Incidental Mutation 'R5672:Pten'
| ID |
442700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pten
|
| Ensembl Gene |
ENSMUSG00000013663 |
| Gene Name |
phosphatase and tensin homolog |
| Synonyms |
TEP1, B430203M17Rik, A130070J02Rik, 2310035O07Rik, MMAC1 |
| MMRRC Submission |
043174-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5672 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
32734977-32803560 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32735866 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 8
(I8V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000013807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013807]
|
| AlphaFold |
O08586 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000013807
AA Change: I8V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000013807
Gene: ENSMUSG00000013663
AA Change: I8V
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,383 (GRCm39) |
N181S |
possibly damaging |
Het |
| Abcf3 |
A |
T |
16: 20,368,002 (GRCm39) |
Q74L |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 157,666,664 (GRCm39) |
|
probably null |
Het |
| Bub1 |
A |
G |
2: 127,646,800 (GRCm39) |
F827L |
possibly damaging |
Het |
| Cfap68 |
T |
C |
9: 50,675,227 (GRCm39) |
T67A |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,023,990 (GRCm39) |
I355V |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,313,696 (GRCm39) |
S319P |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,025 (GRCm39) |
V34D |
probably damaging |
Het |
| Fam131a |
G |
T |
16: 20,518,389 (GRCm39) |
E88D |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,817,838 (GRCm39) |
R4524* |
probably null |
Het |
| Gm6899 |
C |
T |
11: 26,543,484 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
C |
T |
16: 32,839,878 (GRCm39) |
R356Q |
probably damaging |
Het |
| Itgae |
T |
A |
11: 73,036,377 (GRCm39) |
I1105N |
possibly damaging |
Het |
| Klb |
T |
C |
5: 65,537,292 (GRCm39) |
I874T |
possibly damaging |
Het |
| Klc3 |
T |
C |
7: 19,130,256 (GRCm39) |
Y307C |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,231,771 (GRCm39) |
H378L |
probably benign |
Het |
| Mxd4 |
G |
A |
5: 34,335,044 (GRCm39) |
R114C |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,895,242 (GRCm39) |
R241* |
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,433,905 (GRCm39) |
H67Y |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,379 (GRCm39) |
T134A |
possibly damaging |
Het |
| Or5p5 |
A |
G |
7: 107,413,844 (GRCm39) |
T18A |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,507 (GRCm39) |
I26N |
possibly damaging |
Het |
| Pard3b |
G |
T |
1: 62,049,625 (GRCm39) |
A128S |
probably benign |
Het |
| Plat |
T |
C |
8: 23,263,664 (GRCm39) |
Y188H |
probably benign |
Het |
| Pop1 |
A |
G |
15: 34,530,325 (GRCm39) |
K908E |
possibly damaging |
Het |
| Pwwp2a |
C |
T |
11: 43,596,968 (GRCm39) |
A436V |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,173,900 (GRCm39) |
C2023R |
possibly damaging |
Het |
| Serpina1d |
A |
C |
12: 103,730,101 (GRCm39) |
D360E |
possibly damaging |
Het |
| Serpinb9b |
A |
G |
13: 33,223,582 (GRCm39) |
D258G |
probably benign |
Het |
| Smgc |
G |
A |
15: 91,726,108 (GRCm39) |
S18N |
possibly damaging |
Het |
| Snx27 |
A |
T |
3: 94,410,157 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
G |
11: 69,712,263 (GRCm39) |
K134Q |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,752,522 (GRCm39) |
M321L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,602,697 (GRCm39) |
C163R |
possibly damaging |
Het |
| Ube2ql1 |
A |
T |
13: 69,887,446 (GRCm39) |
L5H |
unknown |
Het |
| Ubn2 |
T |
C |
6: 38,438,462 (GRCm39) |
I225T |
probably damaging |
Het |
| Vmn1r181 |
A |
C |
7: 23,683,741 (GRCm39) |
T69P |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,816,494 (GRCm39) |
F10L |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 19,980,779 (GRCm39) |
M236T |
probably damaging |
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 |
|
|
R5200:Pten
|
UTSW |
19 |
32,777,291 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- CAGTCTCTGCAACCATCCAG -3'
(R):5'- ATGCACGATCTAGAAATGCGC -3'
Sequencing Primer
(F):5'- GCCGCAGCAGCCATTAC -3'
(R):5'- GCGCCCAGAATTAAACGTTATAGTC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation