Incidental Mutation 'IGL02743:Or51f5'
ID 305966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51f5
Ensembl Gene ENSMUSG00000073966
Gene Name olfactory receptor family 51 subfamily F member 5
Synonyms GA_x6K02T2PBJ9-5491151-5492095, Olfr561, MOR14-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL02743
Quality Score
Status
Chromosome 7
Chromosomal Location 102423733-102424677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102424505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 258 (I258N)
Ref Sequence ENSEMBL: ENSMUSP00000150963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098217] [ENSMUST00000213432]
AlphaFold Q8VGZ6
Predicted Effect probably damaging
Transcript: ENSMUST00000098217
AA Change: I258N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000095819
Gene: ENSMUSG00000073966
AA Change: I258N

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 5.1e-122 PFAM
Pfam:7TM_GPCR_Srsx 37 259 9.6e-8 PFAM
Pfam:7tm_1 43 294 4.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213432
AA Change: I258N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn A C 5: 88,612,343 (GRCm39) D188A probably damaging Het
Arfgef1 T C 1: 10,270,054 (GRCm39) E365G probably benign Het
Arhgef10 C T 8: 14,980,198 (GRCm39) A146V probably benign Het
AW554918 C T 18: 25,423,001 (GRCm39) Q151* probably null Het
Chd6 T C 2: 160,802,183 (GRCm39) D2217G probably damaging Het
Cntn5 T A 9: 9,984,115 (GRCm39) E166V probably damaging Het
Cyp4f15 T C 17: 32,918,926 (GRCm39) S319P possibly damaging Het
Dna2 G A 10: 62,792,821 (GRCm39) V279I possibly damaging Het
Edrf1 A G 7: 133,258,220 (GRCm39) probably benign Het
Fmo3 A T 1: 162,786,052 (GRCm39) F313I probably damaging Het
Kcnj10 A G 1: 172,197,221 (GRCm39) D245G possibly damaging Het
Lrsam1 T C 2: 32,818,661 (GRCm39) probably null Het
Mfn1 A T 3: 32,628,439 (GRCm39) H690L probably benign Het
Msh2 T C 17: 88,014,643 (GRCm39) F474L probably damaging Het
Nlrp4a T G 7: 26,159,240 (GRCm39) probably benign Het
Or2t44 T A 11: 58,677,606 (GRCm39) L182* probably null Het
Or4d10b A G 19: 12,036,811 (GRCm39) F102L probably damaging Het
Or4k45 T A 2: 111,394,888 (GRCm39) R300S possibly damaging Het
Or52n2c T C 7: 104,574,075 (GRCm39) T299A probably damaging Het
Or8g35 G A 9: 39,381,542 (GRCm39) T160I probably benign Het
Plcxd3 G A 15: 4,604,285 (GRCm39) V298I possibly damaging Het
Prrc2b C T 2: 32,084,441 (GRCm39) S302F probably damaging Het
Serpine2 A T 1: 79,779,272 (GRCm39) F149I probably damaging Het
Slc24a5 T C 2: 124,930,154 (GRCm39) L485P probably damaging Het
Spg11 T A 2: 121,889,988 (GRCm39) H2118L probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stxbp1 T C 2: 32,709,913 (GRCm39) D60G probably damaging Het
Themis2 T A 4: 132,510,795 (GRCm39) E582D probably benign Het
Tmem131 T G 1: 36,832,232 (GRCm39) I1802L probably benign Het
Tnrc6a A G 7: 122,770,696 (GRCm39) K829E probably damaging Het
Usp8 T C 2: 126,575,943 (GRCm39) M213T probably damaging Het
Wnk2 A G 13: 49,248,920 (GRCm39) V377A probably damaging Het
Wwox T G 8: 116,078,443 (GRCm39) Y375D probably damaging Het
Other mutations in Or51f5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02260:Or51f5 APN 7 102,424,114 (GRCm39) missense probably damaging 0.99
IGL03001:Or51f5 APN 7 102,424,460 (GRCm39) missense probably damaging 0.98
R0254:Or51f5 UTSW 7 102,424,076 (GRCm39) nonsense probably null
R0356:Or51f5 UTSW 7 102,424,286 (GRCm39) missense probably damaging 1.00
R0514:Or51f5 UTSW 7 102,424,539 (GRCm39) missense probably benign 0.00
R0725:Or51f5 UTSW 7 102,423,739 (GRCm39) missense probably benign
R0739:Or51f5 UTSW 7 102,423,872 (GRCm39) missense probably damaging 1.00
R1900:Or51f5 UTSW 7 102,424,538 (GRCm39) missense probably benign 0.19
R2080:Or51f5 UTSW 7 102,424,450 (GRCm39) missense probably benign 0.02
R2212:Or51f5 UTSW 7 102,423,962 (GRCm39) missense possibly damaging 0.77
R2379:Or51f5 UTSW 7 102,424,052 (GRCm39) missense probably benign 0.33
R3412:Or51f5 UTSW 7 102,423,962 (GRCm39) missense possibly damaging 0.77
R3834:Or51f5 UTSW 7 102,424,493 (GRCm39) missense probably damaging 1.00
R4117:Or51f5 UTSW 7 102,423,684 (GRCm39) splice site probably null
R4363:Or51f5 UTSW 7 102,424,463 (GRCm39) missense probably benign 0.34
R4401:Or51f5 UTSW 7 102,424,006 (GRCm39) nonsense probably null
R5176:Or51f5 UTSW 7 102,424,513 (GRCm39) missense probably damaging 0.99
R5464:Or51f5 UTSW 7 102,424,640 (GRCm39) missense probably benign 0.00
R5465:Or51f5 UTSW 7 102,424,640 (GRCm39) missense probably benign 0.00
R5493:Or51f5 UTSW 7 102,424,315 (GRCm39) missense probably benign 0.00
R5540:Or51f5 UTSW 7 102,424,136 (GRCm39) missense probably benign 0.02
R5629:Or51f5 UTSW 7 102,423,847 (GRCm39) missense possibly damaging 0.63
R6227:Or51f5 UTSW 7 102,423,883 (GRCm39) missense probably damaging 0.98
R6367:Or51f5 UTSW 7 102,424,036 (GRCm39) missense possibly damaging 0.92
R6497:Or51f5 UTSW 7 102,424,657 (GRCm39) missense probably benign 0.00
R7219:Or51f5 UTSW 7 102,430,913 (GRCm39) missense probably benign 0.00
R7243:Or51f5 UTSW 7 102,430,865 (GRCm39) missense probably benign
R7289:Or51f5 UTSW 7 102,424,634 (GRCm39) missense probably damaging 1.00
R7560:Or51f5 UTSW 7 102,430,889 (GRCm39) missense probably damaging 1.00
R7731:Or51f5 UTSW 7 102,424,141 (GRCm39) missense probably benign 0.05
R7982:Or51f5 UTSW 7 102,424,310 (GRCm39) missense probably damaging 1.00
R8025:Or51f5 UTSW 7 102,424,463 (GRCm39) missense probably benign 0.34
R8222:Or51f5 UTSW 7 102,424,099 (GRCm39) missense probably damaging 1.00
R8304:Or51f5 UTSW 7 102,423,917 (GRCm39) missense possibly damaging 0.48
R8404:Or51f5 UTSW 7 102,424,134 (GRCm39) nonsense probably null
R8540:Or51f5 UTSW 7 102,424,339 (GRCm39) missense possibly damaging 0.61
Posted On 2015-04-16