Incidental Mutation 'R9376:Ptpn11'
ID 709615
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
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 121268596-121329460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 121282681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 435 (D435Y)
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: D435Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: D435Y

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: D431Y

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: D431Y

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T A 7: 119,893,438 (GRCm39) L1296H probably damaging Het
Abcb4 A T 5: 9,008,988 (GRCm39) D1215V probably damaging Het
Ache A C 5: 137,289,025 (GRCm39) I244L probably benign Het
Ankrd13d A T 19: 4,332,250 (GRCm39) V58D probably damaging Het
Ano3 A G 2: 110,496,782 (GRCm39) L789S probably damaging Het
Atp2a3 T C 11: 72,863,290 (GRCm39) V129A probably damaging Het
Cldn11 T C 3: 31,217,410 (GRCm39) S193P possibly damaging Het
Clpb A T 7: 101,360,625 (GRCm39) R218S probably benign Het
Cntln A G 4: 84,875,258 (GRCm39) S231G probably benign Het
Cntn4 T C 6: 106,639,591 (GRCm39) Y574H probably damaging Het
Col6a3 C T 1: 90,709,523 (GRCm39) R2498H unknown Het
Ctdnep1 T C 11: 69,875,594 (GRCm39) V108A probably damaging Het
Cyp2c67 A T 19: 39,627,178 (GRCm39) N217K probably damaging Het
Dao T A 5: 114,147,901 (GRCm39) M1K probably null Het
Dchs1 A G 7: 105,414,981 (GRCm39) probably null Het
Dennd4a A T 9: 64,819,974 (GRCm39) I1809L probably benign Het
Dnah7a T A 1: 53,568,058 (GRCm39) probably null Het
Epn1 A T 7: 5,086,720 (GRCm39) probably benign Het
Erich1 A G 8: 14,080,719 (GRCm39) S267P probably damaging Het
Gm17732 G T 18: 62,795,936 (GRCm39) V41L probably damaging Het
Gpaa1 C A 15: 76,218,826 (GRCm39) T556K possibly damaging Het
Gpr65 T A 12: 98,241,523 (GRCm39) S59T probably damaging Het
Hydin T C 8: 111,124,695 (GRCm39) V568A possibly damaging Het
Ifi205 T C 1: 173,854,221 (GRCm39) D144G probably benign Het
Itga1 T C 13: 115,107,112 (GRCm39) H993R probably benign Het
Itgax T C 7: 127,747,935 (GRCm39) L1075P possibly damaging Het
Itpr1 T A 6: 108,326,638 (GRCm39) V120E probably damaging Het
Kdm3b T C 18: 34,970,718 (GRCm39) S1762P probably damaging Het
Krt80 T A 15: 101,247,978 (GRCm39) T221S unknown Het
Lama2 T C 10: 26,994,620 (GRCm39) D1763G probably benign Het
Lrp5 T C 19: 3,670,286 (GRCm39) D606G probably benign Het
Map6d1 T C 16: 20,059,933 (GRCm39) D44G probably benign Het
Mtmr11 T A 3: 96,072,372 (GRCm39) I282K probably benign Het
Nalcn G A 14: 123,515,713 (GRCm39) T1696M possibly damaging Het
Nup214 T C 2: 31,924,244 (GRCm39) V1591A probably benign Het
Oas1f C A 5: 120,986,243 (GRCm39) Y65* probably null Het
Or1x6 T A 11: 50,939,662 (GRCm39) C243S probably damaging Het
Or2t43 T A 11: 58,457,683 (GRCm39) T163S possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or51f1e A T 7: 102,746,971 (GRCm39) T8S probably benign Het
Or5p58 A T 7: 107,694,471 (GRCm39) I102K possibly damaging Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Pigyl A G 9: 22,069,324 (GRCm39) I12V probably benign Het
Pno1 A T 11: 17,158,791 (GRCm39) D202E probably benign Het
Ppp5c A T 7: 16,743,849 (GRCm39) M195K probably damaging Het
Prrc2a A T 17: 35,369,598 (GRCm39) F1905Y possibly damaging Het
Rbm33 A G 5: 28,544,164 (GRCm39) Y140C probably damaging Het
Runx1t1 A G 4: 13,865,225 (GRCm39) E339G possibly damaging Het
Scube3 G T 17: 28,383,670 (GRCm39) K480N possibly damaging Het
Sephs1 T A 2: 4,910,469 (GRCm39) M313K probably benign Het
Tcaim T C 9: 122,655,995 (GRCm39) W304R probably damaging Het
Terf2ip C T 8: 112,738,514 (GRCm39) T134I probably damaging Het
Terf2ip A G 8: 112,744,528 (GRCm39) T282A probably benign Het
Tnfrsf18 G T 4: 156,112,448 (GRCm39) A102S probably benign Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Triqk A G 4: 12,962,987 (GRCm39) T9A probably benign Het
Tshz2 G A 2: 169,726,013 (GRCm39) S203N probably benign Het
Zc3h13 G A 14: 75,561,128 (GRCm39) V573I unknown Het
Zfhx4 A G 3: 5,306,833 (GRCm39) K20E probably damaging Het
Zfhx4 A G 3: 5,465,395 (GRCm39) D1876G 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
PIT4515001:Ptpn11 UTSW 5 121,302,617 (GRCm39) missense probably damaging 0.96
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
Z1176:Ptpn11 UTSW 5 121,281,157 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCCACAAAGGCCTATGTGG -3'
(R):5'- GCTTTCCATCTGCAAGGCAC -3'

Sequencing Primer
(F):5'- TGCCCTCAGAATGAGCAGTC -3'
(R):5'- CCAGGAAAGGTCAGCAGCC -3'
Posted On 2022-04-18