Incidental Mutation 'IGL03166:Or51e2'
ID 411640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51e2
Ensembl Gene ENSMUSG00000043366
Gene Name olfactory receptor family 51 subfamily E member 2
Synonyms PSGR, MOL2.3, RA1c, MOR18-2, 4633402A21Rik, Olfr78, GA_x6K02T2PBJ9-5459657-5458695
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # IGL03166
Quality Score
Status
Chromosome 7
Chromosomal Location 102389928-102408678 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102391254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 319 (N319D)
Ref Sequence ENSEMBL: ENSMUSP00000149274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060187] [ENSMUST00000168007] [ENSMUST00000217123]
AlphaFold Q8VBV9
Predicted Effect probably benign
Transcript: ENSMUST00000060187
AA Change: N319D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000058085
Gene: ENSMUSG00000043366
AA Change: N319D

DomainStartEndE-ValueType
Pfam:7tm_4 30 309 1.9e-111 PFAM
Pfam:7TM_GPCR_Srsx 34 252 1.4e-8 PFAM
Pfam:7tm_1 40 291 2.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168007
AA Change: N319D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133255
Gene: ENSMUSG00000043366
AA Change: N319D

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 34 252 1.4e-8 PFAM
Pfam:7tm_1 40 291 1.4e-25 PFAM
Pfam:7tm_4 140 284 2.8e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209365
Predicted Effect probably benign
Transcript: ENSMUST00000217123
AA Change: N319D

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]
PHENOTYPE: Targeted inactivation of this gene leads to alterations in olfactory sensory neuron development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Ankfn1 G T 11: 89,429,264 (GRCm39) A40D probably benign Het
Arhgap20 T A 9: 51,761,077 (GRCm39) I940K possibly damaging Het
Arhgap24 T C 5: 103,023,552 (GRCm39) probably benign Het
Bdp1 T C 13: 100,172,308 (GRCm39) T2103A probably benign Het
Cep350 A G 1: 155,739,346 (GRCm39) S2166P possibly damaging Het
Dlg2 T C 7: 91,549,938 (GRCm39) probably benign Het
Fhip2b A T 14: 70,827,616 (GRCm39) C160S probably damaging Het
Fyco1 A T 9: 123,657,452 (GRCm39) L908H probably benign Het
Gprc5b C A 7: 118,583,222 (GRCm39) A216S probably benign Het
Lamc1 A G 1: 153,208,047 (GRCm39) V80A probably benign Het
Lilra6 T C 7: 3,915,626 (GRCm39) I370V possibly damaging Het
Lim2 T A 7: 43,080,047 (GRCm39) C11* probably null Het
Lrp1b T A 2: 41,001,050 (GRCm39) H2058L probably damaging Het
Lrp3 G T 7: 34,901,905 (GRCm39) L659I probably benign Het
Lrrc8a T G 2: 30,145,377 (GRCm39) S64A probably benign Het
Lsr C T 7: 30,661,522 (GRCm39) probably null Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Man2c1 T A 9: 57,046,382 (GRCm39) V479E probably damaging Het
Mtf2 T A 5: 108,254,586 (GRCm39) D462E probably benign Het
Mx2 T C 16: 97,347,990 (GRCm39) I205T probably damaging Het
Nos1 T A 5: 118,052,517 (GRCm39) probably benign Het
Optc C T 1: 133,831,530 (GRCm39) probably benign Het
Orm1 C A 4: 63,262,831 (GRCm39) probably benign Het
Pdzd8 T C 19: 59,288,940 (GRCm39) E820G probably damaging Het
Pkp1 A T 1: 135,805,862 (GRCm39) M612K probably damaging Het
Pno1 T A 11: 17,154,513 (GRCm39) probably null Het
Rbm34 T C 8: 127,697,606 (GRCm39) Q35R probably damaging Het
Ryr3 A T 2: 112,471,457 (GRCm39) Y4564* probably null Het
Slc34a3 T C 2: 25,122,186 (GRCm39) I140V probably damaging Het
Slc43a1 T C 2: 84,687,700 (GRCm39) I419T possibly damaging Het
Sltm C A 9: 70,450,251 (GRCm39) A17E possibly damaging Het
Smpdl3b T C 4: 132,468,842 (GRCm39) D125G probably benign Het
Snorc A C 1: 87,402,933 (GRCm39) probably benign Het
Supt3 G T 17: 45,234,106 (GRCm39) A48S probably damaging Het
Tlr3 A G 8: 45,855,965 (GRCm39) F72L probably benign Het
Trim36 T C 18: 46,345,388 (GRCm39) E15G probably benign Het
Tubb4b-ps1 A T 5: 7,229,965 (GRCm39) probably benign Het
Vmn2r68 T C 7: 84,871,331 (GRCm39) T651A probably benign Het
Wdr76 G T 2: 121,364,787 (GRCm39) V462F possibly damaging Het
Wnk2 C A 13: 49,224,520 (GRCm39) G1112* probably null Het
Zfp868 A C 8: 70,064,965 (GRCm39) C123W probably damaging Het
Zyg11b T A 4: 108,123,086 (GRCm39) M294L probably benign Het
Other mutations in Or51e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Or51e2 APN 7 102,391,469 (GRCm39) missense probably damaging 1.00
IGL02071:Or51e2 APN 7 102,391,355 (GRCm39) missense probably damaging 1.00
R0415:Or51e2 UTSW 7 102,391,294 (GRCm39) missense probably benign 0.02
R0781:Or51e2 UTSW 7 102,392,214 (GRCm39) utr 5 prime probably benign
R1676:Or51e2 UTSW 7 102,391,605 (GRCm39) missense probably damaging 1.00
R1858:Or51e2 UTSW 7 102,391,571 (GRCm39) missense probably damaging 1.00
R2391:Or51e2 UTSW 7 102,391,581 (GRCm39) missense possibly damaging 0.63
R4542:Or51e2 UTSW 7 102,391,850 (GRCm39) missense probably damaging 1.00
R4671:Or51e2 UTSW 7 102,391,808 (GRCm39) missense probably damaging 0.98
R5400:Or51e2 UTSW 7 102,391,637 (GRCm39) missense probably benign 0.00
R7015:Or51e2 UTSW 7 102,391,651 (GRCm39) missense probably damaging 1.00
R7133:Or51e2 UTSW 7 102,391,524 (GRCm39) missense probably damaging 1.00
R7247:Or51e2 UTSW 7 102,391,551 (GRCm39) missense probably damaging 0.99
R8259:Or51e2 UTSW 7 102,392,034 (GRCm39) missense probably damaging 1.00
R8772:Or51e2 UTSW 7 102,392,210 (GRCm39) start gained probably benign
R9095:Or51e2 UTSW 7 102,391,473 (GRCm39) missense possibly damaging 0.54
Posted On 2016-08-02