Incidental Mutation 'IGL01288:Olfr523'
ID72796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr523
Ensembl Gene ENSMUSG00000051051
Gene Nameolfactory receptor 523
SynonymsMOR104-4, GA_x6K02T2PBJ9-42327937-42328872
Accession Numbers

Genbank: NM_146518; MGI: 3030357

Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01288
Quality Score
Status
Chromosome7
Chromosomal Location140173217-140178758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 140176615 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 165 (L165P)
Ref Sequence ENSEMBL: ENSMUSP00000149562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055890] [ENSMUST00000209314] [ENSMUST00000213953] [ENSMUST00000214272] [ENSMUST00000215785] [ENSMUST00000216023]
Predicted Effect probably damaging
Transcript: ENSMUST00000055890
AA Change: L171P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052678
Gene: ENSMUSG00000051051
AA Change: L171P

DomainStartEndE-ValueType
low complexity region 18 29 N/A INTRINSIC
Pfam:7tm_4 40 317 1.6e-50 PFAM
Pfam:7tm_1 50 299 1.6e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209314
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213953
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214272
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215785
AA Change: L165P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216023
AA Change: L165P

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 122,780,642 probably benign Het
Acsl3 G T 1: 78,699,759 W490L possibly damaging Het
Ahnak A G 19: 9,002,494 I381V possibly damaging Het
Aox2 A G 1: 58,294,407 Y261C probably damaging Het
Ap3m2 T C 8: 22,803,915 T40A probably benign Het
Arfgef1 C T 1: 10,213,211 A158T possibly damaging Het
Atp1a4 T C 1: 172,257,907 E43G possibly damaging Het
Cog5 C T 12: 31,886,206 T584I probably benign Het
Cpa1 G A 6: 30,640,583 V75M probably damaging Het
Cul7 A G 17: 46,657,807 probably benign Het
Dopey2 T C 16: 93,739,293 I93T possibly damaging Het
Dyrk2 T C 10: 118,860,699 Y218C probably damaging Het
Efr3b T C 12: 3,982,865 Y164C probably damaging Het
Etos1 C A 7: 130,772,205 probably benign Het
Fam13a A G 6: 58,956,727 Y293H probably damaging Het
Fam35a A T 14: 34,259,643 Y513N probably benign Het
Gde1 A T 7: 118,691,640 V154D possibly damaging Het
Glyat A G 19: 12,650,355 T105A possibly damaging Het
Il1f8 A T 2: 24,159,913 I179L probably benign Het
Kif21b C T 1: 136,172,184 T1492M probably benign Het
Kmt2d G T 15: 98,865,044 P282T probably damaging Het
Lgi4 A G 7: 31,069,043 E489G probably benign Het
Lipn A C 19: 34,079,035 E260D probably benign Het
Mdn1 A G 4: 32,730,864 D2911G probably benign Het
Nab2 C T 10: 127,665,109 R38Q probably damaging Het
Olfr1101 C A 2: 86,988,254 M307I probably benign Het
Olfr1184 T A 2: 88,487,248 I172K probably damaging Het
Olfr1231 A T 2: 89,303,472 V40E possibly damaging Het
Olfr395 A T 11: 73,907,313 Y60N probably damaging Het
Olfr556 A G 7: 102,670,651 T244A probably damaging Het
Osbpl6 T C 2: 76,564,823 S337P probably damaging Het
Phf8 T C X: 151,547,925 probably null Het
Pik3c2b C T 1: 133,094,805 H1162Y probably damaging Het
Plek2 T C 12: 78,894,953 D134G possibly damaging Het
Rnf139 G A 15: 58,899,179 R351H probably damaging Het
Skint5 T C 4: 113,524,135 probably benign Het
Slc12a9 C T 5: 137,330,938 probably null Het
St5 A G 7: 109,539,822 I668T probably damaging Het
Stradb C A 1: 58,992,301 H216N possibly damaging Het
Tex15 C T 8: 33,571,384 H281Y probably benign Het
Tg G T 15: 66,736,276 V237L possibly damaging Het
Tns1 T A 1: 73,953,810 T570S probably damaging Het
Tpm1 C T 9: 67,036,055 R105H probably damaging Het
Wdfy3 G T 5: 101,901,991 probably null Het
Zc3h12c A G 9: 52,117,651 probably benign Het
Zmynd8 T A 2: 165,812,814 S584C probably damaging Het
Other mutations in Olfr523
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Olfr523 APN 7 140176534 missense probably benign 0.00
D3080:Olfr523 UTSW 7 140176362 missense possibly damaging 0.94
R0503:Olfr523 UTSW 7 140176441 missense possibly damaging 0.95
R1644:Olfr523 UTSW 7 140176648 missense probably benign 0.12
R1760:Olfr523 UTSW 7 140176275 missense probably damaging 1.00
R1852:Olfr523 UTSW 7 140176561 nonsense probably null
R1960:Olfr523 UTSW 7 140176683 missense probably benign 0.37
R2363:Olfr523 UTSW 7 140176965 missense probably damaging 1.00
R3700:Olfr523 UTSW 7 140176214 missense possibly damaging 0.54
R4626:Olfr523 UTSW 7 140176446 missense probably damaging 1.00
R4678:Olfr523 UTSW 7 140176228 missense probably benign 0.21
R4779:Olfr523 UTSW 7 140176450 missense probably damaging 1.00
R4999:Olfr523 UTSW 7 140177020 missense probably damaging 1.00
R5663:Olfr523 UTSW 7 140176321 missense probably damaging 1.00
R7352:Olfr523 UTSW 7 140176525 missense probably damaging 1.00
R8525:Olfr523 UTSW 7 140176342 missense probably damaging 0.99
Posted On2013-10-07