Incidental Mutation 'R5200:Pten'
| ID |
400736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pten
|
| Ensembl Gene |
ENSMUSG00000013663 |
| Gene Name |
phosphatase and tensin homolog |
| Synonyms |
TEP1, B430203M17Rik, A130070J02Rik, 2310035O07Rik, MMAC1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5200 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
32734977-32803560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32777291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 95
(P95L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013807]
|
| AlphaFold |
O08586 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000013807
AA Change: P95L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000013807
Gene: ENSMUSG00000013663
AA Change: P95L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Y_phosphatase
|
42 |
183 |
2.7e-6 |
PFAM |
|
Pfam:DSPc
|
67 |
173 |
2.4e-9 |
PFAM |
|
PTEN_C2
|
188 |
349 |
4.07e-49 |
SMART |
|
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140014
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a phosphatase with dual activity against phospholipids and proteins, and acts as a tumor-suppressor. The protein contains four structural domains, a PIP2-binding domain, a catalytic tensin-type phosphatase domain, a C2 tensin-type domain and a PDZ-binding domain. The protein belongs to the protein tyrosine phosphatase family. Deletion of this gene in mice contribute to tumorigenesis in multiple tissues. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants die by E9.5 with abnormally patterned enlarged brains and defective placentas. Heterozygotes develop a range of neoplasms. Conditional mutants demonstrate effects on basic processes of proliferation, differentiation and apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
C |
5: 4,010,734 (GRCm39) |
V497A |
probably benign |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,798,014 (GRCm39) |
R997G |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,702,604 (GRCm39) |
S848P |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,156 (GRCm39) |
I810V |
probably benign |
Het |
| C1ql4 |
T |
G |
15: 98,982,718 (GRCm39) |
I212L |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,475,387 (GRCm39) |
Y443C |
probably benign |
Het |
| Cfap45 |
C |
T |
1: 172,372,696 (GRCm39) |
Q464* |
probably null |
Het |
| Clcn3 |
T |
C |
8: 61,376,039 (GRCm39) |
K618R |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf4 |
T |
C |
9: 72,879,713 (GRCm39) |
S418P |
probably damaging |
Het |
| H2-M10.2 |
T |
G |
17: 36,595,641 (GRCm39) |
R216S |
probably benign |
Het |
| Hook1 |
A |
G |
4: 95,881,367 (GRCm39) |
D113G |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,897,340 (GRCm39) |
E914G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,248,059 (GRCm39) |
|
probably null |
Het |
| Itpr2 |
A |
T |
6: 146,045,605 (GRCm39) |
|
probably null |
Het |
| Myo6 |
C |
T |
9: 80,183,656 (GRCm39) |
Q684* |
probably null |
Het |
| Nrde2 |
T |
A |
12: 100,096,756 (GRCm39) |
I1015F |
possibly damaging |
Het |
| Or12e9 |
T |
A |
2: 87,202,446 (GRCm39) |
V190E |
probably damaging |
Het |
| Or2d4 |
G |
A |
7: 106,544,187 (GRCm39) |
T7I |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,074,076 (GRCm39) |
N210I |
probably damaging |
Het |
| Pax4 |
G |
A |
6: 28,445,138 (GRCm39) |
P179L |
probably damaging |
Het |
| Pcx |
G |
A |
19: 4,668,532 (GRCm39) |
D656N |
probably damaging |
Het |
| Pms1 |
T |
A |
1: 53,245,916 (GRCm39) |
H541L |
probably benign |
Het |
| Rsrc2 |
G |
A |
5: 123,877,562 (GRCm39) |
R140* |
probably null |
Het |
| Shc3 |
T |
C |
13: 51,670,601 (GRCm39) |
M49V |
probably damaging |
Het |
| Snap91 |
C |
G |
9: 86,697,497 (GRCm39) |
K288N |
probably damaging |
Het |
| Spag17 |
C |
T |
3: 99,970,787 (GRCm39) |
Q1324* |
probably null |
Het |
| Tasor |
A |
G |
14: 27,151,183 (GRCm39) |
E53G |
probably benign |
Het |
| Tfr2 |
A |
G |
5: 137,569,242 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,803 (GRCm39) |
I99K |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,878 (GRCm39) |
V119E |
probably damaging |
Het |
| Tmtc4 |
T |
G |
14: 123,182,969 (GRCm39) |
D243A |
probably benign |
Het |
| Tnc |
A |
T |
4: 63,889,515 (GRCm39) |
S1755T |
probably damaging |
Het |
| Trim67 |
T |
C |
8: 125,551,589 (GRCm39) |
S590P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,590,287 (GRCm39) |
T12814S |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,150,923 (GRCm39) |
S708T |
probably benign |
Het |
| Vmn2r69 |
A |
T |
7: 85,055,717 (GRCm39) |
F807Y |
probably damaging |
Het |
| Vmn2r97 |
C |
T |
17: 19,148,615 (GRCm39) |
P170L |
probably damaging |
Het |
| Zfp612 |
C |
T |
8: 110,816,532 (GRCm39) |
Q580* |
probably null |
Het |
|
| Other mutations in Pten |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
Arrest
|
UTSW |
19 |
32,795,412 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Brakes
|
UTSW |
19 |
32,792,897 (GRCm39) |
missense |
probably benign |
|
|
Bremse
|
UTSW |
19 |
32,777,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0131:Pten
|
UTSW |
19 |
32,753,469 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0557:Pten
|
UTSW |
19 |
32,795,290 (GRCm39) |
missense |
probably benign |
|
|
R1387:Pten
|
UTSW |
19 |
32,775,496 (GRCm39) |
missense |
probably benign |
|
|
R1479:Pten
|
UTSW |
19 |
32,797,250 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1773:Pten
|
UTSW |
19 |
32,775,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Pten
|
UTSW |
19 |
32,735,903 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4802:Pten
|
UTSW |
19 |
32,735,903 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5196:Pten
|
UTSW |
19 |
32,792,897 (GRCm39) |
missense |
probably benign |
|
|
R5672:Pten
|
UTSW |
19 |
32,735,866 (GRCm39) |
missense |
probably benign |
|
|
R6143:Pten
|
UTSW |
19 |
32,777,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7644:Pten
|
UTSW |
19 |
32,789,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Pten
|
UTSW |
19 |
32,777,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Pten
|
UTSW |
19 |
32,792,894 (GRCm39) |
missense |
probably benign |
|
|
R9023:Pten
|
UTSW |
19 |
32,795,412 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9149:Pten
|
UTSW |
19 |
32,769,972 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Pten
|
UTSW |
19 |
32,777,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Pten
|
UTSW |
19 |
32,753,451 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Pten
|
UTSW |
19 |
32,775,515 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Pten
|
UTSW |
19 |
32,789,205 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGTTTCCATGTCTAATGAATGC -3'
(R):5'- AAATCTAGGGCCTCTTGTGCC -3'
Sequencing Primer
(F):5'- AGGCTTCTTTTAAGAACCAG -3'
(R):5'- GTGCCTTTAAAAATTTGCCCCGATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation