Incidental Mutation 'R4568:Ptpn4'
| ID |
341934 |
| 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 |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119607789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 757
(E757G)
|
| 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: E757G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067614
Gene: ENSMUSG00000026384
AA Change: E757G
| 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 |
|
| Meta Mutation Damage Score |
0.9349 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTGCTAGTATTGTGCTGATCAC -3'
(R):5'- ACTTTGGACATTGCCAGGAAATTT -3'
Sequencing Primer
(F):5'- GCTGATCACAGTCTTAAGTATTTAGC -3'
(R):5'- GGACATTGCCAGGAAATTTCTTTTAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation