Incidental Mutation 'IGL01326:Ptpn11'
ID74270
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn11
Ensembl Gene ENSMUSG00000043733
Gene Nameprotein tyrosine phosphatase, non-receptor type 11
SynonymsSHP-2, SH2 domain-containing protein tyrosine phosphatase-2, Syp, 2700084A17Rik, SH-PTP2, Shp2, PTP2C, PTP1D
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01326
Quality Score
Status
Chromosome5
Chromosomal Location121130533-121191397 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121143136 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 493 (D493G)
Ref Sequence ENSEMBL: ENSMUSP00000058757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054547] [ENSMUST00000100770]
PDB Structure CRYSTAL STRUCTURES OF PEPTIDE COMPLEXES OF THE AMINO-TERMINAL SH2 DOMAIN OF THE SYP TYROSINE PHOSPHATASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURES OF PEPTIDE COMPLEXES OF THE AMINO-TERMINAL SH2 DOMAIN OF THE SYP TYROSINE PHOSPHATASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURES OF PEPTIDE COMPLEXES OF THE AMINO-TERMINAL SH2 DOMAIN OF THE SYP TYROSINE PHOSPHATASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURES OF PEPTIDE COMPLEXES OF THE AMINO-TERMINAL SH2 DOMAIN OF THE SYP TYROSINE PHOSPHATASE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000054547
AA Change: D493G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: D493G

DomainStartEndE-ValueType
SH2 4 87 8.34e-30 SMART
SH2 110 203 9.65e-35 SMART
PTPc 246 527 7.22e-133 SMART
low complexity region 563 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100770
AA Change: D489G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: D489G

DomainStartEndE-ValueType
SH2 4 87 8.34e-30 SMART
SH2 110 203 9.65e-35 SMART
PTPc 246 523 5.19e-134 SMART
low complexity region 559 569 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148871
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. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mutants exhibit abnormal mesoderm patterning leading to a failure of gastrulation and death by embryonic day 10.5. In heterozygous state the null mutant acts as a dominant enhancer of a mild epidermal growth factor receptor mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Ptpn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03132:Ptpn11 APN 5 121134815 missense possibly damaging 0.94
noon UTSW 5 121144653 missense probably damaging 1.00
PIT4515001:Ptpn11 UTSW 5 121164554 missense probably damaging 0.96
R0837:Ptpn11 UTSW 5 121149111 missense probably benign
R1544:Ptpn11 UTSW 5 121137511 missense probably benign 0.04
R2131:Ptpn11 UTSW 5 121172026 missense probably damaging 0.99
R4124:Ptpn11 UTSW 5 121137457 missense probably benign 0.00
R6082:Ptpn11 UTSW 5 121154526 missense probably benign
R6331:Ptpn11 UTSW 5 121144653 missense probably damaging 1.00
R6628:Ptpn11 UTSW 5 121134829 splice site probably null
R7077:Ptpn11 UTSW 5 121143570 missense probably benign 0.12
R7396:Ptpn11 UTSW 5 121144644 missense probably benign 0.04
R8682:Ptpn11 UTSW 5 121167990 missense possibly damaging 0.94
Z1176:Ptpn11 UTSW 5 121143094 missense probably damaging 1.00
Posted On2013-10-07