Incidental Mutation 'IGL01571:Or4k48'
ID 93288
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 # IGL01571
Quality Score
Status
Chromosome 2
Chromosomal Location 111475402-111476340 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 111475725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 206 (V206L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119566] [ENSMUST00000208284]
AlphaFold Q8VGE6
Predicted Effect probably benign
Transcript: ENSMUST00000090322
AA Change: V206L
SMART Domains Protein: ENSMUSP00000099610
Gene: ENSMUSG00000096853
AA Change: V206L

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 6.7e-48 PFAM
Pfam:7tm_1 41 287 1.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119566
AA Change: V206L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208284
AA Change: V206L

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 T A 9: 21,450,377 (GRCm39) probably benign Het
Cep164 T C 9: 45,705,636 (GRCm39) Q127R possibly damaging Het
Ces1f T A 8: 93,984,996 (GRCm39) M444L probably benign Het
Chd5 T A 4: 152,468,572 (GRCm39) probably benign Het
Cpd T A 11: 76,673,122 (GRCm39) Y1341F probably damaging Het
Cryz T C 3: 154,327,380 (GRCm39) I268T probably damaging Het
Csnk2a1 G A 2: 152,117,326 (GRCm39) R278H probably damaging Het
Cyp4a12b A G 4: 115,295,354 (GRCm39) I487V probably benign Het
Dnajb5 T C 4: 42,956,516 (GRCm39) probably benign Het
Dxo A T 17: 35,058,016 (GRCm39) H214L probably damaging Het
Etfb T C 7: 43,102,383 (GRCm39) probably null Het
G6pc2 G A 2: 69,053,311 (GRCm39) V122I probably damaging Het
Gm5431 A T 11: 48,785,540 (GRCm39) D278E probably benign Het
Gstt2 C T 10: 75,670,005 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,326 (GRCm39) probably benign Het
Ifi44 T C 3: 151,451,174 (GRCm39) D259G probably damaging Het
Klk1 T C 7: 43,878,020 (GRCm39) V92A probably damaging Het
Lypla1 T C 1: 4,915,211 (GRCm39) I222T probably benign Het
Nbeal2 T C 9: 110,461,826 (GRCm39) N1510D possibly damaging Het
Ndufaf7 A G 17: 79,251,281 (GRCm39) R229G probably damaging Het
Nphp4 G A 4: 152,640,839 (GRCm39) V1069M probably benign Het
Nsd2 A G 5: 34,022,031 (GRCm39) H528R probably benign Het
Or10p21 A T 10: 128,847,696 (GRCm39) I181F probably damaging Het
Or7a39 A G 10: 78,715,671 (GRCm39) I222V possibly damaging Het
Pigh A C 12: 79,132,634 (GRCm39) probably benign Het
Prr14l A T 5: 32,986,150 (GRCm39) M1115K probably benign Het
Psg21 T C 7: 18,388,750 (GRCm39) D114G probably damaging Het
Psmg2 G A 18: 67,786,293 (GRCm39) V218I probably benign Het
Pygb T C 2: 150,672,393 (GRCm39) S831P probably benign Het
Ryr2 T A 13: 11,736,647 (GRCm39) D2260V probably damaging Het
Sgo2a T C 1: 58,057,133 (GRCm39) S1106P probably damaging Het
Slc5a5 G A 8: 71,343,976 (GRCm39) probably benign Het
Tekt4 A G 17: 25,695,358 (GRCm39) D397G probably benign Het
Trrap T A 5: 144,770,097 (GRCm39) probably benign Het
Upf2 T C 2: 6,023,750 (GRCm39) probably benign Het
Usp17lb A T 7: 104,489,588 (GRCm39) N445K possibly damaging Het
Vmn2r111 A G 17: 22,790,373 (GRCm39) V211A probably damaging Het
Vmn2r23 A G 6: 123,681,366 (GRCm39) I91M probably damaging Het
Vps13b C T 15: 35,877,635 (GRCm39) probably benign Het
Zc3hc1 G A 6: 30,390,862 (GRCm39) T47I probably benign Het
Other mutations in Or4k48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01393:Or4k48 APN 2 111,475,601 (GRCm39) missense probably damaging 1.00
IGL02605:Or4k48 APN 2 111,475,850 (GRCm39) missense probably benign 0.00
IGL02652:Or4k48 APN 2 111,475,839 (GRCm39) missense probably benign 0.16
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 2013-12-09