Incidental Mutation 'IGL01522:Or52b4'
ID 89429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52b4
Ensembl Gene ENSMUSG00000073979
Gene Name olfactory receptor family 52 subfamily B member 4
Synonyms MOR31-4, Olfr547, GA_x6K02T2PBJ9-5256044-5256988
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # IGL01522
Quality Score
Status
Chromosome 7
Chromosomal Location 102183956-102184891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102184391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 146 (I146F)
Ref Sequence ENSEMBL: ENSMUSP00000095831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098229]
AlphaFold E9PXN3
Predicted Effect probably damaging
Transcript: ENSMUST00000098229
AA Change: I146F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095831
Gene: ENSMUSG00000073979
AA Change: I146F

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.1e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 277 6.7e-10 PFAM
Pfam:7tm_1 43 294 1.2e-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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T C 15: 11,065,245 (GRCm39) probably null Het
Adamts3 T C 5: 89,850,802 (GRCm39) N579S probably benign Het
Akr1c19 A G 13: 4,289,098 (GRCm39) probably benign Het
Ankrd39 T A 1: 36,581,142 (GRCm39) H69L probably damaging Het
Apcdd1 T A 18: 63,085,186 (GRCm39) M461K possibly damaging Het
Bpifa3 G A 2: 153,979,502 (GRCm39) C209Y probably damaging Het
Cep131 T C 11: 119,957,989 (GRCm39) E779G probably benign Het
Cep85 T C 4: 133,879,566 (GRCm39) Q394R probably damaging Het
Cep85 G T 4: 133,879,567 (GRCm39) Q394K probably damaging Het
Clcn6 T C 4: 148,101,992 (GRCm39) Y364C probably benign Het
Fetub G A 16: 22,748,391 (GRCm39) M1I probably null Het
Greb1 T C 12: 16,751,202 (GRCm39) I1003V probably damaging Het
Hsf3 A G X: 95,364,200 (GRCm39) probably benign Het
Jcad A G 18: 4,673,312 (GRCm39) N358S probably damaging Het
Kndc1 T C 7: 139,493,888 (GRCm39) probably benign Het
Lama1 A T 17: 68,059,769 (GRCm39) probably benign Het
Mark2 A G 19: 7,258,603 (GRCm39) V50A probably benign Het
Mmp7 T C 9: 7,692,229 (GRCm39) W35R probably damaging Het
Ndc80 A G 17: 71,806,320 (GRCm39) V578A probably benign Het
Nfyc T C 4: 120,638,721 (GRCm39) E42G probably damaging Het
Or1j15 A G 2: 36,459,233 (GRCm39) T208A probably benign Het
Or5d37 T C 2: 87,923,360 (GRCm39) K307E possibly damaging Het
Or8g21 A T 9: 38,906,396 (GRCm39) C112S probably benign Het
Or9i16 A T 19: 13,864,722 (GRCm39) L284* probably null Het
Pcdha11 T C 18: 37,318,061 (GRCm39) F925L probably damaging Het
Pdcd1 T G 1: 93,968,571 (GRCm39) R154S probably benign Het
Pepd T A 7: 34,623,865 (GRCm39) D87E probably benign Het
Pfn4 A G 12: 4,820,240 (GRCm39) T30A probably benign Het
Pgpep1l A G 7: 67,887,456 (GRCm39) M48T possibly damaging Het
Pla2g15 A G 8: 106,889,748 (GRCm39) N340S probably benign Het
Plcb4 A G 2: 135,844,547 (GRCm39) D155G probably damaging Het
Plg G A 17: 12,622,956 (GRCm39) G499S probably damaging Het
Plin3 C T 17: 56,587,799 (GRCm39) W305* probably null Het
Polq C A 16: 36,848,265 (GRCm39) L291I probably damaging Het
Sanbr A G 11: 23,532,865 (GRCm39) probably null Het
Sdf2l1 T A 16: 16,950,014 (GRCm39) H54L probably damaging Het
Slc38a2 C T 15: 96,590,936 (GRCm39) D276N possibly damaging Het
Syk A G 13: 52,797,097 (GRCm39) T576A probably benign Het
Tas2r119 G A 15: 32,178,339 (GRCm39) V302I probably benign Het
Uso1 T C 5: 92,329,278 (GRCm39) F389L probably damaging Het
Wwc2 T A 8: 48,321,668 (GRCm39) Y482F unknown Het
Other mutations in Or52b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Or52b4 APN 7 102,184,140 (GRCm39) missense probably benign 0.31
IGL02182:Or52b4 APN 7 102,184,775 (GRCm39) missense probably benign 0.00
IGL02669:Or52b4 APN 7 102,184,868 (GRCm39) missense probably benign
IGL03139:Or52b4 APN 7 102,184,517 (GRCm39) missense possibly damaging 0.95
FR4976:Or52b4 UTSW 7 102,184,888 (GRCm39) makesense probably null
R1246:Or52b4 UTSW 7 102,184,149 (GRCm39) missense probably damaging 1.00
R2884:Or52b4 UTSW 7 102,184,439 (GRCm39) missense probably benign 0.03
R3852:Or52b4 UTSW 7 102,184,487 (GRCm39) missense probably benign 0.01
R4686:Or52b4 UTSW 7 102,184,356 (GRCm39) missense probably damaging 1.00
R4879:Or52b4 UTSW 7 102,183,962 (GRCm39) missense probably benign 0.00
R6169:Or52b4 UTSW 7 102,184,479 (GRCm39) missense probably benign 0.02
R6213:Or52b4 UTSW 7 102,184,139 (GRCm39) missense probably damaging 1.00
R7080:Or52b4 UTSW 7 102,184,172 (GRCm39) missense possibly damaging 0.91
R7966:Or52b4 UTSW 7 102,184,623 (GRCm39) missense probably damaging 1.00
R8510:Or52b4 UTSW 7 102,184,170 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-03