Incidental Mutation 'R1733:Ptpn4'
ID |
199442 |
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 |
039765-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R1733 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 119643773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000064091]
[ENSMUST00000163435]
[ENSMUST00000163435]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably null
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: 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 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 |
noncoding transcript
Transcript: ENSMUST00000168808
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 91.9%
|
Validation Efficiency |
95% (95/100) |
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: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
T |
G |
18: 59,165,001 (GRCm39) |
C1034W |
probably damaging |
Het |
Agbl2 |
G |
T |
2: 90,641,089 (GRCm39) |
K737N |
probably damaging |
Het |
Aqp9 |
T |
A |
9: 71,019,624 (GRCm39) |
I279F |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,384,855 (GRCm39) |
N166K |
probably benign |
Het |
Atp13a3 |
A |
T |
16: 30,176,084 (GRCm39) |
I186N |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,972,362 (GRCm39) |
I1366L |
probably benign |
Het |
Camk4 |
A |
C |
18: 33,211,074 (GRCm39) |
K60Q |
possibly damaging |
Het |
Card11 |
G |
T |
5: 140,892,388 (GRCm39) |
Q226K |
possibly damaging |
Het |
Ccdc187 |
T |
C |
2: 26,183,670 (GRCm39) |
D110G |
possibly damaging |
Het |
Col5a2 |
C |
T |
1: 45,446,192 (GRCm39) |
R462Q |
possibly damaging |
Het |
Cp |
A |
T |
3: 20,022,383 (GRCm39) |
|
probably benign |
Het |
Cpz |
A |
T |
5: 35,675,102 (GRCm39) |
V38E |
probably damaging |
Het |
Cxcr6 |
G |
A |
9: 123,639,181 (GRCm39) |
V68I |
probably damaging |
Het |
Cyp2a22 |
C |
A |
7: 26,634,187 (GRCm39) |
E322D |
possibly damaging |
Het |
D130052B06Rik |
C |
T |
11: 33,573,784 (GRCm39) |
T127I |
probably benign |
Het |
Daam2 |
T |
A |
17: 49,797,231 (GRCm39) |
M185L |
possibly damaging |
Het |
Dnaja3 |
G |
A |
16: 4,502,029 (GRCm39) |
R11K |
probably null |
Het |
Dnttip2 |
T |
A |
3: 122,070,397 (GRCm39) |
S537R |
probably benign |
Het |
Dock9 |
G |
T |
14: 121,864,292 (GRCm39) |
H572Q |
probably benign |
Het |
Dpp4 |
T |
A |
2: 62,203,213 (GRCm39) |
|
probably null |
Het |
Enc1 |
T |
G |
13: 97,381,550 (GRCm39) |
I20S |
possibly damaging |
Het |
Ephb6 |
T |
A |
6: 41,596,654 (GRCm39) |
H900Q |
probably benign |
Het |
Ercc3 |
T |
C |
18: 32,400,218 (GRCm39) |
V690A |
possibly damaging |
Het |
Fam90a1a |
C |
T |
8: 22,453,385 (GRCm39) |
Q247* |
probably null |
Het |
Fkbp10 |
G |
A |
11: 100,314,757 (GRCm39) |
R423H |
probably benign |
Het |
Fus |
A |
G |
7: 127,580,717 (GRCm39) |
M265V |
probably benign |
Het |
Gas2l3 |
T |
A |
10: 89,250,127 (GRCm39) |
K330N |
probably damaging |
Het |
Gpam |
T |
G |
19: 55,069,901 (GRCm39) |
L410F |
probably damaging |
Het |
Gpr37l1 |
A |
T |
1: 135,089,273 (GRCm39) |
V264E |
possibly damaging |
Het |
Grk6 |
A |
T |
13: 55,600,979 (GRCm39) |
|
probably benign |
Het |
Gsto1 |
G |
T |
19: 47,843,674 (GRCm39) |
V19F |
probably damaging |
Het |
H1f7 |
G |
T |
15: 98,154,016 (GRCm39) |
Q378K |
unknown |
Het |
Hgfac |
G |
A |
5: 35,201,018 (GRCm39) |
C194Y |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,311,407 (GRCm39) |
N1216D |
probably damaging |
Het |
Hrg |
C |
T |
16: 22,769,997 (GRCm39) |
A42V |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,414,824 (GRCm39) |
D136G |
probably benign |
Het |
Kcnn3 |
G |
T |
3: 89,559,397 (GRCm39) |
V556L |
probably benign |
Het |
Klk1b8 |
T |
C |
7: 43,451,545 (GRCm39) |
Y179H |
possibly damaging |
Het |
Klrb1f |
T |
A |
6: 129,031,322 (GRCm39) |
L173* |
probably null |
Het |
Kremen2 |
A |
T |
17: 23,962,373 (GRCm39) |
|
probably null |
Het |
Krt25 |
A |
T |
11: 99,207,378 (GRCm39) |
Y400* |
probably null |
Het |
Lingo4 |
A |
T |
3: 94,310,485 (GRCm39) |
R474S |
probably benign |
Het |
Lnpep |
T |
C |
17: 17,773,575 (GRCm39) |
K599E |
probably benign |
Het |
Mapk8ip3 |
A |
T |
