Incidental Mutation 'IGL02450:Olfr525'
ID294138
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr525
Ensembl Gene ENSMUSG00000061489
Gene Nameolfactory receptor 525
SynonymsMOR251-2, GA_x6K02T2PBJ9-42472898-42473827
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02450
Quality Score
Status
Chromosome7
Chromosomal Location140320858-140327625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140323227 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 176 (H176R)
Ref Sequence ENSEMBL: ENSMUSP00000149361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078103] [ENSMUST00000214594]
Predicted Effect possibly damaging
Transcript: ENSMUST00000078103
AA Change: H176R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000077243
Gene: ENSMUSG00000061489
AA Change: H176R

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 35 260 1.5e-5 PFAM
Pfam:7tm_1 41 290 1.3e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214594
AA Change: H176R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215542
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,914,762 *781W probably null Het
Adamts16 C A 13: 70,836,300 R81S probably damaging Het
Aldh1l1 A G 6: 90,569,873 D386G probably benign Het
Anxa6 G A 11: 54,994,941 R393W probably damaging Het
Bdnf G A 2: 109,723,604 V108I possibly damaging Het
Bpgm C T 6: 34,487,464 R39W probably damaging Het
Cd101 T C 3: 100,993,738 E1006G probably damaging Het
Cd109 A T 9: 78,695,850 E972V possibly damaging Het
Cdhr3 T A 12: 33,082,225 Q133L probably benign Het
Cdk5r1 C T 11: 80,477,840 A111V probably benign Het
Cnga4 A T 7: 105,405,748 I77F probably damaging Het
Egfem1 G A 3: 29,657,268 probably null Het
Fam205c A G 4: 42,874,127 S14P probably benign Het
Fbxl21 T A 13: 56,526,953 V39D possibly damaging Het
Gimap6 T C 6: 48,704,417 I94M probably benign Het
Glis1 T C 4: 107,627,529 V407A probably benign Het
Gm5784 C T 12: 19,387,969 noncoding transcript Het
Gm9839 A T 1: 32,520,883 probably benign Het
Heatr5a T A 12: 51,945,430 M566L probably benign Het
Jph1 G A 1: 17,003,977 P606S possibly damaging Het
Jup C T 11: 100,378,357 C410Y probably damaging Het
Kif23 A G 9: 61,923,957 M777T probably benign Het
Lifr G T 15: 7,190,765 D959Y probably damaging Het
Lsm1 C A 8: 25,793,778 L73I possibly damaging Het
Maneal G A 4: 124,857,135 A276V probably benign Het
Myh4 A G 11: 67,251,809 D932G probably damaging Het
Nipbl C T 15: 8,343,574 V1063M probably damaging Het
Nlrx1 A G 9: 44,253,501 V882A probably benign Het
Obox6 A G 7: 15,833,713 C270R probably damaging Het
Pard3b A G 1: 62,532,676 I925V possibly damaging Het
Pdhx A G 2: 103,042,249 S163P probably benign Het
Pdzrn3 T C 6: 101,354,500 D271G probably damaging Het
Plec A G 15: 76,191,315 I399T probably damaging Het
Pthlh T G 6: 147,257,168 D98A possibly damaging Het
Spock3 T A 8: 63,245,215 probably null Het
Tgtp2 C T 11: 49,059,490 G85D probably benign Het
Tmem94 A G 11: 115,793,071 D739G probably damaging Het
Washc5 G A 15: 59,332,317 R706* probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zscan20 G T 4: 128,586,657 D680E probably damaging Het
Other mutations in Olfr525
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02143:Olfr525 APN 7 140323592 nonsense probably null
IGL02927:Olfr525 APN 7 140322741 missense probably damaging 1.00
IGL03008:Olfr525 APN 7 140323532 missense probably damaging 1.00
IGL03202:Olfr525 APN 7 140323106 missense possibly damaging 0.96
R0268:Olfr525 UTSW 7 140323155 missense possibly damaging 0.63
R0612:Olfr525 UTSW 7 140323188 missense possibly damaging 0.63
R0751:Olfr525 UTSW 7 140323325 missense probably benign
R0801:Olfr525 UTSW 7 140322918 missense probably damaging 1.00
R0940:Olfr525 UTSW 7 140323152 missense probably benign 0.01
R2220:Olfr525 UTSW 7 140323571 missense probably benign 0.03
R3748:Olfr525 UTSW 7 140323128 missense possibly damaging 0.87
R4660:Olfr525 UTSW 7 140323412 missense possibly damaging 0.67
R4683:Olfr525 UTSW 7 140322768 missense probably benign 0.01
R4887:Olfr525 UTSW 7 140323101 missense probably benign
R4919:Olfr525 UTSW 7 140323514 nonsense probably null
R5097:Olfr525 UTSW 7 140323095 missense probably damaging 1.00
R5836:Olfr525 UTSW 7 140322914 missense probably benign
R7024:Olfr525 UTSW 7 140322846 missense possibly damaging 0.75
R8242:Olfr525 UTSW 7 140322783 nonsense probably null
R8390:Olfr525 UTSW 7 140323114 missense possibly damaging 0.56
Posted On2015-04-16