Incidental Mutation 'IGL02314:Or52b3'
ID 287928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or52b3
Ensembl Gene ENSMUSG00000073977
Gene Name olfactory receptor family 52 subfamily B member 3
Synonyms MOR31-3, Olfr549, GA_x6K02T2PBJ9-5274337-5275287
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02314
Quality Score
Status
Chromosome 7
Chromosomal Location 102203493-102204443 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102204318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 276 (I276F)
Ref Sequence ENSEMBL: ENSMUSP00000150373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033264] [ENSMUST00000098227] [ENSMUST00000106913] [ENSMUST00000217478]
AlphaFold E9Q542
Predicted Effect probably benign
Transcript: ENSMUST00000033264
SMART Domains Protein: ENSMUSP00000033264
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000098227
AA Change: I276F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095829
Gene: ENSMUSG00000073977
AA Change: I276F

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.7e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 225 1.2e-11 PFAM
Pfam:7tm_1 43 294 1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106913
SMART Domains Protein: ENSMUSP00000102526
Gene: ENSMUSG00000030966

DomainStartEndE-ValueType
RING 12 50 6e-8 SMART
BBOX 83 124 2.71e-15 SMART
coiled coil region 184 242 N/A INTRINSIC
PRY 282 334 1.08e-23 SMART
SPRY 335 461 8.9e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000217478
AA Change: I276F

