Incidental Mutation 'R0105:Ptpn4'
| ID |
17785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpn4
|
| Ensembl Gene |
ENSMUSG00000026384 |
| Gene Name |
protein tyrosine phosphatase, non-receptor type 4 |
| Synonyms |
testis-enriched phosphatase, protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte), hPTP-MEG, TEP, PTPMEG, TEP/mPTPMEG |
| MMRRC Submission |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 119615335 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000064091]
[ENSMUST00000163435]
[ENSMUST00000166624]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064091
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
7.33e-80 |
SMART |
|
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
|
FA
|
322 |
368 |
3.28e-12 |
SMART |
|
PDZ
|
526 |
605 |
2.47e-14 |
SMART |
|
PTPc
|
654 |
913 |
1.38e-120 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000064091
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
7.33e-80 |
SMART |
|
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
|
FA
|
322 |
368 |
3.28e-12 |
SMART |
|
PDZ
|
526 |
605 |
2.47e-14 |
SMART |
|
PTPc
|
654 |
913 |
1.38e-120 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163435
|
| SMART Domains |
Protein: ENSMUSP00000127713
Gene: ENSMUSG00000026384
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
25 |
222 |
7.33e-80 |
SMART |
|
FERM_C
|
226 |
316 |
6.48e-34 |
SMART |
|
FA
|
322 |
368 |
3.28e-12 |
SMART |
|
PDB:3NFL|D
|
499 |
552 |
4e-30 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166624
|
| SMART Domains |
Protein: ENSMUSP00000126216
Gene: ENSMUSG00000026384
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PTPc
|
1 |
65 |
1e-34 |
BLAST |
|
PDB:2I75|A
|
15 |
67 |
2e-28 |
PDB |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
| Validation Efficiency |
96% (53/55) |
| 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 protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. This PTP has been shown to interact with glutamate receptor delta 2 and epsilon subunits, and is thought to play a role in signalling downstream of the glutamate receptors through tyrosine dephosphorylation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit impaired coordination, abnormal eye blink conditioning behavior, and reduced long term depression. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
| Treml2 |
C |
T |
17: 48,609,856 (GRCm39) |
T96I |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
| Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
| Other mutations in Ptpn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00825:Ptpn4
|
APN |
1 |
119,587,655 (GRCm39) |
splice site |
probably benign |
|
|
IGL00885:Ptpn4
|
APN |
1 |
119,730,093 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00973:Ptpn4
|
APN |
1 |
119,669,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01867:Ptpn4
|
APN |
1 |
119,603,329 (GRCm39) |
missense |
probably benign |
|
|
IGL01870:Ptpn4
|
APN |
1 |
119,603,277 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02101:Ptpn4
|
APN |
1 |
119,615,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02344:Ptpn4
|
APN |
1 |
119,700,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02348:Ptpn4
|
APN |
1 |
119,610,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02693:Ptpn4
|
APN |
1 |
119,643,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03281:Ptpn4
|
APN |
1 |
119,587,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
alto
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
|
blinding
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
botched
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bungled
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
|
Fovea
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
hash
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
|
Hoechter
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Lumens
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB008:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB018:Ptpn4
|
UTSW |
1 |
119,607,925 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0105:Ptpn4
|
UTSW |
1 |
119,615,335 (GRCm39) |
splice site |
probably null |
|
|
R0504:Ptpn4
|
UTSW |
1 |
119,693,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,612,270 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1148:Ptpn4
|
UTSW |
1 |
119,603,439 (GRCm39) |
splice site |
probably benign |
|
|
R1662:Ptpn4
|
UTSW |
1 |
119,692,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1694:Ptpn4
|
UTSW |
1 |
119,711,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1733:Ptpn4
|
UTSW |
1 |
119,643,773 (GRCm39) |
splice site |
probably null |
|
|
R2083:Ptpn4
|
UTSW |
1 |
119,615,489 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2226:Ptpn4
|
UTSW |
1 |
119,610,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2277:Ptpn4
|
UTSW |
1 |
119,612,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3123:Ptpn4
|
UTSW |
1 |
119,693,153 (GRCm39) |
splice site |
probably null |
|
|
R3425:Ptpn4
|
UTSW |
1 |
119,635,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4568:Ptpn4
|
UTSW |
1 |
119,607,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ptpn4
|
UTSW |
1 |
119,649,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4819:Ptpn4
|
UTSW |
1 |
119,587,580 (GRCm39) |
missense |
probably benign |
|
|
R4959:Ptpn4
|
UTSW |
1 |
119,692,826 (GRCm39) |
nonsense |
probably null |
|
|
R5161:Ptpn4
|
UTSW |
1 |
119,635,593 (GRCm39) |
nonsense |
probably null |
|
|
R5345:Ptpn4
|
UTSW |
1 |
119,693,207 (GRCm39) |
missense |
probably benign |
|
|
R5471:Ptpn4
|
UTSW |
1 |
119,693,649 (GRCm39) |
nonsense |
probably null |
|
|
R5826:Ptpn4
|
UTSW |
1 |
119,612,246 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5933:Ptpn4
|
UTSW |
1 |
119,615,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6075:Ptpn4
|
UTSW |
1 |
119,692,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6286:Ptpn4
|
UTSW |
1 |
119,649,592 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6389:Ptpn4
|
UTSW |
1 |
119,649,684 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6392:Ptpn4
|
UTSW |
1 |
119,700,853 (GRCm39) |
missense |
probably benign |
|
|
R6769:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6771:Ptpn4
|
UTSW |
1 |
119,643,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6794:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6933:Ptpn4
|
UTSW |
1 |
119,700,878 (GRCm39) |
intron |
probably benign |
|
|
R6967:Ptpn4
|
UTSW |
1 |
119,612,311 (GRCm39) |
nonsense |
probably null |
|
|
R6980:Ptpn4
|
UTSW |
1 |
119,671,151 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7150:Ptpn4
|
UTSW |
1 |
119,619,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7247:Ptpn4
|
UTSW |
1 |
119,617,764 (GRCm39) |
makesense |
probably null |
|
|
R7283:Ptpn4
|
UTSW |
1 |
119,610,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7459:Ptpn4
|
UTSW |
1 |
119,587,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7732:Ptpn4
|
UTSW |
1 |
119,620,532 (GRCm39) |
missense |
probably benign |
|
|
R7794:Ptpn4
|
UTSW |
1 |
119,653,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Ptpn4
|
UTSW |
1 |
119,619,330 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8236:Ptpn4
|
UTSW |
1 |
119,606,552 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8929:Ptpn4
|
UTSW |
1 |
119,595,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8979:Ptpn4
|
UTSW |
1 |
119,671,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9334:Ptpn4
|
UTSW |
1 |
119,730,114 (GRCm39) |
missense |
probably benign |
|
|
RF014:Ptpn4
|
UTSW |
1 |
119,612,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-01-31 |
Incidental Mutation