Incidental Mutation 'R4229:Or1e1'
ID 320135
Institutional Source Beutler Lab
Gene Symbol Or1e1
Ensembl Gene ENSMUSG00000062128
Gene Name olfactory receptor family 1 subfamily E member 1
Synonyms MTPCR06, MOR135-11, Olfr20, Olfr21, MTPCR55, GA_x6K02T2P1NL-3514066-3515010
MMRRC Submission 041048-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R4229 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 73241685-73245525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73245058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 160 (T160S)
Ref Sequence ENSEMBL: ENSMUSP00000114110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108465] [ENSMUST00000117445] [ENSMUST00000120137]
AlphaFold Q7TRX9
Predicted Effect probably damaging
Transcript: ENSMUST00000108465
AA Change: T160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104105
Gene: ENSMUSG00000062128
AA Change: T160S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.9e-60 PFAM
Pfam:7TM_GPCR_Srsx 35 305 7.8e-8 PFAM
Pfam:7tm_1 41 290 1e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117445
Predicted Effect probably damaging
Transcript: ENSMUST00000120137
AA Change: T160S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114110
Gene: ENSMUSG00000062128
AA Change: T160S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.3e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.5e-6 PFAM
Pfam:7tm_1 41 290 2.2e-26 PFAM
Meta Mutation Damage Score 0.4386 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 98% (42/43)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Aadac A G 3: 59,939,234 (GRCm39) K3E possibly damaging Het
Cdc14a A G 3: 116,087,413 (GRCm39) S533P probably damaging Het
Dsc3 G A 18: 20,098,878 (GRCm39) T767I probably damaging Het
Dse A T 10: 34,038,740 (GRCm39) M221K probably damaging Het
Etfb C A 7: 43,105,984 (GRCm39) R174S probably damaging Het
Gm10735 T C 13: 113,177,743 (GRCm39) probably benign Het
Gm27013 A T 6: 130,654,308 (GRCm39) S385T possibly damaging Het
Gsap A G 5: 21,451,975 (GRCm39) D339G probably benign Het
H2-T24 G A 17: 36,325,721 (GRCm39) A290V probably benign Het
Ifi44l A T 3: 151,468,514 (GRCm39) C5* probably null Het
Lipk A G 19: 33,997,687 (GRCm39) Y56C probably damaging Het
Mrpl21 A G 19: 3,336,901 (GRCm39) I91V probably damaging Het
Nin T C 12: 70,097,984 (GRCm39) E492G probably damaging Het
Nxpe4 A G 9: 48,304,122 (GRCm39) R70G possibly damaging Het
Or4k36 A G 2: 111,146,681 (GRCm39) I286V probably damaging Het
Or4p18 T A 2: 88,233,227 (GRCm39) Q17L possibly damaging Het
Or52e18 A T 7: 104,609,801 (GRCm39) I46N probably benign Het
Plaur T C 7: 24,166,208 (GRCm39) V93A probably damaging Het
Ptprv C A 1: 135,053,945 (GRCm39) noncoding transcript Het
Rabep1 A G 11: 70,799,260 (GRCm39) T295A probably benign Het
Sec24b G T 3: 129,834,368 (GRCm39) Q141K probably benign Het
Set A G 2: 29,959,531 (GRCm39) Y139C probably damaging Het
Sspo T C 6: 48,467,868 (GRCm39) S4272P probably benign Het
Tmc3 T C 7: 83,246,610 (GRCm39) probably benign Het
Tmem229a T A 6: 24,954,831 (GRCm39) I308F probably damaging Het
Vmn1r223 A T 13: 23,433,585 (GRCm39) M60L probably benign Het
Zfp148 A G 16: 33,255,133 (GRCm39) E41G probably benign Het
Zfp677 T C 17: 21,618,544 (GRCm39) S534P probably damaging Het
Other mutations in Or1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Or1e1 APN 11 73,244,869 (GRCm39) missense probably damaging 1.00
IGL02163:Or1e1 APN 11 73,245,320 (GRCm39) missense probably damaging 1.00
R0598:Or1e1 UTSW 11 73,244,729 (GRCm39) missense probably benign
R1348:Or1e1 UTSW 11 73,244,682 (GRCm39) missense probably benign 0.02
R2006:Or1e1 UTSW 11 73,245,518 (GRCm39) missense probably benign
R2085:Or1e1 UTSW 11 73,245,247 (GRCm39) missense possibly damaging 0.95
R2263:Or1e1 UTSW 11 73,245,131 (GRCm39) missense possibly damaging 0.89
R3421:Or1e1 UTSW 11 73,245,460 (GRCm39) missense probably damaging 1.00
R3422:Or1e1 UTSW 11 73,245,460 (GRCm39) missense probably damaging 1.00
R4749:Or1e1 UTSW 11 73,245,322 (GRCm39) missense probably damaging 1.00
R5410:Or1e1 UTSW 11 73,244,632 (GRCm39) missense probably benign 0.11
R6035:Or1e1 UTSW 11 73,244,582 (GRCm39) start codon destroyed probably null 1.00
R6035:Or1e1 UTSW 11 73,244,582 (GRCm39) start codon destroyed probably null 1.00
R6499:Or1e1 UTSW 11 73,245,011 (GRCm39) missense probably damaging 1.00
R7840:Or1e1 UTSW 11 73,244,585 (GRCm39) missense probably benign
R7959:Or1e1 UTSW 11 73,244,744 (GRCm39) missense probably damaging 1.00
R8186:Or1e1 UTSW 11 73,245,247 (GRCm39) missense possibly damaging 0.95
R9072:Or1e1 UTSW 11 73,244,797 (GRCm39) missense probably damaging 1.00
R9135:Or1e1 UTSW 11 73,245,316 (GRCm39) missense probably damaging 0.99
R9225:Or1e1 UTSW 11 73,244,595 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACATGCAGAGCCAGGACTC -3'
(R):5'- AATTTGTGCATAGGACACAAGGATG -3'

Sequencing Primer
(F):5'- TCCATCACCTATGCAGGATGC -3'
(R):5'- TGCATAGGACACAAGGATGAGCAC -3'
Posted On 2015-06-12