Incidental Mutation 'R5471:Ptpn4'
ID |
433789 |
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 |
043032-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R5471 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 119693649 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 124
(Y124*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163179]
[ENSMUST00000163435]
[ENSMUST00000166422]
[ENSMUST00000168303]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably null
Transcript: ENSMUST00000064091
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: Y124*
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: ENSMUST00000163179
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163435
AA Change: Y124*
|
SMART Domains |
Protein: ENSMUSP00000127713 Gene: ENSMUSG00000026384 AA Change: Y124*
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: ENSMUST00000166422
AA Change: S84T
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000129180 Gene: ENSMUSG00000026384 AA Change: S84T
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
33 |
85 |
1.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168303
|
SMART Domains |
Protein: ENSMUSP00000129521 Gene: ENSMUSG00000026384
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
11 |
75 |
2.7e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168429
|
SMART Domains |
Protein: ENSMUSP00000130299 Gene: ENSMUSG00000026384
Domain | Start | End | E-Value | Type |
B41
|
13 |
142 |
9.36e-14 |
SMART |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
Validation Efficiency |
96% (67/70) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
Pira1 |
T |
A |
7: 3,738,514 (GRCm39) |
I621F |
probably benign |
Het |
Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
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 |
|
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'- ACACTGGAAGTTTCTATCTGCATTC -3'
(R):5'- AAGTCTTTTCTCCCCGGCAG -3'
Sequencing Primer
(F):5'- TGACTGCCAGTTGAGACCAATCTAG -3'
(R):5'- CCGGCAGCAGAGATCTTAG -3'
|
Posted On |
2016-10-06 |