Incidental Mutation 'IGL02691:Oc90'
ID303749
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: 0.076) question?
Stock #IGL02691
Quality Score
Status
Chromosome15
Chromosomal Location65876053-65912397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65882561 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 252 (S252P)
Ref Sequence ENSEMBL: ENSMUSP00000078709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060522] [ENSMUST00000079776]
Predicted Effect probably damaging
Transcript: ENSMUST00000060522
AA Change: S285P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062865
Gene: ENSMUSG00000015001
AA Change: S285P

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: S252P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078709
Gene: ENSMUSG00000015001
AA Change: S252P

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 probably benign
Transcript: ENSMUST00000135442
AA Change: S129P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114254
Gene: ENSMUSG00000015001
AA Change: S129P

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 probably benign
Transcript: ENSMUST00000156996
AA Change: S252P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121227
Gene: ENSMUSG00000015001
AA Change: S252P

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Atp6v1a A G 16: 44,111,619 I102T probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Olfr681 A G 7: 105,122,131 I225V probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Plcb2 T C 2: 118,710,963 K997R probably benign Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scamp5 G T 9: 57,451,377 R39S probably damaging Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vipr2 T A 12: 116,136,229 C239S probably benign Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T 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
IGL02101:Oc90 APN 15 65897789 missense probably damaging 1.00
IGL02175:Oc90 APN 15 65883825 missense possibly damaging 0.96
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
Posted On2015-04-16