Incidental Mutation 'IGL00969:Olfr623'
ID27907
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr623
Ensembl Gene ENSMUSG00000099687
Gene Nameolfactory receptor 623
SynonymsMOR1-4, GA_x6K02T2PBJ9-6384836-6383883
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL00969
Quality Score
Status
Chromosome7
Chromosomal Location103657697-103663698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103661067 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 61 (Y61F)
Ref Sequence ENSEMBL: ENSMUSP00000150141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062144] [ENSMUST00000068531] [ENSMUST00000213840]
Predicted Effect probably benign
Transcript: ENSMUST00000062144
SMART Domains Protein: ENSMUSP00000049938
Gene: ENSMUSG00000045780

DomainStartEndE-ValueType
Pfam:7tm_4 27 306 3.3e-138 PFAM
Pfam:7tm_1 37 288 1.8e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000068531
AA Change: Y61F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: Y61F

DomainStartEndE-ValueType
Pfam:7tm_4 32 310 1.7e-112 PFAM
Pfam:7TM_GPCR_Srsx 36 299 3.1e-7 PFAM
Pfam:7tm_1 42 293 2.6e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213840
AA Change: Y61F

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 G A 5: 4,001,550 S1439N probably benign Het
Bcl9l A G 9: 44,508,242 T1069A possibly damaging Het
Btaf1 T G 19: 37,011,252 probably benign Het
Cdc40 A T 10: 40,843,128 V335E probably damaging Het
Cenpj A T 14: 56,564,963 N48K possibly damaging Het
Cfh A G 1: 140,088,682 W635R probably damaging Het
Clca1 A G 3: 145,008,958 S633P possibly damaging Het
Cnot6 T C 11: 49,685,120 M176V probably benign Het
Cryz G T 3: 154,618,526 E51* probably null Het
Dcc A G 18: 71,456,883 Y681H probably benign Het
Dmxl1 T A 18: 49,912,725 N2412K probably benign Het
Gpr137b C T 13: 13,365,065 W258* probably null Het
Hnf1b A G 11: 83,882,700 T242A probably benign Het
Hsd11b1 A T 1: 193,223,644 C213* probably null Het
Igsf11 A T 16: 39,008,917 T117S probably damaging Het
Inpp5b T C 4: 124,783,994 Y416H probably damaging Het
Kcnq3 C A 15: 66,004,726 V523F probably damaging Het
Krtap9-5 T C 11: 99,948,465 probably benign Het
Lrig3 T C 10: 125,997,115 L286S probably damaging Het
Myo18b C T 5: 112,875,007 probably benign Het
Nupl1 A G 14: 60,228,916 probably benign Het
Olfr1008 G A 2: 85,689,663 C78Y probably benign Het
Olfr1442 T C 19: 12,674,241 L12P probably damaging Het
Olfr186 A G 16: 59,027,631 I92T possibly damaging Het
Pyroxd2 T C 19: 42,731,438 D443G possibly damaging Het
Ttc28 A G 5: 111,225,740 D1014G probably benign Het
Tubgcp5 T A 7: 55,806,595 S312T possibly damaging Het
Uckl1 T C 2: 181,569,617 D473G probably benign Het
Vmn2r76 G T 7: 86,228,717 H491N probably benign Het
Wwc2 G A 8: 47,846,158 R1039W unknown Het
Zc3h14 T A 12: 98,758,843 S255T probably benign Het
Zfp369 T C 13: 65,297,260 V739A probably benign Het
Zfyve21 A G 12: 111,824,934 probably benign Het
Znhit6 A G 3: 145,594,596 probably benign Het
Other mutations in Olfr623
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01669:Olfr623 APN 7 103660987 missense probably benign 0.02
IGL01731:Olfr623 APN 7 103660846 missense probably benign 0.01
IGL02057:Olfr623 APN 7 103660653 missense probably damaging 1.00
IGL02249:Olfr623 APN 7 103660366 missense probably damaging 0.99
IGL02937:Olfr623 APN 7 103660905 missense probably damaging 1.00
IGL03113:Olfr623 APN 7 103660644 missense possibly damaging 0.90
R0413:Olfr623 UTSW 7 103660750 missense possibly damaging 0.52
R0862:Olfr623 UTSW 7 103660528 missense probably damaging 1.00
R1262:Olfr623 UTSW 7 103660441 missense probably benign 0.33
R1791:Olfr623 UTSW 7 103660798 unclassified probably null
R2327:Olfr623 UTSW 7 103660572 missense probably damaging 1.00
R2338:Olfr623 UTSW 7 103660410 missense possibly damaging 0.90
R4521:Olfr623 UTSW 7 103660332 missense probably benign 0.01
R4831:Olfr623 UTSW 7 103660471 missense probably benign 0.40
R5322:Olfr623 UTSW 7 103660672 missense possibly damaging 0.62
R6270:Olfr623 UTSW 7 103660413 missense possibly damaging 0.48
R6959:Olfr623 UTSW 7 103660843 missense probably damaging 1.00
R7157:Olfr623 UTSW 7 103660581 missense probably damaging 1.00
R7181:Olfr623 UTSW 7 103660813 missense probably damaging 0.99
X0066:Olfr623 UTSW 7 103660660 missense probably benign 0.18
Posted On2013-04-17