Incidental Mutation 'R1951:Ptprm'
| ID |
217331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptprm
|
| Ensembl Gene |
ENSMUSG00000033278 |
| Gene Name |
protein tyrosine phosphatase receptor type M |
| Synonyms |
RPTPmu |
| MMRRC Submission |
039965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1951 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67247575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 587
(S587T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
| AlphaFold |
P28828 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037974
AA Change: S587T
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000045603
Gene: ENSMUSG00000033278
AA Change: S587T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
MAM
|
22 |
184 |
2.81e-73 |
SMART |
|
IG
|
191 |
279 |
2.1e-6 |
SMART |
|
FN3
|
281 |
364 |
6.35e-4 |
SMART |
|
FN3
|
380 |
468 |
2.81e-5 |
SMART |
|
FN3
|
482 |
572 |
3.7e-5 |
SMART |
|
transmembrane domain
|
743 |
764 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
774 |
N/A |
INTRINSIC |
|
PTPc
|
899 |
1156 |
5.26e-135 |
SMART |
|
PTPc
|
1185 |
1450 |
9.46e-96 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223982
AA Change: S587T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224091
AA Change: S587T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225688
|
| Meta Mutation Damage Score |
0.0731 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (84/86) |
| 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. This PTP possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired flow-induced dilation in mesenteric resistance arteries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,655 (GRCm39) |
R706C |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,258,624 (GRCm39) |
F847S |
probably benign |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,208,336 (GRCm39) |
A44V |
probably benign |
Het |
| Asap3 |
C |
T |
4: 135,954,767 (GRCm39) |
R60* |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,245,593 (GRCm39) |
N347K |
probably benign |
Het |
| Best2 |
T |
A |
8: 85,737,858 (GRCm39) |
N179I |
possibly damaging |
Het |
| Bfar |
C |
T |
16: 13,519,970 (GRCm39) |
S276L |
probably damaging |
Het |
| Bloc1s3 |
A |
G |
7: 19,241,483 (GRCm39) |
V15A |
possibly damaging |
Het |
| Borcs5 |
A |
G |
6: 134,687,230 (GRCm39) |
H196R |
unknown |
Het |
| Calhm3 |
A |
G |
19: 47,140,256 (GRCm39) |
L279P |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,043,925 (GRCm39) |
|
probably benign |
Het |
| Car15 |
T |
C |
16: 17,655,269 (GRCm39) |
D57G |
possibly damaging |
Het |
| Casp12 |
G |
A |
9: 5,348,959 (GRCm39) |
|
probably null |
Het |
| Cd93 |
T |
C |
2: 148,283,778 (GRCm39) |
T523A |
probably benign |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Ckap5 |
A |
G |
2: 91,386,837 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,814,156 (GRCm39) |
R619W |
unknown |
Het |
| Colec12 |
G |
A |
18: 9,859,975 (GRCm39) |
|
probably null |
Het |
| Crmp1 |
G |
A |
5: 37,430,699 (GRCm39) |
V222I |
possibly damaging |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,616,756 (GRCm39) |
S60P |
probably benign |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,391,694 (GRCm39) |
I551V |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,206,537 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 71,068,306 (GRCm39) |
I300F |
probably damaging |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,061,704 (GRCm39) |
R2794* |
probably null |
Het |
| Fcgr1 |
G |
A |
3: 96,194,386 (GRCm39) |
T167I |
probably damaging |
Het |
| Fgl1 |
G |
T |
8: 41,650,387 (GRCm39) |
F187L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,860,242 (GRCm39) |
V2096E |
probably benign |
Het |
| Gm10647 |
A |
G |
9: 66,705,762 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
G |
A |
2: 154,866,255 (GRCm39) |
D71N |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,760,829 (GRCm39) |
I284N |
probably damaging |
Het |
| Hirip3 |
A |
G |
7: 126,462,038 (GRCm39) |
R19G |
probably damaging |
Het |
| Ift70b |
A |
G |
2: 75,767,586 (GRCm39) |
L389P |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,438 (GRCm39) |
N174D |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,929,317 (GRCm39) |
D1078G |
probably damaging |
Het |
| Khdc3 |
T |
C |
9: 73,010,519 (GRCm39) |
V123A |
possibly damaging |
Het |
| Klhl13 |
A |
G |
X: 23,127,820 (GRCm39) |
|
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,321 (GRCm39) |
S98P |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,670,298 (GRCm39) |
