Incidental Mutation 'R8965:Ptpn11'
| ID |
682670 |
| 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 |
068799-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121268596-121329460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121301229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 205
(T205M)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000054547
AA Change: T205M
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: T205M
| 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: T205M
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: T205M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,760,723 (GRCm39) |
I1260K |
probably benign |
Het |
| Ace3 |
G |
T |
11: 105,896,175 (GRCm39) |
C707F |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,839,761 (GRCm39) |
H224R |
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,107,612 (GRCm39) |
D669G |
probably benign |
Het |
| Cdk5rap2 |
A |
C |
4: 70,185,042 (GRCm39) |
V1136G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,479,646 (GRCm39) |
V277E |
probably damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,443,186 (GRCm39) |
L416P |
possibly damaging |
Het |
| Dnah17 |
T |
G |
11: 117,915,492 (GRCm39) |
T4376P |
probably damaging |
Het |
| E4f1 |
C |
T |
17: 24,664,504 (GRCm39) |
V429M |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erich6 |
A |
T |
3: 58,531,738 (GRCm39) |
D419E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,296,990 (GRCm39) |
E451G |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,118,469 (GRCm39) |
Y181H |
probably damaging |
Het |
| Igkv2-109 |
A |
T |
6: 68,280,112 (GRCm39) |
Y111F |
probably damaging |
Het |
| Lztr1 |
T |
C |
16: 17,327,296 (GRCm39) |
|
probably null |
Het |
| Myh13 |
A |
T |
11: 67,255,432 (GRCm39) |
M1601L |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Or10ag53 |
A |
T |
2: 87,082,901 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or2w2 |
T |
C |
13: 21,758,387 (GRCm39) |
T80A |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,314 (GRCm39) |
L130P |
probably damaging |
Het |
| P2rx1 |
T |
C |
11: 72,900,051 (GRCm39) |
V156A |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,791,134 (GRCm39) |
N444S |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,257,815 (GRCm39) |
Y559H |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,094,769 (GRCm39) |
D63G |
possibly damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,485,853 (GRCm39) |
A1915V |
probably benign |
Het |
| Peli1 |
T |
C |
11: 21,098,488 (GRCm39) |
Y408H |
probably damaging |
Het |
| Psma5 |
T |
A |
3: 108,172,510 (GRCm39) |
|
probably null |
Het |
| Rapgef2 |
A |
G |
3: 78,999,851 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc12a4 |
A |
G |
8: 106,671,982 (GRCm39) |
V910A |
possibly damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,718 (GRCm39) |
T306A |
probably damaging |
Het |
| Spata6 |
T |
A |
4: 111,680,009 (GRCm39) |
Y422* |
probably null |
Het |
| Svop |
A |
G |
5: 114,173,271 (GRCm39) |
Y367H |
probably benign |
Het |
| Trgv3 |
T |
A |
13: 19,427,180 (GRCm39) |
L21Q |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,006 (GRCm39) |
L315S |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,718 (GRCm39) |
V693A |
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,901,797 (GRCm39) |
Y521N |
possibly damaging |
Het |
| Vcam1 |
T |
A |
3: 115,922,422 (GRCm39) |
K34* |
probably null |
Het |
| Vwa1 |
A |
T |
4: 155,857,440 (GRCm39) |
Y119* |
probably null |
Het |
| Vwa5b2 |
A |
G |
16: 20,415,076 (GRCm39) |
H366R |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,905,936 (GRCm39) |
Q168K |
probably benign |
Het |
| Wipf2 |
A |
G |
11: 98,783,497 (GRCm39) |
S308G |
probably benign |
Het |
| Zbtb25 |
A |
C |
12: 76,396,577 (GRCm39) |
I215S |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,155 (GRCm39) |
S71P |
probably damaging |
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 |
|
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 |
|
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'- GGCACATCATCCCAAATTGG -3'
(R):5'- TAAGAACACAGTGGCTGCAG -3'
Sequencing Primer
(F):5'- GGGTGTCACTGAAGCAGATC -3'
(R):5'- TGGCTGCAGGCAGGTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation