Incidental Mutation 'IGL02104:Or55b3'
ID 279905
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: 0.087) question?
Stock # IGL02104
Quality Score
Status
Chromosome 7
Chromosomal Location 102125980-102127109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102126544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 178 (V178F)
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 probably damaging
Transcript: ENSMUST00000061482
AA Change: V178F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: V178F

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 probably damaging
Transcript: ENSMUST00000219647
AA Change: V178F

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Gars1 A G 6: 55,054,682 (GRCm39) D663G probably damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L 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
IGL02124:Or55b3 APN 7 102,126,742 (GRCm39) missense possibly damaging 0.63
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