Incidental Mutation 'R0837:Ptpn11'
| ID |
77988 |
| 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 |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
121268596-121329460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 121287174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 406
(V406I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054547]
[ENSMUST00000100770]
|
| AlphaFold |
P35235 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054547
AA Change: V406I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: V406I
| 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 |
probably benign
Transcript: ENSMUST00000100770
AA Change: V406I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: V406I
| 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
|
| Meta Mutation Damage Score |
0.0681 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,333,375 (GRCm39) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,050,260 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 44,104,537 (GRCm39) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,577,697 (GRCm39) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,869,351 (GRCm39) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,607,231 (GRCm39) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,963,501 (GRCm39) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,725,490 (GRCm39) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,877,495 (GRCm39) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm39) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,722,942 (GRCm39) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,383,714 (GRCm39) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,699,418 (GRCm39) |
P617L |
probably damaging |
Het |
| H2ac21 |
G |
A |
3: 96,127,439 (GRCm39) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,604,058 (GRCm39) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,823,458 (GRCm39) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,097,443 (GRCm39) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,381,072 (GRCm39) |
I639F |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,378,077 (GRCm39) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,367,251 (GRCm39) |
M282L |
probably benign |
Het |
| Or10aa1 |
A |
G |
1: 173,870,053 (GRCm39) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,903,425 (GRCm39) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,898,321 (GRCm39) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,778,444 (GRCm39) |
N32I |
probably damaging |
Het |
| Rab40c |
G |
A |
17: 26,103,667 (GRCm39) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,304,495 (GRCm39) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,415,815 (GRCm39) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,711,036 (GRCm39) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,766,326 (GRCm39) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,360,405 (GRCm39) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,067 (GRCm39) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,822,561 (GRCm39) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,545,482 (GRCm39) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,417,141 (GRCm39) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,753,596 (GRCm39) |
I573T |
possibly damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,559,632 (GRCm39) |
T420I |
probably damaging |
Het |
| Ulk1 |
A |
T |
5: 110,937,411 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,688,103 (GRCm39) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,521,366 (GRCm39) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,189 (GRCm39) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,491,026 (GRCm39) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,089,506 (GRCm39) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,081,242 (GRCm39) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm39) |
Y638* |
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 |
|
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 |
|
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'- TGGCAACTCAGCAAGTGTCACC -3'
(R):5'- CTGGATTTTCACTAGGGCTTGGGAC -3'
Sequencing Primer
(F):5'- gaggcagaggcaggtgg -3'
(R):5'- ATGCGCTCAAAGAATACGGG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation