Incidental Mutation 'R9334:Ptpn4'
ID |
706967 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R9334 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119730114 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 26
(H26R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163435]
[ENSMUST00000163621]
[ENSMUST00000164086]
[ENSMUST00000166422]
[ENSMUST00000168303]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064091
AA Change: H26R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: H26R
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
AA Change: H26R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127713 Gene: ENSMUSG00000026384 AA Change: H26R
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: ENSMUST00000163621
AA Change: H26R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130808 Gene: ENSMUSG00000026384 AA Change: H26R
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
33 |
86 |
1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164086
AA Change: H20R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127998 Gene: ENSMUSG00000026384 AA Change: H20R
Domain | Start | End | E-Value | Type |
B41
|
19 |
133 |
4.88e-2 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000129180 Gene: ENSMUSG00000026384 AA Change: H26R
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
33 |
85 |
1.1e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168303
AA Change: H26R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129521 Gene: ENSMUSG00000026384 AA Change: H26R
Domain | Start | End | E-Value | Type |
Pfam:FERM_N
|
11 |
75 |
2.7e-9 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000130299 Gene: ENSMUSG00000026384 AA Change: H13R
Domain | Start | End | E-Value | Type |
B41
|
13 |
142 |
9.36e-14 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
A |
T |
1: 36,739,251 (GRCm39) |
I346N |
probably damaging |
Het |
Adam6b |
A |
C |
12: 113,454,768 (GRCm39) |
E528D |
probably damaging |
Het |
Ang |
A |
G |
14: 51,339,017 (GRCm39) |
M53V |
possibly damaging |
Het |
Ankrd26 |
G |
A |
6: 118,509,262 (GRCm39) |
A601V |
probably benign |
Het |
Atp6v0d2 |
A |
G |
4: 19,890,695 (GRCm39) |
L155P |
probably damaging |
Het |
Cacna1a |
T |
C |
8: 85,296,594 (GRCm39) |
V1204A |
probably damaging |
Het |
Car4 |
A |
G |
11: 84,855,415 (GRCm39) |
I183V |
probably benign |
Het |
Ccdc149 |
G |
T |
5: 52,578,171 (GRCm39) |
A87E |
possibly damaging |
Het |
Ccdc88b |
A |
G |
19: 6,833,541 (GRCm39) |
M208T |
possibly damaging |
Het |
Ccnt2 |
T |
C |
1: 127,723,046 (GRCm39) |
L162S |
probably damaging |
Het |
Cd27 |
A |
G |
6: 125,213,718 (GRCm39) |
|
probably null |
Het |
Cfap44 |
C |
A |
16: 44,239,654 (GRCm39) |
T567K |
probably damaging |
Het |
Cpne5 |
C |
T |
17: 29,423,673 (GRCm39) |
V152M |
probably benign |
Het |
Cyp2u1 |
C |
T |
3: 131,092,065 (GRCm39) |
V152M |
probably damaging |
Het |
Dnajc13 |
A |
T |
9: 104,051,659 (GRCm39) |
F1733I |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,403,027 (GRCm39) |
Y1409C |
probably damaging |
Het |
Ecm2 |
T |
C |
13: 49,677,815 (GRCm39) |
M367T |
probably benign |
Het |
Eif4g2 |
A |
G |
7: 110,674,031 (GRCm39) |
S658P |
possibly damaging |
Het |
Exoc3l4 |
T |
C |
12: 111,397,117 (GRCm39) |
L666P |
probably damaging |
Het |
Fbxl4 |
G |
A |
4: 22,376,778 (GRCm39) |
M71I |
probably damaging |
Het |
Fbxw10 |
T |
C |
11: 62,765,910 (GRCm39) |
S727P |
possibly damaging |
Het |
Fem1b |
A |
T |
9: 62,703,604 (GRCm39) |
L552* |
probably null |
Het |
Filip1 |
A |
T |
9: 79,725,739 (GRCm39) |
V960D |
probably benign |
Het |
Glipr1l3 |
A |
T |
10: 111,979,948 (GRCm39) |
M198K |
probably benign |
Het |
Gm19410 |
T |
A |
8: 36,270,722 (GRCm39) |
C1216* |
probably null |
Het |
Gmps |
T |
A |
3: 63,889,864 (GRCm39) |
V81E |
probably damaging |
Het |
Gpr150 |
G |
T |
13: 76,204,103 (GRCm39) |
Q281K |
probably benign |
Het |
Grsf1 |
A |
G |
5: 88,820,469 (GRCm39) |
V221A |
probably damaging |
Het |
Gsc |
T |
A |
12: 104,439,353 (GRCm39) |
I8F |
probably damaging |
Het |
Homer2 |
A |
T |
7: 81,261,078 (GRCm39) |
C284* |
probably null |
Het |
Hrg |
T |
A |
16: 22,780,061 (GRCm39) |
H446Q |
unknown |
Het |
Jag1 |
C |
T |
2: 136,943,593 (GRCm39) |
R201H |
probably damaging |
Het |
Kctd15 |
C |
T |
7: 34,341,483 (GRCm39) |
R148H |
possibly damaging |
Het |
Klhdc7a |
G |
A |
4: 139,693,493 (GRCm39) |
R485C |
probably benign |
Het |
Ldhd |
T |
A |
8: 112,353,980 (GRCm39) |
I407F |
probably benign |
Het |
Lgals12 |
G |
A |
19: 7,578,086 (GRCm39) |
R192C |
probably benign |
Het |
Lmf2 |
G |
A |
15: 89,239,577 (GRCm39) |
L26F |
probably damaging |
Het |
Lum |
A |
T |
10: 97,404,347 (GRCm39) |
I81F |
probably damaging |
Het |
Map1b |
G |
T |
13: 99,568,148 (GRCm39) |
D1524E |
unknown |
Het |
Marveld3 |
A |
G |
8: 110,675,036 (GRCm39) |
L260S |
probably damaging |
Het |
Mms19 |
C |
T |
19: 41,942,203 (GRCm39) |
R555H |
probably benign |
Het |
Mrpl37 |
G |
A |
4: 106,921,605 (GRCm39) |
T208I |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,838,490 (GRCm39) |
T498S |
probably benign |
Het |
Myo3b |
T |
C |
2: 70,047,360 (GRCm39) |
C289R |
probably damaging |
Het |
Myo7a |
A |
T |
7: 97,716,369 (GRCm39) |
F1459Y |
probably damaging |
Het |
Neurl4 |
C |
A |
11: 69,796,792 (GRCm39) |
R518S |
probably damaging |
Het |
Nmnat2 |
T |
G |
1: 152,949,585 (GRCm39) |
V43G |
probably damaging |
Het |
Or2b11 |
T |
C |
11: 59,462,272 (GRCm39) |
Y98C |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,840 (GRCm39) |
F120L |
probably benign |
Het |
Or6c6c |
A |
G |
10: 129,541,683 (GRCm39) |
N312S |
probably benign |
Het |
Otog |
A |
G |
7: 45,909,353 (GRCm39) |
T608A |
possibly damaging |
Het |
Pck2 |
G |
A |
14: 55,785,283 (GRCm39) |
R482Q |
probably damaging |
Het |
Pcx |
G |
A |
19: 4,670,532 (GRCm39) |
M1013I |
probably benign |
Het |
Pex13 |
A |
G |
11: 23,605,630 (GRCm39) |
M200T |
probably benign |
Het |
Pigt |
CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC |
2: 164,349,420 (GRCm39) |
|
probably null |
Het |
Pramel32 |
A |
T |
4: 88,548,186 (GRCm39) |
I73K |
probably damaging |
Het |
Ralgps2 |
T |
A |
1: 156,715,599 (GRCm39) |
E72V |
probably damaging |
Het |
Relch |
T |
A |
1: 105,654,179 (GRCm39) |
F873L |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,512,264 (GRCm39) |
C396S |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,410,550 (GRCm39) |
N283K |
possibly damaging |
Het |
Setx |
T |
A |
2: 29,044,032 (GRCm39) |
Y1800* |
probably null |
Het |
Sgce |
G |
T |
6: 4,707,205 (GRCm39) |
S213R |
probably damaging |
Het |
Skic3 |
C |
A |
13: 76,281,076 (GRCm39) |
T704N |
possibly damaging |
Het |
Slc36a2 |
T |
C |
11: 55,075,865 (GRCm39) |
|
probably benign |
Het |
Sult5a1 |
A |
T |
8: 123,875,146 (GRCm39) |
D129E |
probably damaging |
Het |
Tacr1 |
A |
T |
6: 82,380,913 (GRCm39) |
H108L |
probably damaging |
Het |
Tnfsf10 |
T |
A |
3: 27,389,496 (GRCm39) |
Y186N |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,688,919 (GRCm39) |
S2428P |
possibly damaging |
Het |
Vwf |
G |
A |
6: 125,654,909 (GRCm39) |
R2535H |
|
Het |
Zfp532 |
A |
G |
18: 65,756,128 (GRCm39) |
I20M |
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 |
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 |
RF014:Ptpn4
|
UTSW |
1 |
119,612,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGAATGAGCAGGAATACTTG -3'
(R):5'- CAGTTGCTGAGCTCCCATACTC -3'
Sequencing Primer
(F):5'- AGACTTCCTTAAGTAAGACTGTCC -3'
(R):5'- CTCCTTAAATCTTCTCAGTCAAACAG -3'
|
Posted On |
2022-04-18 |