Incidental Mutation 'R7459:Ptpn4'
ID |
578286 |
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 |
045533-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.291)
|
Stock # |
R7459 (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 A
at 119587564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 926
(K926N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000166624]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064091
AA Change: K926N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: K926N
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre1 |
T |
A |
17: 57,756,933 (GRCm39) |
V730E |
probably damaging |
Het |
Agbl1 |
G |
A |
7: 76,069,814 (GRCm39) |
D449N |
not run |
Het |
Agr2 |
A |
T |
12: 36,047,452 (GRCm39) |
E96V |
probably benign |
Het |
Atp1a2 |
A |
C |
1: 172,114,862 (GRCm39) |
S308A |
probably benign |
Het |
Birc7 |
T |
C |
2: 180,571,150 (GRCm39) |
S71P |
possibly damaging |
Het |
Brme1 |
T |
G |
8: 84,893,981 (GRCm39) |
S383A |
probably benign |
Het |
Camk2g |
T |
C |
14: 20,829,275 (GRCm39) |
I73V |
probably damaging |
Het |
Carf |
C |
A |
1: 60,167,198 (GRCm39) |
T177K |
possibly damaging |
Het |
Ccdc191 |
C |
T |
16: 43,767,820 (GRCm39) |
Q665* |
probably null |
Het |
Cd79a |
A |
T |
7: 24,598,567 (GRCm39) |
T39S |
possibly damaging |
Het |
Ces5a |
C |
A |
8: 94,262,369 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
C |
A |
3: 131,880,790 (GRCm39) |
T145N |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,609,007 (GRCm39) |
A188V |
probably damaging |
Het |
Egfr |
T |
A |
11: 16,846,967 (GRCm39) |
V788D |
probably damaging |
Het |
Esyt3 |
T |
A |
9: 99,240,117 (GRCm39) |
H109L |
probably benign |
Het |
Fam234b |
C |
T |
6: 135,188,899 (GRCm39) |
T168I |
probably benign |
Het |
Fan1 |
G |
T |
7: 63,998,714 (GRCm39) |
S936Y |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,194,745 (GRCm39) |
E1098G |
probably damaging |
Het |
Fcgbp |
A |
G |
7: 27,806,710 (GRCm39) |
D2226G |
possibly damaging |
Het |
Flacc1 |
T |
G |
1: 58,730,911 (GRCm39) |
E48D |
possibly damaging |
Het |
Flvcr2 |
T |
C |
12: 85,793,831 (GRCm39) |
V69A |
probably benign |
Het |
Foxb2 |
T |
A |
19: 16,850,436 (GRCm39) |
H190L |
unknown |
Het |
Fut4 |
C |
T |
9: 14,662,602 (GRCm39) |
V231M |
possibly damaging |
Het |
Gtf2a1 |
G |
A |
12: 91,542,426 (GRCm39) |
A91V |
probably benign |
Het |
Hip1 |
A |
G |
5: 135,443,151 (GRCm39) |
S961P |
probably damaging |
Het |
Hsf2bp |
C |
T |
17: 32,165,708 (GRCm39) |
V296M |
probably benign |
Het |
Hspbp1 |
G |
T |
7: 4,687,577 (GRCm39) |
H11Q |
probably benign |
Het |
Ighv1-84 |
C |
T |
12: 115,944,432 (GRCm39) |
E81K |
probably benign |
Het |
Isg20l2 |
T |
C |
3: 87,839,485 (GRCm39) |
L232P |
possibly damaging |
Het |
Isx |
A |
G |
8: 75,619,392 (GRCm39) |
Y181C |
probably benign |
Het |
Kif9 |
A |
G |
9: 110,348,109 (GRCm39) |
Y644C |
probably damaging |
Het |
Lin7c |
T |
A |
2: 109,727,682 (GRCm39) |
V177D |
probably benign |
Het |
Lpin3 |
T |
C |
2: 160,739,220 (GRCm39) |
S343P |
probably benign |
Het |
Mat1a |
A |
T |
14: 40,842,141 (GRCm39) |
Q246L |
probably benign |
Het |
Mlkl |
T |
C |
8: 112,060,162 (GRCm39) |
I75V |
probably benign |
Het |
Ndufa7 |
T |
A |
17: 34,057,140 (GRCm39) |
S107T |
probably damaging |
Het |
Niban3 |
T |
A |
8: 72,057,671 (GRCm39) |
C516S |
possibly damaging |
Het |
Nip7 |
T |
A |
8: 107,783,968 (GRCm39) |
C69* |