N602S |
possibly damaging |
Het |
| Lrrd1 |
A |
T |
5: 3,901,488 (GRCm39) |
I598F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,458,372 (GRCm39) |
T318A |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,748,517 (GRCm39) |
F116S |
probably damaging |
Het |
| Ncam1 |
T |
C |
9: 49,456,492 (GRCm39) |
I486V |
probably benign |
Het |
| Nptx1 |
A |
G |
11: 119,434,006 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,408,221 (GRCm39) |
Y4C |
probably damaging |
Het |
| Nsf |
G |
A |
11: 103,773,702 (GRCm39) |
R271* |
probably null |
Het |
| Or5d39 |
A |
G |
2: 87,979,641 (GRCm39) |
S241P |
possibly damaging |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8k18 |
G |
C |
2: 86,085,440 (GRCm39) |
T199S |
probably benign |
Het |
| Or8k21 |
T |
A |
2: 86,145,504 (GRCm39) |
N42I |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,215,855 (GRCm39) |
H302Q |
probably benign |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,780,813 (GRCm39) |
Y212H |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,946,954 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
G |
T |
11: 71,965,450 (GRCm39) |
H112N |
possibly damaging |
Het |
| Ppargc1b |
G |
T |
18: 61,431,848 (GRCm39) |
T1000K |
possibly damaging |
Het |
| Psd3 |
C |
A |
8: 68,416,139 (GRCm39) |
C586F |
probably benign |
Het |
| Rabep2 |
A |
T |
7: 126,037,736 (GRCm39) |
R169S |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,497,179 (GRCm39) |
R309G |
probably benign |
Het |
| Rbm12 |
T |
C |
2: 155,939,133 (GRCm39) |
R380G |
probably damaging |
Het |
| Selp |
A |
G |
1: 163,954,081 (GRCm39) |
N127S |
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,012,467 (GRCm39) |
T197A |
possibly damaging |
Het |
| Slc22a18 |
C |
T |
7: 143,029,984 (GRCm39) |
T17I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,065,868 (GRCm39) |
E2026G |
possibly damaging |
Het |
| Srf |
A |
T |
17: 46,862,633 (GRCm39) |
M285K |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,622,156 (GRCm39) |
V425A |
possibly damaging |
Het |
| Tle4 |
A |
T |
19: 14,493,721 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
A |
G |
11: 82,335,908 (GRCm39) |
R905G |
possibly damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,983 (GRCm39) |
I189F |
probably damaging |
Het |
| Trappc13 |
T |
C |
13: 104,311,150 (GRCm39) |
Q87R |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,673,219 (GRCm39) |
D511E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,632,634 (GRCm39) |
I14140N |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,513,907 (GRCm39) |
D587G |
probably benign |
Het |
| Vmn1r72 |
A |
G |
7: 11,403,731 (GRCm39) |
L239P |
probably damaging |
Het |
| Vmn2r68 |
A |
G |
7: 84,883,102 (GRCm39) |
F217L |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,881,041 (GRCm39) |
|
probably null |
Het |
| Vrtn |
T |
C |
12: 84,695,973 (GRCm39) |
V241A |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,927,136 (GRCm39) |
V343D |
probably damaging |
Het |
|
| Other mutations in Ptprm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Ptprm
|
APN |
17 |
67,124,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01128:Ptprm
|
APN |
17 |
67,349,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01509:Ptprm
|
APN |
17 |
67,069,208 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01785:Ptprm
|
APN |
17 |
66,992,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01912:Ptprm
|
APN |
17 |
67,353,113 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01929:Ptprm
|
APN |
17 |
66,997,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01937:Ptprm
|
APN |
17 |
67,353,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL01939:Ptprm
|
APN |
17 |
67,370,158 (GRCm39) |
splice site |
probably benign |
|
|
IGL02053:Ptprm
|
APN |
17 |
67,000,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02203:Ptprm
|
APN |
17 |
67,260,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02468:Ptprm
|
APN |
17 |
67,121,504 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02500:Ptprm
|
APN |
17 |
67,227,043 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02542:Ptprm
|
APN |
17 |
67,227,145 (GRCm39) |
missense |
probably benign |
|
|
Becalming
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
|
Pacifying
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0674:Ptprm
|
UTSW |
17 |
67,498,336 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0709:Ptprm
|
UTSW |
17 |
67,251,327 (GRCm39) |
splice site |
probably null |
|
|
