Incidental Mutation 'IGL03248:Or51f23'
ID 414477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51f23
Ensembl Gene ENSMUSG00000048469
Gene Name olfactory receptor family 51 subfamily F member 23
Synonyms GA_x6K02T2PBJ9-5513635-5514627, MOR14-10, Olfr564
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL03248
Quality Score
Status
Chromosome 7
Chromosomal Location 102452687-102453637 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 102452846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 54 (Q54*)
Ref Sequence ENSEMBL: ENSMUSP00000129376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061096]
AlphaFold E9PWA8
Predicted Effect probably null
Transcript: ENSMUST00000061096
AA Change: Q54*
SMART Domains Protein: ENSMUSP00000129376
Gene: ENSMUSG00000048469
AA Change: Q54*

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.6e-117 PFAM
Pfam:7TM_GPCR_Srsx 38 256 4.7e-8 PFAM
Pfam:7tm_1 43 294 2.5e-20 PFAM
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,290 (GRCm39) F116S probably damaging Het
Accsl A G 2: 93,693,129 (GRCm39) probably benign Het
Adgrl2 T A 3: 148,523,036 (GRCm39) E165V probably damaging Het
Alb T C 5: 90,609,573 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgef10 T C 8: 14,978,847 (GRCm39) V38A probably benign Het
Astn2 A G 4: 65,664,530 (GRCm39) probably benign Het
Bahcc1 G A 11: 120,159,235 (GRCm39) R154H probably damaging Het
Cep120 A G 18: 53,868,844 (GRCm39) Y112H probably benign Het
Chrna5 C T 9: 54,911,923 (GRCm39) T241I probably damaging Het
Clasp1 A G 1: 118,530,206 (GRCm39) S1215G probably benign Het
Ddx21 C T 10: 62,427,769 (GRCm39) R378Q possibly damaging Het
Dnah1 A T 14: 30,991,846 (GRCm39) L3052Q probably damaging Het
Dyrk4 G T 6: 126,861,016 (GRCm39) T445K probably benign Het
Ercc4 T C 16: 12,945,457 (GRCm39) W291R probably damaging Het
Flvcr1 A G 1: 190,757,939 (GRCm39) W76R probably damaging Het
Frmd3 A G 4: 74,046,455 (GRCm39) I132V possibly damaging Het
Gnb4 T C 3: 32,639,324 (GRCm39) D323G probably damaging Het
Hnrnpc G A 14: 52,312,896 (GRCm39) probably benign Het
Hnrnpl T C 7: 28,513,505 (GRCm39) S202P probably benign Het
Hydin T A 8: 111,321,921 (GRCm39) F4524L probably damaging Het
Iars2 A G 1: 185,023,629 (GRCm39) probably benign Het
Ino80d A G 1: 63,107,341 (GRCm39) probably null Het
Itga8 C A 2: 12,137,327 (GRCm39) A13S probably benign Het
Man2a1 T C 17: 65,020,606 (GRCm39) F794S probably damaging Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Nup93 T C 8: 95,032,716 (GRCm39) L411P probably damaging Het
Plin1 C T 7: 79,372,382 (GRCm39) V86I probably damaging Het
Rgs6 A G 12: 83,099,324 (GRCm39) probably benign Het
Shroom3 C T 5: 93,100,399 (GRCm39) P1473S probably benign Het
Slc12a8 A G 16: 33,371,397 (GRCm39) I178V probably damaging Het
Slc20a2 T A 8: 23,048,999 (GRCm39) S219T probably benign Het
Tasor C T 14: 27,198,649 (GRCm39) T1327I probably damaging Het
Tfeb T C 17: 48,097,920 (GRCm39) M36T probably benign Het
Trim33 G A 3: 103,218,289 (GRCm39) probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Tulp1 T C 17: 28,578,298 (GRCm39) K276E possibly damaging Het
Uvssa T A 5: 33,549,160 (GRCm39) I340N probably damaging Het
Vmn1r32 T A 6: 66,529,897 (GRCm39) N293I possibly damaging Het
Xpc T C 6: 91,481,565 (GRCm39) N250S probably damaging Het
Ybey T C 10: 76,304,161 (GRCm39) I14V probably benign Het
Zfhx3 T C 8: 109,673,182 (GRCm39) Y1411H probably damaging Het
Other mutations in Or51f23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Or51f23 APN 7 102,453,061 (GRCm39) nonsense probably null
R1108:Or51f23 UTSW 7 102,453,057 (GRCm39) missense probably benign 0.08
R1395:Or51f23 UTSW 7 102,453,414 (GRCm39) missense possibly damaging 0.90
R1422:Or51f23 UTSW 7 102,453,057 (GRCm39) missense probably benign 0.08
R4032:Or51f23 UTSW 7 102,453,396 (GRCm39) missense probably benign 0.00
R5168:Or51f23 UTSW 7 102,453,528 (GRCm39) missense probably benign
R5269:Or51f23 UTSW 7 102,453,327 (GRCm39) missense probably benign
R5639:Or51f23 UTSW 7 102,453,200 (GRCm39) missense probably benign
R5930:Or51f23 UTSW 7 102,453,481 (GRCm39) missense probably damaging 1.00
R6019:Or51f23 UTSW 7 102,453,491 (GRCm39) nonsense probably null
R7206:Or51f23 UTSW 7 102,452,891 (GRCm39) missense probably damaging 1.00
R7254:Or51f23 UTSW 7 102,452,765 (GRCm39) missense probably benign
R7845:Or51f23 UTSW 7 102,453,492 (GRCm39) missense not run
R8036:Or51f23 UTSW 7 102,452,763 (GRCm39) missense possibly damaging 0.87
R8730:Or51f23 UTSW 7 102,453,348 (GRCm39) missense probably benign 0.00
R9156:Or51f23 UTSW 7 102,453,339 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02