Incidental Mutation 'IGL00163:Ptn'
ID1589
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: 0.209) question?
Stock #IGL00163
Quality Score
Status
Chromosome6
Chromosomal Location36714929-36810220 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36743489 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 43 (K43E)
Ref Sequence ENSEMBL: ENSMUSP00000099073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101534] [ENSMUST00000201321]
Predicted Effect probably benign
Transcript: ENSMUST00000101534
AA Change: K43E

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099073
Gene: ENSMUSG00000029838
AA Change: K43E

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 benign
Transcript: ENSMUST00000201321
AA Change: K43E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144184
Gene: ENSMUSG00000029838
AA Change: K43E

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik G A 4: 88,868,073 Q103* probably null Het
4933406P04Rik C A 10: 20,311,224 probably benign Het
Adgrg6 T C 10: 14,467,450 E251G probably damaging Het
AF529169 A T 9: 89,591,097 probably benign Het
Ago2 T C 15: 73,126,453 H292R probably benign Het
Akr1c6 T C 13: 4,448,978 probably benign Het
Arhgap24 T A 5: 102,860,399 M62K possibly damaging Het
Bicd1 A G 6: 149,550,390 H834R possibly damaging Het
Ccdc77 G T 6: 120,329,084 probably benign Het
Cdadc1 G T 14: 59,581,369 H337N probably damaging Het
Cep192 A G 18: 67,880,800 T2424A possibly damaging Het
Cep78 T C 19: 15,969,140 T443A probably benign Het
Chrna1 T A 2: 73,570,642 E181D probably benign Het
Dmxl1 G A 18: 49,851,467 D177N probably damaging Het
Eif3h T A 15: 51,786,799 I330F probably damaging Het
Fam184b T C 5: 45,539,749 E691G probably benign Het
Fastkd1 T A 2: 69,707,549 S230C probably benign Het
Gipc2 T C 3: 152,137,578 I141V probably damaging Het
Hsd17b2 A T 8: 117,758,671 D291V probably damaging Het
Itpr2 G A 6: 146,390,836 A420V possibly damaging Het
Jag1 C T 2: 137,086,032 probably null Het
Mmp1b T A 9: 7,387,946 Y16F probably benign Het
Muc4 G T 16: 32,754,090 R1322M probably benign Het
Myo9b T C 8: 71,348,735 I1179T probably benign Het
Nos1ap A G 1: 170,514,606 probably benign Het
Npc1l1 A T 11: 6,224,199 V702E probably damaging Het
Olfr1183 A T 2: 88,461,352 Y4F probably benign Het
Olfr1303 A C 2: 111,813,781 probably benign Het
Olfr1380 A C 11: 49,563,920 probably benign Het
Olfr270 G A 4: 52,971,058 V146M possibly damaging Het
Olfr50 A G 2: 36,794,000 I255V probably benign Het
Olfr699 T A 7: 106,790,589 R137S probably benign Het
Osmr A T 15: 6,844,445 L157* probably null Het
Pdzph1 T C 17: 58,974,796 T164A possibly damaging Het
Rbm45 T C 2: 76,378,707 V340A probably damaging Het
Rnf5 C T 17: 34,602,109 G83E probably damaging Het
Scin G T 12: 40,076,972 Q459K probably benign Het
Serpina5 C A 12: 104,105,220 A362D probably damaging Het
Tcrg-V3 G A 13: 19,243,211 S88N probably benign Het
Tex47 T A 5: 7,305,468 Y216* probably null Het
Tll1 A T 8: 64,016,136 H984Q probably benign Het
Tmem259 A G 10: 79,979,734 V81A probably benign Het
Tns3 A T 11: 8,451,066 S1077R probably benign Het
Ttc17 A G 2: 94,323,083 probably benign Het
Tubgcp2 T C 7: 140,031,022 T149A possibly damaging Het
Ulk1 G A 5: 110,787,872 A25V probably damaging Het
Vps13d T C 4: 145,168,540 E378G probably damaging Het
Vsig10 A G 5: 117,338,414 N311S probably benign Het
Zfp511 T C 7: 140,037,516 Y144H possibly damaging Het
Other mutations in Ptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01485:Ptn APN 6 36743363 missense probably damaging 1.00
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 On2011-07-12