Incidental Mutation 'R5837:Oc90'
ID 449669
Institutional Source Beutler Lab
Gene Symbol Oc90
Ensembl Gene ENSMUSG00000015001
Gene Name otoconin 90
Synonyms PLA2L, Ocn-95, Pla2ll
MMRRC Submission 044057-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R5837 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 65747902-65784246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65748295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 405 (D405G)
Ref Sequence ENSEMBL: ENSMUSP00000078709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015146] [ENSMUST00000060522] [ENSMUST00000079776]
AlphaFold Q9Z0L3
Predicted Effect probably benign
Transcript: ENSMUST00000015146
SMART Domains Protein: ENSMUSP00000015146
Gene: ENSMUSG00000015002

DomainStartEndE-ValueType
SCOP:d1gw5a_ 226 584 5e-4 SMART
low complexity region 709 720 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000060522
AA Change: D437G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: D437G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 74 190 1.75e-15 SMART
PA2c 314 429 3.5e-15 SMART
low complexity region 446 458 N/A INTRINSIC
low complexity region 473 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079776
AA Change: D405G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: D405G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 74 190 1.75e-15 SMART
PA2c 282 397 3.5e-15 SMART
low complexity region 414 426 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000135442
AA Change: D281G
SMART Domains Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: D281G

DomainStartEndE-ValueType
internal_repeat_1 2 67 2.77e-7 PROSPERO
PA2c 159 274 3.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147776
SMART Domains Protein: ENSMUSP00000118937
Gene: ENSMUSG00000015001

DomainStartEndE-ValueType
PA2c 122 220 8.1e-7 SMART
Predicted Effect unknown
Transcript: ENSMUST00000156996
AA Change: D405G
SMART Domains Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: D405G

