Incidental Mutation 'IGL03139:Or52b4'
ID 410624
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: 0.114) question?
Stock # IGL03139
Quality Score
Status
Chromosome 7
Chromosomal Location 102183956-102184891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102184517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 188 (K188E)
Ref Sequence ENSEMBL: ENSMUSP00000095831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098229]
AlphaFold E9PXN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000098229
AA Change: K188E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095831
Gene: ENSMUSG00000073979
AA Change: K188E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,391,067 (GRCm39) F97L probably benign Het
Acad10 T C 5: 121,764,145 (GRCm39) Y928C probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Atxn7 T C 14: 14,052,994 (GRCm38) V144A probably damaging Het
Baiap2l2 T A 15: 79,155,753 (GRCm39) N107I probably damaging Het
Cd180 A G 13: 102,842,924 (GRCm39) K657E probably damaging Het
Cep192 T C 18: 67,961,547 (GRCm39) probably null Het
Cma2 A G 14: 56,211,256 (GRCm39) I183V probably damaging Het
Col18a1 C A 10: 76,949,177 (GRCm39) A112S possibly damaging Het
Ctu2 A G 8: 123,205,446 (GRCm39) D100G possibly damaging Het
Defb29 T C 2: 152,380,812 (GRCm39) K66E probably damaging Het
Dis3l T A 9: 64,219,232 (GRCm39) D566V probably damaging Het
Dtx1 C A 5: 120,832,955 (GRCm39) R161L probably damaging Het
Efcab6 T A 15: 83,836,422 (GRCm39) L436F probably benign Het
Fip1l1 A G 5: 74,731,776 (GRCm39) I254V possibly damaging Het
Gid8 C A 2: 180,356,501 (GRCm39) A46E probably damaging Het
Grm8 G T 6: 27,618,649 (GRCm39) Q398K probably damaging Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Iigp1c T C 18: 60,379,221 (GRCm39) V252A probably benign Het
Kcnt1 T C 2: 25,784,480 (GRCm39) probably benign Het
Lrrc8a T C 2: 30,145,683 (GRCm39) S166P probably damaging Het
Map2k6 A T 11: 110,387,299 (GRCm39) probably benign Het
Mmab A G 5: 114,571,405 (GRCm39) L157P probably damaging Het
Mmrn1 A T 6: 60,953,324 (GRCm39) E535V probably damaging Het
Mup4 T C 4: 59,958,482 (GRCm39) probably benign Het
Nup210 A G 6: 90,997,221 (GRCm39) S820P probably benign Het
Pik3cg T C 12: 32,242,222 (GRCm39) I963V probably damaging Het
Plcg1 T C 2: 160,590,049 (GRCm39) probably null Het
Plscr1 T C 9: 92,148,438 (GRCm39) probably benign Het
Prss36 C T 7: 127,532,783 (GRCm39) G202E probably damaging Het
Psen2 A T 1: 180,068,350 (GRCm39) V101E probably damaging Het
Saxo1 T C 4: 86,405,999 (GRCm39) M67V possibly damaging Het
Sfrp4 G A 13: 19,807,728 (GRCm39) M42I probably damaging Het
Strn3 C A 12: 51,699,633 (GRCm39) probably benign Het
Tgfb1i1 C A 7: 127,848,476 (GRCm39) P197Q possibly damaging Het
Thsd4 A G 9: 59,904,456 (GRCm39) V580A probably benign Het
Tjp1 C A 7: 64,990,182 (GRCm39) probably benign Het
Tprn C T 2: 25,154,066 (GRCm39) A456V probably benign Het
Ttc34 T C 4: 154,945,727 (GRCm39) Y763H probably benign Het
Ttn T C 2: 76,601,507 (GRCm39) T18686A probably benign Het
Uggt2 T A 14: 119,332,722 (GRCm39) T71S probably benign Het
Vmn2r120 T A 17: 57,831,742 (GRCm39) Y349F probably benign Het
Zbtb41 A G 1: 139,351,576 (GRCm39) T230A probably benign Het
Other mutations in Or52b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Or52b4 APN 7 102,184,140 (GRCm39) missense probably benign 0.31
IGL01522:Or52b4 APN 7 102,184,391 (GRCm39) missense probably damaging 0.97
IGL02182:Or52b4 APN 7 102,184,775 (GRCm39) missense probably benign 0.00
IGL02669:Or52b4 APN 7 102,184,868 (GRCm39) missense probably benign
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 2016-08-02