Incidental Mutation 'R1249:Or4e2'
ID 151710
Institutional Source Beutler Lab
Gene Symbol Or4e2
Ensembl Gene ENSMUSG00000035626
Gene Name olfactory receptor family 4 subfamily E member 2
Synonyms MOR83, Olfr1509, MOR244-3, GA_x6K02T2RJGY-534312-533386
MMRRC Submission 039316-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # R1249 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 52687850-52688859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 52687979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 36 (M36I)
Ref Sequence ENSEMBL: ENSMUSP00000150016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045066] [ENSMUST00000205900] [ENSMUST00000206100] [ENSMUST00000206437] [ENSMUST00000206718] [ENSMUST00000215030]
AlphaFold Q7TQQ0
Predicted Effect probably benign
Transcript: ENSMUST00000045066
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: M36I

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 1.3e-50 PFAM
Pfam:7TM_GPCR_Srsx 35 301 3.3e-6 PFAM
Pfam:7tm_1 41 287 6.8e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205900
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206100
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206437
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206718
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215030
AA Change: M36I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.3%
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b2 A C 3: 89,855,111 (GRCm39) N586K possibly damaging Het
Clca3a2 T C 3: 144,508,765 (GRCm39) R685G possibly damaging Het
Cpxm2 A G 7: 131,730,079 (GRCm39) probably null Het
Dsg4 A T 18: 20,579,929 (GRCm39) R45* probably null Het
Lama4 A G 10: 38,951,474 (GRCm39) E1073G probably damaging Het
Mug1 A G 6: 121,826,420 (GRCm39) I167V probably benign Het
Prox1 C T 1: 189,879,258 (GRCm39) R640H possibly damaging Het
Rad50 T A 11: 53,582,964 (GRCm39) E476D probably damaging Het
Sars1 A G 3: 108,343,251 (GRCm39) V80A probably benign Het
Setd2 T A 9: 110,402,948 (GRCm39) M1863K probably damaging Het
Slc13a1 G T 6: 24,133,649 (GRCm39) P201Q probably benign Het
Taok1 A C 11: 77,462,463 (GRCm39) W209G probably damaging Het
Vmn1r217 T A 13: 23,298,818 (GRCm39) H28L probably benign Het
Other mutations in Or4e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01081:Or4e2 APN 14 52,688,484 (GRCm39) missense probably benign 0.00
IGL01694:Or4e2 APN 14 52,688,041 (GRCm39) missense probably benign
IGL02656:Or4e2 APN 14 52,688,166 (GRCm39) missense possibly damaging 0.60
R0244:Or4e2 UTSW 14 52,687,969 (GRCm39) missense probably benign 0.00
R1601:Or4e2 UTSW 14 52,687,899 (GRCm39) missense probably benign 0.00
R1717:Or4e2 UTSW 14 52,688,296 (GRCm39) missense probably benign 0.00
R1953:Or4e2 UTSW 14 52,688,344 (GRCm39) missense probably benign 0.00
R4689:Or4e2 UTSW 14 52,688,671 (GRCm39) missense probably benign
R4943:Or4e2 UTSW 14 52,688,051 (GRCm39) nonsense probably null
R6223:Or4e2 UTSW 14 52,688,136 (GRCm39) missense probably benign 0.00
R6516:Or4e2 UTSW 14 52,688,586 (GRCm39) missense probably damaging 1.00
R7323:Or4e2 UTSW 14 52,688,670 (GRCm39) missense probably benign 0.00
R7507:Or4e2 UTSW 14 52,687,930 (GRCm39) missense probably benign 0.00
R7674:Or4e2 UTSW 14 52,687,899 (GRCm39) missense probably benign 0.00
R9010:Or4e2 UTSW 14 52,688,556 (GRCm39) missense possibly damaging 0.82
R9505:Or4e2 UTSW 14 52,687,929 (GRCm39) missense probably benign
Z1088:Or4e2 UTSW 14 52,688,666 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAAATAATGAGTGGTCTTCCTTGGAGC -3'
(R):5'- GGTCTTCCTCTCTAAAAGCAAACCCTC -3'

Sequencing Primer
(F):5'- GGCACAAGTCTGATACTATTCTTTG -3'
(R):5'- TCAAGCATCTTGGGCACG -3'
Posted On 2014-01-29