Incidental Mutation 'IGL01865:Ptpn6'
ID178471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn6
Ensembl Gene ENSMUSG00000004266
Gene Nameprotein tyrosine phosphatase, non-receptor type 6
SynonymsHcph, hcp, SHP-1, Ptp1C
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.601) question?
Stock #IGL01865
Quality Score
Status
Chromosome6
Chromosomal Location124720707-124738714 bp(-) (GRCm38)
Type of Mutationmissense (12 bp from exon)
DNA Base Change (assembly) A to T at 124732465 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 54 (I54N)
Ref Sequence ENSEMBL: ENSMUSP00000133991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000173647] [ENSMUST00000174265]
Predicted Effect probably damaging
Transcript: ENSMUST00000004377
AA Change: I56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: I56N

DomainStartEndE-ValueType
SH2 4 87 1.43e-28 SMART
SH2 110 202 1.45e-29 SMART
PTPc 245 519 7.51e-131 SMART
low complexity region 571 581 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112484
AA Change: I54N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: I54N

DomainStartEndE-ValueType
SH2 2 85 4.05e-28 SMART
SH2 108 200 1.45e-29 SMART
PTPc 243 517 7.51e-131 SMART
low complexity region 569 579 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171549
AA Change: I56N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: I56N

DomainStartEndE-ValueType
SH2 4 87 1.43e-28 SMART
SH2 110 202 1.45e-29 SMART
PTPc 245 519 7.51e-131 SMART
low complexity region 571 581 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173228
Predicted Effect probably benign
Transcript: ENSMUST00000173647
SMART Domains Protein: ENSMUSP00000133747
Gene: ENSMUSG00000004266

DomainStartEndE-ValueType
SH2 2 64 2.35e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174265
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: I15N

DomainStartEndE-ValueType
Pfam:SH2 1 40 3.5e-6 PFAM
SH2 69 161 1.45e-29 SMART
PTPc 204 478 7.51e-131 SMART
low complexity region 530 540 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174861
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 member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants are immunodeficient and autoimmune and exhibit neutrophilic skin lesions that disrupt hair follicles and give the motheaten appearance. Alleles vary in severity, with death occurring at 6-9 weeks postnatally due to severe pneumonitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik T C 7: 128,236,935 H162R probably damaging Het
Adamts10 T A 17: 33,553,166 M1096K probably damaging Het
Asap3 G T 4: 136,236,404 C325F probably damaging Het
Atm T C 9: 53,461,002 E2160G probably damaging Het
Col4a1 G A 8: 11,201,790 A1599V probably benign Het
Ctdp1 C T 18: 80,455,984 G248S probably damaging Het
Dcaf5 A T 12: 80,339,314 D679E probably benign Het
Efcab2 C A 1: 178,475,688 Y91* probably null Het
Eif3d G T 15: 77,967,346 T88K probably benign Het
Gapvd1 G A 2: 34,695,503 A1049V probably null Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm18856 T A 13: 13,964,923 D274V probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm9991 A G 1: 90,678,913 noncoding transcript Het
Hapln1 T C 13: 89,601,665 Y110H probably damaging Het
Htr1f A G 16: 64,925,919 Y337H probably damaging Het
Kirrel T A 3: 87,086,424 S509C probably damaging Het
Limch1 A T 5: 66,974,580 R285* probably null Het
Lypla1 A C 1: 4,837,036 I108L probably damaging Het
Mc3r A G 2: 172,249,055 N66D probably damaging Het
Melk T A 4: 44,344,988 C373S probably benign Het
Myocd C A 11: 65,200,897 S73I probably benign Het
Nell2 A G 15: 95,385,081 V360A possibly damaging Het
Npas4 G A 19: 4,985,791 Q782* probably null Het
Olfr1352 A T 10: 78,984,678 D296V possibly damaging Het
Pdzd8 T C 19: 59,299,645 K1108E possibly damaging Het
Per2 A G 1: 91,421,517 I1044T probably benign Het
Pgm3 A G 9: 86,555,318 F501S possibly damaging Het
Ppp1r3c A G 19: 36,734,178 V64A probably benign Het
Pxk T C 14: 8,136,923 V148A possibly damaging Het
Rngtt T A 4: 33,325,157 probably benign Het
Rtkn2 T G 10: 68,035,875 S364R probably benign Het
Rtn1 A C 12: 72,219,300 L167R probably damaging Het
Sp2 G A 11: 96,961,042 T352I probably damaging Het
Tbc1d17 A G 7: 44,842,689 M459T possibly damaging Het
Tbcd T A 11: 121,590,380 M694K possibly damaging Het
Tln2 G A 9: 67,250,614 R2236* probably null Het
Trim27 T C 13: 21,192,492 V294A probably damaging Het
Tspyl5 G T 15: 33,687,712 A29E unknown Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vrk2 C T 11: 26,535,560 V143I possibly damaging Het
Zfp952 G A 17: 33,002,817 R52Q probably benign Het
Zfp979 A T 4: 147,615,317 D55E probably benign Het
Other mutations in Ptpn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Ptpn6 APN 6 124732356 unclassified probably null
IGL01490:Ptpn6 APN 6 124728344 missense probably damaging 1.00
IGL02017:Ptpn6 APN 6 124732486 missense probably damaging 0.98
IGL02272:Ptpn6 APN 6 124721208 missense probably damaging 0.99
IGL02276:Ptpn6 APN 6 124728865 missense probably null 1.00
IGL02556:Ptpn6 APN 6 124728660 missense probably benign 0.00
candle UTSW 6 124728419 missense probably damaging 1.00
farfalla_notturna UTSW 6 124732435 missense probably damaging 1.00
spin UTSW 6 124728559 missense probably damaging 0.99
spin2 UTSW 6 124732369 missense probably damaging 1.00
Vermeil UTSW 6 124732950 missense probably benign 0.10
R0183:Ptpn6 UTSW 6 124728951 missense probably damaging 1.00
R0254:Ptpn6 UTSW 6 124728150 missense probably damaging 1.00
R0636:Ptpn6 UTSW 6 124725279 missense probably benign
R0835:Ptpn6 UTSW 6 124727536 critical splice acceptor site probably null
R1383:Ptpn6 UTSW 6 124721893 missense probably damaging 1.00
R1638:Ptpn6 UTSW 6 124721185 missense probably benign
R1900:Ptpn6 UTSW 6 124728933 missense probably benign 0.15
R2047:Ptpn6 UTSW 6 124721789 missense probably benign 0.42
R2143:Ptpn6 UTSW 6 124724984 missense probably benign 0.01
R3907:Ptpn6 UTSW 6 124725276 missense possibly damaging 0.86
R4082:Ptpn6 UTSW 6 124728419 missense probably damaging 1.00
R4382:Ptpn6 UTSW 6 124727398 missense possibly damaging 0.86
R5319:Ptpn6 UTSW 6 124732950 missense probably benign 0.10
R5807:Ptpn6 UTSW 6 124724984 missense probably benign
R5878:Ptpn6 UTSW 6 124728785 missense probably damaging 1.00
R6056:Ptpn6 UTSW 6 124732435 missense probably damaging 1.00
Posted OnMay 07, 2014