Incidental Mutation 'IGL02124:Or55b3'
ID 280778
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or55b3
Ensembl Gene ENSMUSG00000044814
Gene Name olfactory receptor family 55 subfamily B member 3
Synonyms GA_x6K02T2PBJ9-5199377-5198367, Olfr543, MOR42-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL02124
Quality Score
Status
Chromosome 7
Chromosomal Location 102125980-102127109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102126742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 112 (T112A)
Ref Sequence ENSEMBL: ENSMUSP00000151487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051201] [ENSMUST00000061482] [ENSMUST00000219647]
AlphaFold E9PWI5
Predicted Effect probably benign
Transcript: ENSMUST00000051201
SMART Domains Protein: ENSMUSP00000051280
Gene: ENSMUSG00000043925

DomainStartEndE-ValueType
Pfam:7tm_4 35 314 1.2e-73 PFAM
Pfam:7TM_GPCR_Srsx 39 311 6.3e-8 PFAM
Pfam:7tm_1 45 296 2.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000061482
AA Change: T112A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: T112A

DomainStartEndE-ValueType
Pfam:7tm_4 36 315 1.5e-70 PFAM
Pfam:7TM_GPCR_Srsx 40 312 1.3e-8 PFAM
Pfam:7tm_1 46 332 1.5e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219647
AA Change: T112A

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
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
1810024B03Rik T C 2: 127,028,654 (GRCm39) R182G possibly damaging Het
Casd1 A T 6: 4,624,142 (GRCm39) I312F probably benign Het
Cdc27 T C 11: 104,413,557 (GRCm39) T395A probably damaging Het
Cep152 A G 2: 125,405,381 (GRCm39) I1717T probably benign Het
Ces1f A T 8: 93,992,488 (GRCm39) V321E possibly damaging Het
Chrnb3 T C 8: 27,886,832 (GRCm39) probably benign Het
Col14a1 T A 15: 55,327,099 (GRCm39) F1416L unknown Het
Cplx4 T C 18: 66,103,123 (GRCm39) probably benign Het
Cubn A T 2: 13,386,648 (GRCm39) I1539N probably damaging Het
Dapk1 A G 13: 60,878,696 (GRCm39) T562A probably benign Het
Dnmt1 C A 9: 20,819,845 (GRCm39) V1433F probably damaging Het
Dytn A G 1: 63,680,251 (GRCm39) L436P probably damaging Het
Evpl T C 11: 116,117,841 (GRCm39) I783V probably benign Het
Fat4 T A 3: 38,942,553 (GRCm39) V482E probably damaging Het
Fcrlb T A 1: 170,734,927 (GRCm39) E400V probably benign Het
Folh1 T C 7: 86,374,626 (GRCm39) D656G probably damaging Het
Frem3 A C 8: 81,339,723 (GRCm39) D672A probably damaging Het
G3bp2 A G 5: 92,221,106 (GRCm39) M3T possibly damaging Het
Gm973 C T 1: 59,621,632 (GRCm39) Q26* probably null Het
Hsp90b1 T C 10: 86,541,222 (GRCm39) probably benign Het
Hspg2 G A 4: 137,246,125 (GRCm39) probably null Het
Lpin3 T C 2: 160,737,753 (GRCm39) probably null Het
Mtss2 G A 8: 111,464,256 (GRCm39) R295Q probably damaging Het
Muc5b G T 7: 141,409,369 (GRCm39) W1151L unknown Het
Myo3a A G 2: 22,467,538 (GRCm39) Y264C probably benign Het
Or4c123 A G 2: 89,127,407 (GRCm39) V69A probably benign Het
Or5p60 T A 7: 107,724,249 (GRCm39) I74L probably benign Het
Pecam1 C T 11: 106,581,807 (GRCm39) G380S probably damaging Het
Phf21a C T 2: 92,179,767 (GRCm39) T345I probably damaging Het
Polg G A 7: 79,109,485 (GRCm39) S444L probably damaging Het
Prickle1 A G 15: 93,401,027 (GRCm39) Y486H probably damaging Het
Scg5 G A 2: 113,622,382 (GRCm39) probably benign Het
Septin5 G T 16: 18,443,579 (GRCm39) D123E probably damaging Het
Skint6 G A 4: 112,944,993 (GRCm39) T483I probably benign Het
Tep1 A T 14: 51,091,581 (GRCm39) probably benign Het
Tepsin T C 11: 119,982,547 (GRCm39) R440G probably benign Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Trpm4 A T 7: 44,959,947 (GRCm39) V649E probably damaging Het
Usf3 C A 16: 44,040,019 (GRCm39) Q1500K possibly damaging Het
Vmn1r231 T C 17: 21,110,568 (GRCm39) S116G probably damaging Het
Vmn1r45 T A 6: 89,910,035 (GRCm39) I312L probably benign Het
Other mutations in Or55b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01929:Or55b3 APN 7 102,126,373 (GRCm39) missense possibly damaging 0.57
IGL02074:Or55b3 APN 7 102,126,679 (GRCm39) missense probably benign 0.13
IGL02104:Or55b3 APN 7 102,126,544 (GRCm39) missense probably damaging 1.00
R0014:Or55b3 UTSW 7 102,126,684 (GRCm39) missense probably damaging 1.00
R1694:Or55b3 UTSW 7 102,126,547 (GRCm39) missense probably benign 0.11
R1826:Or55b3 UTSW 7 102,126,720 (GRCm39) missense probably damaging 1.00
R1827:Or55b3 UTSW 7 102,126,720 (GRCm39) missense probably damaging 1.00
R1828:Or55b3 UTSW 7 102,126,720 (GRCm39) missense probably damaging 1.00
R2496:Or55b3 UTSW 7 102,126,354 (GRCm39) missense probably damaging 1.00
R5117:Or55b3 UTSW 7 102,126,709 (GRCm39) missense probably damaging 1.00
R5859:Or55b3 UTSW 7 102,126,957 (GRCm39) missense possibly damaging 0.89
R6344:Or55b3 UTSW 7 102,126,738 (GRCm39) missense probably damaging 1.00
R7031:Or55b3 UTSW 7 102,127,057 (GRCm39) missense probably benign 0.03
R7426:Or55b3 UTSW 7 102,126,883 (GRCm39) missense probably damaging 1.00
R7521:Or55b3 UTSW 7 102,126,402 (GRCm39) missense possibly damaging 0.75
R7621:Or55b3 UTSW 7 102,126,472 (GRCm39) missense possibly damaging 0.93
R7981:Or55b3 UTSW 7 102,127,036 (GRCm39) missense probably damaging 1.00
R9048:Or55b3 UTSW 7 102,126,684 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16