Incidental Mutation 'R2386:Or5p53'
ID 247699
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2386 (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 G at 107533480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 251 (Y251C)
Ref Sequence ENSEMBL: ENSMUSP00000150610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084761] [ENSMUST00000217618]
AlphaFold Q8VG44
Predicted Effect probably damaging
Transcript: ENSMUST00000084761
AA Change: Y251C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081816
Gene: ENSMUSG00000095212
AA Change: Y251C

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: Y251C
Predicted Effect probably damaging
Transcript: ENSMUST00000217618
AA Change: Y251C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 92.7%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,328,575 (GRCm39) D2G probably damaging Het
Btnl9 A G 11: 49,069,602 (GRCm39) S226P probably damaging Het
Canx A T 11: 50,187,933 (GRCm39) D558E probably benign Het
Cd248 G T 19: 5,119,221 (GRCm39) M356I possibly damaging Het
Col1a1 A T 11: 94,841,217 (GRCm39) D1200V unknown Het
Dgat2 A C 7: 98,806,300 (GRCm39) V299G possibly damaging Het
Ercc6 G A 14: 32,263,316 (GRCm39) probably null Het
Fgfr4 T C 13: 55,315,714 (GRCm39) V747A probably benign Het
Ftcd A C 10: 76,417,211 (GRCm39) D240A probably damaging Het
Hs3st3b1 C A 11: 63,780,039 (GRCm39) E363* probably null Het
Ikbke A G 1: 131,187,003 (GRCm39) L563P probably damaging Het
Lbhd2 A T 12: 111,376,741 (GRCm39) T63S possibly damaging Het
Mterf1a A T 5: 3,941,225 (GRCm39) D214E probably benign Het
Pclo A G 5: 14,815,261 (GRCm39) E4511G unknown Het
Pigs A G 11: 78,223,812 (GRCm39) Y108C probably damaging Het
Pkhd1l1 A G 15: 44,391,574 (GRCm39) T1547A probably benign Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Rad54b T A 4: 11,597,874 (GRCm39) M253K probably benign Het
Rrp12 T C 19: 41,859,723 (GRCm39) D1080G probably benign Het
Sox6 A G 7: 115,196,740 (GRCm39) Y298H probably damaging Het
Tdrd9 A T 12: 111,982,334 (GRCm39) D475V probably damaging Het
Tmem131 G A 1: 36,868,716 (GRCm39) H370Y probably benign 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
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
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'- CTGCTCAGATGTCTCCATTATTGG -3'
(R):5'- CTCAGTGTGCCATGGGTAAAG -3'

Sequencing Primer
(F):5'- CCATTATTGGAATCATCCCCTCTATC -3'
(R):5'- TGTGCCATGGGTAAAGTAAACCTC -3'
Posted On 2014-11-11