Incidental Mutation 'RF014:Ptpn4'
ID |
603384 |
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 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
RF014 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
119580197-119765281 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 119612195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000166624]
|
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 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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
Validation Efficiency |
98% (49/50) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,820 (GRCm39) |
|
probably benign |
Het |
A2ml1 |
T |
C |
6: 128,547,031 (GRCm39) |
N366S |
probably damaging |
Het |
Abca5 |
T |
C |
11: 110,170,580 (GRCm39) |
|
probably null |
Het |
Acaca |
T |
C |
11: 84,122,550 (GRCm39) |
V323A |
probably benign |
Het |
Agbl3 |
T |
A |
6: 34,776,293 (GRCm39) |
D266E |
possibly damaging |
Het |
Aggf1 |
A |
T |
13: 95,507,276 (GRCm39) |
S170T |
possibly damaging |
Het |
Amhr2 |
A |
T |
15: 102,361,589 (GRCm39) |
S467C |
probably benign |
Het |
Begain |
GCCGCC |
GCCGCCACCGCC |
12: 108,999,348 (GRCm39) |
|
probably benign |
Het |
Best3 |
A |
T |
10: 116,840,410 (GRCm39) |
Q280L |
probably damaging |
Het |
Calhm1 |
CTGTGGCTGTGG |
CTGTGGCTGTGGGTGTGGCTGTGG |
19: 47,129,704 (GRCm39) |
|
probably benign |
Het |
Ccdc186 |
A |
G |
19: 56,801,904 (GRCm39) |
L71S |
probably benign |
Het |
Ces1d |
C |
A |
8: 93,902,793 (GRCm39) |
|
probably null |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCTGC |
12: 102,527,664 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
T |
A |
6: 124,436,225 (GRCm39) |
K212* |
probably null |
Het |
Col16a1 |
TTTTT |
TTTTTCTTTT |
4: 129,986,860 (GRCm39) |
|
probably benign |
Het |
Cpxm2 |
G |
T |
7: 131,672,592 (GRCm39) |
T319K |
possibly damaging |
Het |
Cyb5r4 |
TGCCCAGGGATGTGACAGACACAC |
TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC |
9: 86,922,468 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
C |
1: 34,286,760 (GRCm39) |
S3364P |
probably benign |
Het |
Edc4 |
C |
T |
8: 106,611,232 (GRCm39) |
T61M |
probably benign |
Het |
Fndc5 |
A |
G |
4: 129,035,960 (GRCm39) |
H199R |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,422,623 (GRCm39) |
I470F |
possibly damaging |
Het |
Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
Igkv12-89 |
G |
GCAACGCCAC |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
Irf9 |
C |
T |
14: 55,843,334 (GRCm39) |
R179* |
probably null |
Het |
Jakmip1 |
A |
T |
5: 37,331,870 (GRCm39) |
K850M |
possibly damaging |
Het |
Kalrn |
G |
A |
16: 33,860,303 (GRCm39) |
T1884I |
probably benign |
Het |
Krtap28-10 |
CCACCACAGCCACAGCCACCACAGCCACAG |
CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG |
1: 83,019,972 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTCCTCCTTCTCCTCTTCCTC |
CTCCTC |
X: 94,984,263 (GRCm39) |
|
probably benign |
Het |
Lctl |
A |
G |
9: 64,026,212 (GRCm39) |
Y89C |
probably damaging |
Het |
Lpgat1 |
GCC |
GCCTCC |
1: 191,450,665 (GRCm39) |
|
probably benign |
Het |
Luzp2 |
A |
T |
7: 54,821,953 (GRCm39) |
I157F |
probably damaging |
Het |
Lyz3 |
A |
G |
10: 117,070,322 (GRCm39) |
*152Q |
probably null |
Het |
Mamld1 |
GCA |
GCACCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
Mbd3l1 |
A |
T |
9: 18,396,296 (GRCm39) |
E140D |
possibly damaging |
Het |
Mlh3 |
T |
A |
12: 85,314,803 (GRCm39) |
Q461L |
probably benign |
Het |
Mto1 |
G |
T |
9: 78,355,598 (GRCm39) |
R7L |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,570,676 (GRCm39) |
S579C |
probably damaging |
Het |
Ngfr |
T |
C |
11: 95,469,027 (GRCm39) |
Y117C |
probably damaging |
Het |
Or10aa3 |
A |
T |
1: 173,878,553 (GRCm39) |
I205F |
possibly damaging |
Het |
Or13a23-ps1 |
A |
T |
7: 140,118,690 (GRCm39) |
M87L |
probably benign |
Het |
Or8d2b |
C |
A |
9: 38,789,196 (GRCm39) |
H241Q |
probably benign |
Het |
Plch2 |
A |
G |
4: 155,091,577 (GRCm39) |
S179P |
probably damaging |
Het |
Pogz |
T |
G |
3: 94,785,558 (GRCm39) |
S838A |
possibly damaging |
Het |
Polr1has |
CACCACCACCAC |
CACCACCACCACCACCACCACGACCACCACCAC |
17: 37,275,952 (GRCm39) |
|
probably benign |
Het |
Pot1b |
T |
A |
17: 55,981,106 (GRCm39) |
T303S |
probably benign |
Het |
Pou2f2 |
T |
A |
7: 24,815,162 (GRCm39) |
I72L |
unknown |
Het |
Ptprs |
A |
T |
17: 56,723,935 (GRCm39) |
I1686N |
probably damaging |
Het |
Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
Rnf14 |
T |
A |
18: 38,442,623 (GRCm39) |
V308E |
probably damaging |
Het |
Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,518 (GRCm39) |
|
probably benign |
Het |
Sgo2b |
T |
C |
8: 64,384,439 (GRCm39) |
T186A |
possibly damaging |
Het |
Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
Spmap2l |
CAGCGATCCTCCCCAGTCCCGCA |
CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA |
5: 77,164,247 (GRCm39) |
|
probably benign |
Het |
Stox1 |
T |
A |
10: 62,500,025 (GRCm39) |
H845L |
probably benign |
Het |
Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
Trim33 |
T |
C |
3: 103,236,408 (GRCm39) |
V506A |
possibly damaging |
Het |
Uckl1 |
T |
C |
2: 181,211,987 (GRCm39) |
D373G |
probably benign |
Het |
Vmn2r94 |
G |
T |
17: 18,473,549 (GRCm39) |
C492* |
probably null |
Het |
Wdr33 |
A |
G |
18: 32,014,326 (GRCm39) |
D396G |
probably damaging |
Het |
Ypel1 |
C |
T |
16: 16,915,282 (GRCm39) |
V109M |
probably damaging |
Het |
Zbtb11 |
A |
T |
16: 55,800,960 (GRCm39) |
I105L |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,744,617 (GRCm39) |
C268S |
probably benign |
Het |
Zfp36l1 |
T |
A |
12: 80,156,518 (GRCm39) |
M288L |
probably benign |
Het |
Zfp384 |
CC |
CCAAGGCCCAGGAC |
6: 125,013,429 (GRCm39) |
|
probably benign |
Het |
Zfp87 |
A |
G |
13: 74,523,173 (GRCm39) |
F15S |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACGACATCTTCCTGCATAGC -3'
(R):5'- TTGTTTCCTACACAAAGGCACC -3'
Sequencing Primer
(F):5'- GGTGGCTCACAACCATCTGTAATG -3'
(R):5'- AAGGCACCAATCAGATATAATGC -3'
|
Posted On |
2019-12-04 |