Incidental Mutation 'IGL01078:Or5p56'
ID 51461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p56
Ensembl Gene ENSMUSG00000096151
Gene Name olfactory receptor family 5 subfamily P member 56
Synonyms Olfr477, GA_x6K02T2PBJ9-10319672-10320604, MOR204-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # IGL01078
Quality Score
Status
Chromosome 7
Chromosomal Location 107589574-107590506 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107590150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 193 (S193T)
Ref Sequence ENSEMBL: ENSMUSP00000091654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091605] [ENSMUST00000214677]
AlphaFold Q8VGI6
Predicted Effect probably benign
Transcript: ENSMUST00000091605
AA Change: S193T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000091654
Gene: ENSMUSG00000096151
AA Change: S193T

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 8e-52 PFAM
Pfam:7tm_1 41 290 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214677
AA Change: S193T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d1a C T 8: 84,866,894 (GRCm39) V393M possibly damaging Het
Dpep3 G A 8: 106,704,860 (GRCm39) A150V probably damaging Het
Etl4 C T 2: 20,811,342 (GRCm39) R1510* probably null Het
Gm773 T C X: 55,242,013 (GRCm39) E112G probably damaging Het
Hlcs A G 16: 93,934,019 (GRCm39) I760T probably damaging Het
Mllt3 A G 4: 87,798,297 (GRCm39) probably benign Het
Plxna2 T A 1: 194,469,001 (GRCm39) probably benign Het
Trp53inp1 T A 4: 11,165,369 (GRCm39) V131D probably damaging Het
Vmn2r117 A G 17: 23,696,778 (GRCm39) W210R probably damaging Het
Zfyve19 T A 2: 119,046,981 (GRCm39) C350* probably null Het
Other mutations in Or5p56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00907:Or5p56 APN 7 107,590,097 (GRCm39) missense probably damaging 0.97
IGL01141:Or5p56 APN 7 107,589,758 (GRCm39) missense probably damaging 1.00
IGL02613:Or5p56 APN 7 107,590,381 (GRCm39) nonsense probably null
R0625:Or5p56 UTSW 7 107,590,396 (GRCm39) missense probably damaging 1.00
R0791:Or5p56 UTSW 7 107,589,740 (GRCm39) missense probably benign 0.27
R1254:Or5p56 UTSW 7 107,589,647 (GRCm39) missense probably benign 0.01
R1456:Or5p56 UTSW 7 107,589,605 (GRCm39) missense probably benign 0.06
R1522:Or5p56 UTSW 7 107,589,740 (GRCm39) missense probably benign 0.27
R1541:Or5p56 UTSW 7 107,590,048 (GRCm39) missense probably benign 0.10
R2889:Or5p56 UTSW 7 107,589,784 (GRCm39) missense probably benign 0.06
R5653:Or5p56 UTSW 7 107,589,592 (GRCm39) missense probably benign 0.38
R6146:Or5p56 UTSW 7 107,589,620 (GRCm39) missense probably damaging 1.00
R6190:Or5p56 UTSW 7 107,590,307 (GRCm39) missense probably damaging 1.00
R7103:Or5p56 UTSW 7 107,589,805 (GRCm39) missense possibly damaging 0.92
R7191:Or5p56 UTSW 7 107,589,853 (GRCm39) missense possibly damaging 0.88
R7553:Or5p56 UTSW 7 107,589,682 (GRCm39) missense probably benign 0.03
R7681:Or5p56 UTSW 7 107,590,355 (GRCm39) missense possibly damaging 0.80
Z1088:Or5p56 UTSW 7 107,589,938 (GRCm39) missense probably benign 0.42
Z1177:Or5p56 UTSW 7 107,590,301 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21