Incidental Mutation 'R1019:Or1l8'
ID 96702
Institutional Source Beutler Lab
Gene Symbol Or1l8
Ensembl Gene ENSMUSG00000075380
Gene Name olfactory receptor family 1 subfamily L member 8
Synonyms Olfr355, MOR138-2, GA_x6K02T2NLDC-33622642-33621710
MMRRC Submission 039123-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R1019 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 36817192-36818124 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36817764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 121 (F121L)
Ref Sequence ENSEMBL: ENSMUSP00000151206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100147] [ENSMUST00000213574]
AlphaFold Q8VFP6
Predicted Effect probably benign
Transcript: ENSMUST00000100147
AA Change: F121L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097725
Gene: ENSMUSG00000075380
AA Change: F121L

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2.9e-55 PFAM
Pfam:7tm_1 42 290 2.2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213574
AA Change: F121L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G C 8: 120,872,209 (GRCm39) E46Q probably damaging Het
9130401M01Rik A G 15: 57,885,823 (GRCm39) I353T possibly damaging Het
A830031A19Rik G A 11: 23,999,438 (GRCm39) R53C unknown Het
Abcc6 T C 7: 45,663,531 (GRCm39) R378G possibly damaging Het
Adam10 A G 9: 70,668,922 (GRCm39) N413D probably benign Het
Csmd2 T C 4: 128,415,807 (GRCm39) V2712A probably benign Het
Dnhd1 T C 7: 105,358,378 (GRCm39) F3289S probably damaging Het
Hectd1 A G 12: 51,795,440 (GRCm39) S2330P probably damaging Het
Ift74 C T 4: 94,524,072 (GRCm39) A196V probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Lipo2 A T 19: 33,708,257 (GRCm39) C252* probably null Het
Mrgpra1 C G 7: 46,984,833 (GRCm39) C282S probably benign Het
Nfatc2 A T 2: 168,346,799 (GRCm39) L765Q probably damaging Het
Or13a26 C T 7: 140,284,407 (GRCm39) P81L probably damaging Het
Otof C A 5: 30,528,087 (GRCm39) V1924L probably damaging Het
Pdhb T C 14: 8,171,442 (GRCm38) Q62R probably benign Het
Plbd1 A G 6: 136,628,903 (GRCm39) V55A probably benign Het
Poteg T A 8: 27,937,852 (GRCm39) F3I possibly damaging Het
Rptor A G 11: 119,734,569 (GRCm39) D46G probably damaging Het
Slc18a1 C T 8: 69,527,685 (GRCm39) probably null Het
Slc37a1 A G 17: 31,534,568 (GRCm39) N80S probably benign Het
Slc6a18 T A 13: 73,825,998 (GRCm39) R17S probably damaging Het
Spata31d1a A G 13: 59,850,182 (GRCm39) S649P probably benign Het
Syngr3 G T 17: 24,906,534 (GRCm39) Q94K possibly damaging Het
Tgm2 C A 2: 157,966,074 (GRCm39) E527* probably null Het
Tnc T A 4: 63,880,319 (GRCm39) T1952S probably damaging Het
Ubqln3 C T 7: 103,790,593 (GRCm39) R499Q probably benign Het
Uck1 A G 2: 32,146,205 (GRCm39) V230A possibly damaging Het
Unc13d G A 11: 115,958,900 (GRCm39) R754C probably benign Het
Zfp708 C T 13: 67,222,162 (GRCm39) A73T probably benign Het
Other mutations in Or1l8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Or1l8 APN 2 36,817,824 (GRCm39) nonsense probably null
IGL02523:Or1l8 APN 2 36,817,967 (GRCm39) missense probably damaging 0.99
BB002:Or1l8 UTSW 2 36,817,371 (GRCm39) missense possibly damaging 0.80
BB012:Or1l8 UTSW 2 36,817,371 (GRCm39) missense possibly damaging 0.80
IGL03050:Or1l8 UTSW 2 36,817,820 (GRCm39) missense probably damaging 0.99
R0458:Or1l8 UTSW 2 36,817,349 (GRCm39) missense probably damaging 1.00
R1115:Or1l8 UTSW 2 36,817,514 (GRCm39) missense possibly damaging 0.72
R1460:Or1l8 UTSW 2 36,817,820 (GRCm39) missense probably damaging 0.99
R1663:Or1l8 UTSW 2 36,817,346 (GRCm39) missense probably damaging 1.00
R1902:Or1l8 UTSW 2 36,817,197 (GRCm39) missense probably benign 0.00
R2964:Or1l8 UTSW 2 36,817,419 (GRCm39) missense probably benign 0.00
R4751:Or1l8 UTSW 2 36,817,595 (GRCm39) missense probably damaging 1.00
R4884:Or1l8 UTSW 2 36,818,024 (GRCm39) missense possibly damaging 0.65
R4935:Or1l8 UTSW 2 36,817,713 (GRCm39) missense probably benign 0.05
R6114:Or1l8 UTSW 2 36,817,701 (GRCm39) missense possibly damaging 0.93
R6184:Or1l8 UTSW 2 36,817,404 (GRCm39) missense probably damaging 1.00
R6476:Or1l8 UTSW 2 36,817,595 (GRCm39) missense possibly damaging 0.75
R7167:Or1l8 UTSW 2 36,817,533 (GRCm39) missense probably benign 0.00
R7323:Or1l8 UTSW 2 36,817,986 (GRCm39) missense probably damaging 1.00
R7539:Or1l8 UTSW 2 36,817,221 (GRCm39) missense probably benign 0.02
R7925:Or1l8 UTSW 2 36,817,371 (GRCm39) missense possibly damaging 0.80
R8284:Or1l8 UTSW 2 36,818,018 (GRCm39) missense probably damaging 0.99
R9786:Or1l8 UTSW 2 36,817,416 (GRCm39) nonsense probably null
X0025:Or1l8 UTSW 2 36,817,962 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- TTCCCAGCAGCAGAAGGGATCTTG -3'
(R):5'- AGGGAACCTGCTCATCATTCTGGC -3'

Sequencing Primer
(F):5'- TTTTAACAGAGGACTGAGGTCAC -3'
(R):5'- GGCCATCCGTTCTGACC -3'
Posted On 2014-01-05