Incidental Mutation 'IGL02101:Oc90'
ID279753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oc90
Ensembl Gene ENSMUSG00000015001
Gene Nameotoconin 90
SynonymsPla2ll, PLA2L, Ocn-95
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02101
Quality Score
Status
Chromosome15
Chromosomal Location65876053-65912397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 65897789 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 73 (P73Q)
Ref Sequence ENSEMBL: ENSMUSP00000078709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060522] [ENSMUST00000079776]
Predicted Effect probably damaging
Transcript: ENSMUST00000060522
AA Change: P73Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: P73Q

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 damaging
Transcript: ENSMUST00000079776
AA Change: P73Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: P73Q

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: ENSMUST00000156996
AA Change: P56Q
SMART Domains Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: P56Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd163 T A 6: 124,307,287 C139* probably null Het
Ces2g A G 8: 104,965,137 probably null Het
Ckap5 T C 2: 91,572,540 probably benign Het
Cmtm7 T C 9: 114,763,268 H87R probably damaging Het
Dennd3 A G 15: 73,527,945 D220G possibly damaging Het
Dpp10 T C 1: 123,411,826 Y324C probably damaging Het
Dsc3 C T 18: 20,001,906 R7Q probably benign Het
Ezh1 T C 11: 101,195,566 K598E possibly damaging Het
Ighv7-3 A G 12: 114,153,425 L39P probably damaging Het
Il1rap T A 16: 26,624,182 S9R possibly damaging Het
Mrgpra3 A G 7: 47,589,552 C209R probably damaging Het
Olfr164 T C 16: 19,286,613 I43M probably benign Het
Olfr401 G A 11: 74,121,745 W152* probably null Het
Pccb A G 9: 100,987,841 F346L possibly damaging Het
Pdxdc1 A G 16: 13,869,856 I225T probably damaging Het
Pold3 A T 7: 100,100,496 M154K probably damaging Het
Polr1a T G 6: 71,950,802 C846G probably benign Het
Ppip5k1 C A 2: 121,331,608 R978L possibly damaging Het
Ptpn4 A G 1: 119,687,678 V582A probably damaging Het
Sez6l G T 5: 112,472,746 Q323K probably damaging Het
Slc27a5 A T 7: 12,993,343 I384N possibly damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Slc7a2 T C 8: 40,902,594 F227L probably benign Het
Smad4 C A 18: 73,658,652 A273S probably benign Het
Spata17 T C 1: 187,117,460 I84V probably benign Het
Sphkap T C 1: 83,290,987 T95A probably damaging Het
Tie1 T C 4: 118,472,798 D1076G probably benign Het
Other mutations in Oc90
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Oc90 APN 15 65889591 missense probably benign 0.00
IGL01746:Oc90 APN 15 65889401 splice site probably benign
IGL02175:Oc90 APN 15 65883825 missense possibly damaging 0.96
IGL02691:Oc90 APN 15 65882561 missense probably damaging 1.00
IGL02947:Oc90 APN 15 65888134 missense probably benign 0.16
R0010:Oc90 UTSW 15 65876548 missense probably damaging 1.00
R0325:Oc90 UTSW 15 65897665 critical splice donor site probably null
R1466:Oc90 UTSW 15 65897720 missense probably damaging 1.00
R1466:Oc90 UTSW 15 65897720 missense probably damaging 1.00
R1496:Oc90 UTSW 15 65876521 missense probably damaging 1.00
R1584:Oc90 UTSW 15 65897720 missense probably damaging 1.00
R1837:Oc90 UTSW 15 65889680 missense probably damaging 1.00
R3552:Oc90 UTSW 15 65878801 missense possibly damaging 0.81
R4018:Oc90 UTSW 15 65887608 missense probably benign 0.00
R4515:Oc90 UTSW 15 65892393 missense probably damaging 0.96
R4700:Oc90 UTSW 15 65881505 missense possibly damaging 0.91
R4828:Oc90 UTSW 15 65881559 missense probably damaging 1.00
R5135:Oc90 UTSW 15 65883830 missense probably benign 0.00
R5320:Oc90 UTSW 15 65882608 missense probably benign 0.06
R5727:Oc90 UTSW 15 65881539 missense possibly damaging 0.61
R5837:Oc90 UTSW 15 65876446 missense probably benign 0.03
R6086:Oc90 UTSW 15 65889711 missense probably damaging 1.00
R6807:Oc90 UTSW 15 65889614 missense probably damaging 1.00
Z1177:Oc90 UTSW 15 65876347 missense probably damaging 1.00
Posted On2015-04-16