Incidental Mutation 'IGL01105:Postn'
ID 50743
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Postn
Ensembl Gene ENSMUSG00000027750
Gene Name periostin, osteoblast specific factor
Synonyms A630052E07Rik, peri, Periostin, Osf2, OSF-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01105
Quality Score
Status
Chromosome 3
Chromosomal Location 54268530-54298458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 54270131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 70 (I70S)
Ref Sequence ENSEMBL: ENSMUSP00000112735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073012] [ENSMUST00000081564] [ENSMUST00000107985] [ENSMUST00000117373]
AlphaFold Q62009
Predicted Effect probably damaging
Transcript: ENSMUST00000073012
AA Change: I70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: I70S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000081564
AA Change: I70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: I70S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
low complexity region 669 680 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107985
AA Change: I70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: I70S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
low complexity region 669 680 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117373
AA Change: I70S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: I70S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
FAS1 135 235 7.81e-30 SMART
FAS1 272 370 2.31e-32 SMART
FAS1 406 497 2.43e-17 SMART
FAS1 534 633 2.5e-28 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted extracellular matrix protein that functions in tissue development and regeneration, including wound healing and ventricular remodeling following myocardial infarction. The encoded protein binds to integrins to support adhesion and migration of epithelial cells. This protein plays a role in cancer stem cell maintenance and metastasis. Mice lacking this gene exhibit cardiac valve disease, and skeletal and dental defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display abnormalities of the enamel, periodontal ligament, ameloblasts, and incisors. For one allele changing the hardness of the food alters the severity of the abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T A 11: 105,862,885 (GRCm39) V302E probably damaging Het
Ahcy T C 2: 154,909,281 (GRCm39) D86G probably benign Het
Antxr2 G T 5: 98,152,802 (GRCm39) probably benign Het
Cadps2 A G 6: 23,321,699 (GRCm39) probably benign Het
Cdhr4 C T 9: 107,873,060 (GRCm39) probably benign Het
Cdkn2c C T 4: 109,518,823 (GRCm39) V44I probably damaging Het
Chodl T C 16: 78,738,151 (GRCm39) Y40H probably damaging Het
Heatr3 A G 8: 88,888,521 (GRCm39) D391G probably benign Het
Hephl1 T C 9: 15,000,320 (GRCm39) T311A possibly damaging Het
Itpr1 G A 6: 108,358,294 (GRCm39) S620N probably benign Het
Kank1 T A 19: 25,401,680 (GRCm39) S1096T possibly damaging Het
Kank3 G A 17: 34,036,375 (GRCm39) G81E probably damaging Het
Krtap9-5 A G 11: 99,839,459 (GRCm39) I53M unknown Het
Limk2 G A 11: 3,305,475 (GRCm39) probably benign Het
Lrig2 G A 3: 104,371,484 (GRCm39) R382* probably null Het
Mamdc2 T A 19: 23,308,366 (GRCm39) D512V probably benign Het
Marchf1 A T 8: 66,871,529 (GRCm39) T353S possibly damaging Het
Mrc2 A G 11: 105,219,567 (GRCm39) D312G probably damaging Het
Myh9 C T 15: 77,665,678 (GRCm39) M627I probably benign Het
Nipa2 A T 7: 55,583,193 (GRCm39) I184N probably damaging Het
Npy1r A G 8: 67,157,428 (GRCm39) K246R probably benign Het
Pank4 C T 4: 155,056,922 (GRCm39) probably benign Het
Pcdh12 T A 18: 38,408,400 (GRCm39) E1035D probably damaging Het
Pias2 T A 18: 77,220,852 (GRCm39) D362E probably damaging Het
Pkd1l3 G T 8: 110,388,873 (GRCm39) V1872L possibly damaging Het
Ppef2 A G 5: 92,397,055 (GRCm39) S107P possibly damaging Het
Prl3c1 T C 13: 27,386,408 (GRCm39) V131A probably benign Het
Qsox2 A G 2: 26,099,697 (GRCm39) V609A probably benign Het
Rhebl1 C A 15: 98,776,379 (GRCm39) E139D probably benign Het
Ryr3 A G 2: 112,582,150 (GRCm39) S2848P probably damaging Het
Scd2 T A 19: 44,286,497 (GRCm39) I109N probably benign Het
Sim1 A G 10: 50,857,630 (GRCm39) H460R probably damaging Het
Slc35f3 C A 8: 127,025,553 (GRCm39) P10Q probably damaging Het
Slf1 T C 13: 77,249,031 (GRCm39) probably benign Het
