Incidental Mutation 'R2496:Or55b3'
ID 251189
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 040410-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R2496 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102125980-102127109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102126354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 241 (K241R)
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: K241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051348
Gene: ENSMUSG00000044814
AA Change: K241R

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: K241R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,761,065 (GRCm39) W1926R probably damaging Het
Arhgef25 T C 10: 127,023,063 (GRCm39) T106A probably benign Het
Baz1b G A 5: 135,239,629 (GRCm39) R243Q probably damaging Het
Cdhr3 A G 12: 33,099,068 (GRCm39) Y508H probably benign Het
Cyp2d9 T A 15: 82,336,680 (GRCm39) W10R probably damaging Het
Dmxl1 A G 18: 50,013,858 (GRCm39) T1549A possibly damaging Het
Dnah8 A T 17: 31,070,705 (GRCm39) R4464W probably damaging Het
Dpp4 G A 2: 62,217,477 (GRCm39) T40M possibly damaging Het
Dync1h1 A G 12: 110,607,654 (GRCm39) H2723R possibly damaging Het
E2f3 C T 13: 30,095,289 (GRCm39) S333N probably damaging Het
Fam120a G T 13: 49,121,069 (GRCm39) A79E probably damaging Het
Fat3 A G 9: 15,877,399 (GRCm39) S3405P probably benign Het
Gaa T C 11: 119,174,531 (GRCm39) S793P possibly damaging Het
Galc A C 12: 98,193,540 (GRCm39) F350V probably damaging Het
Garre1 A G 7: 33,955,916 (GRCm39) V391A possibly damaging Het
Gm136 A G 4: 34,746,541 (GRCm39) C157R probably damaging Het
Gm3327 A C 14: 44,363,720 (GRCm39) N108T unknown Het
H2-M10.2 A G 17: 36,596,771 (GRCm39) Y102H possibly damaging Het
Hmcn1 A T 1: 150,490,972 (GRCm39) D4192E probably benign Het
Hpse2 A C 19: 43,001,482 (GRCm39) probably null Het
Idh3a T C 9: 54,510,633 (GRCm39) V362A probably benign Het
Kdm7a A T 6: 39,147,697 (GRCm39) probably null Het
Krt6b A G 15: 101,588,216 (GRCm39) V148A probably damaging Het
Lrba G A 3: 86,439,394 (GRCm39) R1977H probably damaging Het
Magi2 A T 5: 19,883,750 (GRCm39) Y134F probably benign Het
Mamdc4 T C 2: 25,455,914 (GRCm39) Y801C probably damaging Het
Maml1 T C 11: 50,149,371 (GRCm39) T790A probably benign Het
Map3k19 A G 1: 127,750,823 (GRCm39) Y843H probably damaging Het
Mdfic A T 6: 15,741,041 (GRCm39) H45L possibly damaging Het
Mlx C T 11: 100,979,080 (GRCm39) T87I probably benign Het
Mms22l T A 4: 24,521,269 (GRCm39) I382K probably benign Het
Mtf1 A G 4: 124,732,697 (GRCm39) N585S probably benign Het
Mylk2 C T 2: 152,755,588 (GRCm39) P251S probably damaging Het
Myorg A G 4: 41,499,165 (GRCm39) V155A probably benign Het
Nox4 A T 7: 86,955,958 (GRCm39) T157S probably benign Het
Oas2 A T 5: 120,886,682 (GRCm39) H161Q probably benign Het
Obscn A T 11: 58,994,268 (GRCm39) V1563E probably damaging Het
Or2n1b T C 17: 38,460,322 (GRCm39) V281A possibly damaging Het
Or6c203 A C 10: 129,009,966 (GRCm39) F308C probably benign Het
Pcdhb11 T A 18: 37,555,375 (GRCm39) I235N probably benign Het
Pcsk5 A T 19: 17,443,522 (GRCm39) C1212* probably null Het
Ptges C T 2: 30,782,722 (GRCm39) G110D possibly damaging Het
Rsph4a A T 10: 33,784,094 (GRCm39) I239L possibly damaging Het
Setx A G 2: 29,034,813 (GRCm39) I433V probably benign Het
Smyd4 T C 11: 75,281,927 (GRCm39) S467P probably benign Het
Snai2 A T 16: 14,523,866 (GRCm39) H10L possibly damaging Het
Snw1 T C 12: 87,497,589 (GRCm39) I467V probably benign Het
Stab1 A T 14: 30,883,420 (GRCm39) C301S probably damaging Het
Tax1bp1 T A 6: 52,735,342 (GRCm39) probably null Het
Tmem70 C A 1: 16,735,575 (GRCm39) P15Q probably benign Het
Tmem87a T C 2: 120,224,859 (GRCm39) E134G probably damaging Het
Ubr4 C T 4: 139,200,516 (GRCm39) probably benign Het
Ugt2b37 C T 5: 87,402,569 (GRCm39) V21M probably damaging Het
Ugt2b38 T A 5: 87,569,551 (GRCm39) I259F probably damaging Het
Zfp804a T A 2: 82,066,188 (GRCm39) L53Q 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
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
Predicted Primers PCR Primer
(F):5'- ATGTGTTGCCGGATCTCCTTAG -3'
(R):5'- TGCAAGACATCCGTCATAAGAC -3'

Sequencing Primer
(F):5'- CCTTAGTTCTCACCCCATAAATGAG -3'
(R):5'- GTCATAAGACACTTCACCTGCGAG -3'
Posted On 2014-12-04