Incidental Mutation 'R9541:Ptpre'
| ID |
719876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpre
|
| Ensembl Gene |
ENSMUSG00000041836 |
| Gene Name |
protein tyrosine phosphatase receptor type E |
| Synonyms |
RPTPepsilon, PTPepsilon, PTPe |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R9541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135266740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 236
(D236G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073961]
[ENSMUST00000209256]
[ENSMUST00000209979]
[ENSMUST00000210833]
[ENSMUST00000211140]
[ENSMUST00000211788]
|
| AlphaFold |
P49446 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073961
AA Change: D216G
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: D216G
| 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 benign
Transcript: ENSMUST00000209256
AA Change: D236G
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209979
AA Change: D159G
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210833
AA Change: D216G
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211140
AA Change: D216G
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211788
AA Change: D229G
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,801,079 (GRCm39) |
I450V |
probably benign |
Het |
| Adam21 |
T |
C |
12: 81,607,724 (GRCm39) |
T13A |
probably benign |
Het |
| Adamts4 |
C |
A |
1: 171,084,695 (GRCm39) |
P644H |
probably damaging |
Het |
| Ak9 |
C |
T |
10: 41,243,173 (GRCm39) |
A689V |
|
Het |
| Ankhd1 |
G |
A |
18: 36,757,697 (GRCm39) |
S209N |
|
Het |
| Anks1b |
A |
T |
10: 90,412,947 (GRCm39) |
T32S |
probably benign |
Het |
| Atp13a4 |
G |
T |
16: 29,241,544 (GRCm39) |
T708K |
|
Het |
| B4gat1 |
C |
T |
19: 5,089,896 (GRCm39) |
P298S |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,439,438 (GRCm39) |
L583P |
possibly damaging |
Het |
| Ciart |
C |
A |
3: 95,788,527 (GRCm39) |
C104F |
possibly damaging |
Het |
| Coq5 |
T |
C |
5: 115,417,901 (GRCm39) |
S44P |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,899,872 (GRCm39) |
V1175A |
probably benign |
Het |
| Filip1 |
T |
A |
9: 79,727,135 (GRCm39) |
K495* |
probably null |
Het |
| Fscn2 |
G |
A |
11: 120,258,771 (GRCm39) |
V439M |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,754,416 (GRCm39) |
I2339V |
probably benign |
Het |
| Gmppa |
T |
A |
1: 75,417,094 (GRCm39) |
S176R |
probably damaging |
Het |
| Gpatch3 |
G |
A |
4: 133,305,595 (GRCm39) |
E277K |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,767,685 (GRCm39) |
D1082G |
probably damaging |
Het |
| Hdgfl2 |
T |
A |
17: 56,405,976 (GRCm39) |
D487E |
unknown |
Het |
| Ifna14 |
A |
T |
4: 88,490,010 (GRCm39) |
M9K |
probably null |
Het |
| Igkv4-81 |
A |
G |
6: 68,967,925 (GRCm39) |
Y59H |
|
Het |
| Il2rb |
T |
A |
15: 78,372,393 (GRCm39) |
N108I |
probably benign |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Kdm5d |
T |
G |
Y: 910,801 (GRCm39) |
C304W |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,124,109 (GRCm39) |
I121T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,306,824 (GRCm39) |
H332L |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,234,600 (GRCm39) |
D1117G |
|
Het |
| Med25 |
A |
G |
7: 44,541,267 (GRCm39) |
V82A |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,512,508 (GRCm39) |
R581C |
possibly damaging |
Het |
| Mindy3 |
T |
C |
2: 12,391,449 (GRCm39) |
T257A |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,204,628 (GRCm39) |
Y76F |
probably damaging |
Het |
| Npas2 |
A |
T |
1: 39,377,194 (GRCm39) |
I519F |
possibly damaging |
Het |
| Or2h2c |
C |
T |
17: 37,422,824 (GRCm39) |
D17N |
probably benign |
Het |
| Or4f52 |
T |
A |
2: 111,061,275 (GRCm39) |
T288S |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,269,025 (GRCm39) |
H159L |
possibly damaging |
Het |
| Otx1 |
A |
G |
11: 21,947,052 (GRCm39) |
F86L |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,780,616 (GRCm39) |
D1856G |
probably benign |
Het |
| Pcsk7 |
G |
A |
9: 45,820,768 (GRCm39) |
E67K |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,607,927 (GRCm39) |
Y142C |
probably damaging |
Het |
| Rasd2 |
T |
C |
8: 75,945,200 (GRCm39) |
C10R |
probably benign |
Het |
| Rd3 |
C |
A |
1: 191,717,294 (GRCm39) |
R140S |
possibly damaging |
Het |
| Rusc1 |
T |
G |
3: 88,998,922 (GRCm39) |
T287P |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,749,084 (GRCm39) |
S78G |
probably damaging |
Het |
| Sltm |
A |
T |
9: 70,481,057 (GRCm39) |
H303L |
unknown |
Het |
| Syne4 |
G |
A |
7: 30,016,343 (GRCm39) |
V228I |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,300,641 (GRCm39) |
C138S |
possibly damaging |
Het |
| Trib2 |
T |
A |
12: 15,866,827 (GRCm39) |
I15L |
unknown |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tyro3 |
T |
C |
2: 119,642,589 (GRCm39) |
V591A |
possibly damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,056,209 (GRCm39) |
V643A |
probably benign |
Het |
| Zfp281 |
G |
T |
1: 136,555,303 (GRCm39) |
Q760H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCACTATGAATGCAGAGG -3'
(R):5'- AGCTGAGAACTGTCCAGTCAG -3'
Sequencing Primer
(F):5'- GAGGAGACATTGCTCTCAACC -3'
(R):5'- CTGTCCAGTCAGAGGGAGTG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation