Incidental Mutation 'IGL01788:Or4f57'
ID 155114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4f57
Ensembl Gene ENSMUSG00000074952
Gene Name olfactory receptor family 4 subfamily F member 57
Synonyms MOR245-22, Olfr1308, GA_x6K02T2Q125-73008844-73007882
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL01788
Quality Score
Status
Chromosome 2
Chromosomal Location 111790454-111791416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111791352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 22 (D22G)
Ref Sequence ENSEMBL: ENSMUSP00000146688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]
AlphaFold Q7TQX0
Predicted Effect probably benign
Transcript: ENSMUST00000099605
AA Change: D22G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: D22G

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 2.2e-39 PFAM
Pfam:7tm_1 41 287 3.1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207560
AA Change: D22G

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 50,982,542 (GRCm39) noncoding transcript Het
Acp6 A G 3: 97,073,198 (GRCm39) T80A probably damaging Het
Adamtsl5 T C 10: 80,180,757 (GRCm39) T102A probably benign Het
Adcy6 C A 15: 98,494,400 (GRCm39) E812* probably null Het
Apol6 G A 15: 76,935,216 (GRCm39) V162I possibly damaging Het
Atp6v1h T A 1: 5,220,206 (GRCm39) M396K possibly damaging Het
B3gnt8 A G 7: 25,328,613 (GRCm39) T348A probably damaging Het
Cgnl1 A G 9: 71,562,672 (GRCm39) V869A probably benign Het
Dcaf5 A T 12: 80,395,098 (GRCm39) I357N probably damaging Het
Dennd4a A G 9: 64,749,903 (GRCm39) I165V probably benign Het
Dlgap2 T A 8: 14,893,631 (GRCm39) I982K probably benign Het
Dop1a A T 9: 86,413,772 (GRCm39) H1891L probably benign Het
Fhad1 A C 4: 141,660,113 (GRCm39) S65R probably benign Het
Fn1 A G 1: 71,652,996 (GRCm39) I1331T probably damaging Het
Fto A T 8: 92,136,359 (GRCm39) Y211F probably benign Het
Gm3278 A C 14: 16,080,370 (GRCm39) R60S probably benign Het
Ifna9 A G 4: 88,510,097 (GRCm39) S176P probably damaging Het
Klk1 T C 7: 43,878,407 (GRCm39) I189T probably benign Het
Mcph1 G A 8: 18,682,419 (GRCm39) G519R probably damaging Het
Mcph1 G A 8: 18,682,420 (GRCm39) G519E probably damaging Het
N4bp1 A T 8: 87,587,624 (GRCm39) V438E probably benign Het
Ncapg T A 5: 45,828,423 (GRCm39) V58E probably damaging Het
Nid2 T A 14: 19,858,047 (GRCm39) S1054T probably damaging Het
Nlrp4a A T 7: 26,153,492 (GRCm39) Y681F probably benign Het
Or4k15c A G 14: 50,321,959 (GRCm39) Y60H probably damaging Het
Or52e19b C A 7: 103,032,770 (GRCm39) M146I probably benign Het
Or5b94 G A 19: 12,652,442 (GRCm39) R291K probably damaging Het
Papln A T 12: 83,822,236 (GRCm39) T364S probably benign Het
Pcdh18 C A 3: 49,710,371 (GRCm39) E315* probably null Het
Pmel G A 10: 128,553,701 (GRCm39) R445Q probably damaging Het
Ppp1r12b C T 1: 134,821,245 (GRCm39) V182I possibly damaging Het
Ptprn2 A G 12: 116,864,607 (GRCm39) T541A probably damaging Het
Rbl1 A T 2: 157,005,576 (GRCm39) N813K probably benign Het
Sash1 C A 10: 8,609,410 (GRCm39) R713L probably benign Het
Slc13a1 T G 6: 24,134,371 (GRCm39) T171P probably damaging Het
Slc18b1 G T 10: 23,701,899 (GRCm39) E407D probably damaging Het
Slc2a6 G A 2: 26,914,227 (GRCm39) Q297* probably null Het
Vmn1r209 T C 13: 22,989,832 (GRCm39) H286R probably damaging Het
Vmn1r28 C A 6: 58,242,522 (GRCm39) H122N probably benign Het
Wfs1 A G 5: 37,125,980 (GRCm39) Y304H probably benign Het
Zfp512b A G 2: 181,230,556 (GRCm39) S445P possibly damaging Het
Other mutations in Or4f57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Or4f57 APN 2 111,790,620 (GRCm39) missense possibly damaging 0.84
IGL01359:Or4f57 APN 2 111,791,406 (GRCm39) missense probably benign
IGL01731:Or4f57 APN 2 111,790,980 (GRCm39) missense probably benign 0.03
IGL02385:Or4f57 APN 2 111,790,603 (GRCm39) missense probably benign 0.00
IGL02969:Or4f57 APN 2 111,790,912 (GRCm39) missense probably damaging 1.00
R0102:Or4f57 UTSW 2 111,790,942 (GRCm39) missense probably damaging 1.00
R0102:Or4f57 UTSW 2 111,790,942 (GRCm39) missense probably damaging 1.00
R0244:Or4f57 UTSW 2 111,791,361 (GRCm39) missense probably benign 0.13
R0265:Or4f57 UTSW 2 111,790,839 (GRCm39) missense probably damaging 0.99
R1268:Or4f57 UTSW 2 111,791,222 (GRCm39) missense possibly damaging 0.78
R1406:Or4f57 UTSW 2 111,790,926 (GRCm39) missense probably benign 0.07
R1406:Or4f57 UTSW 2 111,790,926 (GRCm39) missense probably benign 0.07
R1568:Or4f57 UTSW 2 111,790,585 (GRCm39) missense probably benign 0.02
R2401:Or4f57 UTSW 2 111,790,494 (GRCm39) missense probably benign 0.01
R4396:Or4f57 UTSW 2 111,790,560 (GRCm39) missense probably damaging 1.00
R4528:Or4f57 UTSW 2 111,791,293 (GRCm39) missense probably damaging 1.00
R5916:Or4f57 UTSW 2 111,791,175 (GRCm39) missense probably damaging 1.00
R6332:Or4f57 UTSW 2 111,791,091 (GRCm39) missense probably damaging 0.98
R6595:Or4f57 UTSW 2 111,790,515 (GRCm39) missense possibly damaging 0.95
R7339:Or4f57 UTSW 2 111,790,956 (GRCm39) missense probably benign 0.12
R7917:Or4f57 UTSW 2 111,791,310 (GRCm39) missense probably damaging 0.98
R8017:Or4f57 UTSW 2 111,790,918 (GRCm39) missense probably damaging 0.99
R8092:Or4f57 UTSW 2 111,790,652 (GRCm39) missense probably benign 0.00
R8246:Or4f57 UTSW 2 111,790,483 (GRCm39) missense probably benign 0.05
R9389:Or4f57 UTSW 2 111,790,872 (GRCm39) missense probably damaging 1.00
R9515:Or4f57 UTSW 2 111,790,584 (GRCm39) missense possibly damaging 0.54
R9631:Or4f57 UTSW 2 111,791,377 (GRCm39) missense probably benign 0.13
Posted On 2014-02-04