Incidental Mutation 'R6344:Or55b3'
ID 514051
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 044498-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R6344 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102125980-102127109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102126738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
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: L113P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: L113P

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: L113P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,327,706 (GRCm39) P707L probably damaging Het
Bbip1 A G 19: 53,919,912 (GRCm39) V23A probably benign Het
Bdnf A T 2: 109,554,022 (GRCm39) Y132F probably benign Het
C4bp T C 1: 130,583,752 (GRCm39) D72G probably benign Het
Cdcp1 T A 9: 123,011,447 (GRCm39) K343N possibly damaging Het
Cep112 A T 11: 108,410,000 (GRCm39) Y472F probably damaging Het
Cops2 A T 2: 125,700,899 (GRCm39) probably benign Het
Cyp27a1 T C 1: 74,776,008 (GRCm39) probably null Het
Dnah7a T C 1: 53,436,349 (GRCm39) I3998V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Fkbpl A G 17: 34,864,544 (GRCm39) K104R probably damaging Het
Helq G T 5: 100,914,594 (GRCm39) A966E probably benign Het
Iba57 G A 11: 59,049,119 (GRCm39) P350L probably damaging Het
Iqgap3 T C 3: 87,989,401 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,713 (GRCm39) V137A probably benign Het
Kif19a G A 11: 114,672,777 (GRCm39) probably null Het
Kmt2a A T 9: 44,733,156 (GRCm39) probably benign Het
Lilra5 T A 7: 4,241,785 (GRCm39) F195I probably damaging Het
Mcm9 A G 10: 53,414,033 (GRCm39) I349T probably benign Het
Mlst8 A G 17: 24,696,300 (GRCm39) L143P probably damaging Het
Mrc1 T C 2: 14,248,985 (GRCm39) F174L probably damaging Het
Muc5b T A 7: 141,416,708 (GRCm39) L3218Q possibly damaging Het
Myo1h A G 5: 114,466,776 (GRCm39) S275G probably damaging Het
Myo5a T A 9: 75,067,791 (GRCm39) V615D probably benign Het
Myo9b T C 8: 71,780,558 (GRCm39) L485P probably damaging Het
Nav1 A G 1: 135,378,534 (GRCm39) Y1646H probably damaging Het
Nsf A T 11: 103,752,730 (GRCm39) V539D probably damaging Het
Nutm1 A T 2: 112,079,247 (GRCm39) N889K possibly damaging Het
Or2n1b C T 17: 38,459,611 (GRCm39) A44V probably benign Het
Pcdhga2 T A 18: 37,803,815 (GRCm39) V553E probably benign Het
Pkmyt1 T C 17: 23,951,730 (GRCm39) S95P possibly damaging Het
Ranbp2 T A 10: 58,319,708 (GRCm39) probably null Het
Saxo2 T A 7: 82,284,073 (GRCm39) I262F probably damaging Het
Sco1 C T 11: 66,946,571 (GRCm39) R115W probably damaging Het
Slc27a3 G T 3: 90,294,961 (GRCm39) Y330* probably null Het
Slc6a4 C T 11: 76,909,080 (GRCm39) T364I probably damaging Het
Slit2 A G 5: 48,377,023 (GRCm39) I388V probably benign Het
Smc6 C A 12: 11,347,107 (GRCm39) probably benign Het
Snx25 C T 8: 46,488,675 (GRCm39) W747* probably null Het
Stard9 T A 2: 120,534,801 (GRCm39) M3686K probably benign Het
Syne1 T C 10: 4,972,212 (GRCm39) D8732G probably benign Het
Tcaf3 A G 6: 42,574,105 (GRCm39) S36P possibly damaging Het
Trpv6 T C 6: 41,602,356 (GRCm39) probably null Het
Tspear T C 10: 77,710,847 (GRCm39) F490L possibly damaging Het
Ttn A G 2: 76,552,196 (GRCm39) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,317 (GRCm39) E155D probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Washc2 G T 6: 116,235,719 (GRCm39) Q977H probably benign Het
Yars2 T A 16: 16,120,899 (GRCm39) W18R 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
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
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'- GCAGGTGAAGTGTCTTATGACG -3'
(R):5'- ATTCATACAGTGGTGGCCCAG -3'

Sequencing Primer
(F):5'- ACGGATGTCTTGCAGAATTGAGC -3'
(R):5'- AGAGGAGTCTGCACCAGC -3'
Posted On 2018-04-27