Incidental Mutation 'R8061:Ptpn4'
| ID |
619681 |
| 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 |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 119619330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163435]
[ENSMUST00000166624]
|
| AlphaFold |
Q9WU22 |
| Predicted Effect |
probably benign
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: 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: ENSMUST00000164269
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acads |
G |
A |
5: 115,255,710 (GRCm39) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,263,411 (GRCm39) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,408 (GRCm39) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,747,456 (GRCm39) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,728,982 (GRCm39) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,948,447 (GRCm39) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,331,920 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,300 (GRCm39) |
M1770K |
possibly damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,853,527 (GRCm39) |
|
probably benign |
Het |
| Cfap300 |
A |
G |
9: 8,042,672 (GRCm39) |
W37R |
probably damaging |
Het |
| Chrm1 |
T |
C |
19: 8,656,518 (GRCm39) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,491,655 (GRCm39) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,230,040 (GRCm39) |
Y100C |
probably benign |
Het |
| Cyria |
G |
T |
12: 12,412,028 (GRCm39) |
A150S |
possibly damaging |
Het |
| Dclk2 |
T |
C |
3: 86,720,981 (GRCm39) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,669,077 (GRCm39) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 182,869,151 (GRCm39) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,058 (GRCm39) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,374,052 (GRCm39) |
T566I |
probably benign |
Het |
| Dop1a |
T |
G |
9: 86,403,246 (GRCm39) |
M18R |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,546,884 (GRCm39) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,997,275 (GRCm39) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,124,903 (GRCm39) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,180,725 (GRCm39) |
W301* |
probably null |
Het |
| Fpgt |
A |
G |
3: 154,792,903 (GRCm39) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,011,785 (GRCm39) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,311,077 (GRCm39) |
|
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,751,851 (GRCm39) |
C1412S |
probably damaging |
Het |
| Iqcn |
A |
G |
8: 71,161,224 (GRCm39) |
E139G |
probably benign |
Het |
| Klhl2 |
A |
C |
8: 65,211,257 (GRCm39) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,288,562 (GRCm39) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,637,612 (GRCm39) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,663,938 (GRCm39) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,410,240 (GRCm39) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,970,259 (GRCm39) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,398 (GRCm39) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,030,239 (GRCm39) |
Y119* |
probably null |
Het |
| Ncapg2 |
A |
G |
12: 116,390,197 (GRCm39) |
N382S |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,524,633 (GRCm39) |
P206L |
probably damaging |
Het |
| Or2h2b-ps1 |
A |
G |
17: 37,480,792 (GRCm39) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,256,461 (GRCm39) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 14,956,297 (GRCm39) |
S13P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,153,179 (GRCm39) |
D413G |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,188,316 (GRCm39) |
Y803F |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,380,162 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,382,660 (GRCm39) |
Y143N |
possibly damaging |
Het |
| Rapgef3 |
T |
C |
15: 97,659,401 (GRCm39) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm39) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,522,938 (GRCm39) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,088,077 (GRCm39) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,018,361 (GRCm39) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,965,419 (GRCm39) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,751,610 (GRCm39) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,364,184 (GRCm39) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,762 (GRCm39) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,501,663 (GRCm39) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,469,064 (GRCm39) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,323,778 (GRCm39) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,523,404 (GRCm39) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,084,953 (GRCm39) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,805,409 (GRCm39) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,579,453 (GRCm39) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,174,692 (GRCm39) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,434,893 (GRCm39) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,109,665 (GRCm39) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,793,573 (GRCm39) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,340 (GRCm39) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,768,208 (GRCm39) |
T674A |
probably benign |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAACTGCCACTCCATCTCAA -3'
(R):5'- TGAAAATGGAAGGTTTGGATTCAA -3'
Sequencing Primer
(F):5'- AACACTGCATTCTGAGCTCTGAGG -3'
(R):5'- TCAATGTAAAGGTAATCCAGAACG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation