Incidental Mutation 'R6588:Or1o1'
ID 527431
Institutional Source Beutler Lab
Gene Symbol Or1o1
Ensembl Gene ENSMUSG00000063188
Gene Name olfactory receptor family 1 subfamily O member 1
Synonyms MOR156-3, GA_x6K02T2PSCP-1867165-1868094, Olfr107
MMRRC Submission 044712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R6588 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 37716368-37717400 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37716796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 119 (R119H)
Ref Sequence ENSEMBL: ENSMUSP00000148879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077008] [ENSMUST00000215894] [ENSMUST00000215947] [ENSMUST00000215974] [ENSMUST00000216844]
AlphaFold Q7TRK4
Predicted Effect probably benign
Transcript: ENSMUST00000077008
AA Change: R119H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000076267
Gene: ENSMUSG00000063188
AA Change: R119H

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 32 302 1.3e-5 PFAM
Pfam:7tm_1 38 287 3.7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174238
Predicted Effect probably benign
Transcript: ENSMUST00000215894
AA Change: R119H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215947
AA Change: R119H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215974
AA Change: R119H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000216844
AA Change: R119H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Homo
Clcn3 T C 8: 61,367,861 (GRCm39) I763V probably benign Het
Cpsf1 A G 15: 76,481,022 (GRCm39) Y1254H probably damaging Het
Erc1 C T 6: 119,552,687 (GRCm39) A1088T possibly damaging Het
Fhl4 A G 10: 84,933,971 (GRCm39) V270A possibly damaging Het
Ghr T C 15: 3,349,750 (GRCm39) E476G probably benign Het
Ighv1-84 T A 12: 115,944,371 (GRCm39) Q101L probably benign Het
Itfg1 T C 8: 86,462,759 (GRCm39) I455V probably benign Het
Kitl T A 10: 99,899,954 (GRCm39) N86K probably damaging Het
Kmt2c C T 5: 25,528,787 (GRCm39) G1614E probably damaging Het
Lrrd1 A G 5: 3,901,386 (GRCm39) S564G probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Macroh2a1 C T 13: 56,252,302 (GRCm39) G97D possibly damaging Het
Mms19 C T 19: 41,954,715 (GRCm39) R68Q probably damaging Het
Or10aa1 G T 1: 173,869,844 (GRCm39) M109I probably benign Het
Or7e173 G T 9: 19,939,162 (GRCm39) P24Q probably damaging Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Zfp64 A T 2: 168,768,827 (GRCm39) C262S probably damaging Het
Other mutations in Or1o1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Or1o1 APN 17 37,717,031 (GRCm39) missense probably benign 0.00
IGL01614:Or1o1 APN 17 37,716,529 (GRCm39) missense probably benign 0.00
IGL02390:Or1o1 APN 17 37,716,986 (GRCm39) missense probably benign 0.04
R1051:Or1o1 UTSW 17 37,717,341 (GRCm39) missense possibly damaging 0.74
R4767:Or1o1 UTSW 17 37,717,091 (GRCm39) nonsense probably null
R4849:Or1o1 UTSW 17 37,716,589 (GRCm39) missense probably benign 0.16
R6182:Or1o1 UTSW 17 37,716,883 (GRCm39) missense possibly damaging 0.65
R6550:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6551:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6552:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6555:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6584:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6586:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6688:Or1o1 UTSW 17 37,716,796 (GRCm39) missense probably benign 0.30
R6758:Or1o1 UTSW 17 37,716,586 (GRCm39) missense probably damaging 0.97
R7024:Or1o1 UTSW 17 37,717,095 (GRCm39) missense probably benign 0.04
R7083:Or1o1 UTSW 17 37,717,063 (GRCm39) missense probably benign 0.00
R8350:Or1o1 UTSW 17 37,717,260 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTCAGTCAGCTCTCACTAGTG -3'
(R):5'- CACTGAGGTGAGTGTCTGAG -3'

Sequencing Primer
(F):5'- AGTCAGCTCTCACTAGTGGATCTTTG -3'
(R):5'- CAGTAAGAGAGGCCTAGAATCAC -3'
Posted On 2018-07-23