Incidental Mutation 'R1876:Ptpre'
| ID |
211231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpre
|
| Ensembl Gene |
ENSMUSG00000041836 |
| Gene Name |
protein tyrosine phosphatase receptor type E |
| Synonyms |
RPTPepsilon, PTPepsilon, PTPe |
| MMRRC Submission |
039898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R1876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135280046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 570
(V570A)
|
| 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: V570A
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: V570A
| 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: V590A
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209979
AA Change: V513A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210833
AA Change: V570A
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211140
AA Change: V570A
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211788
AA Change: V583A
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.3303 |
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 95.1%
- 20x: 92.2%
|
| Validation Efficiency |
99% (82/83) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
C |
A |
5: 77,025,396 (GRCm39) |
C961F |
probably damaging |
Het |
| Abca16 |
A |
C |
7: 120,032,608 (GRCm39) |
D209A |
probably damaging |
Het |
| Adamts14 |
T |
C |
10: 61,036,151 (GRCm39) |
I1047V |
probably benign |
Het |
| Ak1 |
A |
G |
2: 32,520,282 (GRCm39) |
K27E |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,809 (GRCm39) |
D837E |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,473,104 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Atad2 |
T |
G |
15: 57,970,264 (GRCm39) |
I446L |
probably benign |
Het |
| Atp8b3 |
T |
G |
10: 80,365,912 (GRCm39) |
T313P |
possibly damaging |
Het |
| Btg4 |
T |
C |
9: 51,028,489 (GRCm39) |
L72S |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,195,186 (GRCm39) |
I294T |
probably damaging |
Het |
| Casp1 |
G |
A |
9: 5,303,663 (GRCm39) |
E250K |
probably benign |
Het |
| Chchd10 |
T |
A |
10: 75,772,166 (GRCm39) |
S46T |
probably benign |
Het |
| Col12a1 |
G |
T |
9: 79,585,563 (GRCm39) |
Y1271* |
probably null |
Het |
| Col3a1 |
G |
A |
1: 45,381,395 (GRCm39) |
|
probably null |
Het |
| Ctc1 |
A |
T |
11: 68,922,390 (GRCm39) |
T872S |
probably benign |
Het |
| Cx3cl1 |
T |
C |
8: 95,507,048 (GRCm39) |
F351S |
probably damaging |
Het |
| Cyb5r4 |
T |
A |
9: 86,937,867 (GRCm39) |
H295Q |
probably damaging |
Het |
| Cyp2j7 |
T |
C |
4: 96,105,656 (GRCm39) |
T285A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,153,925 (GRCm39) |
T135M |
probably damaging |
Het |
| Eif1ad18 |
T |
G |
12: 88,050,810 (GRCm39) |
I115S |
probably damaging |
Het |
| Fgf10 |
A |
G |
13: 118,925,695 (GRCm39) |
E158G |
probably damaging |
Het |
| Ftcd |
G |
T |
10: 76,417,403 (GRCm39) |
A281S |
probably benign |
Het |
| Gpat4 |
A |
T |
8: 23,669,486 (GRCm39) |
M333K |
possibly damaging |
Het |
| Gpcpd1 |
A |
G |
2: 132,376,673 (GRCm39) |
L541P |
probably damaging |
Het |
| Grk5 |
T |
C |
19: 61,071,663 (GRCm39) |
Y408H |
probably damaging |
Het |
| Hcrtr2 |
A |
G |
9: 76,153,627 (GRCm39) |
|
probably null |
Het |
| Hsd17b13 |
T |
A |
5: 104,116,633 (GRCm39) |
N127I |
probably damaging |
Het |
| Hspa4 |
T |
G |
11: 53,174,983 (GRCm39) |
D158A |
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,322,857 (GRCm39) |
A451T |
possibly damaging |
Het |
| Inpp5e |
A |
T |
2: 26,298,169 (GRCm39) |
