Incidental Mutation 'IGL02588:Olfr646'
ID299601
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr646
Ensembl Gene ENSMUSG00000073931
Gene Nameolfactory receptor 646
SynonymsGA_x6K02T2PBJ9-6841330-6842268, MOR33-2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.533) question?
Stock #IGL02588
Quality Score
Status
Chromosome7
Chromosomal Location104104873-104109766 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 104107053 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 258 (T258I)
Ref Sequence ENSEMBL: ENSMUSP00000149102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098182] [ENSMUST00000138055] [ENSMUST00000214099]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098182
AA Change: T258I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095784
Gene: ENSMUSG00000073931
AA Change: T258I

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 1.9e-109 PFAM
Pfam:7TM_GPCR_Srsx 32 225 6.1e-10 PFAM
Pfam:7tm_1 38 290 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138055
SMART Domains Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214099
AA Change: T258I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214291
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G A 12: 52,886,499 W258* probably null Het
Ankmy2 T C 12: 36,176,686 probably benign Het
Arhgap26 G T 18: 38,601,617 probably benign Het
Aspscr1 A G 11: 120,677,531 D60G possibly damaging Het
Cdh15 C A 8: 122,856,552 Y31* probably null Het
Cnih3 A G 1: 181,409,704 R76G probably benign Het
Cplx1 C A 5: 108,525,423 R44L possibly damaging Het
Dhx57 T A 17: 80,268,871 I597F probably damaging Het
Dnah17 G T 11: 118,025,653 F4231L possibly damaging Het
Dst T G 1: 34,117,484 L173R probably damaging Het
Fam84b T C 15: 60,823,150 D249G probably damaging Het
Fezf2 A T 14: 12,343,687 Y353N probably damaging Het
Ghrhr T A 6: 55,383,410 L247Q probably damaging Het
Gm10912 C T 2: 104,066,852 probably benign Het
Gpcpd1 A T 2: 132,534,753 L541H probably damaging Het
Gpld1 C T 13: 24,943,699 T28I probably damaging Het
Lmf2 A T 15: 89,355,406 probably null Het
Mex3c A G 18: 73,590,045 N403S probably damaging Het
Nlrp1b A T 11: 71,182,279 L246* probably null Het
Nlrp2 A T 7: 5,327,552 L615* probably null Het
Nlrp4c A T 7: 6,084,648 D760V probably benign Het
Nlrp4g T C 9: 124,348,843 noncoding transcript Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Nuggc T A 14: 65,617,777 probably benign Het
Olfr1228 T C 2: 89,249,698 probably benign Het
Papolg T A 11: 23,890,252 I75F probably damaging Het
Pcdhgc5 A G 18: 37,821,950 Y759C probably damaging Het
Pdp2 A G 8: 104,594,904 K462E possibly damaging Het
Plod1 A T 4: 147,913,290 L654* probably null Het
Ppp4r3b G T 11: 29,198,853 G25* probably null Het
Ptch1 T C 13: 63,511,918 D1307G probably benign Het
Ranbp17 A G 11: 33,217,361 V1034A probably benign Het
Rbl2 T A 8: 91,087,084 L319Q probably damaging Het
Retnlg A G 16: 48,872,892 T11A probably benign Het
Rfc3 A T 5: 151,642,916 F356Y possibly damaging Het
Rnf213 G T 11: 119,416,536 C674F probably benign Het
Shcbp1l A G 1: 153,428,665 K157E probably benign Het
Slc22a17 A G 14: 54,907,994 C233R probably damaging Het
Slc38a9 A G 13: 112,697,977 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
St14 C A 9: 31,090,033 probably benign Het
Sympk G A 7: 19,042,625 V481M probably benign Het
Timeless T A 10: 128,243,334 L350Q probably damaging Het
Tnfrsf1a A G 6: 125,360,766 I229V probably benign Het
Ugt3a2 A T 15: 9,361,456 H106L probably benign Het
Zbtb45 A T 7: 13,006,277 C470* probably null Het
Other mutations in Olfr646
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01779:Olfr646 APN 7 104106633 missense probably damaging 1.00
IGL02454:Olfr646 APN 7 104106612 missense probably damaging 0.96
IGL02961:Olfr646 APN 7 104107150 nonsense probably null
IGL03092:Olfr646 APN 7 104106647 missense probably damaging 0.99
R0006:Olfr646 UTSW 7 104106320 missense probably benign 0.00
R0109:Olfr646 UTSW 7 104106605 missense probably damaging 1.00
R0109:Olfr646 UTSW 7 104106605 missense probably damaging 1.00
R0601:Olfr646 UTSW 7 104107142 missense possibly damaging 0.83
R0732:Olfr646 UTSW 7 104106294 missense probably damaging 1.00
R1320:Olfr646 UTSW 7 104106480 missense probably damaging 1.00
R1468:Olfr646 UTSW 7 104106689 missense possibly damaging 0.82
R1468:Olfr646 UTSW 7 104106689 missense possibly damaging 0.82
R1513:Olfr646 UTSW 7 104106464 missense probably benign 0.02
R5486:Olfr646 UTSW 7 104106498 missense probably damaging 0.99
R6110:Olfr646 UTSW 7 104106572 missense probably damaging 1.00
R6497:Olfr646 UTSW 7 104107215 intron probably benign
R6856:Olfr646 UTSW 7 104106791 missense probably benign 0.00
Posted On2015-04-16