Incidental Mutation 'R3915:Ptn'
ID 309590
Institutional Source Beutler Lab
Gene Symbol Ptn
Ensembl Gene ENSMUSG00000029838
Gene Name pleiotrophin
Synonyms Osf1, heparin-binding growth-associated molecule, HB-GAM, heparin-binding growth factor 8, HBNF, Osf-1, HBGF-8
MMRRC Submission 040913-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R3915 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 36691863-36787114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36720282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 90 (N90S)
Ref Sequence ENSEMBL: ENSMUSP00000099073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101534] [ENSMUST00000201321]
AlphaFold P63089
Predicted Effect probably damaging
Transcript: ENSMUST00000101534
AA Change: N90S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099073
Gene: ENSMUSG00000029838
AA Change: N90S

signal peptide 1 32 N/A INTRINSIC
low complexity region 34 44 N/A INTRINSIC
PTN 47 131 6.62e-51 SMART
low complexity region 146 165 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201321
AA Change: N90S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144184
Gene: ENSMUSG00000029838
AA Change: N90S

signal peptide 1 32 N/A INTRINSIC
low complexity region 34 44 N/A INTRINSIC
PTN 47 131 6.62e-51 SMART
Meta Mutation Damage Score 0.4438 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (43/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted heparin-binding growth factor. The protein has significant roles in cell growth and survival, cell migration, angiogenesis and tumorigenesis. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygous null mice exhibit enhanced long term potentiation, an impairment of spatial learning, and increased anxiety. The brains of mutant mice are morphologically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik G A 5: 3,627,248 (GRCm39) V75I possibly damaging Het
AA986860 A G 1: 130,670,344 (GRCm39) K189E probably benign Het
Abcf1 C T 17: 36,270,402 (GRCm39) R596H possibly damaging Het
Abtb3 C A 10: 85,468,134 (GRCm39) H810N probably damaging Het
Axl T C 7: 25,460,169 (GRCm39) probably benign Het
Birc6 A G 17: 74,886,603 (GRCm39) K644E probably benign Het
Btnl7-ps T A 17: 34,760,489 (GRCm39) noncoding transcript Het
Car8 A T 4: 8,184,576 (GRCm39) probably benign Het
Ccdc62 C T 5: 124,092,778 (GRCm39) R588C probably damaging Het
Clasp2 T G 9: 113,737,805 (GRCm39) S374A probably damaging Het
Ctnnb1 A G 9: 120,784,717 (GRCm39) H503R probably benign Het
Cwf19l2 A G 9: 3,456,776 (GRCm39) H703R probably damaging Het
Efcab7 A T 4: 99,735,375 (GRCm39) Q133L probably damaging Het
Ehmt2 T C 17: 35,122,443 (GRCm39) S280P probably damaging Het
Eif4a3l1 A T 6: 136,306,420 (GRCm39) T294S probably benign Het
Eomes A G 9: 118,310,341 (GRCm39) M351V probably benign Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Fam222b C G 11: 78,045,756 (GRCm39) P439R probably benign Het
Gbp11 T A 5: 105,478,978 (GRCm39) K153N probably damaging Het
Golim4 T C 3: 75,810,634 (GRCm39) T174A probably damaging Het
Grid1 A G 14: 35,242,684 (GRCm39) Y679C probably damaging Het
Gvin-ps5 A G 7: 105,929,445 (GRCm39) S151P probably benign Het
Ikzf3 T C 11: 98,381,412 (GRCm39) D56G probably damaging Het
Kcnj16 A G 11: 110,916,382 (GRCm39) D348G probably benign Het
Kidins220 T C 12: 25,103,957 (GRCm39) L1319P possibly damaging Het
Lrp1b T A 2: 41,339,248 (GRCm39) D751V probably damaging Het
Macc1 T C 12: 119,410,551 (GRCm39) C440R probably benign Het
Mbd2 T C 18: 70,755,680 (GRCm39) V382A probably benign Het
Or13a17 T A 7: 140,270,888 (GRCm39) D23E probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or6c68 G A 10: 129,158,178 (GRCm39) A229T probably benign Het
Pgs1 T G 11: 117,910,472 (GRCm39) S528A probably benign Het
Pitpnm3 T C 11: 72,003,110 (GRCm39) T67A probably damaging Het
Pnliprp2 T G 19: 58,748,794 (GRCm39) V33G probably damaging Het
Ptprt A T 2: 161,397,475 (GRCm39) probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrp1 G A 2: 117,119,122 (GRCm39) S505F probably damaging Het
Sesn1 G A 10: 41,770,886 (GRCm39) R139H probably benign Het
Slc17a7 T A 7: 44,818,144 (GRCm39) L23Q probably damaging Het
Slc30a10 G T 1: 185,187,333 (GRCm39) E25* probably null Het
Smco1 A G 16: 32,092,583 (GRCm39) I85V probably benign Het
Vmn1r76 A T 7: 11,664,496 (GRCm39) S239R probably benign Het
Zc3h7a A T 16: 10,974,074 (GRCm39) V237D possibly damaging Het
Other mutations in Ptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ptn APN 6 36,720,424 (GRCm39) missense probably benign 0.43
IGL01485:Ptn APN 6 36,720,298 (GRCm39) missense probably damaging 1.00
IGL02604:Ptn APN 6 36,692,653 (GRCm39) missense unknown
PIT4366001:Ptn UTSW 6 36,718,284 (GRCm39) missense probably benign 0.24
R0440:Ptn UTSW 6 36,721,432 (GRCm39) missense probably benign 0.19
R0504:Ptn UTSW 6 36,718,388 (GRCm39) splice site probably benign
R5262:Ptn UTSW 6 36,721,419 (GRCm39) missense probably benign 0.00
R8913:Ptn UTSW 6 36,718,276 (GRCm39) missense probably benign 0.07
R9746:Ptn UTSW 6 36,692,699 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17