Incidental Mutation 'PIT4515001:Ptpn11'
ID 556304
Institutional Source Beutler Lab
Gene Symbol Ptpn11
Ensembl Gene ENSMUSG00000043733
Gene Name protein tyrosine phosphatase, non-receptor type 11
Synonyms Shp2, SH-PTP2, Syp, 2700084A17Rik, SHP-2, SH2 domain-containing protein tyrosine phosphatase-2, PTP2C, PTP1D
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4515001 (G1)
Quality Score 172.009
Status Not validated
Chromosome 5
Chromosomal Location 121268596-121329460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121302617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 156 (D156Y)
Ref Sequence ENSEMBL: ENSMUSP00000058757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054547] [ENSMUST00000100770]
AlphaFold P35235
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: D156Y

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: D156Y

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 possibly damaging
Transcript: ENSMUST00000100770
AA Change: D156Y

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: D156Y

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
Coding Region Coverage
  • 1x: 93.4%
  • 3x: 91.0%
  • 10x: 86.0%
  • 20x: 75.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,068 (GRCm39) R966* probably null Het
Adam32 A T 8: 25,404,342 (GRCm39) I221K possibly damaging Het
Adcy6 T C 15: 98,493,027 (GRCm39) T880A probably benign Het
Agpat5 T A 8: 18,896,657 (GRCm39) Y28N probably damaging Het
Atg2a A G 19: 6,303,615 (GRCm39) I1125V probably damaging Het
B4galt6 A G 18: 20,821,524 (GRCm39) Y335H probably benign Het
Bend3 A T 10: 43,386,630 (GRCm39) E341V probably damaging Het
Bltp1 T A 3: 37,028,385 (GRCm39) Y2351N probably damaging Het
Ccdc136 T A 6: 29,417,225 (GRCm39) V682E probably benign Het
Ccdc142 T C 6: 83,080,238 (GRCm39) C394R probably benign Het
Cfap58 A G 19: 48,023,122 (GRCm39) N845D probably benign Het
Col4a3 G A 1: 82,660,024 (GRCm39) G890R unknown Het
Cyp1a2 C A 9: 57,589,242 (GRCm39) V191L probably benign Het
Cyp51 A T 5: 4,149,122 (GRCm39) probably null Het
Diras2 T C 13: 52,661,783 (GRCm39) S175G possibly damaging Het
Dnah6 A G 6: 73,091,565 (GRCm39) F2242S probably damaging Het
Erg T A 16: 95,210,619 (GRCm39) N78Y probably benign Het
Fdft1 T A 14: 63,402,032 (GRCm39) Q49L probably benign Het
Frem1 G T 4: 82,818,663 (GRCm39) H2183Q probably damaging Het
Fut2 G A 7: 45,299,890 (GRCm39) T294I probably damaging Het
Gabrb1 A C 5: 71,858,160 (GRCm39) D62A probably damaging Het
Gbe1 T A 16: 70,238,004 (GRCm39) Y263* probably null Het
Gimap6 T C 6: 48,679,502 (GRCm39) D178G probably benign Het
Gss T A 2: 155,420,261 (GRCm39) T147S probably damaging Het
Hlcs A T 16: 94,068,275 (GRCm39) V315E probably benign Het
Hoxa3 C T 6: 52,147,164 (GRCm39) G363E unknown Het
Ift140 A G 17: 25,305,834 (GRCm39) N807S probably damaging Het
Iglc1 T G 16: 18,880,701 (GRCm39) D40A Het
Itga10 T A 3: 96,569,948 (GRCm39) I1120N probably damaging Het
Jak3 T C 8: 72,132,286 (GRCm39) V217A probably benign Het
Kank2 T G 9: 21,706,179 (GRCm39) I280L probably benign Het
Kcnk1 G T 8: 126,752,081 (GRCm39) G229V probably damaging Het
Kpna7 T C 5: 144,941,862 (GRCm39) T143A probably benign Het
Letmd1 C T 15: 100,374,683 (GRCm39) R310C probably damaging Het
