Incidental Mutation 'IGL02556:Ptpn6'
ID298509
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 #IGL02556
Quality Score
Status
Chromosome6
Chromosomal Location124720707-124738714 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 124728660 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 176 (G176E)
Ref Sequence ENSEMBL: ENSMUSP00000133991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000173647] [ENSMUST00000174265] [ENSMUST00000174787]
Predicted Effect probably benign
Transcript: ENSMUST00000004377
AA Change: G176E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: G176E

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 benign
Transcript: ENSMUST00000112484
AA Change: G174E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: G174E

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 benign
Transcript: ENSMUST00000171549
AA Change: G176E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: G176E

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 probably benign
Transcript: ENSMUST00000172690
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 benign
Transcript: ENSMUST00000174265
AA Change: G135E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: G135E

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 probably benign
Transcript: ENSMUST00000174787
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T G 10: 100,610,717 probably null Het
Ace A G 11: 105,972,527 D376G probably damaging Het
Adgrb1 C T 15: 74,586,805 T1252I probably damaging Het
Bhmt T C 13: 93,637,500 probably benign Het
Ckap5 T C 2: 91,594,841 probably benign Het
Clcn4 T C 7: 7,296,066 T37A probably benign Het
Cnmd C T 14: 79,661,960 V18I probably benign Het
Cryl1 C T 14: 57,276,021 V248M probably benign Het
D830039M14Rik C T 10: 61,475,483 probably benign Het
Dido1 T C 2: 180,689,335 T107A possibly damaging Het
Efna5 C A 17: 62,651,028 V78F probably damaging Het
Eml1 A G 12: 108,537,366 I741V probably benign Het
Gfap A G 11: 102,896,954 L55P probably damaging Het
Gm884 A G 11: 103,613,283 S2620P probably benign Het
Itga6 A G 2: 71,838,683 I606V probably benign Het
Kif2c G T 4: 117,162,605 D579E probably damaging Het
Lef1 T C 3: 131,194,793 probably null Het
Lrrc1 T A 9: 77,435,122 I357L probably benign Het
Map3k20 T A 2: 72,371,895 F157I probably damaging Het
Naga A T 15: 82,330,136 N391K probably damaging Het
Ncaph T C 2: 127,126,105 probably benign Het
Olfr103 T A 17: 37,336,996 M79L probably benign Het
Olfr290 T G 7: 84,916,359 Y193* probably null Het
Olfr6 T A 7: 106,956,391 I182F possibly damaging Het
Olfr744 C A 14: 50,618,728 Q169K probably benign Het
Olfr769 T G 10: 129,112,035 Y130S probably damaging Het
Olfr972 T A 9: 39,873,610 C112S possibly damaging Het
Pappa C A 4: 65,156,626 D472E possibly damaging Het
Pdxk G A 10: 78,451,485 L81F probably damaging Het
Pkhd1 G T 1: 20,310,710 T2635K probably damaging Het
Psmb6 A T 11: 70,526,422 H99L possibly damaging Het
Ptprz1 T A 6: 22,972,845 D251E probably benign Het
Ralgapa1 A G 12: 55,642,449 V1955A possibly damaging Het
Rsph4a T C 10: 33,905,152 probably benign Het
Sh2d4b T C 14: 40,820,743 T359A probably benign Het
Sh3bp5l A G 11: 58,346,261 D348G probably damaging Het
Skint5 A T 4: 113,940,735 M217K probably damaging Het
Slc30a6 T C 17: 74,404,059 L49P probably damaging Het
Slc8a1 C T 17: 81,648,744 M288I probably benign Het
Tmem127 C A 2: 127,256,002 probably null Het
Tnfrsf17 T C 16: 11,313,947 probably benign Het
Trak1 A T 9: 121,448,901 N341I probably damaging Het
Ubr5 A G 15: 38,002,448 I1453T probably benign Het
Wdr62 T C 7: 30,245,284 probably null Het
Xrn2 T C 2: 147,038,296 probably benign Het
Zscan10 C T 17: 23,608,145 A144V possibly damaging 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
IGL01865:Ptpn6 APN 6 124732465 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
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 OnApr 16, 2015