Incidental Mutation 'IGL01490:Ptpn6'
ID 88810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn6
Ensembl Gene ENSMUSG00000004266
Gene Name protein tyrosine phosphatase, non-receptor type 6
Synonyms Hcph, SHP-1, hcp, Ptp1C
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # IGL01490
Quality Score
Status
Chromosome 6
Chromosomal Location 124697670-124715672 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 124705307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 208 (E208V)
Ref Sequence ENSEMBL: ENSMUSP00000133991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000112484] [ENSMUST00000171549] [ENSMUST00000174265] [ENSMUST00000173647] [ENSMUST00000174787]
AlphaFold P29351
Predicted Effect possibly damaging
Transcript: ENSMUST00000004377
AA Change: E249V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266
AA Change: E249V

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: E247V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108103
Gene: ENSMUSG00000004266
AA Change: E247V

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 possibly damaging
Transcript: ENSMUST00000171549
AA Change: E249V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266
AA Change: E249V

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 probably damaging
Transcript: ENSMUST00000174265
AA Change: E208V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266
AA Change: E208V

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
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: ENSMUST00000174787
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Atp6v0b G A 4: 117,742,303 (GRCm39) Q150* probably null Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Ptpn6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00710:Ptpn6 APN 6 124,709,319 (GRCm39) splice site probably null
IGL01865:Ptpn6 APN 6 124,709,428 (GRCm39) missense probably damaging 1.00
IGL02017:Ptpn6 APN 6 124,709,449 (GRCm39) missense probably damaging 0.98
IGL02272:Ptpn6 APN 6 124,698,171 (GRCm39) missense probably damaging 0.99
IGL02276:Ptpn6 APN 6 124,705,828 (GRCm39) missense probably null 1.00
IGL02556:Ptpn6 APN 6 124,705,623 (GRCm39) missense probably benign 0.00
candle UTSW 6 124,705,382 (GRCm39) missense probably damaging 1.00
caterpillar UTSW 6 124,701,947 (GRCm39) missense probably benign
farfalla_notturna UTSW 6 124,709,398 (GRCm39) missense probably damaging 1.00
Flutterby UTSW 6 124,698,821 (GRCm39) missense possibly damaging 0.89
Hawk UTSW 6 124,705,748 (GRCm39) missense probably damaging 1.00
Lepidopteran UTSW 6 124,705,135 (GRCm39) missense probably damaging 1.00
Malachite UTSW 6 124,705,614 (GRCm39) missense possibly damaging 0.84
Moth UTSW 6 124,705,135 (GRCm39) missense possibly damaging 0.89
Naphthalene UTSW 6 124,698,752 (GRCm39) missense probably benign 0.42
spin UTSW 6 124,705,522 (GRCm39) missense probably damaging 1.00
spin2 UTSW 6 124,709,332 (GRCm39) missense probably damaging 1.00
Vermeil UTSW 6 124,709,913 (GRCm39) missense probably benign 0.10
R0183:Ptpn6 UTSW 6 124,705,914 (GRCm39) missense probably damaging 1.00
R0254:Ptpn6 UTSW 6 124,705,113 (GRCm39) missense probably damaging 1.00
R0636:Ptpn6 UTSW 6 124,702,242 (GRCm39) missense probably benign
R0835:Ptpn6 UTSW 6 124,704,499 (GRCm39) critical splice acceptor site probably null
R1383:Ptpn6 UTSW 6 124,698,856 (GRCm39) missense probably damaging 1.00
R1638:Ptpn6 UTSW 6 124,698,148 (GRCm39) missense probably benign
R1900:Ptpn6 UTSW 6 124,705,896 (GRCm39) missense probably benign 0.15
R2047:Ptpn6 UTSW 6 124,698,752 (GRCm39) missense probably benign 0.42
R2143:Ptpn6 UTSW 6 124,701,947 (GRCm39) missense probably benign 0.01
R3907:Ptpn6 UTSW 6 124,702,239 (GRCm39) missense possibly damaging 0.86
R4082:Ptpn6 UTSW 6 124,705,382 (GRCm39) missense probably damaging 1.00
R4382:Ptpn6 UTSW 6 124,704,361 (GRCm39) missense possibly damaging 0.86
R5319:Ptpn6 UTSW 6 124,709,913 (GRCm39) missense probably benign 0.10
R5807:Ptpn6 UTSW 6 124,701,947 (GRCm39) missense probably benign
R5878:Ptpn6 UTSW 6 124,705,748 (GRCm39) missense probably damaging 1.00
R6056:Ptpn6 UTSW 6 124,709,398 (GRCm39) missense probably damaging 1.00
R6374:Ptpn6 UTSW 6 124,709,532 (GRCm39) splice site probably null
R7238:Ptpn6 UTSW 6 124,698,821 (GRCm39) missense possibly damaging 0.89
R7381:Ptpn6 UTSW 6 124,705,135 (GRCm39) missense probably damaging 1.00
R7935:Ptpn6 UTSW 6 124,709,425 (GRCm39) missense possibly damaging 0.93
R8297:Ptpn6 UTSW 6 124,705,614 (GRCm39) missense possibly damaging 0.84
R8863:Ptpn6 UTSW 6 124,709,309 (GRCm39) missense probably damaging 1.00
R9160:Ptpn6 UTSW 6 124,705,135 (GRCm39) missense possibly damaging 0.89
R9176:Ptpn6 UTSW 6 124,702,249 (GRCm39) missense probably benign
R9448:Ptpn6 UTSW 6 124,709,771 (GRCm39) missense probably damaging 1.00
R9594:Ptpn6 UTSW 6 124,704,728 (GRCm39) missense probably benign 0.04
R9756:Ptpn6 UTSW 6 124,705,592 (GRCm39) missense probably damaging 1.00
Z1176:Ptpn6 UTSW 6 124,702,039 (GRCm39) nonsense probably null
Posted On 2013-11-18