Incidental Mutation 'IGL02604:Ptn'
ID 300166
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # IGL02604
Quality Score
Status
Chromosome 6
Chromosomal Location 36691863-36787114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36692653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 166 (M166V)
Ref Sequence ENSEMBL: ENSMUSP00000099073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101534]
AlphaFold P63089
Predicted Effect unknown
Transcript: ENSMUST00000101534
AA Change: M166V
SMART Domains Protein: ENSMUSP00000099073
Gene: ENSMUSG00000029838
AA Change: M166V

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arfgef1 G A 1: 10,251,275 (GRCm39) probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Calb2 A C 8: 110,875,160 (GRCm39) Y155D probably damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Pon1 C A 6: 5,168,375 (GRCm39) G344V probably damaging Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Psmc2 T A 5: 22,000,098 (GRCm39) probably null Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Slc25a40 T C 5: 8,503,219 (GRCm39) V312A probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E probably benign 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
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
R3915:Ptn UTSW 6 36,720,282 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16