Incidental Mutation 'IGL02213:Or5p54'
ID 284736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p54
Ensembl Gene ENSMUSG00000094197
Gene Name olfactory receptor family 5 subfamily P member 54
Synonyms GA_x6K02T2PBJ9-10283869-10284801, MOR204-20, Olfr474
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL02213
Quality Score
Status
Chromosome 7
Chromosomal Location 107553850-107554782 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107554511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 221 (I221T)
Ref Sequence ENSEMBL: ENSMUSP00000055931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054434]
AlphaFold Q8VFC9
Predicted Effect probably damaging
Transcript: ENSMUST00000054434
AA Change: I221T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055931
Gene: ENSMUSG00000094197
AA Change: I221T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.1e-39 PFAM
Pfam:7tm_1 41 290 9.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207265
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,523,254 (GRCm39) R458C probably damaging Het
Aldh6a1 T A 12: 84,479,326 (GRCm39) probably benign Het
Ankrd13a C T 5: 114,924,029 (GRCm39) R42W probably damaging Het
Arhgef17 T C 7: 100,539,633 (GRCm39) M73V probably benign Het
Borcs6 A G 11: 68,950,679 (GRCm39) E19G probably benign Het
Cacna2d2 C T 9: 107,391,247 (GRCm39) R425C probably damaging Het
Cap2 T A 13: 46,789,087 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,521,902 (GRCm39) R374H probably benign Het
Cdk5rap2 A G 4: 70,235,839 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Dleu7 C T 14: 62,514,404 (GRCm39) V193M probably benign Het
Dmxl1 T A 18: 50,010,741 (GRCm39) probably benign Het
Dnah7b T A 1: 46,272,752 (GRCm39) F2293L probably damaging Het
Fgf22 G T 10: 79,592,449 (GRCm39) V75L probably damaging Het
Fras1 C A 5: 96,793,730 (GRCm39) C1017* probably null Het
Frmd3 A C 4: 74,054,109 (GRCm39) I173L probably benign Het
Fst T C 13: 114,592,390 (GRCm39) N109S possibly damaging Het
Greb1 A G 12: 16,756,233 (GRCm39) L801P probably damaging Het
Ift88 A G 14: 57,715,502 (GRCm39) D515G probably damaging Het
Kcnh7 T C 2: 62,569,706 (GRCm39) D730G probably damaging Het
Mbd1 A T 18: 74,408,453 (GRCm39) I231F probably damaging Het
Mre11a T A 9: 14,723,180 (GRCm39) F358I probably damaging Het
Mroh9 G T 1: 162,885,648 (GRCm39) T328K probably damaging Het
Nostrin T C 2: 69,014,262 (GRCm39) L406P probably benign Het
Ntrk3 T A 7: 78,112,679 (GRCm39) Q159L probably benign Het
Oca2 T C 7: 55,971,232 (GRCm39) probably benign Het
Or4k49 A T 2: 111,495,020 (GRCm39) T150S probably benign Het
Or51af1 T A 7: 103,141,695 (GRCm39) H130L probably benign Het
Pfdn4 C T 2: 170,357,695 (GRCm39) Q21* probably null Het
Pkd1l3 T C 8: 110,357,977 (GRCm39) F823S probably damaging Het
Rnf212 C T 5: 108,895,276 (GRCm39) probably benign Het
Sbspon T C 1: 15,929,150 (GRCm39) S214G probably benign Het
Slc12a7 T C 13: 73,945,822 (GRCm39) probably null Het
Ugt3a1 A T 15: 9,370,310 (GRCm39) M485L probably benign Het
Vav1 T C 17: 57,612,351 (GRCm39) V561A possibly damaging Het
Vldlr A G 19: 27,218,726 (GRCm39) T485A probably benign Het
Wiz T C 17: 32,586,834 (GRCm39) T159A probably benign Het
Other mutations in Or5p54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Or5p54 APN 7 107,554,580 (GRCm39) missense possibly damaging 0.48
IGL01794:Or5p54 APN 7 107,554,502 (GRCm39) missense probably damaging 1.00
IGL02007:Or5p54 APN 7 107,553,953 (GRCm39) missense probably damaging 1.00
IGL02529:Or5p54 APN 7 107,554,423 (GRCm39) missense possibly damaging 0.86
IGL02814:Or5p54 APN 7 107,553,977 (GRCm39) missense probably benign 0.00
IGL03242:Or5p54 APN 7 107,554,688 (GRCm39) missense possibly damaging 0.90
R0331:Or5p54 UTSW 7 107,554,077 (GRCm39) missense probably benign
R0409:Or5p54 UTSW 7 107,554,433 (GRCm39) missense probably benign 0.01
R0433:Or5p54 UTSW 7 107,554,469 (GRCm39) missense probably damaging 0.98
R1227:Or5p54 UTSW 7 107,554,259 (GRCm39) missense probably damaging 1.00
R2108:Or5p54 UTSW 7 107,554,709 (GRCm39) missense probably benign 0.00
R2256:Or5p54 UTSW 7 107,554,244 (GRCm39) missense probably damaging 1.00
R5229:Or5p54 UTSW 7 107,554,376 (GRCm39) missense probably damaging 1.00
R5454:Or5p54 UTSW 7 107,554,096 (GRCm39) missense probably benign 0.09
R5834:Or5p54 UTSW 7 107,554,113 (GRCm39) missense probably benign 0.01
R6002:Or5p54 UTSW 7 107,554,376 (GRCm39) missense probably damaging 1.00
R6046:Or5p54 UTSW 7 107,554,001 (GRCm39) missense probably benign
R8214:Or5p54 UTSW 7 107,554,174 (GRCm39) missense probably benign 0.00
R9210:Or5p54 UTSW 7 107,554,017 (GRCm39) missense probably benign 0.08
R9212:Or5p54 UTSW 7 107,554,017 (GRCm39) missense probably benign 0.08
R9385:Or5p54 UTSW 7 107,554,780 (GRCm39) makesense probably null
Posted On 2015-04-16