Incidental Mutation 'IGL01343:Oc90'
ID 74952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oc90
Ensembl Gene ENSMUSG00000015001
Gene Name otoconin 90
Synonyms PLA2L, Ocn-95, Pla2ll
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # IGL01343
Quality Score
Status
Chromosome 15
Chromosomal Location 65747902-65784246 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65761440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 193 (T193A)
Ref Sequence ENSEMBL: ENSMUSP00000078709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060522] [ENSMUST00000079776]
AlphaFold Q9Z0L3
Predicted Effect probably benign
Transcript: ENSMUST00000060522
AA Change: T193A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: T193A

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: T193A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: T193A

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: T70A
SMART Domains Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: T70A

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: T176A
SMART Domains Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: T176A

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
Akp3 G T 1: 87,054,858 (GRCm39) probably benign Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Enpp3 A T 10: 24,681,820 (GRCm39) Y295* probably null Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pacsin2 T C 15: 83,270,887 (GRCm39) H254R probably damaging Het
Pif1 T A 9: 65,496,844 (GRCm39) M319K probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Slc22a3 A T 17: 12,644,516 (GRCm39) W490R probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Oc90
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5837:Oc90 UTSW 15 65,748,295 (GRCm39) missense probably benign 0.03
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
Posted On 2013-10-07