probably null |
Het |
Nipa2 |
A |
T |
7: 55,583,089 (GRCm39) |
W219R |
probably damaging |
Het |
Oas2 |
A |
C |
5: 120,887,775 (GRCm39) |
S22A |
unknown |
Het |
Obscn |
A |
G |
11: 59,022,483 (GRCm39) |
V754A |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,461,012 (GRCm39) |
P77S |
probably damaging |
Het |
Osbpl1a |
C |
T |
18: 13,066,642 (GRCm39) |
C39Y |
probably damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,612,606 (GRCm39) |
Y522F |
probably benign |
Het |
Pced1a |
T |
G |
2: 130,261,744 (GRCm39) |
D303A |
possibly damaging |
Het |
Peli1 |
T |
A |
11: 21,098,190 (GRCm39) |
Y308* |
probably null |
Het |
Pfas |
T |
A |
11: 68,879,481 (GRCm39) |
R243W |
|
Het |
Pik3r5 |
C |
A |
11: 68,383,416 (GRCm39) |
Q412K |
probably benign |
Het |
Pkd1l1 |
A |
T |
11: 8,852,428 (GRCm39) |
I1135N |
|
Het |
Prune1 |
C |
A |
3: 95,189,021 (GRCm39) |
|
probably benign |
Het |
Ptpre |
A |
G |
7: 135,269,329 (GRCm39) |
N277S |
probably benign |
Het |
Raver2 |
A |
T |
4: 100,964,410 (GRCm39) |
D255V |
possibly damaging |
Het |
Rgs20 |
A |
G |
1: 4,980,857 (GRCm39) |
V187A |
probably benign |
Het |
Rgs3 |
A |
G |
4: 62,543,391 (GRCm39) |
E242G |
probably benign |
Het |
Rims2 |
T |
G |
15: 39,381,235 (GRCm39) |
S1055R |
probably benign |
Het |
Rnf146 |
T |
C |
10: 29,223,640 (GRCm39) |
D82G |
probably benign |
Het |
Rpgrip1 |
A |
G |
14: 52,378,016 (GRCm39) |
S455G |
probably benign |
Het |
Samm50 |
T |
C |
15: 84,080,057 (GRCm39) |
|
probably null |
Het |
Sh3bgr |
A |
G |
16: 96,007,122 (GRCm39) |
K31E |
probably benign |
Het |
Slc39a8 |
T |
C |
3: 135,592,672 (GRCm39) |
I449T |
probably damaging |
Het |
Slc5a3 |
A |
T |
16: 91,875,905 (GRCm39) |
Y654F |
probably benign |
Het |
Spata1 |
T |
A |
3: 146,181,977 (GRCm39) |
L264F |
possibly damaging |
Het |
Spats2l |
A |
T |
1: 57,838,512 (GRCm39) |
|
probably benign |
Het |
Stard13 |
A |
C |
5: 150,971,064 (GRCm39) |
S848A |
probably damaging |
Het |
Stat2 |
A |
G |
10: 128,112,434 (GRCm39) |
S25G |
possibly damaging |
Het |
Tet2 |
C |
T |
3: 133,186,050 (GRCm39) |
R1129Q |
possibly damaging |
Het |
Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
Tmem266 |
T |
C |
9: 55,303,883 (GRCm39) |
L3P |
unknown |
Het |
Tns3 |
A |
T |
11: 8,442,793 (GRCm39) |
D523E |
probably benign |
Het |
Trim3 |
A |
T |
7: 105,267,015 (GRCm39) |
S455T |
probably damaging |
Het |
Trim31 |
T |
C |
17: 37,220,554 (GRCm39) |
V490A |
probably damaging |
Het |
Trmt11 |
A |
C |
10: 30,466,039 (GRCm39) |
N168K |
probably benign |
Het |
Trpc4 |
G |
A |
3: 54,198,653 (GRCm39) |
V526M |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,749,482 (GRCm39) |
D3856Y |
possibly damaging |
Het |
Tulp2 |
G |
A |
7: 45,169,227 (GRCm39) |
D377N |
probably damaging |
Het |
Ubl7 |
A |
G |
9: 57,821,875 (GRCm39) |
T75A |
probably damaging |
Het |
Ugt2b34 |
T |
G |
5: 87,049,134 (GRCm39) |
D297A |
possibly damaging |
Het |
Usp34 |
A |
T |
11: 23,314,458 (GRCm39) |
H800L |
possibly damaging |
Het |
Utp3 |
C |
A |
5: 88,703,412 (GRCm39) |
L314M |
probably damaging |
Het |
Zer1 |
A |
G |
2: 30,003,337 (GRCm39) |
Y27H |
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 |
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'- TCGTCGTTCAGAGCAAAGC -3'
(R):5'- GGTAAAACTTCTAACTCCGTTCTG -3'
Sequencing Primer
(F):5'- TGGTCAACCATGTGAGTAATAGG -3'
(R):5'- AACTCCGTTCTGTTTCATGTTTTAAG -3'
|
Posted On |
2019-10-07 |