Incidental Mutation 'R4092:Or5b104'
ID 317698
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4092 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 13072057-13073010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13072790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 74 (Y74C)
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: Y74C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: Y74C

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 benign
Transcript: ENSMUST00000214561
Predicted Effect probably damaging
Transcript: ENSMUST00000215229
AA Change: Y74C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Meta Mutation Damage Score 0.2479 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,055,903 (GRCm39) H340Q probably benign Het
Adam22 A T 5: 8,145,004 (GRCm39) I116N probably damaging Het
Adamts2 T A 11: 50,678,103 (GRCm39) V794E probably damaging Het
Ak9 T C 10: 41,265,140 (GRCm39) S966P probably benign Het
Alox5 G A 6: 116,389,635 (GRCm39) probably benign Het
Bmerb1 G A 16: 13,867,346 (GRCm39) R68H probably damaging Het
Brip1 C T 11: 86,039,347 (GRCm39) D396N possibly damaging Het
Catsper3 C T 13: 55,932,484 (GRCm39) H4Y probably benign Het
Cmtm2a T C 8: 105,019,403 (GRCm39) Y62C probably benign Het
Crim1 T C 17: 78,658,265 (GRCm39) C715R probably damaging Het
Dio3 A G 12: 110,246,234 (GRCm39) D190G possibly damaging Het
Efl1 A G 7: 82,412,035 (GRCm39) E808G probably benign Het
Eif1ad16 A T 12: 87,985,194 (GRCm39) N116K possibly damaging Het
Fam83b T C 9: 76,398,943 (GRCm39) D720G probably benign Het
Fbp2 C T 13: 62,988,174 (GRCm39) V246M possibly damaging Het
Gm10197 G A 19: 53,360,196 (GRCm39) probably benign Het
Icam2 C A 11: 106,271,623 (GRCm39) M1I probably null Het
Insyn2b G A 11: 34,351,935 (GRCm39) probably benign Het
Kit T C 5: 75,771,470 (GRCm39) I209T probably benign Het
Lcmt1 T C 7: 123,017,476 (GRCm39) V200A probably damaging Het
Lrrn2 C T 1: 132,865,390 (GRCm39) Q152* probably null Het
Mmadhc A G 2: 50,177,895 (GRCm39) M174T probably benign Het
N4bp2 A G 5: 65,947,799 (GRCm39) N143S probably benign Het
Ndufs1 G A 1: 63,196,405 (GRCm39) A340V possibly damaging Het
Nid1 A G 13: 13,661,224 (GRCm39) D708G probably damaging Het
Noc2l A C 4: 156,327,033 (GRCm39) T295P probably damaging Het
Nutm1 T A 2: 112,079,809 (GRCm39) N702I probably damaging Het
Obscn T A 11: 58,946,886 (GRCm39) M4083L probably benign Het
Otol1 T A 3: 69,935,118 (GRCm39) I370N probably damaging Het
Paip1 T G 13: 119,586,449 (GRCm39) S58A probably benign Het
Pfas T C 11: 68,884,775 (GRCm39) T476A probably benign Het
Plppr3 G T 10: 79,703,314 (GRCm39) R57S probably damaging Het
Ptgir T C 7: 16,640,932 (GRCm39) S75P probably damaging Het
Raver1 A T 9: 20,992,568 (GRCm39) L287Q probably damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Scn11a T A 9: 119,619,036 (GRCm39) M769L probably benign Het
Serpina16 G T 12: 103,638,836 (GRCm39) H250Q probably benign Het
Serpina3a G A 12: 104,082,625 (GRCm39) V133I probably benign Het
Slc12a8 G A 16: 33,437,491 (GRCm39) G308D probably damaging Het
Slfn5 T C 11: 82,851,893 (GRCm39) L673P probably damaging Het
Sorcs2 T C 5: 36,183,166 (GRCm39) K1036E possibly damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sptbn5 C A 2: 119,897,532 (GRCm39) E550D probably damaging Het
Srgap3 G T 6: 112,700,045 (GRCm39) P1002T probably benign Het
Tollip C T 7: 141,438,180 (GRCm39) R181H probably damaging Het
Trmt1l T A 1: 151,330,784 (GRCm39) S600R probably benign Het
Vps16 T A 2: 130,281,832 (GRCm39) Y315N probably damaging Het
Vps50 A G 6: 3,551,037 (GRCm39) E367G probably benign 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
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'- GGAGGCATTCAGGAAACCAC -3'
(R):5'- TCTGCTGGGACTCACCAATG -3'

Sequencing Primer
(F):5'- GGCATAGTGCAATGGCTTACACAC -3'
(R):5'- TGGGACTCACCAATGACCCAG -3'
Posted On 2015-05-15