Incidental Mutation 'IGL02800:Olfr23'
ID360132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr23
Ensembl Gene ENSMUSG00000069816
Gene Nameolfactory receptor 23
SynonymsMTPCR50, MOR135-27, GA_x6K02T2P1NL-4097159-4098136
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL02800
Quality Score
Status
Chromosome11
Chromosomal Location73936677-73942658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73941116 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 290 (Y290C)
Ref Sequence ENSEMBL: ENSMUSP00000150593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092917] [ENSMUST00000214210]
Predicted Effect probably damaging
Transcript: ENSMUST00000092917
AA Change: Y290C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: Y290C

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.8e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.8e-6 PFAM
Pfam:7tm_1 41 290 9.3e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214210
AA Change: Y290C

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,420,605 I1045T probably damaging Het
Ankrd22 T C 19: 34,165,781 probably benign Het
Bahcc1 A G 11: 120,272,934 D686G probably damaging Het
Carns1 A G 19: 4,166,570 probably benign Het
Cc2d1b C T 4: 108,626,136 L306F probably benign Het
Ccdc153 A G 9: 44,245,832 E135G probably damaging Het
Ccne1 T C 7: 38,102,799 D148G probably damaging Het
Cfap57 A T 4: 118,614,750 M144K probably damaging Het
Chd6 A G 2: 160,984,632 V1049A probably damaging Het
Cpne9 A G 6: 113,302,073 D476G probably benign Het
Dna2 T C 10: 62,961,725 probably null Het
Eif4h T C 5: 134,627,605 D77G probably benign Het
Fam208b T C 13: 3,585,154 N551S probably benign Het
Fhl2 C T 1: 43,128,402 R177Q probably benign Het
Fxyd5 C T 7: 31,032,979 R176H possibly damaging Het
G6pd2 A G 5: 61,809,392 E170G probably damaging Het
Haus3 A G 5: 34,166,324 I314T possibly damaging Het
Igkv4-54 A G 6: 69,631,878 V41A probably damaging Het
Kidins220 T A 12: 25,003,093 C461S probably damaging Het
Lsr T C 7: 30,958,413 D442G probably damaging Het
Mecom T C 3: 29,961,034 I847V probably damaging Het
Mia2 C T 12: 59,188,491 R1326* probably null Het
Myo15 C A 11: 60,502,369 H2240N probably damaging Het
Olfr1318 A T 2: 112,156,244 I98F possibly damaging Het
Osgep T A 14: 50,915,857 probably benign Het
Pcnt G A 10: 76,412,583 Q901* probably null Het
Pgm3 T C 9: 86,555,378 E481G possibly damaging Het
Plch1 T A 3: 63,698,478 D1326V probably benign Het
Rabgap1l T C 1: 160,472,053 D590G possibly damaging Het
Rapsn A G 2: 91,043,239 M244V probably benign Het
Rcbtb2 T A 14: 73,168,103 Y299* probably null Het
Slc8a1 A T 17: 81,408,323 D760E probably benign Het
Smim23 C A 11: 32,824,424 probably null Het
Sva A G 6: 42,040,135 T59A unknown Het
Tacc2 T A 7: 130,624,079 D831E probably benign Het
Tg G T 15: 66,757,886 W472L probably damaging Het
Tmem231 A G 8: 111,914,032 V283A probably benign Het
Traf4 A T 11: 78,160,235 I365N possibly damaging Het
Usf3 G A 16: 44,219,096 S1313N probably benign Het
Vangl1 G A 3: 102,163,295 probably benign Het
Wdr70 T C 15: 8,082,496 S88G probably benign Het
Other mutations in Olfr23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Olfr23 APN 11 73941194 missense probably benign
IGL02290:Olfr23 APN 11 73940869 missense probably benign 0.00
IGL02301:Olfr23 APN 11 73941068 missense possibly damaging 0.79
IGL02303:Olfr23 APN 11 73940450 missense possibly damaging 0.87
IGL02510:Olfr23 APN 11 73941005 missense probably damaging 1.00
IGL02558:Olfr23 APN 11 73940825 missense probably benign 0.01
IGL02712:Olfr23 APN 11 73940930 missense probably benign 0.12
IGL02795:Olfr23 APN 11 73940929 missense probably benign 0.05
IGL03350:Olfr23 APN 11 73940838 missense probably damaging 0.99
R0277:Olfr23 UTSW 11 73940947 missense probably benign 0.28
R0323:Olfr23 UTSW 11 73940947 missense probably benign 0.28
R0333:Olfr23 UTSW 11 73940767 missense possibly damaging 0.78
R0389:Olfr23 UTSW 11 73941053 missense probably benign 0.12
R0391:Olfr23 UTSW 11 73941109 missense probably damaging 1.00
R0723:Olfr23 UTSW 11 73940270 missense probably benign 0.00
R1469:Olfr23 UTSW 11 73940557 missense probably benign 0.05
R1469:Olfr23 UTSW 11 73940557 missense probably benign 0.05
R1900:Olfr23 UTSW 11 73940660 missense possibly damaging 0.79
R2363:Olfr23 UTSW 11 73940356 missense possibly damaging 0.96
R4236:Olfr23 UTSW 11 73940356 missense possibly damaging 0.96
R4630:Olfr23 UTSW 11 73940996 missense probably damaging 1.00
R4717:Olfr23 UTSW 11 73940815 missense possibly damaging 0.86
R4801:Olfr23 UTSW 11 73940870 missense possibly damaging 0.88
R4802:Olfr23 UTSW 11 73940870 missense possibly damaging 0.88
R4964:Olfr23 UTSW 11 73941202 missense probably benign 0.04
R5119:Olfr23 UTSW 11 73940552 missense possibly damaging 0.76
R5470:Olfr23 UTSW 11 73940870 missense probably benign 0.06
R6196:Olfr23 UTSW 11 73940809 missense possibly damaging 0.86
R6551:Olfr23 UTSW 11 73940303 missense probably benign 0.11
R7695:Olfr23 UTSW 11 73940894 missense possibly damaging 0.94
R8074:Olfr23 UTSW 11 73940387 missense possibly damaging 0.78
X0065:Olfr23 UTSW 11 73940324 missense possibly damaging 0.59
Z1088:Olfr23 UTSW 11 73941138 missense probably benign 0.01
Posted On2015-12-18