Incidental Mutation 'IGL02652:Or4k48'
ID 302179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k48
Ensembl Gene ENSMUSG00000109487
Gene Name olfactory receptor family 4 subfamily K member 48
Synonyms Olfr1298, GA_x6K02T2Q125-72697413-72696475, MOR248-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # IGL02652
Quality Score
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111475839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 168 (F168L)
Ref Sequence ENSEMBL: ENSMUSP00000146343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
AlphaFold Q8VGE6
Predicted Effect probably benign
Transcript: ENSMUST00000119566
AA Change: F168L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000208284
AA Change: F168L

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Snrpg T C 6: 86,353,510 (GRCm39) I30T probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Or4k48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Or4k48 APN 2 111,475,601 (GRCm39) missense probably damaging 1.00
IGL01571:Or4k48 APN 2 111,475,725 (GRCm39) missense probably benign 0.00
IGL02605:Or4k48 APN 2 111,475,850 (GRCm39) missense probably benign 0.00
IGL02669:Or4k48 APN 2 111,476,236 (GRCm39) nonsense probably null
R0197:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R0701:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R0883:Or4k48 UTSW 2 111,476,136 (GRCm39) missense probably benign 0.00
R1563:Or4k48 UTSW 2 111,476,027 (GRCm39) missense probably damaging 1.00
R1567:Or4k48 UTSW 2 111,476,271 (GRCm39) missense possibly damaging 0.92
R1740:Or4k48 UTSW 2 111,476,214 (GRCm39) missense probably damaging 0.97
R2142:Or4k48 UTSW 2 111,475,566 (GRCm39) missense probably benign 0.04
R3949:Or4k48 UTSW 2 111,475,871 (GRCm39) missense possibly damaging 0.67
R4766:Or4k48 UTSW 2 111,476,226 (GRCm39) missense probably benign
R4924:Or4k48 UTSW 2 111,476,121 (GRCm39) missense possibly damaging 0.87
R7320:Or4k48 UTSW 2 111,476,297 (GRCm39) missense probably benign 0.03
R7695:Or4k48 UTSW 2 111,475,970 (GRCm39) missense probably damaging 1.00
R7961:Or4k48 UTSW 2 111,476,282 (GRCm39) missense probably damaging 0.97
R8549:Or4k48 UTSW 2 111,479,512 (GRCm39) start gained probably benign
R8958:Or4k48 UTSW 2 111,476,070 (GRCm39) missense possibly damaging 0.93
R9444:Or4k48 UTSW 2 111,476,132 (GRCm39) missense probably damaging 1.00
R9744:Or4k48 UTSW 2 111,475,664 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16