Incidental Mutation 'IGL03113:Olfr623'
ID419259
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: 0.125) question?
Stock #IGL03113
Quality Score
Status
Chromosome7
Chromosomal Location103657697-103663698 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103660644 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 202 (V202D)
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 possibly damaging
Transcript: ENSMUST00000068531
AA Change: V202D

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070658
Gene: ENSMUSG00000099687
AA Change: V202D

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 possibly damaging
Transcript: ENSMUST00000213840
AA Change: V202D

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apof G A 10: 128,269,699 V241M probably benign Het
Arhgef10 T A 8: 14,954,505 I91N probably damaging Het
Arhgef17 G A 7: 100,929,731 T670I probably benign Het
Barhl1 T C 2: 28,915,456 D75G probably benign Het
Capn13 T C 17: 73,331,113 T432A probably benign Het
Casd1 T A 6: 4,640,951 Y691N probably damaging Het
Ccdc175 C A 12: 72,144,783 V340L probably benign Het
Cdc5l A T 17: 45,433,422 M5K possibly damaging Het
Cgn A G 3: 94,779,234 F253L probably benign Het
Csmd1 T C 8: 16,028,698 K2003R probably benign Het
Disp2 T A 2: 118,790,778 probably null Het
Dnah7a T C 1: 53,433,004 N3535D possibly damaging Het
Exoc3 G A 13: 74,193,113 Q191* probably null Het
Fstl5 T A 3: 76,429,792 Y219* probably null Het
Gad2 T A 2: 22,681,355 L435Q probably benign Het
Gcnt3 A G 9: 70,034,701 V195A probably damaging Het
Haus6 G A 4: 86,583,106 Q843* probably null Het
Hivep2 T A 10: 14,130,651 F998I probably damaging Het
Hsf5 A T 11: 87,657,364 E624D probably benign Het
Klb A G 5: 65,383,470 N969D probably benign Het
Klhl6 T A 16: 19,957,251 S186C possibly damaging Het
Klk15 T C 7: 43,938,381 F78L probably benign Het
Ldlr A G 9: 21,739,828 E514G possibly damaging Het
Map9 T A 3: 82,359,978 probably benign Het
Miga2 A T 2: 30,384,010 I99F possibly damaging Het
Morc4 T C X: 139,857,856 E189G probably benign Het
Nhlrc3 A T 3: 53,458,563 Y170N possibly damaging Het
Olfr1138 T C 2: 87,738,162 Q54R probably benign Het
Olfr1216 A G 2: 89,014,035 F10L probably damaging Het
Olfr1321 T A X: 49,727,062 N291Y probably damaging Het
Olfr401 G A 11: 74,121,703 R138Q probably benign Het
Olfr654 A T 7: 104,588,733 R310W probably benign Het
Olfr951 A C 9: 39,394,685 K295T probably damaging Het
Pkd1l1 G A 11: 8,834,793 T1997I probably benign Het
Poln A G 5: 34,116,862 S377P probably benign Het
Rab22a T A 2: 173,661,472 V26E probably damaging Het
Rhbdl3 T C 11: 80,353,613 V382A possibly damaging Het
Slitrk3 G T 3: 73,050,390 Q350K probably benign Het
Sult1d1 A T 5: 87,559,879 Y127* probably null Het
Vmn1r73 A T 7: 11,756,600 Y115F probably benign Het
Zfp128 T A 7: 12,890,387 D227E probably benign Het
Other mutations in Olfr623
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Olfr623 APN 7 103661067 missense probably damaging 0.99
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
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
R7570:Olfr623 UTSW 7 103660881 missense probably damaging 1.00
X0066:Olfr623 UTSW 7 103660660 missense probably benign 0.18
Posted On2016-08-02