Incidental Mutation 'R7396:Ptpn11'
ID 573810
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 045478-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7396 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121268596-121329460 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121282707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 426 (T426N)
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 benign
Transcript: ENSMUST00000054547
AA Change: T426N

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: T426N

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 benign
Transcript: ENSMUST00000100770
AA Change: T422N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: T422N

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
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (79/79)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830403N18Rik G T X: 55,184,140 (GRCm39) probably null Het
Abcb5 A G 12: 118,831,609 (GRCm39) Y1248H probably damaging Het
Acacb A G 5: 114,351,722 (GRCm39) D1153G possibly damaging Het
Acsm3 T A 7: 119,373,052 (GRCm39) L185H probably damaging Het
Actr1a G A 19: 46,368,068 (GRCm39) T293I probably benign Het
Adig T C 2: 158,347,836 (GRCm39) L50P unknown Het
Ankrd28 A G 14: 31,424,159 (GRCm39) S994P probably benign Het
Ankrd35 T A 3: 96,590,813 (GRCm39) D366E probably damaging Het
Aqr A T 2: 113,950,427 (GRCm39) Y927* probably null Het
Asxl2 T A 12: 3,492,529 (GRCm39) I38N probably damaging Het
Atp9b T C 18: 80,780,057 (GRCm39) I1092V Het
B4galnt1 A G 10: 127,007,485 (GRCm39) E462G possibly damaging Het
BC048671 T A 6: 90,280,273 (GRCm39) V63E probably damaging Het
Bod1l A G 5: 41,988,889 (GRCm39) V406A probably damaging Het
Btn1a1 T G 13: 23,645,668 (GRCm39) I234L probably benign Het
Camk2b A C 11: 5,928,432 (GRCm39) S436A probably benign Het
Cc2d1a A T 8: 84,870,374 (GRCm39) probably null Het
Ces1b G T 8: 93,789,757 (GRCm39) N390K probably benign Het
Chpf T C 1: 75,451,927 (GRCm39) Q671R probably benign Het
Cspg4b T A 13: 113,455,524 (GRCm39) S523R Het
Dbr1 C A 9: 99,465,443 (GRCm39) N340K probably damaging Het
Dram1 T A 10: 88,176,507 (GRCm39) T73S probably benign Het
Efemp1 A T 11: 28,817,501 (GRCm39) R39S possibly damaging Het
Eif2b5 T G 16: 20,324,887 (GRCm39) I515S possibly damaging Het
Eif2d A T 1: 131,094,111 (GRCm39) N434I probably benign Het
Ercc6 C T 14: 32,291,762 (GRCm39) T1042I probably benign Het
Etl4 C T 2: 20,803,449 (GRCm39) P1057L possibly damaging Het
Fbxw16 T A 9: 109,278,091 (GRCm39) N29I probably damaging Het
Fbxw18 T C 9: 109,517,954 (GRCm39) D344G probably benign Het
Fgf15 G T 7: 144,453,542 (GRCm39) V172L probably benign Het
Fmod T C 1: 133,967,978 (GRCm39) V6A probably benign Het
Furin C A 7: 80,047,862 (GRCm39) R86L probably benign Het
Gabrr1 T C 4: 33,160,207 (GRCm39) V297A probably damaging Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Helb T C 10: 119,925,476 (GRCm39) D967G probably benign Het
Hmcn1 T C 1: 150,439,382 (GRCm39) T5601A possibly damaging Het
Hsbp1l1 G T 18: 80,276,634 (GRCm39) P70Q not run Het
Hsd17b1 T C 11: 100,970,033 (GRCm39) V155A probably damaging Het
Ireb2 T A 9: 54,789,617 (GRCm39) M97K possibly damaging Het
Kcnj6 C A 16: 94,563,306 (GRCm39) L397F probably benign Het
Lcorl A T 5: 46,014,801 (GRCm39) probably null Het
Lgi2 A T 5: 52,695,753 (GRCm39) I402N probably damaging Het
Lrat T A 3: 82,810,590 (GRCm39) R144* probably null Het
Mfhas1 G T 8: 36,057,353 (GRCm39) L609F probably damaging Het
Mink1 T A 11: 70,495,994 (GRCm39) I398K possibly damaging Het
Muc5ac A T 7: 141,362,152 (GRCm39) D1821V unknown Het
Myh2 T C 11: 67,085,554 (GRCm39) probably null Het
Ncor1 T C 11: 62,234,044 (GRCm39) E386G probably damaging Het
Ndufaf3 C T 9: 108,443,802 (GRCm39) V76M probably damaging Het
Neurod4 T C 10: 130,106,891 (GRCm39) T128A probably damaging Het
Ogfod1 T A 8: 94,765,615 (GRCm39) D59E probably benign Het
Or2j6 C T 7: 139,980,476 (GRCm39) R161H probably benign Het
Or2w1b T C 13: 21,300,477 (GRCm39) V205A probably benign Het
Or52n2b C T 7: 104,565,558 (GRCm39) S315N probably benign Het
Pcdh15 T A 10: 74,466,522 (GRCm39) V1513D probably benign Het
Pclo C A 5: 14,589,902 (GRCm39) T734K unknown Het
Phc2 A G 4: 128,641,954 (GRCm39) R759G probably benign Het
Plch1 A T 3: 63,606,375 (GRCm39) N1176K probably benign Het
Plec T A 15: 76,059,089 (GRCm39) Y3616F probably damaging Het
Rictor A G 15: 6,816,462 (GRCm39) T1245A not run Het
Rilp T C 11: 75,401,712 (GRCm39) V164A probably damaging Het
Rnf39 A T 17: 37,257,971 (GRCm39) T168S probably damaging Het
Rptor C G 11: 119,763,181 (GRCm39) Q922E probably benign Het
Sall1 A T 8: 89,759,396 (GRCm39) L236Q probably damaging Het
Skint7 A G 4: 111,845,324 (GRCm39) T379A probably benign Het
Spata22 C A 11: 73,236,702 (GRCm39) T336N probably damaging Het
Spata31 T C 13: 65,068,547 (GRCm39) S232P probably benign Het
Spink5 T A 18: 44,110,722 (GRCm39) C98S possibly damaging Het
Stard6 T C 18: 70,633,506 (GRCm39) V171A possibly damaging Het
Tex9 A T 9: 72,388,072 (GRCm39) probably null Het
Traf7 T C 17: 24,728,519 (GRCm39) D621G probably damaging Het
Trak1 C T 9: 121,277,973 (GRCm39) T353M possibly damaging Het
Trim68 A T 7: 102,327,569 (GRCm39) Y461* probably null Het
Usp1 A G 4: 98,814,688 (GRCm39) probably benign Het
Vmn2r42 T A 7: 8,195,641 (GRCm39) I502F probably benign Het
Wbp4 C A 14: 79,714,261 (GRCm39) G84C probably damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp787 A G 7: 6,135,106 (GRCm39) *382Q probably null Het
Zfp831 G T 2: 174,487,002 (GRCm39) C559F possibly damaging Het
Zgpat G C 2: 181,007,882 (GRCm39) A140P probably benign Het
Zscan4e T A 7: 11,041,002 (GRCm39) Y290F 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
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'- AAGGACAACTGACTTCCCAG -3'
(R):5'- CTTGGATCTCCTAACAGGCAGG -3'

Sequencing Primer
(F):5'- TGACTTCCCAGCCCCTAAG -3'
(R):5'- CAGGCTGACCCATTGATTGTCAAAG -3'
Posted On 2019-09-13