Incidental Mutation 'R6746:Otor'
ID 532816
Institutional Source Beutler Lab
Gene Symbol Otor
Ensembl Gene ENSMUSG00000027416
Gene Name otoraplin
Synonyms Fdp
MMRRC Submission 044863-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R6746 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 142920393-142923633 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 142921955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028902 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028902] [ENSMUST00000028902]
AlphaFold Q9JIE3
Predicted Effect probably null
Transcript: ENSMUST00000028902
SMART Domains Protein: ENSMUSP00000028902
Gene: ENSMUSG00000027416

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SH3 42 109 1.69e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000028902
SMART Domains Protein: ENSMUSP00000028902
Gene: ENSMUSG00000027416

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
SH3 42 109 1.69e-5 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 100% (58/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,565,195 (GRCm39) L79* probably null Het
Acot3 A G 12: 84,100,248 (GRCm39) N8S probably benign Het
Adora2a T C 10: 75,169,442 (GRCm39) V302A probably benign Het
Anpep A C 7: 79,488,933 (GRCm39) probably null Het
Arrb1 A G 7: 99,250,357 (GRCm39) K392E probably benign Het
Atp8a1 A T 5: 67,908,392 (GRCm39) N444K probably benign Het
Bltp3b T A 10: 89,623,020 (GRCm39) N298K probably benign Het
Brinp2 C T 1: 158,094,160 (GRCm39) G181R probably benign Het
Cacna1g A T 11: 94,300,253 (GRCm39) C2184* probably null Het
Cacna1h C T 17: 25,600,524 (GRCm39) A1606T probably damaging Het
Ccdc30 T C 4: 119,213,915 (GRCm39) T205A probably benign Het
Celsr1 A G 15: 85,915,696 (GRCm39) I759T probably damaging Het
Chaf1a A G 17: 56,370,404 (GRCm39) D623G possibly damaging Het
Col6a3 G T 1: 90,706,767 (GRCm39) N2115K unknown Het
Dync1h1 A T 12: 110,618,087 (GRCm39) T3209S probably damaging Het
Erich6 T C 3: 58,523,987 (GRCm39) D629G possibly damaging Het
Fahd1 G T 17: 25,068,915 (GRCm39) A54E probably damaging Het
Flrt3 C T 2: 140,501,945 (GRCm39) R561Q probably damaging Het
Grm6 A T 11: 50,747,790 (GRCm39) D334V probably damaging Het
Helb A T 10: 119,941,373 (GRCm39) D438E probably damaging Het
Hmgcs1 T C 13: 120,156,585 (GRCm39) probably null Het
Hnf4g C A 3: 3,722,170 (GRCm39) Y441* probably null Het
Hspa13 A T 16: 75,561,925 (GRCm39) N91K possibly damaging Het
Ilvbl T C 10: 78,413,057 (GRCm39) I193T possibly damaging Het
Itga7 T C 10: 128,785,341 (GRCm39) V848A probably benign Het
Kash5 C T 7: 44,849,735 (GRCm39) V63I probably benign Het
Lpin1 A G 12: 16,615,529 (GRCm39) M341T probably benign Het
Lypd5 G T 7: 24,052,531 (GRCm39) probably null Het
Mrgprb1 A C 7: 48,097,645 (GRCm39) V89G possibly damaging Het
Nsun7 T C 5: 66,441,080 (GRCm39) probably null Het
Oasl1 T A 5: 115,075,242 (GRCm39) V434E probably damaging Het
Or2ak6 G A 11: 58,593,369 (GRCm39) V281I probably benign Het
Or7g22 A G 9: 19,048,774 (GRCm39) M162V probably benign Het
Or8k16 T C 2: 85,519,952 (GRCm39) Y60H probably damaging Het
Pik3cg G A 12: 32,244,757 (GRCm39) T899M probably damaging Het
Plaat5 A G 19: 7,590,695 (GRCm39) D74G probably benign Het
Pld2 C A 11: 70,431,933 (GRCm39) L52M probably damaging Het
Pon3 A T 6: 5,230,786 (GRCm39) M247K possibly damaging Het
Ppfia2 C A 10: 106,742,319 (GRCm39) Y1037* probably null Het
Ppm1m A T 9: 106,075,351 (GRCm39) C99* probably null Het
Prss44 A T 9: 110,644,361 (GRCm39) *145C probably null Het
Ptpro T A 6: 137,371,821 (GRCm39) Y613N probably damaging Het
Ralgapb T G 2: 158,318,056 (GRCm39) V866G probably damaging Het
Rassf6 C A 5: 90,757,633 (GRCm39) R109L possibly damaging Het
Rbm4b A C 19: 4,812,031 (GRCm39) T147P probably benign Het
Rpl7l1 T C 17: 47,090,322 (GRCm39) K104R probably benign Het
Ryr1 A T 7: 28,816,829 (GRCm39) I69N possibly damaging Het
Scd1 G T 19: 44,394,927 (GRCm39) F99L probably benign Het
Semp2l1 A T 1: 32,585,844 (GRCm39) I22N probably benign Het
Spint2 A T 7: 28,958,848 (GRCm39) S66T probably benign Het
Tarm1 T A 7: 3,550,978 (GRCm39) I2F probably benign Het
Tenm4 T C 7: 96,542,067 (GRCm39) V1860A probably damaging Het
Usp38 A G 8: 81,740,920 (GRCm39) I49T possibly damaging Het
Vars2 A G 17: 35,971,294 (GRCm39) probably null Het
Vmn2r27 T G 6: 124,177,552 (GRCm39) H484P possibly damaging Het
Wdr35 T A 12: 9,053,982 (GRCm39) probably null Het
Zfp937 A T 2: 150,081,343 (GRCm39) K458* probably null Het
Other mutations in Otor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00786:Otor APN 2 142,921,846 (GRCm39) missense probably damaging 0.97
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
Predicted Primers PCR Primer
(F):5'- TGCACAGCTAAAGGGAGCAC -3'
(R):5'- GAAGAAAGTGTGCCAACCTCAC -3'

Sequencing Primer
(F):5'- CATTACCAGGAGAGGAGTTTCTC -3'
(R):5'- GTGTGCCAACCTCACAACGC -3'
Posted On 2018-08-29