Incidental Mutation 'IGL03336:Or51k2'
ID 417040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51k2
Ensembl Gene ENSMUSG00000073937
Gene Name olfactory receptor family 51 subfamily K member 2
Synonyms MOR12-5, GA_x6K02T2PBJ9-6681230-6682168, Olfr633
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL03336
Quality Score
Status
Chromosome 7
Chromosomal Location 103595775-103596713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103596616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 281 (L281P)
Ref Sequence ENSEMBL: ENSMUSP00000149105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098188] [ENSMUST00000216006]
AlphaFold Q8VF02
Predicted Effect probably damaging
Transcript: ENSMUST00000098188
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095790
Gene: ENSMUSG00000073937
AA Change: L281P

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 1.3e-120 PFAM
Pfam:7TM_GPCR_Srsx 35 158 7e-10 PFAM
Pfam:7tm_1 41 292 2.5e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216006
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,251 (GRCm39) V63A probably benign Het
Ankrd11 A G 8: 123,618,582 (GRCm39) S1757P probably benign Het
Atp8a1 G T 5: 67,887,150 (GRCm39) Y629* probably null Het
Cenpf T C 1: 189,384,844 (GRCm39) K2479E probably damaging Het
Clip1 G T 5: 123,791,633 (GRCm39) S179* probably null Het
Cmya5 A G 13: 93,230,013 (GRCm39) S1692P possibly damaging Het
Cyp17a1 T C 19: 46,659,474 (GRCm39) S119G probably benign Het
Fndc5 T C 4: 129,033,711 (GRCm39) F160L probably benign Het
Muc5b T C 7: 141,418,100 (GRCm39) V3682A probably damaging Het
Myh8 G T 11: 67,175,528 (GRCm39) D328Y probably damaging Het
Or10a5 T A 7: 106,635,542 (GRCm39) M60K probably damaging Het
Or4c121 T C 2: 89,024,241 (GRCm39) T46A probably benign Het
Or51f1 C T 7: 102,505,823 (GRCm39) C222Y probably benign Het
Or6c203 T C 10: 129,010,098 (GRCm39) E264G probably benign Het
Paxbp1 T C 16: 90,831,060 (GRCm39) I439V probably benign Het
Pcdhb3 T C 18: 37,436,014 (GRCm39) V660A possibly damaging Het
Pcyt2 T C 11: 120,506,758 (GRCm39) D32G probably damaging Het
Pdzph1 A T 17: 59,281,229 (GRCm39) V351D probably benign Het
Ribc2 C T 15: 85,017,114 (GRCm39) Q51* probably null Het
Scn2a A G 2: 65,519,088 (GRCm39) E438G probably damaging Het
Slc18a3 T C 14: 32,184,785 (GRCm39) probably benign Het
Slc5a1 G A 5: 33,304,287 (GRCm39) V296I probably benign Het
Slit3 A T 11: 35,560,928 (GRCm39) T958S probably damaging Het
Spag8 C T 4: 43,652,114 (GRCm39) probably benign Het
Susd3 A C 13: 49,392,258 (GRCm39) S144R probably benign Het
Synpo2 T C 3: 122,907,828 (GRCm39) E496G possibly damaging Het
Tbcel T C 9: 42,350,427 (GRCm39) T269A probably benign Het
Tmem156 A G 5: 65,233,107 (GRCm39) Y152H probably benign Het
Tmem247 A G 17: 87,225,857 (GRCm39) E99G probably damaging Het
Tuba3b A G 6: 145,565,450 (GRCm39) D306G possibly damaging Het
Vps13c T A 9: 67,858,924 (GRCm39) D2791E possibly damaging Het
Ypel4 A G 2: 84,567,871 (GRCm39) Y98C probably damaging Het
Other mutations in Or51k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Or51k2 APN 7 103,596,204 (GRCm39) missense probably benign 0.03
IGL01728:Or51k2 APN 7 103,595,959 (GRCm39) missense probably damaging 1.00
IGL02125:Or51k2 APN 7 103,596,279 (GRCm39) missense probably damaging 1.00
IGL02332:Or51k2 APN 7 103,596,127 (GRCm39) missense probably damaging 0.98
R0611:Or51k2 UTSW 7 103,596,400 (GRCm39) missense probably damaging 1.00
R1341:Or51k2 UTSW 7 103,596,589 (GRCm39) missense possibly damaging 0.95
R1971:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R2171:Or51k2 UTSW 7 103,595,992 (GRCm39) missense probably damaging 1.00
R4958:Or51k2 UTSW 7 103,595,808 (GRCm39) missense probably damaging 1.00
R6700:Or51k2 UTSW 7 103,596,531 (GRCm39) missense probably damaging 1.00
R7585:Or51k2 UTSW 7 103,596,607 (GRCm39) missense probably benign 0.01
R7640:Or51k2 UTSW 7 103,596,150 (GRCm39) missense probably damaging 1.00
R8330:Or51k2 UTSW 7 103,596,610 (GRCm39) missense possibly damaging 0.56
R8463:Or51k2 UTSW 7 103,595,834 (GRCm39) splice site probably null
R8489:Or51k2 UTSW 7 103,596,328 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02