Incidental Mutation 'IGL01456:Ptpre'
ID |
84785 |
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: 0.793)
|
Stock # |
IGL01456
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 135271531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 375
(V375G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147524
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073961]
[ENSMUST00000209256]
[ENSMUST00000209979]
[ENSMUST00000210833]
[ENSMUST00000211140]
[ENSMUST00000211788]
|
AlphaFold |
P49446 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073961
AA Change: V362G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073616 Gene: ENSMUSG00000041836 AA Change: V362G
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 |
probably damaging
Transcript: ENSMUST00000209256
AA Change: V382G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209979
AA Change: V305G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210833
AA Change: V362G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211092
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211140
AA Change: V362G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211788
AA Change: V375G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
Akap13 |
T |
C |
7: 75,252,595 (GRCm39) |
C242R |
probably damaging |
Het |
Ap5z1 |
T |
C |
5: 142,453,791 (GRCm39) |
L175P |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,341,510 (GRCm39) |
E938G |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,114,036 (GRCm39) |
N208D |
probably benign |
Het |
Atr |
A |
G |
9: 95,832,618 (GRCm39) |
H2556R |
possibly damaging |
Het |
Cald1 |
A |
T |
6: 34,741,931 (GRCm39) |
D438V |
probably damaging |
Het |
Dcbld2 |
C |
T |
16: 58,229,236 (GRCm39) |
P40S |
possibly damaging |
Het |
Dock8 |
G |
A |
19: 25,096,863 (GRCm39) |
M590I |
possibly damaging |
Het |
Gm1818 |
A |
T |
12: 48,602,583 (GRCm39) |
|
noncoding transcript |
Het |
Hace1 |
A |
G |
10: 45,586,094 (GRCm39) |
|
probably benign |
Het |
Igkv10-96 |
A |
G |
6: 68,609,086 (GRCm39) |
Y70H |
probably benign |
Het |
Kdm2a |
G |
T |
19: 4,401,783 (GRCm39) |
H200Q |
probably damaging |
Het |
Ldha |
A |
G |
7: 46,499,602 (GRCm39) |
D111G |
possibly damaging |
Het |
Map7 |
A |
G |
10: 20,149,550 (GRCm39) |
E567G |
unknown |
Het |
Nbeal1 |
G |
T |
1: 60,269,787 (GRCm39) |
L375F |
probably damaging |
Het |
Nectin3 |
T |
C |
16: 46,279,216 (GRCm39) |
E254G |
probably benign |
Het |
Nlrp4b |
A |
T |
7: 10,448,150 (GRCm39) |
I118F |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,269,683 (GRCm39) |
V3287D |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,431,187 (GRCm39) |
E746G |
probably damaging |
Het |
Sh2b2 |
C |
T |
5: 136,253,321 (GRCm39) |
C311Y |
probably damaging |
Het |
Skor1 |
G |
A |
9: 63,052,772 (GRCm39) |
T399I |
probably damaging |
Het |
Sptbn2 |
A |
G |
19: 4,796,777 (GRCm39) |
T1792A |
probably damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tln1 |
G |
A |
4: 43,543,432 (GRCm39) |
|
probably benign |
Het |
Tmc7 |
C |
A |
7: 118,146,533 (GRCm39) |
|
probably benign |
Het |
Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
Tpte |
A |
G |
8: 22,835,068 (GRCm39) |
|
probably benign |
Het |
Unc13a |
G |
A |
8: 72,097,211 (GRCm39) |
R1228W |
probably damaging |
Het |
Vipr1 |
C |
T |
9: 121,494,244 (GRCm39) |
T275M |
probably damaging |
Het |
Vmn1r177 |
G |
T |
7: 23,565,753 (GRCm39) |
P41Q |
possibly damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
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 |
IGL01516:Ptpre
|
APN |
7 |
135,266,728 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02108:Ptpre
|
APN |
7 |
135,260,831 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |
2013-11-11 |