Incidental Mutation 'IGL02969:Or4f57'
ID 365716
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 # IGL02969
Quality Score
Status
Chromosome 2
Chromosomal Location 111790454-111791416 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111790912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 169 (C169S)
Ref Sequence ENSEMBL: ENSMUSP00000146688 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099605] [ENSMUST00000207560]
AlphaFold Q7TQX0
Predicted Effect probably damaging
Transcript: ENSMUST00000099605
AA Change: C169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: C169S

DomainStartEndE-ValueType
Pfam:7tm_4 30 305 2.2e-39 PFAM
Pfam:7tm_1 41 287 3.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207560
AA Change: C169S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik A G 8: 79,946,866 (GRCm39) probably benign Het
Acsbg3 A T 17: 57,190,751 (GRCm39) T440S probably damaging Het
Akap12 T A 10: 4,304,864 (GRCm39) V558E probably damaging Het
Atg4c T C 4: 99,146,624 (GRCm39) probably benign Het
Atg7 T A 6: 114,701,884 (GRCm39) N673K possibly damaging Het
Brpf3 A G 17: 29,040,279 (GRCm39) D900G probably benign Het
C2cd5 T C 6: 143,025,669 (GRCm39) Y176C probably damaging Het
Cep70 A T 9: 99,180,557 (GRCm39) I571F possibly damaging Het
Cir1 C T 2: 73,134,120 (GRCm39) G150R probably null Het
Cyp46a1 T C 12: 108,309,296 (GRCm39) V68A probably damaging Het
Dlgap2 A G 8: 14,881,579 (GRCm39) T883A possibly damaging Het
Dnah2 C A 11: 69,412,013 (GRCm39) K249N possibly damaging Het
Dnajc11 A G 4: 152,062,503 (GRCm39) K434R probably benign Het
Eri3 A G 4: 117,506,508 (GRCm39) Y279C probably damaging Het
Hectd4 T A 5: 121,503,116 (GRCm39) Y4362N possibly damaging Het
Ilk A G 7: 105,389,547 (GRCm39) K85E possibly damaging Het
Insrr G T 3: 87,721,498 (GRCm39) G1135* probably null Het
Itgax T A 7: 127,748,295 (GRCm39) M1108K probably benign Het
Mpzl3 C T 9: 44,979,514 (GRCm39) T155I probably benign Het
Or6c212 A T 10: 129,559,065 (GRCm39) M116K probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2h A G 16: 20,537,807 (GRCm39) Y68C probably damaging Het
Pramel47 C T 5: 95,489,258 (GRCm39) P234S probably benign Het
Rhobtb3 A G 13: 76,091,550 (GRCm39) S2P probably damaging Het
Slc24a5 T C 2: 124,925,147 (GRCm39) S263P probably damaging Het
Spz1 T G 13: 92,711,851 (GRCm39) K208N possibly damaging Het
Tbpl2 C A 2: 23,981,105 (GRCm39) C231F probably damaging Het
Tdrd6 T C 17: 43,938,440 (GRCm39) I869M probably damaging Het
Tesk1 G A 4: 43,447,027 (GRCm39) E472K possibly damaging Het
Tesk1 C A 4: 43,447,026 (GRCm39) C471* probably null Het
Thoc2l C T 5: 104,667,209 (GRCm39) T577I probably benign Het
Tmem213 T A 6: 38,092,601 (GRCm39) V111E probably damaging Het
Tmem232 A T 17: 65,563,558 (GRCm39) Y612N possibly damaging Het
Ttn T C 2: 76,729,707 (GRCm39) probably benign Het
Vmn2r113 G A 17: 23,177,591 (GRCm39) V792I probably benign Het
Wdfy1 A G 1: 79,691,588 (GRCm39) V273A probably benign Het
Wwp1 A G 4: 19,623,200 (GRCm39) S762P probably 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
IGL01788:Or4f57 APN 2 111,791,352 (GRCm39) missense probably benign
IGL02385:Or4f57 APN 2 111,790,603 (GRCm39) missense probably benign 0.00
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 2015-12-18