Incidental Mutation 'IGL03132:Ptpn11'
ID |
410386 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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)
|
Stock # |
IGL03132
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
121268596-121329460 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121272878 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 575
(D575V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054547]
[ENSMUST00000100770]
|
AlphaFold |
P35235 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054547
AA Change: D579V
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000058757 Gene: ENSMUSG00000043733 AA Change: D579V
Domain | Start | End | E-Value | Type |
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: D575V
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000098333 Gene: ENSMUSG00000043733 AA Change: D575V
Domain | Start | End | E-Value | Type |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
Gpa33 |
G |
A |
1: 165,980,218 (GRCm39) |
D94N |
probably benign |
Het |
Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
Het |
|
Other mutations in Ptpn11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01326:Ptpn11
|
APN |
5 |
121,281,199 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Posted On |
2016-08-02 |