Incidental Mutation 'R5702:Ptpn7'
| ID |
451728 |
| 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 |
043182-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5702 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135060438-135073055 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135061582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 15
(T15A)
|
| 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: T15A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045803
Gene: ENSMUSG00000031506
AA Change: T15A
| 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: T15A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129474
Gene: ENSMUSG00000031506
AA Change: T15A
| 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: T15A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141133
Gene: ENSMUSG00000031506
AA Change: T15A
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,787,752 (GRCm39) |
S1018N |
probably benign |
Het |
| Adat1 |
G |
T |
8: 112,704,704 (GRCm39) |
T414K |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,979,204 (GRCm39) |
V163L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,978 (GRCm39) |
I288T |
possibly damaging |
Het |
| Blm |
A |
T |
7: 80,108,675 (GRCm39) |
V1323E |
probably benign |
Het |
| Brap |
T |
A |
5: 121,803,206 (GRCm39) |
L118Q |
probably damaging |
Het |
| C1qbp |
G |
A |
11: 70,869,570 (GRCm39) |
T171I |
probably benign |
Het |
| Ccdc136 |
C |
A |
6: 29,412,981 (GRCm39) |
H455Q |
probably damaging |
Het |
| Chd3 |
A |
T |
11: 69,252,261 (GRCm39) |
V47D |
possibly damaging |
Het |
| Cnot10 |
A |
C |
9: 114,458,078 (GRCm39) |
F143V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,004,873 (GRCm39) |
S191P |
possibly damaging |
Het |
| Coro2b |
G |
A |
9: 62,333,859 (GRCm39) |
T345I |
probably damaging |
Het |
| Dennd1b |
T |
C |
1: 139,061,413 (GRCm39) |
I365T |
probably damaging |
Het |
| Dnah11 |
C |
A |
12: 118,077,642 (GRCm39) |
A1284S |
probably benign |
Het |
| Dock4 |
G |
A |
12: 40,787,490 (GRCm39) |
D802N |
probably benign |
Het |
| Dsg1a |
T |
C |
18: 20,469,922 (GRCm39) |
|
probably null |
Het |
| Elp3 |
C |
T |
14: 65,815,431 (GRCm39) |
R187Q |
probably damaging |
Het |
| Ercc3 |
G |
A |
18: 32,387,206 (GRCm39) |
R473Q |
probably damaging |
Het |
| F5 |
G |
A |
1: 164,022,116 (GRCm39) |
W1530* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,076,491 (GRCm39) |
I219T |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,101,663 (GRCm39) |
R1033C |
probably benign |
Het |
| Gm2381 |
T |
A |
7: 42,471,820 (GRCm39) |
I20F |
probably benign |
Het |
| Hmgcll1 |
A |
G |
9: 75,991,672 (GRCm39) |
M129V |
possibly damaging |
Het |
| Ltbp3 |
G |
T |
19: 5,797,849 (GRCm39) |
R496L |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,373,549 (GRCm39) |
V234A |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,473,208 (GRCm39) |
A901V |
probably benign |
Het |
| Or1j4 |
A |
G |
2: 36,740,946 (GRCm39) |
D296G |
probably damaging |
Het |
| Pde7a |
A |
T |
3: 19,295,371 (GRCm39) |
C146* |
probably null |
Het |
| Pla2g4e |
T |
A |
2: 120,018,992 (GRCm39) |
N202Y |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,196,401 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
G |
A |
9: 92,225,741 (GRCm39) |
|
probably null |
Het |
| Rrn3 |
T |
A |
16: 13,631,130 (GRCm39) |
Y655* |
probably null |
Het |
| Scarb2 |
C |
T |
5: 92,599,255 (GRCm39) |
G355D |
probably damaging |
Het |
| Scd2 |
G |
A |
19: 44,286,502 (GRCm39) |
A111T |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,838,021 (GRCm39) |
T57A |
possibly damaging |
Het |
| Spire2 |
C |
T |
8: 124,073,402 (GRCm39) |
P94S |
probably benign |
Het |
| Tex2 |
T |
C |
11: 106,435,221 (GRCm39) |
H237R |
possibly damaging |
Het |
| Vmn2r109 |
T |
C |
17: 20,774,407 (GRCm39) |
D316G |
probably benign |
Het |
| Zfp830 |
T |
A |
11: 82,655,800 (GRCm39) |
F201L |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,133 (GRCm39) |
F313S |
probably damaging |
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 |
|
R1505:Ptpn7
|
UTSW |
1 |
135,062,302 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CGCTTGCTTGAGGGAATAGC -3'
(R):5'- TGGGCGAGCAACCTTCAAATG -3'
Sequencing Primer
(F):5'- AATAGCTGGCTGGCCTGGAC -3'
(R):5'- GCAACCTTCAAATGAGCATTATTTGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation