Incidental Mutation 'IGL01359:Or4f57'
ID 75651
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 # IGL01359
Quality Score
Status
Chromosome 2
Chromosomal Location 111790454-111791416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111791406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 4 (M4K)
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: M4K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: M4K

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: M4K

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
B3gat2 T C 1: 23,802,301 (GRCm39) F196L probably damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Ckmt2 A T 13: 92,009,939 (GRCm39) I127N probably damaging Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Grk3 C A 5: 113,085,626 (GRCm39) S370I probably damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nadsyn1 T C 7: 143,374,967 (GRCm39) I30V possibly damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or52e8 T C 7: 104,625,193 (GRCm39) probably null Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in Or4f57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01317:Or4f57 APN 2 111,790,620 (GRCm39) missense possibly damaging 0.84
IGL01731:Or4f57 APN 2 111,790,980 (GRCm39) missense probably benign 0.03
IGL01788:Or4f57 APN 2 111,791,352 (GRCm39) missense probably benign
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 2013-10-07