17: 25,155,824 (GRCm39) |
M2K |
possibly damaging |
Het |
Mat2b |
A |
T |
11: 40,570,904 (GRCm39) |
S307T |
probably benign |
Het |
Mcph1 |
C |
A |
8: 18,681,979 (GRCm39) |
A372D |
probably benign |
Het |
Mfsd6 |
T |
A |
1: 52,748,524 (GRCm39) |
I114F |
probably damaging |
Het |
Mlkl |
A |
G |
8: 112,049,380 (GRCm39) |
S248P |
probably damaging |
Het |
Mmrn1 |
A |
T |
6: 60,954,085 (GRCm39) |
T789S |
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,930,916 (GRCm39) |
Y735C |
probably damaging |
Het |
Mrc1 |
T |
A |
2: 14,261,910 (GRCm39) |
Y300N |
probably damaging |
Het |
Mrps11 |
A |
G |
7: 78,442,460 (GRCm39) |
H180R |
probably damaging |
Het |
Msh4 |
T |
C |
3: 153,573,404 (GRCm39) |
D556G |
probably damaging |
Het |
Myh10 |
C |
A |
11: 68,693,122 (GRCm39) |
D1472E |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,492,283 (GRCm39) |
S742P |
probably damaging |
Het |
Nlrp5-ps |
C |
T |
7: 14,316,978 (GRCm39) |
|
noncoding transcript |
Het |
Nrp1 |
C |
T |
8: 129,194,974 (GRCm39) |
P477S |
probably benign |
Het |
Oplah |
G |
T |
15: 76,186,683 (GRCm39) |
C665* |
probably null |
Het |
Or4f14b |
T |
A |
2: 111,775,625 (GRCm39) |
M59L |
probably benign |
Het |
Or4f54 |
T |
C |
2: 111,123,210 (GRCm39) |
V199A |
probably damaging |
Het |
Or51b17 |
T |
C |
7: 103,542,118 (GRCm39) |
S275G |
probably benign |
Het |
Or8g22 |
G |
T |
9: 38,958,678 (GRCm39) |
H57N |
unknown |
Het |
Otogl |
T |
C |
10: 107,619,573 (GRCm39) |
T1696A |
possibly damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,299,855 (GRCm39) |
I242V |
probably benign |
Het |
Phgdh |
G |
A |
3: 98,235,451 (GRCm39) |
T141I |
probably benign |
Het |
Pigv |
T |
C |
4: 133,392,237 (GRCm39) |
Y311C |
probably damaging |
Het |
Pik3c2a |
T |
G |
7: 116,017,755 (GRCm39) |
M1L |
possibly damaging |
Het |
Pitpnm1 |
A |
T |
19: 4,159,960 (GRCm39) |
K760* |
probably null |
Het |
Pnrc1 |
G |
A |
4: 33,246,438 (GRCm39) |
H174Y |
probably damaging |
Het |
Ptgis |
A |
G |
2: 167,033,888 (GRCm39) |
|
probably benign |
Het |
Rin3 |
T |
A |
12: 102,335,589 (GRCm39) |
L420* |
probably null |
Het |
Sacs |
T |
G |
14: 61,442,903 (GRCm39) |
F1650V |
probably damaging |
Het |
Sbno2 |
T |
A |
10: 79,894,342 (GRCm39) |
N1081Y |
possibly damaging |
Het |
Sema5b |
C |
T |
16: 35,466,737 (GRCm39) |
P213L |
probably damaging |
Het |
Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
Skint6 |
T |
A |
4: 113,034,234 (GRCm39) |
|
probably benign |
Het |
Slc4a2 |
A |
G |
5: 24,634,565 (GRCm39) |
E68G |
probably damaging |
Het |
Srcin1 |
C |
T |
11: 97,424,327 (GRCm39) |
V634I |
probably benign |
Het |
Srsf10 |
T |
A |
4: 135,590,476 (GRCm39) |
F134I |
possibly damaging |
Het |
Stab1 |
C |
A |
14: 30,867,260 (GRCm39) |
G1700V |
probably damaging |
Het |
Sun1 |
T |
G |
5: 139,216,544 (GRCm39) |
C290W |
possibly damaging |
Het |
Svs6 |
T |
A |
2: 164,159,577 (GRCm39) |
|
probably benign |
Het |
Tmem8b |
G |
A |
4: 43,690,228 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
G |
17: 47,983,238 (GRCm39) |
D81G |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,848 (GRCm39) |
V296D |
probably benign |
Het |
Vmn1r6 |
T |
A |
6: 56,979,607 (GRCm39) |
S90T |
probably damaging |
Het |
Wbp2 |
A |
G |
11: 115,974,709 (GRCm39) |
F42L |
probably benign |
Het |
Wdr20rt |
C |
T |
12: 65,274,055 (GRCm39) |
T333I |
possibly damaging |
Het |
Zfp341 |
C |
T |
2: 154,483,298 (GRCm39) |
A552V |
probably benign |
Het |
Zfp607b |
A |
T |
7: 27,391,949 (GRCm39) |
H8L |
possibly damaging |
Het |
Zfp758 |
G |
T |
17: 22,594,830 (GRCm39) |
D439Y |
probably damaging |
Het |
Zfp946 |
T |
C |
17: 22,672,538 (GRCm39) |
Y46H |
probably damaging |
Het |
Zic2 |
G |
A |
14: 122,716,359 (GRCm39) |
E432K |
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 |
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 |
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'- CCTCCCCTGCCAGACAGCAT -3'
(R):5'- GTTTGATTCAGGGCACCTCTGACTTTA -3'
Sequencing Primer
(F):5'- CTGCCAGACAGCATAAAATAAAATG -3'
(R):5'- CTTCTTACTCTGATGCTTATTGGGG -3'
|
Posted On |
2014-05-23 |