Incidental Mutation 'IGL01925:Or51e1'
ID 180273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51e1
Ensembl Gene ENSMUSG00000070423
Gene Name olfactory receptor family 51 subfamily E member 1
Synonyms GA_x6K02T2PBJ9-5425951-5426904, MOR18-1, Olfr558
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL01925
Quality Score
Status
Chromosome 7
Chromosomal Location 102351530-102361261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102359410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 315 (S315P)
Ref Sequence ENSEMBL: ENSMUSP00000091674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084817] [ENSMUST00000094124] [ENSMUST00000216312]
AlphaFold Q8VGZ7
Predicted Effect probably benign
Transcript: ENSMUST00000084817
SMART Domains Protein: ENSMUSP00000081877
Gene: ENSMUSG00000066273

DomainStartEndE-ValueType
Pfam:7tm_4 37 317 2.1e-117 PFAM
Pfam:7TM_GPCR_Srsx 41 211 7.5e-11 PFAM
Pfam:7tm_1 47 299 2.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000094124
AA Change: S315P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: S315P

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 6.2e-117 PFAM
Pfam:7TM_GPCR_Srsx 37 308 2.4e-7 PFAM
Pfam:7tm_1 43 293 2.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210002
Predicted Effect probably benign
Transcript: ENSMUST00000216312
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,019,459 (GRCm39) D124G probably damaging Het
Arap3 C T 18: 38,117,299 (GRCm39) V926I probably benign Het
Catspere2 T A 1: 177,842,687 (GRCm39) probably benign Het
Col6a3 C T 1: 90,729,958 (GRCm39) V1176M possibly damaging Het
D5Ertd579e A T 5: 36,771,628 (GRCm39) D922E possibly damaging Het
Dipk2a A C 9: 94,402,509 (GRCm39) D384E probably damaging Het
Epm2a T A 10: 11,324,502 (GRCm39) I197N possibly damaging Het
Faim T G 9: 98,872,972 (GRCm39) probably benign Het
Fkbp15 A G 4: 62,241,450 (GRCm39) I565T probably damaging Het
Fli1 G A 9: 32,377,127 (GRCm39) P47L probably damaging Het
Gli2 T C 1: 118,781,106 (GRCm39) K187R probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hspa5 G A 2: 34,664,730 (GRCm39) V395I probably benign Het
Ide T C 19: 37,255,296 (GRCm39) T836A unknown Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Ints8 C T 4: 11,235,617 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,389,245 (GRCm39) H2060L probably benign Het
Mok T C 12: 110,774,646 (GRCm39) N208S probably benign Het
Morn3 T C 5: 123,184,825 (GRCm39) K5R probably damaging Het
Nalcn C T 14: 123,529,260 (GRCm39) C1405Y possibly damaging Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Ninl A T 2: 150,812,979 (GRCm39) C226S probably damaging Het
Onecut2 T C 18: 64,474,585 (GRCm39) W360R probably damaging Het
Or10al4 A G 17: 38,037,002 (GRCm39) E29G probably benign Het
Or13f5 A G 4: 52,825,910 (GRCm39) N171S probably benign Het
Or1af1 A G 2: 37,110,058 (GRCm39) T186A probably benign Het
Or2d3b T A 7: 106,514,235 (GRCm39) F277I probably damaging Het
Or2w2 T C 13: 21,758,341 (GRCm39) D95G possibly damaging Het
Rai14 A G 15: 10,595,948 (GRCm39) S118P possibly damaging Het
Serpinb7 T C 1: 107,379,399 (GRCm39) S269P probably benign Het
Sesn3 C T 9: 14,231,696 (GRCm39) T209I probably damaging Het
Slit1 T A 19: 41,596,817 (GRCm39) N1094I probably damaging Het
Tep1 C T 14: 51,061,955 (GRCm39) probably benign Het
Top1mt A G 15: 75,528,992 (GRCm39) F584S possibly damaging Het
Trim44 A T 2: 102,230,362 (GRCm39) L223Q probably benign Het
Trim69 T A 2: 121,998,397 (GRCm39) L123Q probably damaging Het
Ubr2 A T 17: 47,265,875 (GRCm39) L1153I possibly damaging Het
Unc13a G A 8: 72,087,187 (GRCm39) T1520I possibly damaging Het
Vmn2r105 A C 17: 20,428,973 (GRCm39) I701S possibly damaging Het
Wrn T C 8: 33,809,208 (GRCm39) T263A probably benign Het
Yeats2 T G 16: 19,998,430 (GRCm39) probably benign Het
Ythdf2 T C 4: 131,938,085 (GRCm39) Y37C probably damaging Het
Zfp169 T C 13: 48,644,239 (GRCm39) probably benign Het
Other mutations in Or51e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Or51e1 APN 7 102,358,772 (GRCm39) missense probably damaging 0.99
IGL02172:Or51e1 APN 7 102,359,051 (GRCm39) missense probably benign
R0197:Or51e1 UTSW 7 102,359,202 (GRCm39) missense probably damaging 1.00
R0883:Or51e1 UTSW 7 102,359,202 (GRCm39) missense probably damaging 1.00
R1870:Or51e1 UTSW 7 102,358,961 (GRCm39) missense possibly damaging 0.92
R2894:Or51e1 UTSW 7 102,358,882 (GRCm39) missense probably damaging 0.99
R4033:Or51e1 UTSW 7 102,358,697 (GRCm39) missense probably damaging 1.00
R4695:Or51e1 UTSW 7 102,358,764 (GRCm39) missense probably damaging 1.00
R4738:Or51e1 UTSW 7 102,359,378 (GRCm39) missense probably damaging 1.00
R4739:Or51e1 UTSW 7 102,359,378 (GRCm39) missense probably damaging 1.00
R4740:Or51e1 UTSW 7 102,359,378 (GRCm39) missense probably damaging 1.00
R4901:Or51e1 UTSW 7 102,359,405 (GRCm39) missense probably benign 0.00
R5187:Or51e1 UTSW 7 102,358,868 (GRCm39) missense probably damaging 1.00
R5385:Or51e1 UTSW 7 102,358,553 (GRCm39) missense probably damaging 1.00
R5529:Or51e1 UTSW 7 102,358,900 (GRCm39) nonsense probably null
R6666:Or51e1 UTSW 7 102,359,135 (GRCm39) splice site probably null
R7318:Or51e1 UTSW 7 102,359,226 (GRCm39) nonsense probably null
R7453:Or51e1 UTSW 7 102,358,724 (GRCm39) missense probably damaging 0.99
R7546:Or51e1 UTSW 7 102,358,996 (GRCm39) missense probably damaging 1.00
R7643:Or51e1 UTSW 7 102,358,745 (GRCm39) missense probably benign 0.00
R8387:Or51e1 UTSW 7 102,359,402 (GRCm39) missense probably benign
R8984:Or51e1 UTSW 7 102,359,219 (GRCm39) missense possibly damaging 0.60
R9154:Or51e1 UTSW 7 102,358,541 (GRCm39) missense probably benign
Posted On 2014-05-07