Stk10 G T 11: 32,527,740 (GRCm39) V163L probably benign Het
Tssk6 A G 8: 70,355,462 (GRCm39) T169A probably benign Het
Usp28 T A 9: 48,921,550 (GRCm39) V256E probably damaging Het
Vmn2r77 A T 7: 86,460,872 (GRCm39) I733F probably damaging Het
Other mutations in Postn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Postn APN 3 54,281,149 (GRCm39) missense probably damaging 1.00
IGL00567:Postn APN 3 54,291,944 (GRCm39) missense probably benign
IGL00742:Postn APN 3 54,280,315 (GRCm39) missense possibly damaging 0.81
IGL00971:Postn APN 3 54,276,697 (GRCm39) missense possibly damaging 0.88
IGL01460:Postn APN 3 54,282,579 (GRCm39) unclassified probably benign
IGL01609:Postn APN 3 54,276,649 (GRCm39) missense probably damaging 0.99
IGL01878:Postn APN 3 54,290,901 (GRCm39) splice site probably null
IGL01885:Postn APN 3 54,283,455 (GRCm39) unclassified probably benign
IGL02040:Postn APN 3 54,270,110 (GRCm39) missense probably benign
IGL02431:Postn APN 3 54,282,517 (GRCm39) missense probably damaging 0.99
IGL02578:Postn APN 3 54,284,625 (GRCm39) missense possibly damaging 0.93
IGL02943:Postn APN 3 54,285,029 (GRCm39) critical splice donor site probably null
IGL03307:Postn APN 3 54,282,548 (GRCm39) missense probably benign 0.32
sticklike UTSW 3 54,279,527 (GRCm39) missense probably damaging 1.00
R0117:Postn UTSW 3 54,290,902 (GRCm39) splice site probably benign
R0270:Postn UTSW 3 54,291,971 (GRCm39) missense probably damaging 0.98
R0410:Postn UTSW 3 54,292,698 (GRCm39) missense possibly damaging 0.93
R0548:Postn UTSW 3 54,274,997 (GRCm39) nonsense probably null
R0734:Postn UTSW 3 54,270,136 (GRCm39) missense probably damaging 1.00
R1648:Postn UTSW 3 54,283,522 (GRCm39) missense probably damaging 1.00
R1796:Postn UTSW 3 54,281,177 (GRCm39) missense probably damaging 1.00
R1823:Postn UTSW 3 54,292,708 (GRCm39) critical splice donor site probably null
R1938:Postn UTSW 3 54,285,033 (GRCm39) splice site probably null
R2311:Postn UTSW 3 54,292,644 (GRCm39) missense probably damaging 0.98
R2566:Postn UTSW 3 54,284,374 (GRCm39) missense probably damaging 0.97
R2938:Postn UTSW 3 54,277,731 (GRCm39) missense probably damaging 1.00
R4105:Postn UTSW 3 54,283,462 (GRCm39) missense probably damaging 1.00
R4394:Postn UTSW 3 54,278,376 (GRCm39) missense probably damaging 1.00
R4620:Postn UTSW 3 54,284,414 (GRCm39) missense probably damaging 1.00
R4628:Postn UTSW 3 54,279,578 (GRCm39) missense probably damaging 1.00
R4697:Postn UTSW 3 54,282,492 (GRCm39) missense probably damaging 1.00
R4709:Postn UTSW 3 54,292,031 (GRCm39) intron probably benign
R4952:Postn UTSW 3 54,297,736 (GRCm39) utr 3 prime probably benign
R5303:Postn UTSW 3 54,285,018 (GRCm39) missense probably damaging 1.00
R5704:Postn UTSW 3 54,279,527 (GRCm39) missense probably damaging 1.00
R5902:Postn UTSW 3 54,279,510 (GRCm39) missense probably benign 0.03
R5914:Postn UTSW 3 54,281,221 (GRCm39) nonsense probably null
R6032:Postn UTSW 3 54,284,137 (GRCm39) missense possibly damaging 0.53
R6032:Postn UTSW 3 54,284,137 (GRCm39) missense possibly damaging 0.53
R6101:Postn UTSW 3 54,279,641 (GRCm39) splice site probably null
R6105:Postn UTSW 3 54,279,641 (GRCm39) splice site probably null
R6334:Postn UTSW 3 54,292,703 (GRCm39) missense probably benign
R7131:Postn UTSW 3 54,270,056 (GRCm39) missense probably damaging 1.00
R7322:Postn UTSW 3 54,277,701 (GRCm39) missense probably damaging 1.00
R7430:Postn UTSW 3 54,277,623 (GRCm39) missense probably damaging 1.00
R7497:Postn UTSW 3 54,270,091 (GRCm39) missense probably damaging 1.00
R8245:Postn UTSW 3 54,283,468 (GRCm39) missense probably null 0.99
R8350:Postn UTSW 3 54,277,679 (GRCm39) missense probably damaging 1.00
R8748:Postn UTSW 3 54,296,760 (GRCm39) missense probably damaging 0.97
R9221:Postn UTSW 3 54,282,515 (GRCm39) missense possibly damaging 0.79
R9301:Postn UTSW 3 54,292,659 (GRCm39) missense probably benign 0.26
R9313:Postn UTSW 3 54,273,336 (GRCm39) missense probably damaging 0.99
R9657:Postn UTSW 3 54,290,820 (GRCm39) missense probably benign 0.04
RF018:Postn UTSW 3 54,291,913 (GRCm39) missense probably damaging 0.96
X0004:Postn UTSW 3 54,270,115 (GRCm39) missense probably damaging 1.00
X0022:Postn UTSW 3 54,278,261 (GRCm39) missense probably benign 0.03
Z1088:Postn UTSW 3 54,282,548 (GRCm39) missense probably benign 0.32
Posted On 2013-06-21