Incidental Mutation 'R5859:Or55b3'
ID 455065
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 044071-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5859 (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 102126957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 40 (Y40C)
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: Y40C

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: Y40C

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: Y40C

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.9%
Validation Efficiency 93% (70/75)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 A T 8: 25,303,477 (GRCm39) V150E probably benign Het
Alg11 A G 8: 22,555,857 (GRCm39) K373E probably benign Het
Arl14ep C T 2: 106,799,398 (GRCm39) probably benign Het
Ascc2 G A 11: 4,608,284 (GRCm39) G227R probably benign Het
Ash1l C T 3: 88,976,300 (GRCm39) P2627S probably damaging Het
Btla T G 16: 45,059,402 (GRCm39) probably null Het
Btnl10 C T 11: 58,813,138 (GRCm39) P256S probably benign Het
Cep162 C T 9: 87,086,145 (GRCm39) A1060T probably damaging Het
Cfap54 T A 10: 92,852,386 (GRCm39) K907* probably null Het
Chpf A T 1: 75,452,072 (GRCm39) F461I probably damaging Het
Chrdl2 A G 7: 99,670,114 (GRCm39) Y79C probably damaging Het
Copb2 G A 9: 98,450,161 (GRCm39) C40Y probably benign Het
Cyfip1 T C 7: 55,574,929 (GRCm39) L1060P probably damaging Het
Drg1 G A 11: 3,209,273 (GRCm39) probably benign Het
Erich3 A G 3: 154,468,134 (GRCm39) D862G possibly damaging Het
Flii G T 11: 60,607,137 (GRCm39) Y946* probably null Het
Glt8d2 T C 10: 82,507,915 (GRCm39) M1V probably null Het
Gm21136 T A 7: 38,567,165 (GRCm39) noncoding transcript Het
Gramd1c T C 16: 43,812,454 (GRCm39) T393A possibly damaging Het
Gucy2d T A 7: 98,101,090 (GRCm39) I471N probably benign Het
Hps3 G A 3: 20,063,034 (GRCm39) T711M probably benign Het
Hs3st4 A T 7: 123,582,831 (GRCm39) D143V probably benign Het
Kif17 T A 4: 138,018,744 (GRCm39) M461K possibly damaging Het
Klhdc7a T A 4: 139,694,885 (GRCm39) S21C probably damaging Het
Klk15 G A 7: 43,587,800 (GRCm39) R76H probably benign Het
Lnpk G A 2: 74,399,372 (GRCm39) T57I possibly damaging Het
Ltbp2 A G 12: 84,840,837 (GRCm39) V999A possibly damaging Het
Ltbr T C 6: 125,289,771 (GRCm39) H141R probably damaging Het
Lvrn T C 18: 47,026,816 (GRCm39) F805L probably damaging Het
Ms4a13 A T 19: 11,161,280 (GRCm39) C86* probably null Het
Ncbp1 A G 4: 46,163,026 (GRCm39) N480S probably benign Het
Nelfcd T G 2: 174,268,856 (GRCm39) *592G probably null Het
Neurog2 T C 3: 127,427,664 (GRCm39) V96A probably benign Het
Nod1 A T 6: 54,907,162 (GRCm39) W902R probably benign Het
Or12d13 T C 17: 37,647,260 (GRCm39) I288V possibly damaging Het
Or4k15c T A 14: 50,321,484 (GRCm39) Y218F probably damaging Het
Or6d13 T C 6: 116,517,861 (GRCm39) L149P probably damaging Het
Pcdha11 A T 18: 37,140,336 (GRCm39) H655L probably damaging Het
Plpp7 A G 2: 31,985,996 (GRCm39) E58G probably benign Het
Psph A T 5: 129,867,685 (GRCm39) probably benign Het
Rab11fip1 A C 8: 27,644,748 (GRCm39) S346A probably damaging Het
Rreb1 C A 13: 38,131,384 (GRCm39) P1513T probably benign Het
Rreb1 C T 13: 38,131,385 (GRCm39) P1513L probably benign Het
Rsf1 C T 7: 97,334,766 (GRCm39) R1300C probably damaging Het
Scap A G 9: 110,203,115 (GRCm39) N263S probably benign Het
Sec24d A T 3: 123,072,961 (GRCm39) probably benign Het
Slain2 T C 5: 73,105,888 (GRCm39) probably benign Het
Slc6a18 G T 13: 73,816,278 (GRCm39) T367N probably benign Het
Slk T A 19: 47,597,481 (GRCm39) D96E probably benign Het
Spag5 G A 11: 78,204,360 (GRCm39) V514I probably benign Het
St8sia2 T C 7: 73,616,654 (GRCm39) D107G probably damaging Het
Tgfbr3 T A 5: 107,288,381 (GRCm39) I427F probably benign Het
Tlr2 T G 3: 83,743,810 (GRCm39) T758P possibly damaging Het
Tmem270 A G 5: 134,931,738 (GRCm39) V68A probably benign Het
Vmn2r106 T A 17: 20,505,583 (GRCm39) H37L possibly damaging Het
Vmn2r27 T G 6: 124,177,647 (GRCm39) R452S probably damaging Het
Wdr5 A G 2: 27,423,362 (GRCm39) Y252C probably damaging Het
Zswim9 C T 7: 12,995,371 (GRCm39) V262M probably 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
R5117:Or55b3 UTSW 7 102,126,709 (GRCm39) missense probably damaging 1.00
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'- ACATTTGTGTGAGGCAGCCG -3'
(R):5'- TTCCCATCATGTGAGCCTCAG -3'

Sequencing Primer
(F):5'- CAGCCGCGGAGTGAGATG -3'
(R):5'- AATAACCATTTTGTTCTAACAGCCCC -3'
Posted On 2017-02-10