Incidental Mutation 'IGL03298:Or4f53'
ID 416146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f53
Ensembl Gene ENSMUSG00000063844
Gene Name olfactory receptor family 4 subfamily F member 53
Synonyms MOR245-10, GA_x6K02T2Q125-72308574-72309512, Olfr1276
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # IGL03298
Quality Score
Status
Chromosome 2
Chromosomal Location 111087462-111088400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111087879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 140 (M140L)
Ref Sequence ENSEMBL: ENSMUSP00000151987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073322] [ENSMUST00000218065]
AlphaFold Q8VF40
Predicted Effect probably benign
Transcript: ENSMUST00000073322
AA Change: M140L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073046
Gene: ENSMUSG00000063844
AA Change: M140L

DomainStartEndE-ValueType
Pfam:7tm_4 30 304 9.7e-40 PFAM
Pfam:7tm_1 41 287 4.5e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213658
Predicted Effect probably benign
Transcript: ENSMUST00000218065
AA Change: M140L

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,923 (GRCm39) T1344A probably benign Het
Abcc4 C A 14: 118,848,880 (GRCm39) D491Y probably damaging Het
Casp2 C T 6: 42,245,924 (GRCm39) probably benign Het
Ccnb2 T C 9: 70,326,156 (GRCm39) T63A probably benign Het
Cgrrf1 A G 14: 47,083,778 (GRCm39) I187V probably benign Het
Clstn2 C T 9: 97,338,625 (GRCm39) V845M probably damaging Het
Dmxl1 T C 18: 49,997,885 (GRCm39) M691T probably benign Het
Dnhd1 T G 7: 105,363,682 (GRCm39) I4081M probably damaging Het
H2-T3 T C 17: 36,500,320 (GRCm39) Y125C probably damaging Het
Kif1a T A 1: 92,993,903 (GRCm39) D349V probably damaging Het
L3mbtl3 T C 10: 26,158,696 (GRCm39) T651A unknown Het
Megf10 C T 18: 57,416,910 (GRCm39) Q760* probably null Het
Mroh7 T A 4: 106,571,288 (GRCm39) K22* probably null Het
Or7g29 A T 9: 19,286,358 (GRCm39) V273E probably damaging Het
Ppp6r3 A T 19: 3,571,829 (GRCm39) Y107N probably damaging Het
Reln T A 5: 22,115,834 (GRCm39) Q3058L probably damaging Het
Ss18 T C 18: 14,812,484 (GRCm39) M36V possibly damaging Het
Tlr7 C A X: 166,089,703 (GRCm39) K594N probably benign Het
Trim10 A G 17: 37,187,917 (GRCm39) S378G possibly damaging Het
Zfp644 A G 5: 106,782,967 (GRCm39) S1105P possibly damaging Het
Other mutations in Or4f53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02339:Or4f53 APN 2 111,087,588 (GRCm39) missense probably benign 0.00
R0022:Or4f53 UTSW 2 111,087,994 (GRCm39) missense probably benign 0.30
R0254:Or4f53 UTSW 2 111,087,466 (GRCm39) missense probably benign 0.13
R3903:Or4f53 UTSW 2 111,088,114 (GRCm39) missense probably damaging 1.00
R4801:Or4f53 UTSW 2 111,087,497 (GRCm39) missense probably damaging 1.00
R4802:Or4f53 UTSW 2 111,087,497 (GRCm39) missense probably damaging 1.00
R5165:Or4f53 UTSW 2 111,087,568 (GRCm39) missense possibly damaging 0.83
R5341:Or4f53 UTSW 2 111,087,982 (GRCm39) missense probably damaging 1.00
R5619:Or4f53 UTSW 2 111,087,856 (GRCm39) missense probably damaging 1.00
R7761:Or4f53 UTSW 2 111,087,519 (GRCm39) missense possibly damaging 0.93
R8181:Or4f53 UTSW 2 111,087,918 (GRCm39) missense probably benign
R9456:Or4f53 UTSW 2 111,088,348 (GRCm39) missense probably benign 0.00
R9571:Or4f53 UTSW 2 111,088,083 (GRCm39) missense probably benign 0.38
R9761:Or4f53 UTSW 2 111,087,607 (GRCm39) missense possibly damaging 0.63
R9761:Or4f53 UTSW 2 111,087,606 (GRCm39) missense probably benign 0.00
Z1088:Or4f53 UTSW 2 111,088,204 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02