Incidental Mutation 'IGL02108:Ptpre'
| ID |
280040 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptpre
|
| Ensembl Gene |
ENSMUSG00000041836 |
| Gene Name |
protein tyrosine phosphatase receptor type E |
| Synonyms |
RPTPepsilon, PTPepsilon, PTPe |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.785)
|
| Stock # |
IGL02108
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135260831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 156
(E156V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073961]
[ENSMUST00000209256]
[ENSMUST00000209979]
[ENSMUST00000210833]
[ENSMUST00000211140]
[ENSMUST00000211788]
|
| AlphaFold |
P49446 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073961
AA Change: E156V
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: E156V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
PTPc
|
133 |
395 |
4.65e-136 |
SMART |
|
PTPc
|
424 |
690 |
7.36e-116 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209256
AA Change: E176V
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209979
AA Change: E99V
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210833
AA Change: E156V
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211092
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211140
AA Change: E156V
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211788
AA Change: E169V
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| 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. Several alternatively spliced transcript variants of this gene have been reported, at least two of which encode a receptor-type PTP that possesses a short extracellular domain, a single transmembrane region, and two tandem intracytoplasmic catalytic domains; another one encodes a PTP that contains a distinct hydrophilic N-terminus, and thus represents a nonreceptor-type isoform of this PTP. Studies of the similar gene in mice suggested the regulatory roles of this PTP in RAS related signal transduction pathways, cytokine-induced SATA signaling, as well as the activation of voltage-gated K+ channels. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early-onset peripheral myelination defects, increased activity of voltage-gated potassium channels in Schwann cells, and increased trabecular bone mass due to cell-specific defects in osteoclast function in young females. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
C |
8: 56,325,346 (GRCm39) |
I369M |
probably damaging |
Het |
| Aff1 |
T |
G |
5: 103,958,975 (GRCm39) |
|
probably null |
Het |
| Arid1a |
G |
T |
4: 133,407,827 (GRCm39) |
P2227T |
unknown |
Het |
| Atp12a |
A |
T |
14: 56,621,525 (GRCm39) |
D720V |
possibly damaging |
Het |
| Auh |
T |
C |
13: 53,043,133 (GRCm39) |
|
probably benign |
Het |
| Bptf |
C |
A |
11: 106,965,814 (GRCm39) |
V1012L |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,407,087 (GRCm39) |
F268L |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,555 (GRCm39) |
D219G |
probably damaging |
Het |
| Ccnb1 |
C |
T |
13: 100,917,665 (GRCm39) |
|
probably null |
Het |
| Cdh19 |
G |
T |
1: 110,817,461 (GRCm39) |
S760R |
probably benign |
Het |
| Cecr2 |
G |
A |
6: 120,739,519 (GRCm39) |
|
probably null |
Het |
| Chid1 |
A |
T |
7: 141,112,841 (GRCm39) |
M1K |
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,348,143 (GRCm39) |
T208A |
probably benign |
Het |
| Ecm2 |
T |
A |
13: 49,671,920 (GRCm39) |
Y140* |
probably null |
Het |
| Enox2 |
A |
G |
X: 48,102,393 (GRCm39) |
L533S |
possibly damaging |
Het |
| Fntb |
A |
G |
12: 76,934,631 (GRCm39) |
E167G |
possibly damaging |
Het |
| Gpihbp1 |
T |
C |
15: 75,469,461 (GRCm39) |
V92A |
probably benign |
Het |
| Grsf1 |
C |
T |
5: 88,813,762 (GRCm39) |
R329Q |
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,035,249 (GRCm39) |
D370V |
probably benign |
Het |
| H2ac4 |
T |
C |
13: 23,935,207 (GRCm39) |
V31A |
probably benign |
Het |
| Klhl14 |
T |
A |
18: 21,690,977 (GRCm39) |
Y491F |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,014,530 (GRCm39) |
Q563L |
probably damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,617 (GRCm39) |
L124Q |
probably damaging |
Het |
| Mbl1 |
T |
C |
14: 40,875,608 (GRCm39) |
S21P |
possibly damaging |
Het |
| Myrip |
G |
A |
9: 120,296,631 (GRCm39) |
|
probably null |
Het |
| Nmur2 |
T |
C |
11: 55,931,190 (GRCm39) |
T174A |
probably benign |
Het |
| Odf1 |
C |
A |
15: 38,226,623 (GRCm39) |
Y174* |
probably null |
Het |
| Optn |
A |
G |
2: 5,036,084 (GRCm39) |
V466A |
possibly damaging |
Het |
| Or5m12 |
A |
T |
2: 85,734,494 (GRCm39) |
D301E |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,234 (GRCm39) |
V40E |
possibly damaging |
Het |
| Or8g54 |
A |
T |
9: 39,706,808 (GRCm39) |
I46F |
probably damaging |
Het |
| Pde9a |
G |
A |
17: 31,680,667 (GRCm39) |
S316N |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,869,032 (GRCm39) |
I672K |
probably damaging |
Het |
| Pklr |
A |
T |
3: 89,044,710 (GRCm39) |
I63F |
probably damaging |
Het |
| Plet1 |
T |
C |
9: 50,410,387 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,822,433 (GRCm39) |
D211V |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,542,494 (GRCm39) |
W384R |
probably damaging |
Het |
| Prdm11 |
T |
C |
2: 92,806,048 (GRCm39) |
I301V |
probably damaging |
Het |
| Prkar1a |
C |
T |
11: 109,558,351 (GRCm39) |
R357C |
probably damaging |
Het |
| Ptchd1 |
T |
C |
X: 154,356,548 (GRCm39) |
T886A |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,482,478 (GRCm39) |
T1032A |
probably damaging |
Het |
| Rras2 |
A |
G |
7: 113,659,623 (GRCm39) |
I47T |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Sh3rf3 |
T |
A |
10: 58,971,650 (GRCm39) |
V826E |
probably damaging |
Het |
| Tmem127 |
T |
A |
2: 127,099,026 (GRCm39) |
S132T |
probably damaging |
Het |
| Tnrc6c |
C |
A |
11: 117,612,025 (GRCm39) |
P221Q |
probably benign |
Het |
| Tstd3 |
A |
T |
4: 21,759,366 (GRCm39) |
|
probably benign |
Het |
| Usp46 |
T |
G |
5: 74,189,867 (GRCm39) |
T55P |
probably damaging |
Het |
|
| Other mutations in Ptpre |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00918:Ptpre
|
APN |
7 |
135,260,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01019:Ptpre
|
APN |
7 |
135,280,054 (GRCm39) |
nonsense |
probably null |
|
|
IGL01115:Ptpre
|
APN |
7 |
135,272,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01456:Ptpre
|
APN |
7 |
135,271,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01516:Ptpre
|
APN |
7 |
135,266,728 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02735:Ptpre
|
APN |
7 |
135,269,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03326:Ptpre
|
APN |
7 |
135,274,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03327:Ptpre
|
APN |
7 |
135,274,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0183:Ptpre
|
UTSW |
7 |
135,271,574 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0369:Ptpre
|
UTSW |
7 |
135,272,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Ptpre
|
UTSW |
7 |
135,265,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0762:Ptpre
|
UTSW |
7 |
135,280,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1169:Ptpre
|
UTSW |
7 |
135,269,341 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1214:Ptpre
|
UTSW |
7 |
135,280,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Ptpre
|
UTSW |
7 |
135,271,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Ptpre
|
UTSW |
7 |
135,255,657 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1819:Ptpre
|
UTSW |
7 |
135,270,722 (GRCm39) |
splice site |
probably benign |
|
|
R1876:Ptpre
|
UTSW |
7 |
135,280,046 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2049:Ptpre
|
UTSW |
7 |
135,272,424 (GRCm39) |
splice site |
probably benign |
|
|
R2284:Ptpre
|
UTSW |
7 |
135,271,510 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2895:Ptpre
|
UTSW |
7 |
135,245,587 (GRCm39) |
nonsense |
probably null |
|
|
R4508:Ptpre
|
UTSW |
7 |
135,270,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Ptpre
|
UTSW |
7 |
135,269,372 (GRCm39) |
nonsense |
probably null |
|
|
R4644:Ptpre
|
UTSW |
7 |
135,253,661 (GRCm39) |
intron |
probably benign |
|
|
R4863:Ptpre
|
UTSW |
7 |
135,270,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4989:Ptpre
|
UTSW |
7 |
135,270,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5015:Ptpre
|
UTSW |
7 |
135,270,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5133:Ptpre
|
UTSW |
7 |
135,270,861 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5134:Ptpre
|
UTSW |
7 |
135,253,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5291:Ptpre
|
UTSW |
7 |
135,280,030 (GRCm39) |
missense |
probably benign |
|
|
R5372:Ptpre
|
UTSW |
7 |
135,255,669 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5653:Ptpre
|
UTSW |
7 |
135,255,672 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5896:Ptpre
|
UTSW |
7 |
135,276,007 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6238:Ptpre
|
UTSW |
7 |
135,272,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6974:Ptpre
|
UTSW |
7 |
135,270,877 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7125:Ptpre
|
UTSW |
7 |
135,255,744 (GRCm39) |
nonsense |
probably null |
|
|
R7298:Ptpre
|
UTSW |
7 |
135,285,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Ptpre
|
UTSW |
7 |
135,139,803 (GRCm39) |
missense |
unknown |
|
|
R7459:Ptpre
|
UTSW |
7 |
135,269,329 (GRCm39) |
missense |
probably benign |
|
|
R7855:Ptpre
|
UTSW |
7 |
135,253,724 (GRCm39) |
missense |
probably benign |
|
|
R7970:Ptpre
|
UTSW |
7 |
135,280,048 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8003:Ptpre
|
UTSW |
7 |
135,270,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8768:Ptpre
|
UTSW |
7 |
135,283,306 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9109:Ptpre
|
UTSW |
7 |
135,271,508 (GRCm39) |
missense |
probably benign |
|
|
R9131:Ptpre
|
UTSW |
7 |
135,280,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Ptpre
|
UTSW |
7 |
135,274,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9541:Ptpre
|
UTSW |
7 |
135,266,740 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Posted On |
2015-04-16 |
Incidental Mutation