Incidental Mutation 'IGL02735:Ptpre'
ID |
305628 |
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 # |
IGL02735
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135269296 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 246
(Y246F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147957
(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: Y246F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000073616 Gene: ENSMUSG00000041836 AA Change: Y246F
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: Y266F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209979
AA Change: Y189F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210833
AA Change: Y246F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211092
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211140
AA Change: Y246F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211788
AA Change: Y259F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
Acss1 |
A |
T |
2: 150,480,387 (GRCm39) |
V228E |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 102,992,693 (GRCm39) |
M145K |
probably damaging |
Het |
Ankhd1 |
G |
A |
18: 36,781,599 (GRCm39) |
S2217N |
probably benign |
Het |
Asph |
T |
A |
4: 9,598,759 (GRCm39) |
D211V |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,413 (GRCm39) |
W379R |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,730,950 (GRCm39) |
T201A |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,783,898 (GRCm39) |
L1008P |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,853,522 (GRCm39) |
I363V |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,961,804 (GRCm39) |
F1058L |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,522,583 (GRCm39) |
M3439K |
probably benign |
Het |
Ift140 |
C |
A |
17: 25,253,009 (GRCm39) |
|
probably benign |
Het |
Itgad |
A |
G |
7: 127,792,888 (GRCm39) |
Y832C |
probably damaging |
Het |
Itgb2 |
T |
A |
10: 77,385,833 (GRCm39) |
D265E |
possibly damaging |
Het |
Kif19a |
A |
T |
11: 114,676,393 (GRCm39) |
E449V |
probably damaging |
Het |
Krt40 |
T |
C |
11: 99,429,461 (GRCm39) |
E291G |
probably damaging |
Het |
Lama2 |
T |
C |
10: 26,980,124 (GRCm39) |
N1897S |
probably damaging |
Het |
Lepr |
A |
G |
4: 101,639,835 (GRCm39) |
Y767C |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 80,786,031 (GRCm39) |
H546R |
probably benign |
Het |
Marchf6 |
A |
G |
15: 31,486,266 (GRCm39) |
S362P |
probably benign |
Het |
Med12l |
A |
G |
3: 59,001,067 (GRCm39) |
Y734C |
probably damaging |
Het |
Mrps18a |
C |
T |
17: 46,433,725 (GRCm39) |
R74C |
probably damaging |
Het |
Mvk |
A |
G |
5: 114,588,880 (GRCm39) |
E174G |
probably benign |
Het |
Naip2 |
A |
G |
13: 100,296,722 (GRCm39) |
S1105P |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,221,624 (GRCm39) |
M468V |
probably benign |
Het |
Obscn |
T |
C |
11: 58,984,175 (GRCm39) |
E1760G |
probably damaging |
Het |
Pcsk5 |
C |
A |
19: 17,652,832 (GRCm39) |
G285W |
probably damaging |
Het |
Pgpep1l |
A |
G |
7: 67,886,721 (GRCm39) |
I196T |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,987,611 (GRCm39) |
M630T |
probably benign |
Het |
Plod2 |
T |
C |
9: 92,477,442 (GRCm39) |
|
probably benign |
Het |
Poldip2 |
G |
A |
11: 78,403,162 (GRCm39) |
A9T |
probably benign |
Het |
Pou2f1 |
A |
G |
1: 165,703,396 (GRCm39) |
S718P |
probably damaging |
Het |
Pramel34 |
G |
A |
5: 93,786,503 (GRCm39) |
P89S |
possibly damaging |
Het |
Pudp |
T |
C |
18: 50,701,403 (GRCm39) |
H110R |
probably benign |
Het |
Scaf4 |
C |
T |
16: 90,042,403 (GRCm39) |
G646E |
unknown |
Het |
Sec16a |
T |
A |
2: 26,318,149 (GRCm39) |
|
probably benign |
Het |
Serpina5 |
A |
G |
12: 104,070,116 (GRCm39) |
T338A |
probably benign |
Het |
Shisa5 |
T |
G |
9: 108,885,080 (GRCm39) |
F118V |
probably damaging |
Het |
Slc6a21 |
G |
A |
7: 44,936,061 (GRCm39) |
|
probably benign |
Het |
Sprtn |
T |
A |
8: 125,630,126 (GRCm39) |
V473E |
probably benign |
Het |
Styxl1 |
A |
G |
5: 135,787,996 (GRCm39) |
I165T |
probably damaging |
Het |
Tal2 |
T |
A |
4: 53,785,906 (GRCm39) |
I29N |
probably damaging |
Het |
Tas2r134 |
T |
C |
2: 51,517,839 (GRCm39) |
I106T |
probably damaging |
Het |
Tmem259 |
G |
A |
10: 79,814,973 (GRCm39) |
T217I |
probably damaging |
Het |
Trpc6 |
T |
C |
9: 8,655,339 (GRCm39) |
I723T |
probably damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,036,418 (GRCm39) |
V83D |
probably damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,032,510 (GRCm39) |
M761I |
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,160 (GRCm39) |
I14N |
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 |
IGL02108:Ptpre
|
APN |
7 |
135,260,831 (GRCm39) |
missense |
possibly damaging |
0.85 |
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 |