Mga G A 2: 119,746,985 (GRCm39) V379I probably damaging Het
Mto1 T A 9: 78,364,699 (GRCm39) Y313N probably damaging Het
Muc5ac G A 7: 141,361,153 (GRCm39) C1488Y probably damaging Het
Nde1 T A 16: 13,988,357 (GRCm39) probably null Het
Nfatc3 T C 8: 106,805,835 (GRCm39) S235P possibly damaging Het
Nup88 T C 11: 70,835,547 (GRCm39) D602G probably benign Het
Or11g25 T A 14: 50,723,536 (GRCm39) M207K probably benign Het
Or2h1b A C 17: 37,462,270 (GRCm39) S198A probably benign Het
Pcnx1 G A 12: 82,038,561 (GRCm39) C1309Y Het
Phldb1 A G 9: 44,627,257 (GRCm39) I396T probably benign Het
Pramel38 T C 5: 94,368,831 (GRCm39) M442T probably benign Het
Pramel41 A C 5: 94,594,694 (GRCm39) K185Q probably benign Het
Prss53 G A 7: 127,487,963 (GRCm39) T173I probably benign Het
Rfx8 A G 1: 39,729,265 (GRCm39) Y167H probably benign Het
Rpsa T A 9: 119,960,214 (GRCm39) I259N probably benign Het
Rrm2b G T 15: 37,947,048 (GRCm39) D84E probably benign Het
Scgb2b19 A T 7: 32,979,036 (GRCm39) probably null Het
Sik3 T C 9: 46,120,029 (GRCm39) L706P probably damaging Het
Slc4a4 A T 5: 89,281,112 (GRCm39) E426D probably damaging Het
Slc8a2 C A 7: 15,874,504 (GRCm39) L251I possibly damaging Het
Taf6 T C 5: 138,180,504 (GRCm39) K287E probably benign Het
Tiam1 G A 16: 89,657,130 (GRCm39) T702I probably damaging Het
Tle1 A T 4: 72,117,556 (GRCm39) F35I possibly damaging Het
Tle2 A G 10: 81,422,964 (GRCm39) Q454R possibly damaging Het
Tsc2 T C 17: 24,840,121 (GRCm39) N425S probably benign Het
Utp3 A G 5: 88,702,564 (GRCm39) D31G probably benign Het
Vmn1r173 A T 7: 23,401,911 (GRCm39) R49* probably null Het
Ybx2 T A 11: 69,831,224 (GRCm39) V273E probably benign Het
Zbtb22 G A 17: 34,137,672 (GRCm39) A606T probably benign Het
Zcchc8 A T 5: 123,838,995 (GRCm39) D514E probably benign Het
Zfy2 T A Y: 2,117,096 (GRCm39) I244F probably benign Het
Zglp1 T C 9: 20,977,485 (GRCm39) N110S probably benign Het
Other mutations in Ptpn11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Ptpn11 APN 5 121,281,199 (GRCm39) missense probably damaging 1.00
IGL03132:Ptpn11 APN 5 121,272,878 (GRCm39) missense possibly damaging 0.94
noon UTSW 5 121,282,716 (GRCm39) missense probably damaging 1.00
R0837:Ptpn11 UTSW 5 121,287,174 (GRCm39) missense probably benign
R1544:Ptpn11 UTSW 5 121,275,574 (GRCm39) missense probably benign 0.04
R2131:Ptpn11 UTSW 5 121,310,089 (GRCm39) missense probably damaging 0.99
R4124:Ptpn11 UTSW 5 121,275,520 (GRCm39) missense probably benign 0.00
R6082:Ptpn11 UTSW 5 121,292,589 (GRCm39) missense probably benign
R6331:Ptpn11 UTSW 5 121,282,716 (GRCm39) missense probably damaging 1.00
R6628:Ptpn11 UTSW 5 121,272,892 (GRCm39) splice site probably null
R7077:Ptpn11 UTSW 5 121,281,633 (GRCm39) missense probably benign 0.12
R7396:Ptpn11 UTSW 5 121,282,707 (GRCm39) missense probably benign 0.04
R8682:Ptpn11 UTSW 5 121,306,053 (GRCm39) missense possibly damaging 0.94
R8965:Ptpn11 UTSW 5 121,301,229 (GRCm39) missense possibly damaging 0.74
R9376:Ptpn11 UTSW 5 121,282,681 (GRCm39) missense probably damaging 1.00
Z1176:Ptpn11 UTSW 5 121,281,157 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGCTTCAAAACGATGGGCC -3'
(R):5'- TGAGTGTGGTCCGTGAGAAC -3'

Sequencing Primer
(F):5'- AACGATGGGCCCCACACG -3'
(R):5'- TGGTCCGTGAGAACGTGCC -3'
Posted On 2019-06-07