Incidental Mutation 'R1505:Ptpn7'
| ID |
169098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn7
|
| Ensembl Gene |
ENSMUSG00000031506 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 7 |
| Synonyms |
LC-PTP, BPTP-4, C920001D21Rik |
| MMRRC Submission |
040868-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1505 (G1)
|
| Quality Score |
154 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135060438-135073055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135062302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 83
(T83S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049449]
[ENSMUST00000167080]
[ENSMUST00000187985]
|
| AlphaFold |
Q8BUM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049449
AA Change: T83S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506
AA Change: T83S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167080
AA Change: T83S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506
AA Change: T83S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187985
AA Change: T83S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506
AA Change: T83S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
34 |
N/A |
INTRINSIC |
|
PTPc
|
96 |
351 |
2.3e-117 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188478
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
| 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 gene is preferentially expressed in a variety of hematopoietic cells, and is an early response gene in lymphokine stimulated cells. The non-catalytic N-terminus of this PTP can interact with MAP kinases and suppress the MAP kinase activities. This PTP was shown to be involved in the regulation of T cell antigen receptor (TCR) signaling, which was thought to function through dephosphorylating the molecules related to MAP kinase pathway. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
| Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
| Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
| Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
| Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
| Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
| Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
| Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
| Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
| Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
| Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,652,354 (GRCm39) |
V79A |
possibly damaging |
Het |
| Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
| Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
| Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
| Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
| Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
| Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
| Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
| Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
| Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
| Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
| Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
| Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
| Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
probably benign |
Het |
|
| Other mutations in Ptpn7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Ptpn7
|
APN |
1 |
135,062,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02894:Ptpn7
|
APN |
1 |
135,070,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0486:Ptpn7
|
UTSW |
1 |
135,065,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0708:Ptpn7
|
UTSW |
1 |
135,062,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1427:Ptpn7
|
UTSW |
1 |
135,062,192 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1728:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1729:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1730:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1739:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1762:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1783:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1784:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1785:Ptpn7
|
UTSW |
1 |
135,062,213 (GRCm39) |
missense |
probably benign |
|
|
R1893:Ptpn7
|
UTSW |
1 |
135,062,641 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4834:Ptpn7
|
UTSW |
1 |
135,065,618 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5015:Ptpn7
|
UTSW |
1 |
135,066,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5381:Ptpn7
|
UTSW |
1 |
135,070,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5702:Ptpn7
|
UTSW |
1 |
135,061,582 (GRCm39) |
missense |
probably benign |
|
|
R6422:Ptpn7
|
UTSW |
1 |
135,062,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6736:Ptpn7
|
UTSW |
1 |
135,066,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8387:Ptpn7
|
UTSW |
1 |
135,061,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8874:Ptpn7
|
UTSW |
1 |
135,067,004 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1176:Ptpn7
|
UTSW |
1 |
135,062,249 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCCTCTAGGTCAAGACAAAGAC -3'
(R):5'- ATGGGGACAACCTCTCTCCTACAC -3'
Sequencing Primer
(F):5'- TCTAGGTCAAGACAAAGACTCAGC -3'
(R):5'- CTACACCCCAAGGAGAAGAGAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation