Incidental Mutation 'IGL02431:Postn'
ID 293127
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 # IGL02431
Quality Score
Status
Chromosome 3
Chromosomal Location 54268530-54298458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 54282517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 493 (I493F)
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: I493F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: I493F

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: I493F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: I493F

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: I493F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: I493F

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: I493F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: I493F

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 benign
Transcript: ENSMUST00000143258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145036
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T A 17: 24,517,958 (GRCm39) I784L probably benign Het
Abcc1 T A 16: 14,237,598 (GRCm39) V473E probably damaging Het
Agap3 A G 5: 24,706,010 (GRCm39) E758G probably damaging Het
C6 A T 15: 4,789,343 (GRCm39) K263* probably null Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap20dc T C 14: 8,659,424 (GRCm38) N57S probably damaging Het
Col4a3 C T 1: 82,657,344 (GRCm39) Q815* probably null Het
Dcaf10 A G 4: 45,342,630 (GRCm39) M155V probably benign Het
Fam228b T C 12: 4,812,370 (GRCm39) Y136C probably damaging Het
Fryl A T 5: 73,255,651 (GRCm39) H793Q probably benign Het
Gm10134 T C 2: 28,396,429 (GRCm39) probably benign Het
Gm6505 T C 3: 28,819,169 (GRCm39) noncoding transcript Het
Il31ra A G 13: 112,666,830 (GRCm39) F416S probably damaging Het
Lipc A G 9: 70,841,750 (GRCm39) probably benign Het
Lrp4 A G 2: 91,306,982 (GRCm39) K368E possibly damaging Het
Lrriq1 A T 10: 103,036,500 (GRCm39) N884K probably damaging Het
Mrgprx1 T C 7: 47,670,875 (GRCm39) R291G probably benign Het
Myo15a T A 11: 60,401,465 (GRCm39) V3057E possibly damaging Het
Or11g1 T A 14: 50,651,226 (GRCm39) I75N probably damaging Het
Or14j8 T A 17: 38,263,413 (GRCm39) R167S probably benign Het
Ptpn22 C A 3: 103,810,713 (GRCm39) F713L probably benign Het
Pygm T C 19: 6,438,148 (GRCm39) V239A probably damaging Het
Rangrf C A 11: 68,863,565 (GRCm39) C147F probably benign Het
Rnf112 C T 11: 61,341,205 (GRCm39) R460H probably benign Het
Sh3d19 A G 3: 86,014,305 (GRCm39) E423G probably damaging Het
Tasor2 A G 13: 3,624,736 (GRCm39) V1738A possibly damaging Het
Tipin A G 9: 64,208,467 (GRCm39) K204E probably benign Het
Traf3ip1 A T 1: 91,427,357 (GRCm39) Q109L unknown Het
Ttc21b A T 2: 66,082,229 (GRCm39) probably benign Het
Ttn C A 2: 76,804,460 (GRCm39) A271S probably benign Het
Vegfb C A 19: 6,963,386 (GRCm39) probably null Het
Vmn1r15 T A 6: 57,235,888 (GRCm39) L252H possibly damaging Het
Wipi1 A T 11: 109,494,617 (GRCm39) V72D probably damaging Het
Zmym1 G A 4: 126,941,557 (GRCm39) Q944* probably null 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
IGL01105:Postn APN 3 54,270,131 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16