Incidental Mutation 'R6974:Ptpre'
| ID |
542352 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptpre
|
| Ensembl Gene |
ENSMUSG00000041836 |
| Gene Name |
protein tyrosine phosphatase receptor type E |
| Synonyms |
RPTPepsilon, PTPepsilon, PTPe |
| MMRRC Submission |
045084-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.793)
|
| Stock # |
R6974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
135139210-135288022 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135270877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 344
(V344A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147524
(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: V331A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000073616
Gene: ENSMUSG00000041836
AA Change: V331A
| 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: V351A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000209979
AA Change: V274A
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210833
AA Change: V331A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211140
AA Change: V331A
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211788
AA Change: V344A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
T |
A |
12: 70,206,221 (GRCm39) |
N67K |
probably benign |
Het |
| Amotl1 |
C |
A |
9: 14,556,216 (GRCm39) |
E37* |
probably null |
Het |
| Ap4b1 |
C |
A |
3: 103,720,601 (GRCm39) |
Y90* |
probably null |
Het |
| Apc |
A |
G |
18: 34,431,480 (GRCm39) |
E277G |
possibly damaging |
Het |
| Atl1 |
T |
A |
12: 69,972,813 (GRCm39) |
H44Q |
probably damaging |
Het |
| Atp6v0b |
G |
A |
4: 117,742,864 (GRCm39) |
T74M |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,469,437 (GRCm39) |
T627A |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,647,449 (GRCm39) |
I372N |
possibly damaging |
Het |
| B4galt2 |
A |
G |
4: 117,731,148 (GRCm39) |
S338P |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,773,717 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
T |
C |
8: 11,362,538 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
A |
C |
9: 108,798,494 (GRCm39) |
I1741L |
possibly damaging |
Het |
| Coprs |
A |
T |
8: 13,935,750 (GRCm39) |
S90T |
probably benign |
Het |
| Csrnp3 |
T |
C |
2: 65,779,408 (GRCm39) |
V40A |
possibly damaging |
Het |
| Ephx1 |
C |
A |
1: 180,827,287 (GRCm39) |
|
probably null |
Het |
| Erich6 |
C |
A |
3: 58,526,220 (GRCm39) |
R594L |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,837,038 (GRCm39) |
N28Y |
probably damaging |
Het |
| Fbxo38 |
A |
T |
18: 62,639,740 (GRCm39) |
N1041K |
possibly damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,977 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,809,061 (GRCm39) |
N1793K |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,942,169 (GRCm39) |
I133T |
probably damaging |
Het |
| Gm57859 |
A |
G |
11: 113,578,818 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxa1 |
T |
A |
6: 52,135,021 (GRCm39) |
I61F |
probably damaging |
Het |
| Impact |
C |
T |
18: 13,115,169 (GRCm39) |
L102F |
probably damaging |
Het |
| Ist1 |
A |
T |
8: 110,404,284 (GRCm39) |
I196N |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,311,282 (GRCm39) |
S550T |
probably benign |
Het |
| Krt1c |
A |
T |
15: 101,726,314 (GRCm39) |
S75T |
unknown |
Het |
| Krtap21-1 |
A |
G |
16: 89,200,466 (GRCm39) |
S59P |
unknown |
Het |
| Lef1 |
A |
T |
3: 130,905,223 (GRCm39) |
I35F |
probably damaging |
Het |
| Lpcat2 |
A |
C |
8: 93,599,707 (GRCm39) |
N225T |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,538,649 (GRCm39) |
N142K |
probably benign |
Het |
| Mdh1b |
G |
A |
1: 63,760,975 (GRCm39) |
H88Y |
probably benign |
Het |
| Mettl26 |
A |
G |
17: 26,095,658 (GRCm39) |
D171G |
probably damaging |
Het |
| Mrps24 |
A |
T |
11: 5,654,663 (GRCm39) |
M97K |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,279,499 (GRCm39) |
C1020S |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,940,854 (GRCm39) |
I338K |
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,479 (GRCm39) |
Y45N |
probably benign |
Het |
| Or1e22 |
A |
G |
11: 73,377,299 (GRCm39) |
I117T |
probably benign |
Het |
| Or4p20 |
T |
C |
2: 88,254,156 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Or52s1b |
T |
A |
7: 102,822,442 (GRCm39) |
H134L |
probably damaging |
Het |
| Or7g12 |
T |
A |
9: 18,899,689 (GRCm39) |
I135N |
probably damaging |
Het |
| Paqr3 |
T |
A |
5: 97,256,146 (GRCm39) |
H76L |
probably damaging |
Het |
| Parp1 |
T |
A |
1: 180,417,071 (GRCm39) |
Y618* |
probably null |
Het |
| Pilrb2 |
C |
T |
5: 137,870,049 (GRCm39) |
|
probably benign |
Het |
| Pkm |
A |
G |
9: 59,575,853 (GRCm39) |
N90D |
probably damaging |
Het |
| Pla2g4c |
T |
G |
7: 13,078,459 (GRCm39) |
|
probably null |
Het |
| Plppr4 |
C |
T |
3: 117,116,667 (GRCm39) |
V339I |
probably damaging |
Het |
| Pnkp |
T |
A |
7: 44,510,462 (GRCm39) |
D304E |
probably damaging |
Het |
| Pnlip |
T |
C |
19: 58,668,067 (GRCm39) |
|
probably null |
Het |
| Polr2a |
A |
G |
11: 69,638,026 (GRCm39) |
C148R |
probably damaging |
Het |
| Ppp1r10 |
G |
A |
17: 36,240,443 (GRCm39) |
G578S |
probably benign |
Het |
| Ptges2 |
C |
T |
2: 32,287,683 (GRCm39) |
T137I |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,137 (GRCm39) |
F1002L |
probably damaging |
Het |
| Rcn2 |
T |
A |
9: 55,960,298 (GRCm39) |
Y188* |
probably null |
Het |
| Rest |
A |
G |
5: 77,416,046 (GRCm39) |
S87G |
probably damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,568 (GRCm39) |
D913N |
probably damaging |
Het |
| Scp2 |
A |
G |
4: 107,928,475 (GRCm39) |
M1T |
probably null |
Het |
| Slamf8 |
T |
A |
1: 172,415,590 (GRCm39) |
N83Y |
probably damaging |
Het |
| Slc26a11 |
T |
A |
11: 119,248,844 (GRCm39) |
F75Y |
possibly damaging |
Het |
| Slc26a5 |
A |
G |
5: 22,045,570 (GRCm39) |
S133P |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,487 (GRCm39) |
V83E |
probably damaging |
Het |
| Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,973,502 (GRCm39) |
N277D |
probably benign |
Het |
| Vmn1r189 |
C |
T |
13: 22,286,628 (GRCm39) |
G70S |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,495 (GRCm39) |
R684G |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,187,420 (GRCm39) |
N792D |
possibly damaging |
Het |
| Wnt5a |
A |
G |
14: 28,244,527 (GRCm39) |
D238G |
possibly damaging |
Het |
| Zbtb42 |
C |
A |
12: 112,646,824 (GRCm39) |
T333K |
probably damaging |
Het |
| Zfp119b |
A |
G |
17: 56,245,564 (GRCm39) |
S509P |
probably benign |
Het |
| Zfp365 |
T |
A |
10: 67,745,594 (GRCm39) |
K61N |
probably damaging |
Het |
| Zfp553 |
T |
C |
7: 126,835,825 (GRCm39) |
F460S |
probably damaging |
Het |
| Zfp788 |
C |
T |
7: 41,299,301 (GRCm39) |
Q594* |
probably null |
Het |
| Zfp984 |
T |
A |
4: 147,845,707 (GRCm39) |
M1L |
possibly damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,347,566 (GRCm39) |
Y291* |
probably null |
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 |
|
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'- GAGATGCTAAACAGTTCCACCTCC -3'
(R):5'- GCCTTGTCAGCCTTCAAGAG -3'
Sequencing Primer
(F):5'- TAAACAGTTCCACCTCCCATCTC -3'
(R):5'- GCCTTCAAGAGTTTTACATATTGGG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation