Incidental Mutation 'IGL00971:Postn'
ID27154
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 #IGL00971
Quality Score
Status
Chromosome3
Chromosomal Location54361109-54391037 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 54369276 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 192 (N192S)
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: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: N192S

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: N192S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: N192S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik C T 14: 35,810,213 C135Y possibly damaging Het
Afdn T A 17: 13,852,313 probably benign Het
Akap10 A G 11: 61,904,796 V347A possibly damaging Het
Ankrd11 A G 8: 122,895,353 S587P probably damaging Het
Ces1g T C 8: 93,303,032 Y524C probably damaging Het
Cubn T C 2: 13,278,408 N3573S possibly damaging Het
Cyp1a1 G T 9: 57,700,707 C206F probably damaging Het
Fam166b A G 4: 43,428,377 L51P probably damaging Het
Fbxo30 T C 10: 11,290,298 Y255H probably benign Het
Ggnbp2 T C 11: 84,840,404 I295V possibly damaging Het
Gm8979 G A 7: 106,081,801 noncoding transcript Het
Gpatch8 A G 11: 102,479,917 Y932H unknown Het
Heatr6 C T 11: 83,759,309 P197L probably damaging Het
Helb T C 10: 120,094,263 D737G possibly damaging Het
Helz A T 11: 107,663,653 I1226F possibly damaging Het
Ipo11 A T 13: 106,856,769 I749N probably damaging Het
Ipo13 T C 4: 117,914,367 E2G possibly damaging Het
Jam3 A C 9: 27,101,892 D127E probably damaging Het
Kif16b G T 2: 142,711,744 Q1045K probably benign Het
Kin T C 2: 10,090,348 W121R possibly damaging Het
Man1b1 T G 2: 25,343,325 S237A possibly damaging Het
Mmel1 C T 4: 154,887,832 probably benign Het
Morn4 T C 19: 42,076,120 N143S possibly damaging Het
Nlrp4b A G 7: 10,714,955 T362A possibly damaging Het
Ntpcr C T 8: 125,747,762 T153M probably damaging Het
Olfr62 T A 4: 118,666,278 F254I probably damaging Het
Pdzd2 A G 15: 12,374,718 L1777P probably benign Het
Prkar1a A T 11: 109,661,051 Y122F probably benign Het
Serpinb7 A G 1: 107,428,246 probably benign Het
Setd3 A T 12: 108,160,237 I121N probably damaging Het
Slamf7 T A 1: 171,639,242 I132L probably benign Het
Syt4 T C 18: 31,447,174 probably benign Het
Tesc G A 5: 118,056,439 probably null Het
Tsc1 C A 2: 28,670,940 S270* probably null Het
Wap C A 11: 6,636,808 C97F probably damaging Het
Zfp451 A G 1: 33,783,153 S155P probably benign Het
Zfp469 A G 8: 122,269,733 probably benign Het
Zfp51 C T 17: 21,463,582 T153M probably benign Het
Zfp579 A G 7: 4,993,391 I507T 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
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
IGL02578:Postn APN 3 54377204 missense possibly damaging 0.93
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
R7497:Postn UTSW 3 54362670 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 On2013-04-17