Incidental Mutation 'IGL01670:Or51e1'
ID 103455
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: 0.074) question?
Stock # IGL01670
Quality Score
Status
Chromosome 7
Chromosomal Location 102351530-102361261 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102358772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 102 (Q102L)
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: Q102L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091674
Gene: ENSMUSG00000070423
AA Change: Q102L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acy1 A C 9: 106,314,006 (GRCm39) probably benign Het
Add1 C A 5: 34,777,407 (GRCm39) Q57K probably damaging Het
Alms1 A G 6: 85,655,132 (GRCm39) E3226G probably benign Het
Arl1 G T 10: 88,577,884 (GRCm39) R151L probably damaging Het
Cabs1 T A 5: 88,127,869 (GRCm39) D173E possibly damaging Het
Cdc34b T C 11: 94,632,845 (GRCm39) L15P probably benign Het
Cdyl2 A G 8: 117,351,092 (GRCm39) V13A probably damaging Het
Chd7 G T 4: 8,827,033 (GRCm39) R1026L probably damaging Het
Cldn34b4 T C X: 75,441,195 (GRCm39) S151P probably damaging Het
Col14a1 T A 15: 55,192,662 (GRCm39) I25N unknown Het
Crisp4 T A 1: 18,198,901 (GRCm39) T178S probably benign Het
Csmd2 C T 4: 128,407,164 (GRCm39) probably benign Het
Csmd3 T G 15: 47,475,225 (GRCm39) N2454H probably damaging Het
Cytip A T 2: 58,023,785 (GRCm39) I345N probably damaging Het
Frem2 A T 3: 53,564,358 (GRCm39) S50T possibly damaging Het
Gm9747 C T 1: 82,211,870 (GRCm39) probably benign Het
Gpr37 A G 6: 25,669,833 (GRCm39) F337S probably damaging Het
Herc1 A G 9: 66,394,342 (GRCm39) E4182G probably damaging Het
Isyna1 C T 8: 71,049,706 (GRCm39) P511L probably benign Het
Kdm4a T C 4: 118,017,698 (GRCm39) Y456C probably damaging Het
Kera A T 10: 97,444,939 (GRCm39) R99S possibly damaging Het
Larp7-ps T C 4: 92,079,737 (GRCm39) probably null Het
Mcm2 A G 6: 88,864,614 (GRCm39) probably benign Het
Myl12a T C 17: 71,303,848 (GRCm39) T10A probably benign Het
Nav3 A G 10: 109,550,102 (GRCm39) V1876A possibly damaging Het
Nkx6-1 T A 5: 101,809,806 (GRCm39) Q247L probably benign Het
Nol8 A C 13: 49,814,784 (GRCm39) K297N possibly damaging Het
Or4c119 T A 2: 88,987,261 (GRCm39) Y86F probably benign Het
Or5w18 A G 2: 87,633,224 (GRCm39) T164A probably benign Het
Pard3b A T 1: 62,250,807 (GRCm39) N579Y probably damaging Het
Pdcd11 T A 19: 47,094,743 (GRCm39) L509H probably damaging Het
Prss29 T C 17: 25,541,437 (GRCm39) S266P probably benign Het
Rapgef3 G T 15: 97,647,543 (GRCm39) H766N probably benign Het
Rasa1 A T 13: 85,373,609 (GRCm39) S818T probably damaging Het
Rtn4ip1 A G 10: 43,804,322 (GRCm39) M1V probably null Het
Sall1 A T 8: 89,758,199 (GRCm39) V635D probably benign Het
Slc35b4 C T 6: 34,147,484 (GRCm39) V35I probably benign Het
Slc5a11 G A 7: 122,869,172 (GRCm39) A587T probably benign Het
Slc6a21 T C 7: 44,937,557 (GRCm39) V616A possibly damaging Het
Sorl1 A G 9: 41,912,788 (GRCm39) S1398P possibly damaging Het
Srcap A G 7: 127,127,604 (GRCm39) K390E probably damaging Het
Sycp2 C T 2: 178,019,843 (GRCm39) E558K probably benign Het
Tcf20 T C 15: 82,739,564 (GRCm39) N629S possibly damaging Het
Tmem154 A G 3: 84,591,537 (GRCm39) Y29C probably damaging Het
Tmtc3 A G 10: 100,282,987 (GRCm39) I856T probably benign Het
Zswim6 A G 13: 107,865,101 (GRCm39) noncoding transcript Het
Other mutations in Or51e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01925:Or51e1 APN 7 102,359,410 (GRCm39) missense probably damaging 0.98
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 2014-01-21