Incidental Mutation 'IGL02578:Postn'
ID299272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Postn
Ensembl Gene ENSMUSG00000027750
Gene Nameperiostin, osteoblast specific factor
Synonymsperi, A630052E07Rik, OSF-2, Osf2, Periostin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02578
Quality Score
Status
Chromosome3
Chromosomal Location54361109-54391037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 54377204 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 647 (N647I)
Ref Sequence ENSEMBL: ENSMUSP00000112735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073012] [ENSMUST00000081564] [ENSMUST00000107985] [ENSMUST00000117373]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073012
AA Change: N647I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: N647I

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 possibly damaging
Transcript: ENSMUST00000081564
AA Change: N647I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: N647I

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 possibly damaging
Transcript: ENSMUST00000107985
AA Change: N647I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: N647I

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 possibly damaging
Transcript: ENSMUST00000117373
AA Change: N647I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: N647I

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,423,956 probably null Het
Ago1 T A 4: 126,439,531 D545V probably benign Het
Arid2 T C 15: 96,372,235 S1410P probably benign Het
Cbfa2t3 T A 8: 122,633,448 D488V possibly damaging Het
Cdx2 T C 5: 147,303,284 D194G probably damaging Het
Cyp4a32 A G 4: 115,609,742 Q208R possibly damaging Het
Degs1 A C 1: 182,279,027 Y222* probably null Het
Dnah7a T A 1: 53,432,915 E3564D probably benign Het
Dsg4 A T 18: 20,471,193 I906F possibly damaging Het
Elovl3 A G 19: 46,134,693 H236R possibly damaging Het
Fam159a C T 4: 108,368,028 M112I probably benign Het
Foxp2 A G 6: 15,376,815 probably benign Het
Gm9892 A T 8: 52,196,293 noncoding transcript Het
Herc2 A G 7: 56,106,535 probably null Het
Hhat A G 1: 192,693,913 V304A probably damaging Het
Il16 C T 7: 83,677,986 probably null Het
Kansl1l G A 1: 66,801,689 Q151* probably null Het
Kmt2c G T 5: 25,366,200 probably benign Het
Krt39 T C 11: 99,521,206 N18S probably benign Het
Lcor G T 19: 41,559,150 G391V probably damaging Het
Mical2 A T 7: 112,351,373 T845S probably benign Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Mphosph8 C T 14: 56,674,210 A230V probably benign Het
Myh2 T A 11: 67,186,691 M884K probably benign Het
Nlrp3 T C 11: 59,548,401 L268P probably damaging Het
Ntng1 T A 3: 110,135,394 T39S probably benign Het
Olfr1043 A T 2: 86,162,729 Y73* probably null Het
Olfr1124 T A 2: 87,435,057 I190K probably damaging Het
Olfr342 A C 2: 36,528,144 H244P probably damaging Het
Pde4b T A 4: 102,255,297 M26K possibly damaging Het
Polh G A 17: 46,194,292 Q133* probably null Het
Scimp T A 11: 70,791,561 I110F possibly damaging Het
Sell A G 1: 164,065,596 D127G probably damaging Het
Serpinb12 G A 1: 106,955,490 probably null Het
She A G 3: 89,832,066 E188G probably damaging Het
Slc22a1 T C 17: 12,667,239 Y169C probably damaging Het
Slco2a1 C T 9: 103,046,758 T57I probably damaging Het
Sox2 A T 3: 34,650,596 M61L probably benign Het
Sra1 G A 18: 36,670,097 Q32* probably null Het
Syne2 T A 12: 76,022,279 S4340T possibly damaging Het
Ucn A C 5: 31,138,394 W43G possibly damaging Het
Xdh C T 17: 73,906,246 M836I probably damaging Het
Xirp2 T A 2: 67,511,247 D1277E probably damaging Het
Other mutations in Postn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Postn APN 3 54373728 missense probably damaging 1.00
IGL00567:Postn APN 3 54384523 missense probably benign
IGL00742:Postn APN 3 54372894 missense possibly damaging 0.81
IGL00971:Postn APN 3 54369276 missense possibly damaging 0.88
IGL01105:Postn APN 3 54362710 missense probably damaging 1.00
IGL01460:Postn APN 3 54375158 unclassified probably benign
IGL01609:Postn APN 3 54369228 missense probably damaging 0.99
IGL01878:Postn APN 3 54383480 splice site probably null
IGL01885:Postn APN 3 54376034 unclassified probably benign
IGL02040:Postn APN 3 54362689 missense probably benign
IGL02431:Postn APN 3 54375096 missense probably damaging 0.99
IGL02943:Postn APN 3 54377608 critical splice donor site probably null
IGL03307:Postn APN 3 54375127 missense probably benign 0.32
sticklike UTSW 3 54372106 missense probably damaging 1.00
R0117:Postn UTSW 3 54383481 splice site probably benign
R0270:Postn UTSW 3 54384550 missense probably damaging 0.98
R0410:Postn UTSW 3 54385277 missense possibly damaging 0.93
R0548:Postn UTSW 3 54367576 nonsense probably null
R0734:Postn UTSW 3 54362715 missense probably damaging 1.00
R1648:Postn UTSW 3 54376101 missense probably damaging 1.00
R1796:Postn UTSW 3 54373756 missense probably damaging 1.00
R1823:Postn UTSW 3 54385287 critical splice donor site probably null
R1938:Postn UTSW 3 54377612 splice site probably null
R2311:Postn UTSW 3 54385223 missense probably damaging 0.98
R2566:Postn UTSW 3 54376953 missense probably damaging 0.97
R2938:Postn UTSW 3 54370310 missense probably damaging 1.00
R4105:Postn UTSW 3 54376041 missense probably damaging 1.00
R4394:Postn UTSW 3 54370955 missense probably damaging 1.00
R4620:Postn UTSW 3 54376993 missense probably damaging 1.00
R4628:Postn UTSW 3 54372157 missense probably damaging 1.00
R4697:Postn UTSW 3 54375071 missense probably damaging 1.00
R4709:Postn UTSW 3 54384610 intron probably benign
R4952:Postn UTSW 3 54390315 utr 3 prime probably benign
R5303:Postn UTSW 3 54377597 missense probably damaging 1.00
R5704:Postn UTSW 3 54372106 missense probably damaging 1.00
R5902:Postn UTSW 3 54372089 missense probably benign 0.03
R5914:Postn UTSW 3 54373800 nonsense probably null
R6032:Postn UTSW 3 54376716 missense possibly damaging 0.53
R6032:Postn UTSW 3 54376716 missense possibly damaging 0.53
R6101:Postn UTSW 3 54372220 splice site probably null
R6105:Postn UTSW 3 54372220 splice site probably null
R6334:Postn UTSW 3 54385282 missense probably benign
R7131:Postn UTSW 3 54362635 missense probably damaging 1.00
R7322:Postn UTSW 3 54370280 missense probably damaging 1.00
R7430:Postn UTSW 3 54370202 missense probably damaging 1.00
X0004:Postn UTSW 3 54362694 missense probably damaging 1.00
X0022:Postn UTSW 3 54370840 missense probably benign 0.03
Z1088:Postn UTSW 3 54375127 missense probably benign 0.32
Posted On2015-04-16