Incidental Mutation 'IGL01485:Ptn'
ID88731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptn
Ensembl Gene ENSMUSG00000029838
Gene Namepleiotrophin
SynonymsHBGF-8, HB-GAM, Osf1, HBNF, Osf-1, heparin-binding growth factor 8, heparin-binding growth-associated molecule
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock #IGL01485
Quality Score
Status
Chromosome6
Chromosomal Location36714929-36810220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 36743363 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 85 (C85S)
Ref Sequence ENSEMBL: ENSMUSP00000144184 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101534] [ENSMUST00000201321]
Predicted Effect probably damaging
Transcript: ENSMUST00000101534
AA Change: C85S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099073
Gene: ENSMUSG00000029838
AA Change: C85S

DomainStartEndE-ValueType
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: C85S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144184
Gene: ENSMUSG00000029838
AA Change: C85S

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 34 44 N/A INTRINSIC
PTN 47 131 6.62e-51 SMART
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,950,022 L888F probably damaging Het
Aftph G T 11: 20,692,507 A842E probably damaging Het
Ankrd13d A T 19: 4,273,564 M257K probably benign Het
Anks1 T C 17: 28,051,584 F786L probably damaging Het
Cd2ap A T 17: 42,852,474 I20N probably damaging Het
Cdh20 C T 1: 104,934,107 T4M probably benign Het
Dnah5 C T 15: 28,331,726 R2153C probably damaging Het
Fap G A 2: 62,544,311 P248L possibly damaging Het
Gm853 T A 4: 130,215,425 Y274F probably benign Het
Hps4 T A 5: 112,364,511 probably benign Het
Igdcc4 C A 9: 65,122,607 T313K probably benign Het
Klhl30 G A 1: 91,354,039 V121I probably damaging Het
Ldb3 C A 14: 34,542,562 E526D probably damaging Het
Lhfpl4 T A 6: 113,194,121 I35F probably benign Het
Lpin1 A G 12: 16,562,357 probably benign Het
Nek1 T A 8: 61,049,826 C436S probably benign Het
Nek5 C A 8: 22,083,369 A524S probably benign Het
Nkx2-3 C T 19: 43,612,655 T52M possibly damaging Het
Olfr1364 A T 13: 21,574,457 probably null Het
Olfr393 A G 11: 73,847,210 I305T probably benign Het
Olfr923 G A 9: 38,828,599 V303I possibly damaging Het
Pappa T C 4: 65,189,299 V649A probably damaging Het
Parp4 T A 14: 56,622,204 Y920N possibly damaging Het
Pdgfra G A 5: 75,163,652 S56N probably benign Het
Pigg T C 5: 108,336,201 V438A possibly damaging Het
Sh3rf1 A C 8: 61,329,331 E169A possibly damaging Het
Slc30a10 T A 1: 185,455,419 V119E probably damaging Het
Speg A G 1: 75,387,827 E178G probably damaging Het
Sspo A G 6: 48,478,731 Y3105C probably damaging Het
Supt3 A G 17: 45,119,158 E366G possibly damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Ttc21b G A 2: 66,251,890 probably benign Het
Usp24 T C 4: 106,362,232 F542L probably benign Het
Vmn1r234 T A 17: 21,228,909 D28E possibly damaging Het
Other mutations in Ptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ptn APN 6 36743489 missense probably benign 0.43
IGL02604:Ptn APN 6 36715718 missense unknown
PIT4366001:Ptn UTSW 6 36741349 missense probably benign 0.24
R0440:Ptn UTSW 6 36744497 missense probably benign 0.19
R0504:Ptn UTSW 6 36741453 splice site probably benign
R3915:Ptn UTSW 6 36743347 missense probably damaging 0.99
R5262:Ptn UTSW 6 36744484 missense probably benign 0.00
Posted On2013-11-18