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 T A 4: 47,472,143 (GRCm39) K94* probably null Het
Axl A G 7: 25,486,345 (GRCm39) F120L possibly damaging Het
Baz2b A G 2: 59,792,571 (GRCm39) V519A probably benign Het
Cdk2 A T 10: 128,539,595 (GRCm39) I99N probably damaging Het
Ces1b C A 8: 93,791,524 (GRCm39) W358C possibly damaging Het
Cimap1b T G 15: 89,262,372 (GRCm39) K82N probably damaging Het
Clca3b A G 3: 144,533,903 (GRCm39) probably benign Het
Col6a4 T G 9: 105,874,355 (GRCm39) T2211P probably damaging Het
Cyp4f14 C T 17: 33,125,265 (GRCm39) E438K probably benign Het
Dpy19l4 T A 4: 11,267,720 (GRCm39) T407S possibly damaging Het
Dtx3 G A 10: 127,026,828 (GRCm39) probably benign Het
Eif1ad14 T A 12: 87,886,377 (GRCm39) Y84F probably benign Het
Fat3 A T 9: 15,881,134 (GRCm39) L3246H possibly damaging Het
Fat4 A T 3: 38,941,779 (GRCm39) D224V probably damaging Het
Fndc9 A T 11: 46,129,122 (GRCm39) I214F probably benign Het
Foxred1 A T 9: 35,117,264 (GRCm39) I22N probably damaging Het
Gkn1 T C 6: 87,326,103 (GRCm39) D29G probably benign Het
Gng11 T A 6: 4,004,317 (GRCm39) M1K probably null Het
Hdac7 T C 15: 97,706,885 (GRCm39) D237G probably damaging Het
Hgf A G 5: 16,777,600 (GRCm39) Y199C probably damaging Het
Hgfac A T 5: 35,198,941 (GRCm39) M1L probably benign Het
Hsd17b6 T C 10: 127,833,777 (GRCm39) T35A probably damaging Het
Htr3a G A 9: 48,815,927 (GRCm39) P170L probably damaging Het
Ighv12-3 A G 12: 114,330,421 (GRCm39) S25P probably damaging Het
Jph2 A T 2: 163,239,273 (GRCm39) N58K probably damaging Het
Lama5 A G 2: 179,836,275 (GRCm39) probably benign Het
Lpin3 T A 2: 160,740,638 (GRCm39) Y394* probably null Het
Macf1 G T 4: 123,338,630 (GRCm39) T2248K probably damaging Het
Map3k2 A G 18: 32,351,553 (GRCm39) probably benign Het
Map4k5 G A 12: 69,865,213 (GRCm39) P524S probably benign Het
Mcf2l C T 8: 13,051,851 (GRCm39) S359L probably damaging Het
Mdh1b C T 1: 63,750,273 (GRCm39) probably null Het
Mfhas1 G A 8: 36,055,927 (GRCm39) R134H probably damaging Het
Mogs A G 6: 83,095,036 (GRCm39) T618A probably benign Het
Mybpc2 T A 7: 44,171,812 (GRCm39) Q39H possibly damaging Het
Myoc C T 1: 162,466,917 (GRCm39) R29W probably damaging Het
Nae1 A G 8: 105,252,938 (GRCm39) M162T probably damaging Het
Nfatc3 A G 8: 106,805,532 (GRCm39) I126V probably benign Het
Nxnl2 C A 13: 51,325,565 (GRCm39) F69L probably benign Het
Oca2 T A 7: 56,006,899 (GRCm39) I662N probably benign Het
Or5w8 A G 2: 87,688,400 (GRCm39) N294D probably damaging Het
Or7c70 A T 10: 78,683,099 (GRCm39) S217T probably damaging Het
Or7e176 A T 9: 20,171,774 (GRCm39) I213L probably benign Het
Pcdhb14 G A 18: 37,583,248 (GRCm39) E785K probably benign Het
Plb1 A C 5: 32,438,492 (GRCm39) Y209S possibly damaging Het
Pramel24 T C 4: 143,455,012 (GRCm39) S437P probably benign Het
Rab44 C A 17: 29,358,327 (GRCm39) Q172K probably benign Het
Rnf214 A T 9: 45,811,105 (GRCm39) V186E probably benign Het
Rps6ka1 C A 4: 133,578,065 (GRCm39) G522W probably damaging Het
Samhd1 G T 2: 156,976,948 (GRCm39) T21K probably damaging Het
Scly A G 1: 91,246,763 (GRCm39) Y358C probably benign Het
Sfxn2 A G 19: 46,571,026 (GRCm39) N29D possibly damaging Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slc44a5 G A 3: 153,962,156 (GRCm39) S363N probably damaging Het
Smg1 A G 7: 117,753,932 (GRCm39) probably benign Het
Tas1r3 A T 4: 155,945,119 (GRCm39) C701S probably damaging Het
Tmem87a A G 2: 120,234,502 (GRCm39) S14P possibly damaging Het
Trmt6 G A 2: 132,647,378 (GRCm39) A486V probably benign Het
Ttn G A 2: 76,727,091 (GRCm39) R1602* probably null Het
Ush2a A G 1: 188,365,826 (GRCm39) M2227V probably benign Het
Vmn2r96 A T 17: 18,804,221 (GRCm39) Q490H probably benign Het
Wdr19 G T 5: 65,414,463 (GRCm39) A1279S probably benign Het
Zbtb7c G A 18: 76,278,937 (GRCm39) R465H probably damaging Het
Zfp473 T C 7: 44,383,353 (GRCm39) S326G probably benign Het
Other mutations in Or52b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Or52b3 APN 7 102,204,098 (GRCm39) missense probably damaging 1.00
IGL02048:Or52b3 APN 7 102,204,090 (GRCm39) missense probably damaging 1.00
IGL03154:Or52b3 APN 7 102,203,913 (GRCm39) missense probably benign
R0783:Or52b3 UTSW 7 102,203,646 (GRCm39) missense probably benign 0.01
R2009:Or52b3 UTSW 7 102,204,151 (GRCm39) missense probably damaging 1.00
R2145:Or52b3 UTSW 7 102,204,267 (GRCm39) splice site probably null
R3547:Or52b3 UTSW 7 102,203,677 (GRCm39) missense probably damaging 1.00
R6843:Or52b3 UTSW 7 102,203,928 (GRCm39) missense probably benign
R7294:Or52b3 UTSW 7 102,204,160 (GRCm39) missense probably damaging 1.00
R7533:Or52b3 UTSW 7 102,203,718 (GRCm39) missense probably damaging 1.00
R9354:Or52b3 UTSW 7 102,204,397 (GRCm39) missense possibly damaging 0.82
R9485:Or52b3 UTSW 7 102,204,013 (GRCm39) missense probably damaging 0.98
X0018:Or52b3 UTSW 7 102,203,935 (GRCm39) missense probably benign 0.00
Z1177:Or52b3 UTSW 7 102,204,178 (GRCm39) missense probably benign
Posted On 2015-04-16