Incidental Mutation 'R7125:Ptpre'
| ID |
552269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpre
|
| Ensembl Gene |
ENSMUSG00000041836 |
| Gene Name |
protein tyrosine phosphatase receptor type E |
| Synonyms |
RPTPepsilon, PTPepsilon, PTPe |
| MMRRC Submission |
045327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.785)
|
| Stock # |
R7125 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 135255744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 155
(R155*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073961]
[ENSMUST00000209256]
[ENSMUST00000209979]
[ENSMUST00000210833]
[ENSMUST00000211140]
[ENSMUST00000211788]
|
| AlphaFold |
P49446 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073961
AA Change: R135*
|
| SMART Domains |
Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: R135*
| 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 null
Transcript: ENSMUST00000209256
AA Change: R155*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209979
AA Change: R78*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210833
AA Change: R135*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211140
AA Change: R135*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211788
AA Change: R148*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
96% (48/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
T |
11: 80,255,751 (GRCm39) |
C296S |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,264,145 (GRCm39) |
I354V |
probably null |
Het |
| Aldh1l1 |
G |
A |
6: 90,553,761 (GRCm39) |
|
probably null |
Het |
| Ankrd49 |
TAA |
TA |
9: 14,693,836 (GRCm39) |
|
probably null |
Het |
| B3gnt7 |
A |
G |
1: 86,233,099 (GRCm39) |
Y115C |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,602,510 (GRCm39) |
M1506K |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,138,510 (GRCm39) |
T226A |
probably benign |
Het |
| Ccdc28b |
T |
A |
4: 129,514,885 (GRCm39) |
T75S |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,372,321 (GRCm39) |
I1436V |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,408,593 (GRCm39) |
Y1320* |
probably null |
Het |
| Cntnap2 |
A |
T |
6: 46,965,580 (GRCm39) |
Y797F |
probably benign |
Het |
| Coq8a |
T |
A |
1: 179,996,366 (GRCm39) |
N490I |
probably damaging |
Het |
| Csmd2 |
T |
C |
4: 128,389,955 (GRCm39) |
L2230P |
|
Het |
| Cyp4a14 |
A |
T |
4: 115,348,358 (GRCm39) |
I373N |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,293,864 (GRCm39) |
S86P |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,405,140 (GRCm39) |
I298F |
possibly damaging |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,327,008 (GRCm39) |
T3533A |
probably damaging |
Het |
| Fam53b |
T |
C |
7: 132,373,357 (GRCm39) |
H27R |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,789,631 (GRCm39) |
T635A |
probably benign |
Het |
| Fyb1 |
G |
A |
15: 6,674,337 (GRCm39) |
E658K |
possibly damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,585,612 (GRCm39) |
S996G |
probably benign |
Het |
| Gm47959 |
G |
A |
1: 82,978,503 (GRCm39) |
G57S |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,325 (GRCm39) |
H2262Q |
possibly damaging |
Het |
| Gpam |
T |
C |
19: 55,064,767 (GRCm39) |
T646A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hexd |
C |
T |
11: 121,095,496 (GRCm39) |
|
probably benign |
Het |
| Micu2 |
A |
T |
14: 58,209,238 (GRCm39) |
Y73* |
probably null |
Het |
| N4bp2l2 |
T |
C |
5: 150,573,894 (GRCm39) |
|
probably null |
Het |
| Or11h7 |
T |
C |
14: 50,891,041 (GRCm39) |
C116R |
possibly damaging |
Het |
| Or1e31 |
T |
C |
11: 73,689,990 (GRCm39) |
M198V |
probably benign |
Het |
| Or1m1 |
A |
T |
9: 18,666,174 (GRCm39) |
Y252* |
probably null |
Het |
| Or51t4 |
T |
C |
7: 102,598,386 (GRCm39) |
V238A |
probably damaging |
Het |
| Or5b112 |
A |
T |
19: 13,319,103 (GRCm39) |
|
probably null |
Het |
| P3r3urf |
A |
G |
4: 116,030,667 (GRCm39) |
M24V |
probably benign |
Het |
| Prkca |
A |
G |
11: 107,874,848 (GRCm39) |
Y365H |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,684,873 (GRCm39) |
N3023Y |
probably damaging |
Het |
| S100a7a |
A |
G |
3: 90,562,822 (GRCm39) |
D3G |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,594,277 (GRCm39) |
F1709L |
probably damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,660 (GRCm39) |
E67G |
probably damaging |
Het |
| Slc25a22 |
A |
G |
7: 141,011,655 (GRCm39) |
L195P |
probably damaging |
Het |
| Sp140 |
TTTTTTTTTTTTT |
TTTTTTTTTTTTTTTTTT |
1: 85,572,290 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
A |
7: 102,084,741 (GRCm39) |
H564Q |
possibly damaging |
Het |
| Sulf2 |
C |
T |
2: 165,917,448 (GRCm39) |
W855* |
probably null |
Het |
| Tenm3 |
T |
C |
8: 49,127,588 (GRCm39) |
N30S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,197 (GRCm39) |
D381G |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,066,670 (GRCm39) |
T328A |
probably benign |
Het |
| Ttc6 |
C |
G |
12: 57,623,125 (GRCm39) |
Q175E |
probably benign |
Het |
| Vmn2r44 |
T |
C |
7: 8,370,941 (GRCm39) |
I702V |
probably damaging |
Het |
| Zfp768 |
A |
T |
7: 126,943,959 (GRCm39) |
F59L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAATGCTGTCCGACCATC -3'
(R):5'- GGCTCAACCATCTCACTTCCTAAG -3'
Sequencing Primer
(F):5'- TGCTGTCCGACCATCTAAGGAATG -3'
(R):5'- TCTCACTTCCTAAGGAACAAGGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation