably damaging Het
Met A G 6: 17,540,577 Y834C probably damaging Het
Mgl2 A G 11: 70,134,158 T2A probably benign Het
Myh2 G T 11: 67,197,344 V1929L probably benign Het
Myh8 T C 11: 67,301,710 S1472P probably benign Het
Myo1e T C 9: 70,341,273 probably benign Het
Ndufaf7 A G 17: 78,937,502 I17V probably benign Het
Olfr1256 T C 2: 89,835,808 T46A probably damaging Het
Olfr193 A T 16: 59,109,921 S230T probably damaging Het
Olfr804 A G 10: 129,705,623 I248M probably benign Het
Olfr830 T A 9: 18,875,321 probably benign Het
Olfr914 A G 9: 38,606,554 I30V probably null Het
Olfr992 C T 2: 85,400,171 D121N probably damaging Het
Ppef2 T C 5: 92,235,820 E477G probably benign Het
Scmh1 T A 4: 120,529,900 probably benign Het
Scn1a C A 2: 66,285,937 D1473Y probably damaging Het
Sdr42e1 C T 8: 117,662,937 V322I probably benign Het
Spta1 G A 1: 174,208,394 A1089T probably damaging Het
Sufu T C 19: 46,475,620 Y424H probably damaging Het
Tgs1 T C 4: 3,585,183 F108L possibly damaging Het
Ttn T C 2: 76,974,964 N177S probably benign Het
Tyk2 T C 9: 21,120,576 D401G probably damaging Het
Vav1 T C 17: 57,307,067 F650L possibly damaging Het
Wdr12 T C 1: 60,080,559 H385R probably damaging Het
Xab2 T C 8: 3,610,880 M745V probably benign Het
Other mutations in Olfr1046
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Olfr1046 APN 2 86217572 missense probably damaging 1.00
IGL03327:Olfr1046 APN 2 86217274 nonsense probably null
R0183:Olfr1046 UTSW 2 86216829 missense probably damaging 1.00
R1738:Olfr1046 UTSW 2 86217716 splice site probably null
R2279:Olfr1046 UTSW 2 86216804 missense probably benign
R4677:Olfr1046 UTSW 2 86217688 missense probably benign 0.04
R4828:Olfr1046 UTSW 2 86217533 missense possibly damaging 0.62
R5188:Olfr1046 UTSW 2 86217177 missense probably benign 0.00
R6244:Olfr1046 UTSW 2 86217222 missense possibly damaging 0.93
R8097:Olfr1046 UTSW 2 86217666 missense probably damaging 0.99
R8420:Olfr1046 UTSW 2 86217113 missense probably damaging 1.00
Posted On2013-12-09