DomainStartEndE-ValueType
PA2c 58 174 1.75e-15 SMART
PA2c 283 398 3.5e-15 SMART
low complexity region 415 427 N/A INTRINSIC
low complexity region 442 453 N/A INTRINSIC
Meta Mutation Damage Score 0.0681 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 99% (72/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit reduced, enlarged, and loose otoliths, and thin cupula, saccule, utricle and tectorial membranes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 G A 2: 25,323,371 (GRCm39) R113Q probably benign Het
Ank1 A G 8: 23,594,806 (GRCm39) N605D probably damaging Het
Apob A G 12: 8,053,277 (GRCm39) M1240V probably benign Het
Atf1 T A 15: 100,152,265 (GRCm39) I86N probably damaging Het
Best1 T A 19: 9,966,483 (GRCm39) probably null Het
Bet1l C A 7: 140,434,694 (GRCm39) R51L probably benign Het
Bpifa5 A G 2: 154,005,598 (GRCm39) Y60C probably damaging Het
Ccdc141 G T 2: 76,938,781 (GRCm39) Q275K possibly damaging Het
Cep295 T A 9: 15,258,280 (GRCm39) H241L probably damaging Het
Commd7 A G 2: 153,471,144 (GRCm39) V36A possibly damaging Het
Cyld G A 8: 89,468,032 (GRCm39) S555N probably damaging Het
Cyp2j13 A T 4: 95,959,919 (GRCm39) I79N probably damaging Het
Dact2 A G 17: 14,416,515 (GRCm39) S562P probably damaging Het
Dnajc13 T A 9: 104,053,865 (GRCm39) I1664F possibly damaging Het
Ehmt1 A G 2: 24,753,926 (GRCm39) V277A probably damaging Het
Fbn1 A T 2: 125,221,054 (GRCm39) probably null Het
Galnt6 G A 15: 100,592,527 (GRCm39) T560M possibly damaging Het
Glra1 G T 11: 55,427,333 (GRCm39) probably null Het
Gm10762 C T 2: 128,809,077 (GRCm39) probably benign Het
Greb1 C T 12: 16,738,586 (GRCm39) R1459H probably damaging Het
Ift140 A G 17: 25,308,514 (GRCm39) K1048E probably damaging Het
Ilk T C 7: 105,390,378 (GRCm39) probably null Het
Lgi4 C T 7: 30,770,208 (GRCm39) probably benign Het
Loxhd1 A G 18: 77,374,105 (GRCm39) T59A possibly damaging Het
Lzic G T 4: 149,570,457 (GRCm39) probably null Het
Mef2d A G 3: 88,069,088 (GRCm39) T286A probably benign Het
Mycbp2 C A 14: 103,361,839 (GRCm39) C4447F probably damaging Het
Ncoa2 A G 1: 13,294,930 (GRCm39) probably benign Het
Nolc1 T C 19: 46,071,622 (GRCm39) probably benign Het
Npl T C 1: 153,379,271 (GRCm39) T271A probably benign Het
Nudt1 A G 5: 140,320,295 (GRCm39) R25G probably damaging Het
Nudt19 T C 7: 35,251,061 (GRCm39) E226G possibly damaging Het
Or10q1b T A 19: 13,682,324 (GRCm39) C44* probably null Het
Or1e1c A G 11: 73,266,474 (GRCm39) M300V probably benign Het
Or5as1 A T 2: 86,980,699 (GRCm39) F102Y probably benign Het
Or9k2b A T 10: 130,016,266 (GRCm39) L161H probably damaging Het
Pcdhb1 T C 18: 37,398,880 (GRCm39) I277T possibly damaging Het
Pcdhb9 C A 18: 37,535,851 (GRCm39) A615E probably damaging Het
Phrf1 C G 7: 140,839,974 (GRCm39) D1056E probably benign Het
Phyhip C A 14: 70,704,450 (GRCm39) A223E probably damaging Het
Polr2h T A 16: 20,536,682 (GRCm39) I4N probably damaging Het
Ppp1r12c C A 7: 4,500,403 (GRCm39) probably benign Het
Pramel11 A G 4: 143,623,490 (GRCm39) V228A probably benign Het
Psg17 T A 7: 18,554,140 (GRCm39) T37S possibly damaging Het
Ptprz1 T C 6: 23,001,417 (GRCm39) V1169A probably benign Het
Rabgap1l T C 1: 160,134,792 (GRCm39) probably benign Het
Rapgef3 C T 15: 97,655,223 (GRCm39) probably benign Het
Rbp3 C A 14: 33,676,230 (GRCm39) H59Q probably benign Het
Robo3 T A 9: 37,341,112 (GRCm39) probably null Het
Slco4c1 C T 1: 96,746,707 (GRCm39) E712K probably benign Het
Ssh3 T C 19: 4,316,428 (GRCm39) T168A probably benign Het
Stoml2 G T 4: 43,028,989 (GRCm39) N248K probably damaging Het
Tmigd1 A G 11: 76,806,911 (GRCm39) probably benign Het
Tnc T A 4: 63,931,451 (GRCm39) D753V probably damaging Het
Tnik A T 3: 28,722,202 (GRCm39) probably benign Het
Treml1 A G 17: 48,667,180 (GRCm39) S22G possibly damaging Het
Trmt2a C T 16: 18,067,326 (GRCm39) probably benign Het
Ttn T C 2: 76,547,718 (GRCm39) T32151A probably damaging Het
Utp25 A T 1: 192,800,701 (GRCm39) F373Y probably damaging Het
Vmn1r67 T C 7: 10,180,949 (GRCm39) I10T probably benign Het
Vmn2r116 T C 17: 23,606,054 (GRCm39) F322S probably damaging Het
Wdr19 A G 5: 65,360,300 (GRCm39) D35G probably benign Het
Zfp365 A T 10: 67,724,870 (GRCm39) H339Q probably damaging Het
Zfp677 A T 17: 21,617,648 (GRCm39) H235L probably damaging Het
Zpbp2 G A 11: 98,442,097 (GRCm39) probably benign Het
Other mutations in Oc90
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Oc90 APN 15 65,761,440 (GRCm39) missense probably benign 0.00
IGL01746:Oc90 APN 15 65,761,250 (GRCm39) splice site probably benign
IGL02101:Oc90 APN 15 65,769,638 (GRCm39) missense probably damaging 1.00
IGL02175:Oc90 APN 15 65,755,674 (GRCm39) missense possibly damaging 0.96
IGL02691:Oc90 APN 15 65,754,410 (GRCm39) missense probably damaging 1.00
IGL02947:Oc90 APN 15 65,759,983 (GRCm39) missense probably benign 0.16
R0010:Oc90 UTSW 15 65,748,397 (GRCm39) missense probably damaging 1.00
R0325:Oc90 UTSW 15 65,769,514 (GRCm39) critical splice donor site probably null
R1466:Oc90 UTSW 15 65,769,569 (GRCm39) missense probably damaging 1.00
R1466:Oc90 UTSW 15 65,769,569 (GRCm39) missense probably damaging 1.00
R1496:Oc90 UTSW 15 65,748,370 (GRCm39) missense probably damaging 1.00
R1584:Oc90 UTSW 15 65,769,569 (GRCm39) missense probably damaging 1.00
R1837:Oc90 UTSW 15 65,761,529 (GRCm39) missense probably damaging 1.00
R3552:Oc90 UTSW 15 65,750,650 (GRCm39) missense possibly damaging 0.81
R4018:Oc90 UTSW 15 65,759,457 (GRCm39) missense probably benign 0.00
R4515:Oc90 UTSW 15 65,764,242 (GRCm39) missense probably damaging 0.96
R4700:Oc90 UTSW 15 65,753,354 (GRCm39) missense possibly damaging 0.91
R4828:Oc90 UTSW 15 65,753,408 (GRCm39) missense probably damaging 1.00
R5135:Oc90 UTSW 15 65,755,679 (GRCm39) missense probably benign 0.00
R5320:Oc90 UTSW 15 65,754,457 (GRCm39) missense probably benign 0.06
R5727:Oc90 UTSW 15 65,753,388 (GRCm39) missense possibly damaging 0.61
R6086:Oc90 UTSW 15 65,761,560 (GRCm39) missense probably damaging 1.00
R6807:Oc90 UTSW 15 65,761,463 (GRCm39) missense probably damaging 1.00
R8499:Oc90 UTSW 15 65,753,405 (GRCm39) missense probably damaging 1.00
R9213:Oc90 UTSW 15 65,761,557 (GRCm39) nonsense probably null
R9364:Oc90 UTSW 15 65,761,437 (GRCm39) missense probably benign 0.09
R9554:Oc90 UTSW 15 65,761,437 (GRCm39) missense probably benign 0.09
R9631:Oc90 UTSW 15 65,769,629 (GRCm39) missense probably damaging 1.00
Z1177:Oc90 UTSW 15 65,748,196 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCCTGCTAAGGCTCCTATG -3'
(R):5'- TGGTGTCTCAAATCTGCTCC -3'

Sequencing Primer
(F):5'- CTAAGGCTCCTATGGGTGGGAC -3'
(R):5'- CCTCTGCTCTTGCTAAGGTGTG -3'
Posted On 2016-12-20