Incidental Mutation 'R8186:Or1e1'
ID 634876
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 067609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8186 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 73241685-73245525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73245247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 223 (S223P)
Ref Sequence ENSEMBL: ENSMUSP00000114110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108465] [ENSMUST00000117445] [ENSMUST00000120137]
AlphaFold Q7TRX9
Predicted Effect possibly damaging
Transcript: ENSMUST00000108465
AA Change: S223P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104105
Gene: ENSMUSG00000062128
AA Change: S223P

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 possibly damaging
Transcript: ENSMUST00000120137
AA Change: S223P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114110
Gene: ENSMUSG00000062128
AA Change: S223P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (43/43)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 G A 6: 86,085,002 (GRCm39) V543M probably benign Het
Agl A G 3: 116,552,557 (GRCm39) I459T possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Atg16l2 C T 7: 100,945,714 (GRCm39) probably null Het
Bltp2 A G 11: 78,177,457 (GRCm39) T1921A probably damaging Het
C130073F10Rik G A 4: 101,748,031 (GRCm39) R48* probably null Het
Cdc25b C T 2: 131,031,050 (GRCm39) T125M probably benign Het
Cdc42bpg T A 19: 6,356,895 (GRCm39) F50L probably damaging Het
Chd9 T A 8: 91,725,233 (GRCm39) D1187E unknown Het
Col4a2 T C 8: 11,475,542 (GRCm39) probably null Het
Cped1 T C 6: 22,123,587 (GRCm39) S447P probably benign Het
Ddx19a T A 8: 111,710,274 (GRCm39) M109L probably benign Het
Def8 C A 8: 124,188,215 (GRCm39) Y431* probably null Het
Gata4 A G 14: 63,438,962 (GRCm39) S373P probably benign Het
Gm9837 A T 11: 53,361,136 (GRCm39) L26* probably null Het
Hspa1b A T 17: 35,176,557 (GRCm39) V476E probably damaging Het
Htr5b G A 1: 121,456,108 (GRCm39) probably benign Het
Hydin T C 8: 111,336,277 (GRCm39) V5018A probably benign Het
Ighv1-85 A G 12: 115,963,923 (GRCm39) S26P probably benign Het
Kics2 T A 10: 121,581,247 (GRCm39) F83I possibly damaging Het
Lrrc2 A G 9: 110,789,910 (GRCm39) K56E possibly damaging Het
Macf1 A T 4: 123,266,219 (GRCm39) I6793N probably damaging Het
Macf1 A C 4: 123,275,923 (GRCm39) V6215G possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nfxl1 A G 5: 72,716,355 (GRCm39) probably null Het
Odad4 A G 11: 100,454,505 (GRCm39) D430G probably benign Het
Oprk1 A T 1: 5,672,540 (GRCm39) M226L probably benign Het
Phf2 A G 13: 48,961,227 (GRCm39) L821P unknown Het
Rdh7 C A 10: 127,723,284 (GRCm39) probably null Het
Rpl11 A G 4: 135,778,968 (GRCm39) V74A possibly damaging Het
Safb2 G A 17: 56,873,051 (GRCm39) R790C possibly damaging Het
Sgpp2 T C 1: 78,393,609 (GRCm39) F204S probably benign Het
Sgsm3 A C 15: 80,893,643 (GRCm39) I426L possibly damaging Het
Speer1b A G 5: 11,823,926 (GRCm39) D158G probably damaging Het
Styxl2 A G 1: 165,927,648 (GRCm39) S655P probably damaging Het
Tbccd1 A G 16: 22,637,189 (GRCm39) L545P probably damaging Het
Toporsl T A 4: 52,610,489 (GRCm39) F127L probably damaging Het
Ttn T G 2: 76,749,256 (GRCm39) Q3931P probably damaging Het
Tuba1c C A 15: 98,935,396 (GRCm39) L286I probably benign Het
Usp48 A G 4: 137,348,507 (GRCm39) R528G possibly damaging Het
Utrn T C 10: 12,573,867 (GRCm39) T1068A probably benign Het
Vmn2r103 A T 17: 20,032,205 (GRCm39) T660S probably damaging Het
Vmn2r105 G T 17: 20,444,880 (GRCm39) Y537* probably null Het
Vmn2r88 A T 14: 51,656,157 (GRCm39) I744F Het
Wnt9b T C 11: 103,621,601 (GRCm39) E352G probably damaging Het
Zfp78 A G 7: 6,376,228 (GRCm39) N46D 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
R4229:Or1e1 UTSW 11 73,245,058 (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
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'- GTGCTGACCACTTTCCATGC -3'
(R):5'- GAGTCACCACTGTGTACATCATG -3'

Sequencing Primer
(F):5'- ATACCCTGCTCATGGCCAGATTG -3'
(R):5'- ACTGTGTACATCATGGCCATG -3'
Posted On 2020-07-13