Incidental Mutation 'R1313:Or5p53'
ID 157994
Institutional Source Beutler Lab
Gene Symbol Or5p53
Ensembl Gene ENSMUSG00000095212
Gene Name olfactory receptor family 5 subfamily P member 53
Synonyms GA_x6K02T2PBJ9-10262759-10263691, Olfr473, MOR204-4
MMRRC Submission 039379-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1313 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107532729-107533661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107532975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 83 (M83L)
Ref Sequence ENSEMBL: ENSMUSP00000150610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084761] [ENSMUST00000217618]
AlphaFold Q8VG44
Predicted Effect probably benign
Transcript: ENSMUST00000084761
AA Change: M83L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000081816
Gene: ENSMUSG00000095212
AA Change: M83L

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.4e-49 PFAM
Pfam:7tm_1 41 290 1.5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210626
AA Change: M83L
Predicted Effect probably benign
Transcript: ENSMUST00000217618
AA Change: M83L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.1%
  • 10x: 91.4%
  • 20x: 77.6%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 A G 8: 71,859,857 (GRCm39) E145G possibly damaging Het
Bltp2 A G 11: 78,156,498 (GRCm39) T226A probably benign Het
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Cep250 C T 2: 155,813,999 (GRCm39) A589V probably damaging Het
Clhc1 A G 11: 29,521,678 (GRCm39) I404V probably benign Het
Ddi1 T C 9: 6,265,769 (GRCm39) E200G probably damaging Het
Dmxl1 T C 18: 50,011,550 (GRCm39) S1236P probably damaging Het
Gatb A G 3: 85,561,133 (GRCm39) I550V probably benign Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hnrnpul1 G T 7: 25,422,341 (GRCm39) probably benign Het
Ints1 T C 5: 139,748,661 (GRCm39) T1049A probably benign Het
Lilrb4b C T 10: 51,356,832 (GRCm39) T6I probably benign Het
Mocs1 A T 17: 49,761,297 (GRCm39) T464S probably benign Het
Myo15b T C 11: 115,775,955 (GRCm39) S816P probably damaging Het
Ogfr T C 2: 180,236,423 (GRCm39) L336P probably benign Het
Psapl1 C A 5: 36,362,610 (GRCm39) Q401K probably benign Het
Sh3rf3 C A 10: 58,907,821 (GRCm39) Q450K possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stat1 C T 1: 52,195,165 (GRCm39) T720I probably damaging Het
Other mutations in Or5p53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02354:Or5p53 APN 7 107,533,484 (GRCm39) nonsense probably null
IGL02361:Or5p53 APN 7 107,533,484 (GRCm39) nonsense probably null
IGL03228:Or5p53 APN 7 107,533,330 (GRCm39) missense possibly damaging 0.94
R0255:Or5p53 UTSW 7 107,533,375 (GRCm39) missense probably damaging 0.96
R0306:Or5p53 UTSW 7 107,532,907 (GRCm39) missense probably damaging 1.00
R1126:Or5p53 UTSW 7 107,533,578 (GRCm39) missense possibly damaging 0.76
R1313:Or5p53 UTSW 7 107,532,975 (GRCm39) missense probably benign 0.01
R1860:Or5p53 UTSW 7 107,533,597 (GRCm39) missense probably damaging 1.00
R2060:Or5p53 UTSW 7 107,532,868 (GRCm39) missense probably benign 0.00
R2386:Or5p53 UTSW 7 107,533,480 (GRCm39) missense probably damaging 0.99
R4324:Or5p53 UTSW 7 107,532,900 (GRCm39) missense probably damaging 1.00
R4847:Or5p53 UTSW 7 107,533,034 (GRCm39) nonsense probably null
R5926:Or5p53 UTSW 7 107,533,110 (GRCm39) missense probably damaging 0.98
R6964:Or5p53 UTSW 7 107,532,966 (GRCm39) missense probably benign 0.00
R8024:Or5p53 UTSW 7 107,533,645 (GRCm39) missense probably benign 0.00
R8377:Or5p53 UTSW 7 107,532,892 (GRCm39) missense probably damaging 1.00
R9327:Or5p53 UTSW 7 107,533,019 (GRCm39) nonsense probably null
X0063:Or5p53 UTSW 7 107,533,552 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGAGGCTGAAAACCATACCACG -3'
(R):5'- ACTGTCACCACAATAATGGAGCCAG -3'

Sequencing Primer
(F):5'- GCAGAGCTAATCATCTTGGGAC -3'
(R):5'- TCCAATAATGGAGACATCTGAGC -3'
Posted On 2014-02-18