Incidental Mutation 'IGL02480:Or5p78'
ID 295137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p78
Ensembl Gene ENSMUSG00000058244
Gene Name olfactory receptor family 5 subfamily P member 78
Synonyms Olfr506, MOR204-23, GA_x6K02T2PBJ9-10942040-10942984
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02480
Quality Score
Status
Chromosome 7
Chromosomal Location 108211516-108212460 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108212018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 168 (T168I)
Ref Sequence ENSEMBL: ENSMUSP00000147623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077343] [ENSMUST00000209296]
AlphaFold Q7TRU6
Predicted Effect probably benign
Transcript: ENSMUST00000077343
AA Change: T168I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000076566
Gene: ENSMUSG00000058244
AA Change: T168I

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 1e-53 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209296
AA Change: T168I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pgd A G 4: 149,241,075 (GRCm39) V278A probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Or5p78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01825:Or5p78 APN 7 108,212,261 (GRCm39) missense probably damaging 0.97
IGL02802:Or5p78 UTSW 7 108,211,669 (GRCm39) missense probably damaging 0.99
R0294:Or5p78 UTSW 7 108,212,357 (GRCm39) missense probably damaging 1.00
R0398:Or5p78 UTSW 7 108,212,162 (GRCm39) missense probably benign 0.30
R0452:Or5p78 UTSW 7 108,211,577 (GRCm39) missense possibly damaging 0.62
R3788:Or5p78 UTSW 7 108,212,280 (GRCm39) nonsense probably null
R7065:Or5p78 UTSW 7 108,212,266 (GRCm39) missense probably damaging 0.99
R7345:Or5p78 UTSW 7 108,212,270 (GRCm39) missense probably benign 0.11
R7671:Or5p78 UTSW 7 108,212,198 (GRCm39) missense probably damaging 1.00
R8270:Or5p78 UTSW 7 108,212,150 (GRCm39) missense probably benign 0.21
R8794:Or5p78 UTSW 7 108,211,580 (GRCm39) missense probably benign 0.08
Posted On 2015-04-16