Incidental Mutation 'IGL01081:Or4e2'
ID 52661
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL01081
Quality Score
Status
Chromosome 14
Chromosomal Location 52687850-52688859 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52688484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 205 (T205A)
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: T205A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000046688
Gene: ENSMUSG00000035626
AA Change: T205A

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: T205A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000206100
AA Change: T205A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000206437
Predicted Effect probably benign
Transcript: ENSMUST00000206718
Predicted Effect probably benign
Transcript: ENSMUST00000215030
AA Change: T205A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad8 A G 9: 26,901,890 (GRCm39) L158P probably damaging Het
Aco1 A G 4: 40,197,576 (GRCm39) Q860R probably benign Het
Actl11 A T 9: 107,806,181 (GRCm39) Q168L possibly damaging Het
Adam26b T C 8: 43,972,975 (GRCm39) I676V probably benign Het
Aldoart2 A C 12: 55,612,920 (GRCm39) I282L probably benign Het
Capns1 G T 7: 29,889,565 (GRCm39) S211R probably benign Het
Cps1 T C 1: 67,245,983 (GRCm39) V1158A probably damaging Het
Cryl1 C T 14: 57,523,821 (GRCm39) probably null Het
Cxcr5 A G 9: 44,425,607 (GRCm39) probably benign Het
Dcaf13 A G 15: 38,982,201 (GRCm39) K56E probably damaging Het
Dlx6 T G 6: 6,867,068 (GRCm39) S85A probably damaging Het
Dsg2 C T 18: 20,722,999 (GRCm39) probably benign Het
Dync1li1 T A 9: 114,549,665 (GRCm39) S412T possibly damaging Het
Ebf3 C A 7: 136,827,625 (GRCm39) probably benign Het
Fads3 T C 19: 10,030,366 (GRCm39) I168T probably benign Het
Gm10295 G A 7: 71,000,296 (GRCm39) P95S unknown Het
Gm43638 T C 5: 87,634,455 (GRCm39) T51A probably damaging Het
Gm5114 G A 7: 39,060,071 (GRCm39) probably benign Het
Gucy2c G A 6: 136,679,737 (GRCm39) T974M probably damaging Het
Ighv1-19-1 T C 12: 114,672,258 (GRCm39) probably benign Het
Kri1 A T 9: 21,191,723 (GRCm39) L173Q probably damaging Het
Lztfl1 T C 9: 123,531,338 (GRCm39) D210G probably benign Het
Morc2a T A 11: 3,638,149 (GRCm39) N958K probably damaging Het
Msl3l2 G A 10: 55,992,021 (GRCm39) A249T probably benign Het
Nlrp4a A G 7: 26,149,254 (GRCm39) E287G probably benign Het
Nlrp9a A T 7: 26,257,519 (GRCm39) N290I possibly damaging Het
Or2b28 T G 13: 21,531,185 (GRCm39) L29R probably damaging Het
Or5al6 C T 2: 85,976,955 (GRCm39) G41D probably benign Het
Pcsk7 A G 9: 45,840,005 (GRCm39) D731G probably benign Het
Plppr5 T A 3: 117,480,298 (GRCm39) probably benign Het
Podxl T C 6: 31,505,639 (GRCm39) T135A possibly damaging Het
Pole T G 5: 110,485,106 (GRCm39) C407G possibly damaging Het
Prl C A 13: 27,249,024 (GRCm39) N224K possibly damaging Het
Prnp A T 2: 131,778,340 (GRCm39) probably benign Het
Proser2 A G 2: 6,105,149 (GRCm39) *472R probably null Het
Rhag T C 17: 41,122,178 (GRCm39) S38P possibly damaging Het
Rnf146 T C 10: 29,223,856 (GRCm39) D10G probably damaging Het
Rps3a1 T C 3: 86,049,085 (GRCm39) D29G probably benign Het
Sv2a A T 3: 96,097,012 (GRCm39) I446F probably benign Het
Tbc1d30 C A 10: 121,103,319 (GRCm39) R571L probably damaging Het
Tfrc T A 16: 32,443,646 (GRCm39) probably null Het
Tnfaip1 G A 11: 78,419,129 (GRCm39) P156S probably damaging Het
Vmn1r226 T C 17: 20,908,166 (GRCm39) S133P probably damaging Het
Wnt9b C T 11: 103,622,836 (GRCm39) R189K probably damaging Het
Ythdc2 A G 18: 44,983,726 (GRCm39) H564R probably benign Het
Zfp442 C A 2: 150,251,267 (GRCm39) E211* probably null Het
Other mutations in Or4e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1249:Or4e2 UTSW 14 52,687,979 (GRCm39) missense probably benign
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
Posted On 2013-06-21