Incidental Mutation 'R0490:Or5b104'
ID 43467
Institutional Source Beutler Lab
Gene Symbol Or5b104
Ensembl Gene ENSMUSG00000061637
Gene Name olfactory receptor family 5 subfamily B member 104
Synonyms MOR202-20, Olfr1457, GA_x6K02T2RE5P-3423041-3422097
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R0490 (G1)
Quality Score 214
Status Validated
Chromosome 19
Chromosomal Location 13072057-13073010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13072176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 279 (Y279H)
Ref Sequence ENSEMBL: ENSMUSP00000150957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075170] [ENSMUST00000208913] [ENSMUST00000214561] [ENSMUST00000215229]
AlphaFold Q8VFK3
Predicted Effect probably damaging
Transcript: ENSMUST00000075170
AA Change: Y279H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: Y279H

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 3.6e-45 PFAM
Pfam:7tm_1 42 291 9.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208913
Predicted Effect probably damaging
Transcript: ENSMUST00000214561
AA Change: Y106H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215229
AA Change: Y279H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1398 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Ccdc81 A T 7: 89,536,970 (GRCm39) V226D probably benign Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Epha5 G T 5: 84,255,833 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gsr T A 8: 34,161,540 (GRCm39) probably benign Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Lpl A G 8: 69,349,343 (GRCm39) R290G probably damaging Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pcdhb8 T C 18: 37,489,833 (GRCm39) S504P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N possibly damaging Het
Other mutations in Or5b104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Or5b104 APN 19 13,072,476 (GRCm39) missense probably damaging 1.00
IGL01815:Or5b104 APN 19 13,073,020 (GRCm39) splice site probably null
IGL02033:Or5b104 APN 19 13,072,221 (GRCm39) missense possibly damaging 0.54
R1205:Or5b104 UTSW 19 13,072,899 (GRCm39) missense probably benign 0.01
R1299:Or5b104 UTSW 19 13,072,494 (GRCm39) missense possibly damaging 0.78
R1782:Or5b104 UTSW 19 13,072,167 (GRCm39) missense probably damaging 0.99
R1983:Or5b104 UTSW 19 13,072,748 (GRCm39) missense probably benign 0.01
R2364:Or5b104 UTSW 19 13,072,118 (GRCm39) missense probably damaging 1.00
R3815:Or5b104 UTSW 19 13,072,277 (GRCm39) missense probably damaging 0.98
R4092:Or5b104 UTSW 19 13,072,790 (GRCm39) missense probably damaging 0.97
R4430:Or5b104 UTSW 19 13,072,452 (GRCm39) missense probably benign 0.03
R7200:Or5b104 UTSW 19 13,072,596 (GRCm39) missense probably benign 0.04
R8079:Or5b104 UTSW 19 13,072,648 (GRCm39) nonsense probably null
R8497:Or5b104 UTSW 19 13,072,707 (GRCm39) missense probably benign
R8949:Or5b104 UTSW 19 13,072,490 (GRCm39) start codon destroyed probably null 0.00
R9336:Or5b104 UTSW 19 13,072,513 (GRCm39) missense probably benign 0.04
R9534:Or5b104 UTSW 19 13,072,121 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCACTGGGGTATTGTCATGAAGGC -3'
(R):5'- CACTCAAGTGCTGGATATGGGAAGG -3'

Sequencing Primer
(F):5'- GCCaaaacaaagaaacaaaacaaaac -3'
(R):5'- AAGGCTGCACCCACTTG -3'
Posted On 2013-05-23