Incidental Mutation 'IGL01129:Olfr6'
ID51613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr6
Ensembl Gene ENSMUSG00000036647
Gene Nameolfactory receptor 6
SynonymsM50, GA_x6K02T2PBJ9-9337331-9336381, MOR103-16
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01129
Quality Score
Status
Chromosome7
Chromosomal Location106953251-106963937 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 106956427 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 170 (N170D)
Ref Sequence ENSEMBL: ENSMUSP00000151272 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040983] [ENSMUST00000213552] [ENSMUST00000213651] [ENSMUST00000219365]
Predicted Effect probably damaging
Transcript: ENSMUST00000040983
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048740
Gene: ENSMUSG00000036647
AA Change: N170D

DomainStartEndE-ValueType
Pfam:7tm_4 29 305 1.5e-58 PFAM
Pfam:7tm_1 39 288 3.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209125
Predicted Effect probably damaging
Transcript: ENSMUST00000213552
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213651
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219365
AA Change: N170D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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
4933436I01Rik A T X: 67,920,604 F216L possibly damaging Het
Bace2 T G 16: 97,408,430 N181K probably damaging Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ckap2 C T 8: 22,169,758 G569D probably damaging Het
Col11a1 T C 3: 114,185,873 probably benign Het
Col1a2 G A 6: 4,535,846 D939N unknown Het
Creb3l2 A T 6: 37,353,634 probably benign Het
Cuedc1 T A 11: 88,183,254 S205T possibly damaging Het
Cux1 G A 5: 136,304,718 probably benign Het
Cyp3a59 A G 5: 146,098,279 M256V probably benign Het
Gzf1 C A 2: 148,690,996 P690Q probably damaging Het
Lrch3 T A 16: 32,994,965 D575E probably benign Het
Lypd3 A G 7: 24,640,593 M362V probably benign Het
Mppe1 C A 18: 67,237,444 G61* probably null Het
Nr2c2 T A 6: 92,158,416 D328E probably benign Het
Pfn4 T A 12: 4,775,505 V114E probably damaging Het
Rab14 T C 2: 35,183,386 probably benign Het
Slc30a9 G T 5: 67,342,143 G315C probably damaging Het
Spag16 A T 1: 69,896,522 S303C probably benign Het
Spata16 C T 3: 26,913,184 probably benign Het
Srcap T C 7: 127,521,651 V161A probably damaging Het
Srd5a3 A G 5: 76,149,746 probably benign Het
Vmn1r18 A T 6: 57,390,497 F24Y probably benign Het
Vmn1r78 A T 7: 12,153,238 T259S probably benign Het
Zc3h13 G A 14: 75,335,999 D1527N probably damaging Het
Other mutations in Olfr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Olfr6 APN 7 106956556 missense probably damaging 1.00
IGL02556:Olfr6 APN 7 106956391 missense possibly damaging 0.82
R1550:Olfr6 UTSW 7 106956028 missense probably benign
R1883:Olfr6 UTSW 7 106956774 missense probably benign 0.42
R2069:Olfr6 UTSW 7 106956287 nonsense probably null
R2250:Olfr6 UTSW 7 106956373 missense probably benign 0.00
R2279:Olfr6 UTSW 7 106956627 missense probably benign 0.00
R5283:Olfr6 UTSW 7 106956748 missense probably benign 0.00
Posted On2013-06-21