Incidental Mutation 'IGL00786:Otor'
ID 13667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Otor
Ensembl Gene ENSMUSG00000027416
Gene Name otoraplin
Synonyms Fdp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL00786
Quality Score
Status
Chromosome 2
Chromosomal Location 142920393-142923633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142921846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 86 (V86I)
Ref Sequence ENSEMBL: ENSMUSP00000028902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028902]
AlphaFold Q9JIE3
Predicted Effect probably damaging
Transcript: ENSMUST00000028902
AA Change: V86I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028902
Gene: ENSMUSG00000027416
AA Change: V86I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SH3 42 109 1.69e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this gene can abolish translation and may be associated with forms of deafness. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,265,851 (GRCm39) N242S probably benign Het
Akap9 C A 5: 4,120,522 (GRCm39) A3646E probably damaging Het
Akt1 C A 12: 112,624,105 (GRCm39) G233V probably damaging Het
B3gat3 A G 19: 8,904,149 (GRCm39) E320G probably benign Het
Bltp3a T A 17: 28,098,266 (GRCm39) I136N probably damaging Het
Bpifa5 G A 2: 154,009,172 (GRCm39) C238Y probably damaging Het
Camkmt T C 17: 85,403,919 (GRCm39) V47A probably damaging Het
Ccnl2 C T 4: 155,905,337 (GRCm39) R284W probably damaging Het
Chl1 G T 6: 103,652,106 (GRCm39) V341F probably damaging Het
Cst3 A T 2: 148,714,797 (GRCm39) C93* probably null Het
Ctsh T C 9: 89,946,291 (GRCm39) V119A probably damaging Het
Dmap1 C T 4: 117,533,593 (GRCm39) R225Q possibly damaging Het
Ehbp1 A G 11: 22,050,460 (GRCm39) S479P possibly damaging Het
Eml2 A G 7: 18,936,507 (GRCm39) Y528C probably damaging Het
Faim G A 9: 98,874,218 (GRCm39) G15R probably damaging Het
G6pc3 A G 11: 102,083,931 (GRCm39) M186V probably benign Het
Gpr37 A G 6: 25,669,317 (GRCm39) V509A possibly damaging Het
Heatr5b G T 17: 79,132,063 (GRCm39) H347N possibly damaging Het
Idh1 A G 1: 65,205,402 (GRCm39) S188P probably damaging Het
Mphosph8 T C 14: 56,910,001 (GRCm39) V118A probably benign Het
Mthfsd C T 8: 121,831,207 (GRCm39) R91Q probably damaging Het
Pdk2 T A 11: 94,922,761 (GRCm39) T140S probably benign Het
Pnliprp2 A G 19: 58,748,929 (GRCm39) N78S probably benign Het
Rimbp3 C T 16: 17,029,552 (GRCm39) T992M probably damaging Het
Sdad1 A T 5: 92,451,632 (GRCm39) probably null Het
Sidt2 A G 9: 45,861,101 (GRCm39) S71P possibly damaging Het
Slc44a2 T A 9: 21,257,231 (GRCm39) V390E probably damaging Het
Tmem168 T C 6: 13,602,674 (GRCm39) I231V probably benign Het
Vim T C 2: 13,583,321 (GRCm39) probably null Het
Other mutations in Otor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01309:Otor APN 2 142,920,532 (GRCm39) missense possibly damaging 0.80
IGL02745:Otor APN 2 142,923,076 (GRCm39) missense possibly damaging 0.50
R5917:Otor UTSW 2 142,920,431 (GRCm39) missense probably benign 0.00
R6132:Otor UTSW 2 142,920,520 (GRCm39) missense probably damaging 1.00
R6746:Otor UTSW 2 142,921,955 (GRCm39) critical splice donor site probably null
Posted On 2012-12-06