Incidental Mutation 'R5117:Or55b3'
ID 392680
Institutional Source Beutler Lab
Gene Symbol Or55b3
Ensembl Gene ENSMUSG00000044814
Gene Name olfactory receptor family 55 subfamily B member 3
Synonyms GA_x6K02T2PBJ9-5199377-5198367, Olfr543, MOR42-2
MMRRC Submission 042705-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5117 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102125980-102127109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102126709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 123 (M123V)
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: M123V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: M123V

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: M123V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.5%
Validation Efficiency 100% (67/67)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik G A 9: 124,055,715 (GRCm39) T403I probably benign Het
4921509C19Rik T C 2: 151,314,460 (GRCm39) E406G probably benign Het
Abca8b T C 11: 109,857,629 (GRCm39) E641G probably damaging Het
Agrn T C 4: 156,270,010 (GRCm39) N49S probably benign Het
Cacna1b A G 2: 24,622,340 (GRCm39) S215P probably damaging Het
Cacna1g T A 11: 94,323,329 (GRCm39) I1292F probably damaging Het
Card14 T A 11: 119,229,076 (GRCm39) I662N probably damaging Het
Cep135 A G 5: 76,779,276 (GRCm39) K762R probably benign Het
Ces1b A G 8: 93,799,837 (GRCm39) probably null Het
Erich6 T G 3: 58,530,626 (GRCm39) I448L probably benign Het
Fads3 T G 19: 10,019,322 (GRCm39) probably null Het
Fam234a A G 17: 26,432,512 (GRCm39) F546L probably benign Het
Fbxl9 T A 8: 106,039,492 (GRCm39) R595* probably null Het
Gm10717 T C 9: 3,025,625 (GRCm39) L70S probably benign Het
Gm11787 G T 4: 3,509,524 (GRCm39) noncoding transcript Het
Gm5519 A G 19: 33,802,471 (GRCm39) *171W probably null Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Hmcn2 T G 2: 31,348,061 (GRCm39) C4902W possibly damaging Het
Hsp90aa1 T C 12: 110,661,698 (GRCm39) N106S possibly damaging Het
Il18 A T 9: 50,492,809 (GRCm39) N125I possibly damaging Het
Ints9 G T 14: 65,230,540 (GRCm39) E156* probably null Het
Kalrn T C 16: 33,853,971 (GRCm39) probably null Het
Klkb1 A T 8: 45,742,149 (GRCm39) D43E possibly damaging Het
Lipo3 A T 19: 33,536,952 (GRCm39) M256K probably benign Het
Mapk6 C A 9: 75,305,017 (GRCm39) M133I possibly damaging Het
Med21 T A 6: 146,548,781 (GRCm39) probably benign Het
Myrf T A 19: 10,189,857 (GRCm39) E984V probably damaging Het
Naga A C 15: 82,221,657 (GRCm39) M28R probably damaging Het
Nphp4 T G 4: 152,608,689 (GRCm39) probably null Het
Nr1h4 T C 10: 89,314,284 (GRCm39) N295D probably damaging Het
Or10j27 T C 1: 172,958,484 (GRCm39) Q100R possibly damaging Het
Or13n4 A T 7: 106,422,869 (GRCm39) I288N probably damaging Het
Parp9 C A 16: 35,792,202 (GRCm39) probably null Het
Pax4 T C 6: 28,446,278 (GRCm39) I72V probably benign Het
Pcdh7 A G 5: 57,879,090 (GRCm39) I542V probably benign Het
Pcdhgb7 C T 18: 37,885,939 (GRCm39) R370W probably damaging Het
Pik3r1 G A 13: 101,828,744 (GRCm39) T18I probably benign Het
Ppara A G 15: 85,661,962 (GRCm39) I68V probably benign Het
Ptch2 T A 4: 116,963,146 (GRCm39) I211N probably damaging Het
Senp6 G A 9: 80,038,028 (GRCm39) V715M probably damaging Het
Serf2 C T 2: 121,281,184 (GRCm39) P41L possibly damaging Het
Serpina12 T C 12: 104,004,009 (GRCm39) I208V possibly damaging Het
Serpinf2 T C 11: 75,323,326 (GRCm39) D460G probably benign Het
Sh3d21 T C 4: 126,045,665 (GRCm39) E338G probably damaging Het
Slc7a11 T C 3: 50,333,599 (GRCm39) D384G probably damaging Het
Snx15 A G 19: 6,174,181 (GRCm39) probably null Het
Supt16 A G 14: 52,420,549 (GRCm39) F84L probably damaging Het
Tamalin A G 15: 101,128,418 (GRCm39) D152G probably damaging Het
Thoc2l A G 5: 104,668,121 (GRCm39) Y881C probably damaging Het
Tm9sf2 C A 14: 122,380,913 (GRCm39) Q169K probably benign Het
Trim56 A T 5: 137,142,832 (GRCm39) V228E probably benign Het
Triqk T A 4: 12,980,390 (GRCm39) probably null Het
Ttc21a T A 9: 119,795,631 (GRCm39) I1155N possibly damaging Het
Ube3b T G 5: 114,557,692 (GRCm39) Y1059D probably damaging Het
Vmn2r14 T C 5: 109,363,961 (GRCm39) T652A probably benign Het
Wdr4 A G 17: 31,718,798 (GRCm39) V304A probably benign Het
Wwp2 T C 8: 108,280,694 (GRCm39) S646P possibly damaging Het
Zfand5 T A 19: 21,257,009 (GRCm39) S130T probably benign Het
Zfp599 A T 9: 22,161,396 (GRCm39) Y256* probably null Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 T A 13: 92,642,197 (GRCm39) I1209L possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TCAGGTCTCCACAAGCGATG -3'
(R):5'- ATGTACGTGCTCATTGCTCTGC -3'

Sequencing Primer
(F):5'- TGCTCAACAGTGCGATGTAC -3'
(R):5'- GCTCTTGGCTGTCAACATCTGTG -3'
Posted On 2016-06-15