Incidental Mutation 'R6389:Ptpn4'
ID |
515663 |
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 |
044538-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.257)
|
Stock # |
R6389 (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 A
at 119649684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 304
(H304L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064091]
[ENSMUST00000163179]
[ENSMUST00000163435]
|
AlphaFold |
Q9WU22 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064091
AA Change: H304L
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000067614 Gene: ENSMUSG00000026384 AA Change: H304L
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: H304L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127713 Gene: ENSMUSG00000026384 AA Change: H304L
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
100% (57/57) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
C |
7: 43,147,254 (GRCm39) |
L326R |
possibly damaging |
Het |
Abcb11 |
A |
T |
2: 69,154,238 (GRCm39) |
N109K |
probably damaging |
Het |
Actn1 |
T |
A |
12: 80,221,296 (GRCm39) |
M586L |
probably benign |
Het |
Ago4 |
T |
A |
4: 126,401,037 (GRCm39) |
I603F |
probably damaging |
Het |
Bicc1 |
A |
T |
10: 70,794,752 (GRCm39) |
V135D |
probably damaging |
Het |
Bms1 |
T |
C |
6: 118,380,196 (GRCm39) |
N704D |
possibly damaging |
Het |
Cadm4 |
A |
C |
7: 24,198,959 (GRCm39) |
Q78P |
probably benign |
Het |
Cfap74 |
T |
C |
4: 155,507,793 (GRCm39) |
I248T |
possibly damaging |
Het |
Clu |
G |
C |
14: 66,208,771 (GRCm39) |
|
probably benign |
Het |
Cnnm3 |
T |
C |
1: 36,559,603 (GRCm39) |
V514A |
probably damaging |
Het |
Cntd1 |
A |
T |
11: 101,176,577 (GRCm39) |
I225F |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,634,376 (GRCm39) |
|
probably null |
Het |
Ctnnal1 |
A |
G |
4: 56,813,849 (GRCm39) |
V640A |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,190,278 (GRCm39) |
T572A |
probably benign |
Het |
D16Ertd472e |
A |
G |
16: 78,342,071 (GRCm39) |
S270P |
probably damaging |
Het |
Dmp1 |
A |
T |
5: 104,360,788 (GRCm39) |
N488I |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,478,767 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,232,265 (GRCm39) |
L3464P |
probably damaging |
Het |
Fnbp4 |
C |
T |
2: 90,575,879 (GRCm39) |
P27S |
unknown |
Het |
Fpr-rs3 |
A |
T |
17: 20,844,230 (GRCm39) |
F304I |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,928,734 (GRCm39) |
Q108R |
unknown |
Het |
Hcn3 |
C |
T |
3: 89,058,240 (GRCm39) |
A339T |
possibly damaging |
Het |
Inpp5f |
A |
G |
7: 128,279,780 (GRCm39) |
D460G |
probably damaging |
Het |
Ism2 |
T |
C |
12: 87,329,145 (GRCm39) |
E253G |
possibly damaging |
Het |
Klrg1 |
T |
C |
6: 122,248,431 (GRCm39) |
N156S |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,552,907 (GRCm39) |
N5S |
probably benign |
Het |
Lrrc7 |
T |
G |
3: 157,891,063 (GRCm39) |
E368A |
probably damaging |
Het |
Ly9 |
G |
C |
1: 171,424,105 (GRCm39) |
S482C |
probably damaging |
Het |
Map3k1 |
T |
C |
13: 111,905,975 (GRCm39) |
D289G |
probably damaging |
Het |
Mcub |
T |
C |
3: 129,712,357 (GRCm39) |
T173A |
probably benign |
Het |
Mup16 |
T |
C |
4: 61,437,177 (GRCm39) |
E48G |
probably damaging |
Het |
Naf1 |
C |
T |
8: 67,313,680 (GRCm39) |
S24L |
possibly damaging |
Het |
Ncoa6 |
A |
G |
2: 155,237,736 (GRCm39) |
S2024P |
probably damaging |
Het |
Nop56 |
C |
A |
2: 130,119,807 (GRCm39) |
Q83K |
probably damaging |
Het |
Nt5e |
T |
C |
9: 88,245,524 (GRCm39) |
Y265H |
probably damaging |
Het |
Odad1 |
G |
T |
7: 45,597,940 (GRCm39) |
V617F |
probably benign |
Het |
Or4a27 |
A |
G |
2: 88,559,016 (GRCm39) |
V309A |
probably benign |
Het |
Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
Or5w8 |
C |
T |
2: 87,688,367 (GRCm39) |
P283S |
probably damaging |
Het |
Oxct2a |
T |
A |
4: 123,217,220 (GRCm39) |
K54* |
probably null |
Het |
Oxct2b |
G |
T |
4: 123,010,367 (GRCm39) |
D96Y |
probably benign |
Het |
Pisd |
A |
G |
5: 32,922,191 (GRCm39) |
Y250H |
probably damaging |
Het |
Plekhm1 |
G |
T |
11: 103,257,720 (GRCm39) |
N1071K |
probably benign |
Het |
Prr11 |
G |
A |
11: 86,989,564 (GRCm39) |
T269I |
possibly damaging |
Het |
Rrp1b |
A |
G |
17: 32,275,601 (GRCm39) |
K383E |
possibly damaging |
Het |
Sel1l2 |
C |
A |
2: 140,087,274 (GRCm39) |
A466S |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,619,844 (GRCm39) |
I57V |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,977,137 (GRCm39) |
E81G |
probably damaging |
Het |
Tbr1 |
A |
G |
2: 61,636,631 (GRCm39) |
|
probably benign |
Het |
Tnrc6c |
A |
G |
11: 117,613,567 (GRCm39) |
D735G |
probably damaging |
Het |
Tspan17 |
A |
T |
13: 54,943,429 (GRCm39) |
|
probably null |
Het |
Tyw5 |
T |
C |
1: 57,430,658 (GRCm39) |
K175R |
probably damaging |
Het |
Ube2o |
A |
C |
11: 116,439,684 (GRCm39) |
I162R |
probably null |
Het |
Ubr1 |
G |
T |
2: 120,711,520 (GRCm39) |
T1458K |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,478,344 (GRCm39) |
Q33L |
probably benign |
Het |
Zfp1007 |
G |
A |
5: 109,823,885 (GRCm39) |
P522S |
possibly damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,552 (GRCm39) |
L238P |
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 |
|
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'- CTCAGTAGGTTTTGCAACTAACCATG -3'
(R):5'- GCATTTACAAGGCTGGTATAACTTATC -3'
Sequencing Primer
(F):5'- AGCCAGTACTCTTAACCTGTGAG -3'
(R):5'- GGCTGGTATAACTTATCTGTCAAAAG -3'
|
Posted On |
2018-05-04 |