Incidental Mutation 'R6082:Ptpn11'
| ID |
482232 |
| 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 |
044241-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6082 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
121268596-121329460 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121292589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 253
(T253A)
|
| 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: T253A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000058757
Gene: ENSMUSG00000043733
AA Change: T253A
| 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: T253A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098333
Gene: ENSMUSG00000043733
AA Change: T253A
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
C |
1: 11,868,752 (GRCm39) |
I344T |
probably benign |
Het |
| Adamts19 |
G |
A |
18: 59,101,846 (GRCm39) |
A639T |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,930 (GRCm39) |
D122G |
probably damaging |
Het |
| Bin2 |
A |
G |
15: 100,543,029 (GRCm39) |
S358P |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Btaf1 |
C |
T |
19: 36,960,942 (GRCm39) |
R772C |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,390,301 (GRCm39) |
E1177G |
probably benign |
Het |
| Clec4b2 |
A |
T |
6: 123,181,100 (GRCm39) |
|
probably null |
Het |
| Dedd2 |
G |
A |
7: 24,910,715 (GRCm39) |
P154S |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,970,193 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhx8 |
C |
T |
11: 101,655,139 (GRCm39) |
R1050W |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,760,568 (GRCm39) |
K682R |
possibly damaging |
Het |
| Eif4e2 |
G |
T |
1: 87,153,956 (GRCm39) |
|
probably null |
Het |
| Ephb1 |
T |
C |
9: 101,848,303 (GRCm39) |
D665G |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,251,697 (GRCm39) |
V515M |
probably benign |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hook3 |
C |
A |
8: 26,600,813 (GRCm39) |
A32S |
probably benign |
Het |
| Hoxb4 |
T |
C |
11: 96,209,359 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
T |
A |
13: 8,940,506 (GRCm39) |
Y229* |
probably null |
Het |
| Lpl |
A |
T |
8: 69,349,301 (GRCm39) |
I276F |
probably damaging |
Het |
| Ltbp4 |
T |
C |
7: 27,035,105 (GRCm39) |
|
probably benign |
Het |
| Mphosph8 |
A |
G |
14: 56,905,998 (GRCm39) |
I64V |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,314,423 (GRCm39) |
D700G |
probably benign |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Myt1l |
T |
C |
12: 29,892,518 (GRCm39) |
Y52H |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,267,402 (GRCm39) |
D777E |
probably benign |
Het |
| Nudt4 |
A |
G |
10: 95,387,318 (GRCm39) |
I82T |
probably benign |
Het |
| Nwd2 |
T |
C |
5: 63,962,374 (GRCm39) |
C653R |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,890,393 (GRCm39) |
Y7380H |
unknown |
Het |
| Or13a18 |
A |
G |
7: 140,190,594 (GRCm39) |
T172A |
probably benign |
Het |
| Or8b3b |
C |
A |
9: 38,583,866 (GRCm39) |
R291S |
probably damaging |
Het |
| Or8j3 |
A |
C |
2: 86,028,661 (GRCm39) |
V145G |
probably damaging |
Het |
| Or8s8 |
C |
T |
15: 98,354,647 (GRCm39) |
A152V |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,148,714 (GRCm39) |
M409K |
probably damaging |
Het |
| Rabl6 |
C |
T |
2: 25,473,837 (GRCm39) |
|
probably benign |
Het |
| Rnf14 |
T |
C |
18: 38,434,723 (GRCm39) |
S57P |
possibly damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Slco1b2 |
A |
C |
6: 141,609,396 (GRCm39) |
I269L |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,656,714 (GRCm39) |
Y1918H |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,031,501 (GRCm39) |
I2255F |
possibly damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,972,511 (GRCm39) |
M615V |
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,777,172 (GRCm39) |
M199V |
probably benign |
Het |
| Tymp |
GC |
GCC |
15: 89,258,567 (GRCm39) |
|
probably null |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,429 (GRCm39) |
I628L |
probably benign |
Het |
| Zc2hc1b |
C |
A |
10: 13,047,055 (GRCm39) |
E19* |
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 |
|
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 |
|
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'- CCATCACGACTGGTTATATTAGCC -3'
(R):5'- AGAGTTTTGTTGTTTGACCCACC -3'
Sequencing Primer
(F):5'- GGTTATATTAGCCAGCATGTGACCC -3'
(R):5'- CATGGATGGCTCATACGTACCATG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation