Incidental Mutation 'R7497:Postn'
ID 581114
Institutional Source Beutler Lab
Gene Symbol Postn
Ensembl Gene ENSMUSG00000027750
Gene Name periostin, osteoblast specific factor
Synonyms A630052E07Rik, peri, Periostin, Osf2, OSF-2
MMRRC Submission 045570-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7497 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 54268530-54298458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 54270091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 57 (K57E)
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: K57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000072773
Gene: ENSMUSG00000027750
AA Change: K57E

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: K57E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080276
Gene: ENSMUSG00000027750
AA Change: K57E

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: K57E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103619
Gene: ENSMUSG00000027750
AA Change: K57E

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: K57E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112735
Gene: ENSMUSG00000027750
AA Change: K57E

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
Meta Mutation Damage Score 0.3291 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (70/70)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T A 15: 91,075,379 (GRCm39) I145F probably benign Het
Acvr2b T A 9: 119,262,352 (GRCm39) V455E probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Agap2 T C 10: 126,926,834 (GRCm39) V977A probably damaging Het
Aph1b A C 9: 66,701,401 (GRCm39) S79A probably damaging Het
Atm G A 9: 53,423,191 (GRCm39) S645L probably benign Het
Cdh11 T C 8: 103,400,456 (GRCm39) R171G probably benign Het
Ces2f T A 8: 105,681,330 (GRCm39) D556E probably benign Het
Cfap210 A C 2: 69,588,792 (GRCm39) N439K probably benign Het
Cyp26b1 C A 6: 84,553,964 (GRCm39) V218L possibly damaging Het
Diaph1 T C 18: 38,028,353 (GRCm39) probably null Het
Dock1 A G 7: 134,367,003 (GRCm39) I482V probably benign Het
Dok4 A T 8: 95,594,053 (GRCm39) D47E possibly damaging Het
Dqx1 T A 6: 83,036,028 (GRCm39) L120Q probably damaging Het
Duxf3 A T 10: 58,066,558 (GRCm39) V157E probably damaging Het
Efcab3 T C 11: 104,653,516 (GRCm39) probably null Het
Eif2a C A 3: 58,456,102 (GRCm39) P367Q probably damaging Het
Elp2 C T 18: 24,744,985 (GRCm39) R102C probably damaging Het
Erich2 T C 2: 70,364,666 (GRCm39) S347P probably damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Flacc1 T A 1: 58,717,467 (GRCm39) D148V probably damaging Het
Gadl1 A T 9: 115,903,155 (GRCm39) I495L probably benign Het
Gcnt4 A G 13: 97,083,468 (GRCm39) T255A possibly damaging Het
Gm10972 A G 3: 94,550,887 (GRCm39) K21E unknown Het
Gm57859 T A 11: 113,583,223 (GRCm39) W517R probably damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Gp2 C T 7: 119,053,829 (GRCm39) C44Y probably damaging Het
Hcar2 C T 5: 124,003,249 (GRCm39) V85I probably benign Het
Hira T C 16: 18,770,829 (GRCm39) V822A probably damaging Het
Ighv1-5 T A 12: 114,477,156 (GRCm39) T49S probably damaging Het
Ints1 C T 5: 139,754,731 (GRCm39) V603M probably damaging Het
Kdm2a A C 19: 4,374,404 (GRCm39) L909R probably damaging Het
Klkb1 T A 8: 45,747,827 (GRCm39) probably benign Het
Krit1 A G 5: 3,862,349 (GRCm39) H168R possibly damaging Het
Map3k21 A T 8: 126,654,340 (GRCm39) E386D probably damaging Het
Muc16 C T 9: 18,556,385 (GRCm39) E3303K unknown Het
Muc5b T G 7: 141,415,250 (GRCm39) V2732G possibly damaging Het
Myo5a T C 9: 75,104,983 (GRCm39) L189P Het
Nlrc5 T C 8: 95,248,598 (GRCm39) L1740S probably damaging Het
Nolc1 A G 19: 46,071,257 (GRCm39) K402R probably benign Het
Or4b1b T A 2: 90,112,098 (GRCm39) T274S possibly damaging Het
Or4k15 T A 14: 50,364,952 (GRCm39) L306Q probably benign Het
Or52s19 T C 7: 103,008,219 (GRCm39) M61V probably damaging Het
Or8u8 T C 2: 86,012,417 (GRCm39) I13V probably benign Het
Pnma8b A G 7: 16,678,874 (GRCm39) probably benign Het
Pnpt1 A T 11: 29,080,860 (GRCm39) M35L probably benign Het
Ppp1r9a A C 6: 4,905,775 (GRCm39) D110A probably damaging Het
Pptc7 G A 5: 122,422,942 (GRCm39) V71M possibly damaging Het
Prdm11 T A 2: 92,843,052 (GRCm39) I136F possibly damaging Het
Rfc1 A G 5: 65,436,841 (GRCm39) L613P probably damaging Het
Ryr3 T C 2: 112,560,818 (GRCm39) D2981G probably benign Het
Sbf2 C A 7: 110,213,923 (GRCm39) E16* probably null Het
Scara3 T C 14: 66,168,651 (GRCm39) E322G probably damaging Het
Sema5b T A 16: 35,481,700 (GRCm39) C893S probably damaging Het
Setdb1 T C 3: 95,249,139 (GRCm39) D323G probably damaging Het
Slc19a3 T C 1: 82,991,649 (GRCm39) Y453C probably damaging Het
Snx5 T C 2: 144,099,894 (GRCm39) K137E probably damaging Het
Taar8c G A 10: 23,977,116 (GRCm39) T232I probably benign Het
Taok2 G A 7: 126,474,050 (GRCm39) T352I probably damaging Het
Ttc3 C A 16: 94,219,541 (GRCm39) R489S possibly damaging Het
Usp12 A T 5: 146,689,264 (GRCm39) probably null Het
Usp16 T A 16: 87,263,174 (GRCm39) C125* probably null Het
Vmn2r106 C T 17: 20,488,201 (GRCm39) E733K probably damaging Het
Vps13b T A 15: 35,876,843 (GRCm39) I2832K probably benign Het
Vps13c A G 9: 67,747,761 (GRCm39) Y18C probably damaging Het
Zfp160 T A 17: 21,246,455 (GRCm39) I335K probably benign Het
Zfp788 A T 7: 41,298,275 (GRCm39) I304F possibly 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
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
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
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
Predicted Primers PCR Primer
(F):5'- CAGCAGCTCAATAGAACTGGGAC -3'
(R):5'- TTGAGAGGGAGCTTCTCTGC -3'

Sequencing Primer
(F):5'- TGGGACAGGAGTTAGCTTTATAC -3'
(R):5'- CTGTGCATGTGCCTTGCTTTAAAAAC -3'
Posted On 2019-10-17