Incidental Mutation 'R9534:Or5b104'
ID 719630
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R9534 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 13072057-13073010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13072121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 124 (E124G)
Ref Sequence ENSEMBL: ENSMUSP00000149056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075170] [ENSMUST00000208913] [ENSMUST00000214561] [ENSMUST00000215229]
AlphaFold Q8VFK3
Predicted Effect probably damaging
Transcript: ENSMUST00000075170
AA Change: E297G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: E297G

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: E124G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215229
AA Change: E297G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 C A 19: 4,913,477 (GRCm39) Q651H probably benign Het
Ahnak G T 19: 8,980,976 (GRCm39) M753I probably benign Het
Ap1ar T C 3: 127,602,364 (GRCm39) T225A probably damaging Het
Asic1 T G 15: 99,594,397 (GRCm39) I281S probably benign Het
Bard1 C T 1: 71,114,189 (GRCm39) C264Y probably benign Het
Bltp1 A G 3: 37,052,419 (GRCm39) T3040A probably benign Het
Bnip3l G A 14: 67,246,214 (GRCm39) P7L possibly damaging Het
Cacna1e T C 1: 154,320,693 (GRCm39) H1354R possibly damaging Het
Cc2d2b G T 19: 40,799,068 (GRCm39) E860* probably null Het
Cenpn T A 8: 117,661,474 (GRCm39) L191* probably null Het
Cep68 T C 11: 20,190,686 (GRCm39) R109G probably benign Het
Col9a1 T A 1: 24,224,250 (GRCm39) V144E unknown Het
Coro2a T C 4: 46,548,884 (GRCm39) T137A probably benign Het
Ecpas A G 4: 58,807,867 (GRCm39) V1667A probably benign Het
Eml6 T C 11: 29,734,155 (GRCm39) D1195G possibly damaging Het
Hspg2 G A 4: 137,268,072 (GRCm39) V2130I probably benign Het
Ifi214 A T 1: 173,354,092 (GRCm39) S193T probably benign Het
Iqsec3 C A 6: 121,367,077 (GRCm39) V724L possibly damaging Het
Lamb2 G T 9: 108,365,830 (GRCm39) G1445W probably damaging Het
Mis18bp1 A T 12: 65,205,234 (GRCm39) S313T possibly damaging Het
Or1f19 A T 16: 3,410,937 (GRCm39) I226F probably benign Het
Or4a68 A C 2: 89,269,999 (GRCm39) V208G probably benign Het
Pcdh9 C T 14: 94,123,656 (GRCm39) C838Y probably damaging Het
Pdcd11 A G 19: 47,108,718 (GRCm39) M1245V probably benign Het
Ppp3r1 A G 11: 17,132,123 (GRCm39) Y7C probably benign Het
Rdx C T 9: 51,984,482 (GRCm39) R330* probably null Het
Scaf11 T G 15: 96,318,209 (GRCm39) N452H possibly damaging Het
Scube1 A G 15: 83,606,102 (GRCm39) Y57H probably damaging Het
Slc35d3 T C 10: 19,725,116 (GRCm39) T247A probably damaging Het
Slfn5 A T 11: 82,849,523 (GRCm39) M341L probably benign Het
Smc2 T A 4: 52,462,870 (GRCm39) M620K probably damaging Het
Smg5 T A 3: 88,252,759 (GRCm39) S182T probably benign Het
Tdrd6 G T 17: 43,936,510 (GRCm39) L1513I probably benign Het
Tet2 A T 3: 133,173,689 (GRCm39) Y1524* probably null Het
Tex15 A G 8: 34,060,999 (GRCm39) N143S probably benign Het
Urb1 A G 16: 90,583,096 (GRCm39) I591T possibly damaging Het
Usp21 A G 1: 171,110,942 (GRCm39) S435P probably benign Het
Usp24 T C 4: 106,264,312 (GRCm39) Y1748H probably damaging Het
Vmn2r54 C A 7: 12,366,093 (GRCm39) K280N probably benign Het
Zan G T 5: 137,407,945 (GRCm39) C3616* probably null Het
Zfp804b T C 5: 6,819,115 (GRCm39) D1316G probably 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
R0490:Or5b104 UTSW 19 13,072,176 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACCTCATAAGCTGCGGAATAC -3'
(R):5'- CTCAAGTGCTGGATATGGGAAG -3'

Sequencing Primer
(F):5'- CTCATAAGCTGCGGAATACAATAG -3'
(R):5'- ATATGGGAAGGCTGCACCC -3'
Posted On 2022-07-18