R1054:Ptprm
|
UTSW |
17 |
67,349,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Ptprm
|
UTSW |
17 |
67,000,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1561:Ptprm
|
UTSW |
17 |
67,247,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Ptprm
|
UTSW |
17 |
67,349,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1744:Ptprm
|
UTSW |
17 |
66,996,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Ptprm
|
UTSW |
17 |
66,995,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1953:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1993:Ptprm
|
UTSW |
17 |
67,054,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Ptprm
|
UTSW |
17 |
67,264,148 (GRCm39) |
splice site |
probably null |
|
|
R2266:Ptprm
|
UTSW |
17 |
67,032,846 (GRCm39) |
splice site |
probably null |
|
|
R2417:Ptprm
|
UTSW |
17 |
67,251,321 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2511:Ptprm
|
UTSW |
17 |
67,000,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:Ptprm
|
UTSW |
17 |
67,263,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3824:Ptprm
|
UTSW |
17 |
67,116,570 (GRCm39) |
missense |
probably benign |
0.40 |
|
R4057:Ptprm
|
UTSW |
17 |
67,382,658 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4113:Ptprm
|
UTSW |
17 |
67,032,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Ptprm
|
UTSW |
17 |
66,990,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4598:Ptprm
|
UTSW |
17 |
67,402,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4742:Ptprm
|
UTSW |
17 |
67,051,746 (GRCm39) |
nonsense |
probably null |
|
|
R4974:Ptprm
|
UTSW |
17 |
66,985,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5157:Ptprm
|
UTSW |
17 |
67,264,092 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5433:Ptprm
|
UTSW |
17 |
67,000,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5509:Ptprm
|
UTSW |
17 |
66,996,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Ptprm
|
UTSW |
17 |
67,227,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5820:Ptprm
|
UTSW |
17 |
66,996,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5867:Ptprm
|
UTSW |
17 |
67,352,976 (GRCm39) |
splice site |
probably null |
|
|
R6044:Ptprm
|
UTSW |
17 |
67,000,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Ptprm
|
UTSW |
17 |
66,995,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6615:Ptprm
|
UTSW |
17 |
67,660,951 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6969:Ptprm
|
UTSW |
17 |
67,219,413 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7135:Ptprm
|
UTSW |
17 |
67,251,283 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7161:Ptprm
|
UTSW |
17 |
67,116,622 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7410:Ptprm
|
UTSW |
17 |
67,000,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7476:Ptprm
|
UTSW |
17 |
67,032,786 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Ptprm
|
UTSW |
17 |
67,402,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8027:Ptprm
|
UTSW |
17 |
67,251,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Ptprm
|
UTSW |
17 |
66,990,483 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8442:Ptprm
|
UTSW |
17 |
67,251,312 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8476:Ptprm
|
UTSW |
17 |
67,251,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Ptprm
|
UTSW |
17 |
67,116,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8907:Ptprm
|
UTSW |
17 |
67,051,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8930:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8932:Ptprm
|
UTSW |
17 |
67,263,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9009:Ptprm
|
UTSW |
17 |
66,996,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9084:Ptprm
|
UTSW |
17 |
67,263,948 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9338:Ptprm
|
UTSW |
17 |
67,069,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9514:Ptprm
|
UTSW |
17 |
67,116,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Ptprm
|
UTSW |
17 |
67,000,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9620:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Ptprm
|
UTSW |
17 |
67,498,291 (GRCm39) |
missense |
probably benign |
0.34 |
|
R9694:Ptprm
|
UTSW |
17 |
67,116,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9736:Ptprm
|
UTSW |
17 |
66,997,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGTATGACCCTTTTGC -3'
(R):5'- AAACCCAAGCTGTGCTCTTTC -3'
Sequencing Primer
(F):5'- GCCAGTATGACCCTTTTGCTGTTG -3'
(R):5'- AAGCTGTGCTCTTTCTCTGTTTC -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation