Incidental Mutation 'R6794:Ptpn4'
ID |
531651 |
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 |
044907-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R6794 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119671120 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 213
(T213A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163179]
[ENSMUST00000163435]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064091
AA Change: T213A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: T213A
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 damaging
Transcript: ENSMUST00000163435
AA Change: T213A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127713 Gene: ENSMUSG00000026384 AA Change: T213A
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: ENSMUST00000168429
|
SMART Domains |
Protein: ENSMUSP00000130299 Gene: ENSMUSG00000026384
Domain | Start | End | E-Value | Type |
B41
|
13 |
142 |
9.36e-14 |
SMART |
|
Meta Mutation Damage Score |
0.1757 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.4%
|
Validation Efficiency |
100% (37/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agxt |
T |
C |
1: 93,063,104 (GRCm39) |
V30A |
possibly damaging |
Het |
Atf7 |
T |
C |
15: 102,465,900 (GRCm39) |
K87E |
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
Btg4 |
A |
C |
9: 51,030,651 (GRCm39) |
K250N |
possibly damaging |
Het |
Cracdl |
A |
G |
1: 37,676,936 (GRCm39) |
|
probably null |
Het |
Cyc1 |
A |
G |
15: 76,228,850 (GRCm39) |
Y132C |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,445,667 (GRCm39) |
D137E |
possibly damaging |
Het |
Ddr2 |
C |
A |
1: 169,809,667 (GRCm39) |
W770L |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,814,514 (GRCm39) |
V126A |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,099,805 (GRCm39) |
N643D |
probably benign |
Het |
Gabrg1 |
C |
T |
5: 70,973,314 (GRCm39) |
R75H |
probably damaging |
Het |
Gm14418 |
A |
T |
2: 177,079,631 (GRCm39) |
H121Q |
probably damaging |
Het |
H2-Ob |
T |
A |
17: 34,460,162 (GRCm39) |
L20Q |
possibly damaging |
Het |
Herpud1 |
T |
A |
8: 95,121,398 (GRCm39) |
|
probably null |
Het |
Ica1 |
T |
C |
6: 8,653,659 (GRCm39) |
D326G |
probably benign |
Het |
Jph3 |
T |
C |
8: 122,512,124 (GRCm39) |
L704P |
probably benign |
Het |
Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
Lnpep |
T |
G |
17: 17,751,421 (GRCm39) |
N948T |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,741,893 (GRCm39) |
V3888D |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,363,289 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
T |
C |
19: 46,296,159 (GRCm39) |
|
probably null |
Het |
Pik3r2 |
T |
C |
8: 71,223,361 (GRCm39) |
H380R |
probably benign |
Het |
Prim1 |
T |
C |
10: 127,854,018 (GRCm39) |
S124P |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,675 (GRCm39) |
T57A |
possibly damaging |
Het |
Sapcd2 |
A |
G |
2: 25,266,379 (GRCm39) |
S389G |
probably damaging |
Het |
Scn5a |
T |
C |
9: 119,364,955 (GRCm39) |
Q421R |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,101,985 (GRCm39) |
Y430H |
probably damaging |
Het |
Shf |
A |
G |
2: 122,184,321 (GRCm39) |
L234P |
probably damaging |
Het |
Slc22a29 |
G |
T |
19: 8,138,887 (GRCm39) |
S525Y |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,950,519 (GRCm39) |
|
probably null |
Het |
Tln2 |
T |
C |
9: 67,193,840 (GRCm39) |
D666G |
probably benign |
Het |
Ubqlnl |
C |
T |
7: 103,797,992 (GRCm39) |
E502K |
probably benign |
Het |
Vmn2r118 |
T |
A |
17: 55,899,348 (GRCm39) |
H852L |
possibly damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,387,204 (GRCm39) |
F787L |
probably damaging |
Het |
Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
Ylpm1 |
A |
G |
12: 85,043,655 (GRCm39) |
H131R |
unknown |
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 |
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'- GCAAGCACAAATTATCTTGTTACCTAG -3'
(R):5'- TGAATTACTGCAAGTATGACCTTG -3'
Sequencing Primer
(F):5'- AGGAGTTGGAGTTTATGGCTAAG -3'
(R):5'- TGGATCTAGTTTTTGACCTG -3'
|
Posted On |
2018-08-29 |