I144K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,495,060 (GRCm39) |
I652V |
possibly damaging |
Het |
| Man1a |
A |
T |
10: 53,795,268 (GRCm39) |
W571R |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,047,807 (GRCm39) |
S32P |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,224 (GRCm39) |
I162T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr12 |
T |
C |
15: 12,257,716 (GRCm39) |
W265R |
probably damaging |
Het |
| Mup21 |
C |
T |
4: 62,067,663 (GRCm39) |
V79I |
probably benign |
Het |
| Myh11 |
G |
A |
16: 14,086,967 (GRCm39) |
|
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,506,711 (GRCm39) |
F495I |
probably benign |
Het |
| Ncoa7 |
A |
T |
10: 30,574,122 (GRCm39) |
|
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,594 (GRCm39) |
Y45C |
probably damaging |
Het |
| Nkain2 |
T |
A |
10: 32,766,435 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
T |
2: 36,827,775 (GRCm39) |
I215F |
possibly damaging |
Het |
| Or4k1 |
A |
G |
14: 50,377,629 (GRCm39) |
S156P |
probably damaging |
Het |
| Pdcl |
A |
C |
2: 37,245,708 (GRCm39) |
H98Q |
probably damaging |
Het |
| Pink1 |
A |
G |
4: 138,043,013 (GRCm39) |
V427A |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,769,067 (GRCm39) |
S2242P |
probably damaging |
Het |
| Plrg1 |
C |
A |
3: 82,976,375 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
A |
G |
10: 94,702,803 (GRCm39) |
F586S |
possibly damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,930,985 (GRCm39) |
V867M |
possibly damaging |
Het |
| Ppfia3 |
T |
A |
7: 45,001,631 (GRCm39) |
D427V |
possibly damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,521,971 (GRCm39) |
|
probably benign |
Het |
| Pros1 |
A |
T |
16: 62,723,881 (GRCm39) |
S210C |
probably damaging |
Het |
| Ptk2b |
A |
G |
14: 66,395,841 (GRCm39) |
S839P |
probably benign |
Het |
| Rbm48 |
C |
T |
5: 3,645,259 (GRCm39) |
A142T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,883,909 (GRCm39) |
|
probably null |
Het |
| Scnn1a |
A |
G |
6: 125,315,801 (GRCm39) |
E384G |
probably benign |
Het |
| Sec23ip |
A |
G |
7: 128,354,575 (GRCm39) |
Y277C |
probably benign |
Het |
| Slc25a29 |
G |
A |
12: 108,793,637 (GRCm39) |
T42M |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,905,990 (GRCm39) |
T264S |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,752,527 (GRCm39) |
M319T |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,572,207 (GRCm39) |
I640N |
probably damaging |
Het |
| Tacc2 |
A |
G |
7: 130,225,475 (GRCm39) |
D739G |
probably benign |
Het |
| Tigd4 |
T |
A |
3: 84,501,242 (GRCm39) |
L53* |
probably null |
Het |
| Tlr6 |
T |
A |
5: 65,112,763 (GRCm39) |
D48V |
probably damaging |
Het |
| Tmem125 |
T |
C |
4: 118,399,101 (GRCm39) |
D110G |
probably damaging |
Het |
| Tmem198 |
A |
G |
1: 75,461,567 (GRCm39) |
D341G |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,682 (GRCm39) |
F462L |
possibly damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,410,486 (GRCm39) |
I2378N |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,654,127 (GRCm39) |
T108A |
probably damaging |
Het |
| Vmn1r236 |
T |
A |
17: 21,506,900 (GRCm39) |
I6K |
probably benign |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,505 (GRCm39) |
V393D |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGCATGTGAAATCGC -3'
(R):5'- GCTATCAATCTCATGCTCCAGC -3'
Sequencing Primer
(F):5'- GGCATGTGAAATCGCCCTAC -3'
(R):5'- GAATTCATAGGATGCCTACCGC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation