Incidental Mutation 'IGL02348:Ptpn4'
| ID |
289379 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
IGL02348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119610452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 685
(Y685C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000166624]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064091
AA Change: Y685C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: Y685C
| 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: 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 |
|
| Coding Region Coverage |
|
| 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 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
G |
A |
10: 4,304,722 (GRCm39) |
D511N |
probably damaging |
Het |
| Akt3 |
T |
A |
1: 176,886,952 (GRCm39) |
D299V |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,467,095 (GRCm39) |
P2035L |
probably benign |
Het |
| Atp13a3 |
C |
T |
16: 30,170,046 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
A |
8: 125,321,416 (GRCm39) |
P151T |
probably damaging |
Het |
| Csrnp1 |
T |
A |
9: 119,801,709 (GRCm39) |
D450V |
probably damaging |
Het |
| Ctrb1 |
C |
T |
8: 112,413,762 (GRCm39) |
A201T |
possibly damaging |
Het |
| Erp27 |
T |
C |
6: 136,888,544 (GRCm39) |
T145A |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,323,640 (GRCm39) |
I298V |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,032,002 (GRCm39) |
L256Q |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,721,354 (GRCm39) |
V433I |
probably benign |
Het |
| Fbxo9 |
T |
A |
9: 78,016,289 (GRCm39) |
M1L |
probably benign |
Het |
| Fcnb |
C |
A |
2: 27,974,842 (GRCm39) |
V10F |
possibly damaging |
Het |
| Gad2 |
C |
T |
2: 22,519,405 (GRCm39) |
H175Y |
probably damaging |
Het |
| Get4 |
G |
A |
5: 139,238,254 (GRCm39) |
G12D |
probably benign |
Het |
| Gmpr2 |
T |
A |
14: 55,915,758 (GRCm39) |
I312N |
probably damaging |
Het |
| Golm1 |
T |
A |
13: 59,786,191 (GRCm39) |
M334L |
probably benign |
Het |
| Itgam |
T |
A |
7: 127,715,472 (GRCm39) |
F1054L |
possibly damaging |
Het |
| Kcnk7 |
C |
A |
19: 5,756,501 (GRCm39) |
|
probably benign |
Het |
| Kif3b |
G |
A |
2: 153,158,813 (GRCm39) |
A205T |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,406,659 (GRCm39) |
V276M |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,349 (GRCm39) |
N715I |
probably damaging |
Het |
| Mfap5 |
T |
A |
6: 122,503,746 (GRCm39) |
S103R |
possibly damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,326 (GRCm39) |
V876M |
probably damaging |
Het |
| Ncor1 |
A |
T |
11: 62,224,485 (GRCm39) |
|
probably benign |
Het |
| Nfya |
G |
A |
17: 48,700,304 (GRCm39) |
Q122* |
probably null |
Het |
| Nup210l |
G |
A |
3: 90,011,471 (GRCm39) |
|
probably benign |
Het |
| Or5h22 |
T |
G |
16: 58,895,312 (GRCm39) |
I44L |
probably damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,631,861 (GRCm39) |
L552Q |
probably damaging |
Het |
| Psmd2 |
T |
A |
16: 20,473,397 (GRCm39) |
S153T |
probably benign |
Het |
| Rad54l2 |
T |
C |
9: 106,597,575 (GRCm39) |
R144G |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,855 (GRCm39) |
Y206* |
probably null |
Het |
| Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
| Stx2 |
G |
A |
5: 129,065,894 (GRCm39) |
A254V |
probably damaging |
Het |
| Sumf2 |
G |
T |
5: 129,888,711 (GRCm39) |
G216C |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,100,715 (GRCm39) |
S88P |
probably benign |
Het |
| Trem1 |
T |
A |
17: 48,539,824 (GRCm39) |
M1K |
probably null |
Het |
| Trmt1l |
T |
C |
1: 151,325,757 (GRCm39) |
Y401H |
probably damaging |
Het |
| Ttc22 |
A |
T |
4: 106,480,135 (GRCm39) |
M130L |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,940,289 (GRCm39) |
E816G |
probably damaging |
Het |
| Wnt9b |
C |
T |
11: 103,622,908 (GRCm39) |
G165D |
probably damaging |
Het |
| Zscan21 |
A |
G |
5: 138,131,645 (GRCm39) |
T390A |
probably damaging |
Het |
| Zswim7 |
G |
T |
11: 62,159,581 (GRCm39) |
C85* |
probably null |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation