Incidental Mutation 'IGL02303:Olfr23'
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ID287453
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: 0.240) question?
Stock #IGL02303
Quality Score
Status
Chromosome11
Chromosomal Location73936677-73942658 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73940450 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 68 (F68S)
Ref Sequence ENSEMBL: ENSMUSP00000150593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092917] [ENSMUST00000214210]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092917
AA Change: F68S

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: F68S

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 possibly damaging
Transcript: ENSMUST00000214210
AA Change: F68S

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,154,550 F319S probably damaging Het
Ap3b1 A G 13: 94,528,319 D922G unknown Het
Bhlhe41 A T 6: 145,864,156 H107Q probably damaging Het
Csmd2 C A 4: 128,369,008 H662Q probably benign Het
Dnah8 T C 17: 30,713,047 V1463A probably benign Het
Ebf3 A T 7: 137,309,365 V140E probably benign Het
Havcr2 T A 11: 46,479,281 probably benign Het
Hexb G A 13: 97,176,893 A485V probably damaging Het
Igkv5-37 T A 6: 69,963,489 Q57L probably damaging Het
Ipo5 T A 14: 120,917,383 S40T probably benign Het
Kcnj8 A G 6: 142,570,111 M90T probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Kmt2c A C 5: 25,310,157 L2896R probably damaging Het
Ldlrap1 A T 4: 134,757,395 I96N probably damaging Het
Leo1 A G 9: 75,445,999 probably benign Het
Mbnl2 T C 14: 120,404,647 M341T probably benign Het
Nfatc2 G A 2: 168,506,901 R669* probably null Het
Nhlrc2 T A 19: 56,574,848 V293E probably damaging Het
Olfr521 A G 7: 99,767,972 D270G possibly damaging Het
Olfr610 A T 7: 103,506,088 M286K probably benign Het
Olfr632 A G 7: 103,937,563 Q61R possibly damaging Het
Otoa T A 7: 121,132,924 probably null Het
Pcnt T C 10: 76,442,559 probably benign Het
Recql4 G T 15: 76,708,571 Q307K possibly damaging Het
Sp140 T A 1: 85,643,009 Y453* probably null Het
Sspo G A 6: 48,484,705 V3600I possibly damaging Het
Sybu T C 15: 44,673,223 E441G probably benign Het
Syne3 A T 12: 104,963,294 H222Q probably damaging Het
Tef T C 15: 81,821,295 V173A probably benign Het
Tlcd1 A G 11: 78,180,334 probably null Het
Tmod4 C A 3: 95,125,642 Q30K probably benign Het
Tpgs1 T C 10: 79,675,488 Y155H probably damaging Het
Trib3 G A 2: 152,343,150 P60S probably benign Het
Ttn T A 2: 76,730,206 T20957S probably damaging Het
Vars T C 17: 35,015,484 probably benign Het
Vps13c T C 9: 67,945,481 probably benign Het
Zc3h4 T C 7: 16,434,077 S704P unknown Het
Zfp644 G A 5: 106,637,314 R456W probably damaging 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
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
IGL02800:Olfr23 APN 11 73941116 missense probably damaging 1.00
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 On2015-04-16