Incidental Mutation 'R8497:Or5b104'
ID 658351
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 067939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R8497 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 13072057-13073010 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13072707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 102 (T102A)
Ref Sequence ENSEMBL: ENSMUSP00000150957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075170] [ENSMUST00000208913] [ENSMUST00000214561] [ENSMUST00000215229]
AlphaFold Q8VFK3
Predicted Effect probably benign
Transcript: ENSMUST00000075170
AA Change: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074665
Gene: ENSMUSG00000061637
AA Change: T102A

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 benign
Transcript: ENSMUST00000215229
AA Change: T102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,923,250 (GRCm39) H509Y probably benign Het
Afm A T 5: 90,699,202 (GRCm39) probably null Het
Apc G A 18: 34,446,083 (GRCm39) C975Y possibly damaging Het
Ash1l G T 3: 88,914,951 (GRCm39) M1860I probably benign Het
Bdkrb1 C T 12: 105,570,463 (GRCm39) Q10* probably null Het
Bphl A G 13: 34,221,706 (GRCm39) K21E possibly damaging Het
Cadps2 T C 6: 23,355,918 (GRCm39) N837D probably benign Het
Cat C G 2: 103,287,221 (GRCm39) A470P probably damaging Het
Cdc34 G T 10: 79,520,845 (GRCm39) D11Y probably damaging Het
Cep290 A G 10: 100,387,320 (GRCm39) E1936G probably damaging Het
Cnot6 A T 11: 49,566,191 (GRCm39) N501K possibly damaging Het
Cyth3 A C 5: 143,678,328 (GRCm39) D44A probably benign Het
Dchs1 C T 7: 105,408,168 (GRCm39) G1888D probably damaging Het
Ffar1 T G 7: 30,560,334 (GRCm39) I188L probably benign Het
Fhip1b G T 7: 105,030,396 (GRCm39) D820E probably damaging Het
Gpr17 A G 18: 32,080,173 (GRCm39) Y297H probably damaging Het
H2-M10.5 A C 17: 37,084,729 (GRCm39) E151A probably damaging Het
Hmcn1 C T 1: 150,455,990 (GRCm39) R5310K probably benign Het
Hmcn2 T C 2: 31,313,357 (GRCm39) L3522P possibly damaging Het
Hs2st1 T G 3: 144,140,452 (GRCm39) T290P probably damaging Het
Il5ra G A 6: 106,715,066 (GRCm39) L231F probably benign Het
Itgav T A 2: 83,615,805 (GRCm39) C529S probably damaging Het
Itprid1 A T 6: 55,875,179 (GRCm39) R376S probably benign Het
Lrrcc1 A G 3: 14,605,044 (GRCm39) D138G possibly damaging Het
Mat1a C T 14: 40,843,851 (GRCm39) R357W probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtss2 T C 8: 111,465,222 (GRCm39) V492A possibly damaging Het
Nalcn A G 14: 123,752,771 (GRCm39) V330A probably damaging Het
Neu3 A T 7: 99,472,342 (GRCm39) probably null Het
Nfx1 A G 4: 40,976,968 (GRCm39) D214G possibly damaging Het
Or2a14 T C 6: 43,130,818 (GRCm39) L193P probably damaging Het
Or2y17 G A 11: 49,231,721 (GRCm39) D121N probably damaging Het
Or4f14 T A 2: 111,742,964 (GRCm39) I104F possibly damaging Het
Pcdhb14 A T 18: 37,582,349 (GRCm39) H485L probably benign Het
Pdss2 A C 10: 43,289,521 (GRCm39) K342T possibly damaging Het
Ppargc1a A G 5: 51,647,570 (GRCm39) S254P probably damaging Het
Prelid1 A G 13: 55,470,833 (GRCm39) D87G probably damaging Het
Prkg1 C A 19: 31,279,709 (GRCm39) C190F probably damaging Het
Psmb5 A G 14: 54,851,837 (GRCm39) S116P possibly damaging Het
Rassf6 A G 5: 90,779,391 (GRCm39) V14A possibly damaging Het
Ripk1 T C 13: 34,211,934 (GRCm39) S415P probably damaging Het
Rnft1 A T 11: 86,386,132 (GRCm39) K344* probably null Het
Sacs G A 14: 61,429,702 (GRCm39) R587Q probably benign Het
Skp2 A T 15: 9,127,971 (GRCm39) probably null Het
Spata31d1a T C 13: 59,848,988 (GRCm39) K1047E possibly damaging Het
Spopfm2 T A 3: 94,083,119 (GRCm39) I231F possibly damaging Het
Szt2 G A 4: 118,245,518 (GRCm39) T1098I possibly damaging Het
Tcf20 A G 15: 82,740,152 (GRCm39) M433T probably benign Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Utp23 C T 15: 51,745,614 (GRCm39) T144I probably damaging Het
Vmn2r105 T C 17: 20,455,134 (GRCm39) M1V probably null Het
Wdfy4 C T 14: 32,688,356 (GRCm39) V2926M probably damaging Het
Zfp407 T C 18: 84,578,021 (GRCm39) K1031E 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
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'- TGGAGGCATTCAGGAAACCAC -3'
(R):5'- TGACCCAGAATTACAGCTTCCC -3'

Sequencing Primer
(F):5'- GGCATTCAGGAAACCACACACATAAG -3'
(R):5'- GGGAAATCTGGGGCTGATCC -3'
Posted On 2021-01-18