Incidental Mutation 'R5586:Ptprm'
ID |
438775 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprm
|
Ensembl Gene |
ENSMUSG00000033278 |
Gene Name |
protein tyrosine phosphatase receptor type M |
Synonyms |
RPTPmu |
MMRRC Submission |
043140-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5586 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
66973942-67661452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67227191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 653
(S653P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037974]
[ENSMUST00000223982]
[ENSMUST00000224091]
|
AlphaFold |
P28828 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037974
AA Change: S653P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045603 Gene: ENSMUSG00000033278 AA Change: S653P
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: S653P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224091
AA Change: S653P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225688
|
Meta Mutation Damage Score |
0.2009 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
Validation Efficiency |
98% (101/103) |
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: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,277,153 (GRCm39) |
|
noncoding transcript |
Het |
Aaas |
A |
T |
15: 102,255,111 (GRCm39) |
|
probably null |
Het |
Abcc3 |
G |
A |
11: 94,255,247 (GRCm39) |
R600W |
probably damaging |
Het |
Abhd13 |
A |
T |
8: 10,038,318 (GRCm39) |
Q305L |
probably benign |
Het |
Adcy5 |
A |
T |
16: 34,977,486 (GRCm39) |
I340F |
probably damaging |
Het |
Adgrl3 |
T |
A |
5: 81,871,994 (GRCm39) |
I964N |
probably damaging |
Het |
Anks1b |
T |
A |
10: 89,912,926 (GRCm39) |
H316Q |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,554,964 (GRCm39) |
F454I |
possibly damaging |
Het |
Apol7c |
T |
C |
15: 77,410,599 (GRCm39) |
R116G |
possibly damaging |
Het |
Arhgap5 |
A |
G |
12: 52,566,695 (GRCm39) |
E1222G |
possibly damaging |
Het |
AW551984 |
A |
G |
9: 39,502,559 (GRCm39) |
V673A |
probably benign |
Het |
Baiap2l1 |
A |
G |
5: 144,218,949 (GRCm39) |
S220P |
probably damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,926 (GRCm39) |
F143L |
probably benign |
Het |
Calb1 |
A |
T |
4: 15,900,811 (GRCm39) |
T165S |
probably benign |
Het |
Ccdc66 |
C |
A |
14: 27,228,668 (GRCm39) |
G6C |
probably damaging |
Het |
Ccdc88a |
A |
G |
11: 29,453,484 (GRCm39) |
I344V |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,857,587 (GRCm39) |
D249V |
probably damaging |
Het |
Ces1c |
T |
A |
8: 93,854,227 (GRCm39) |
T103S |
probably benign |
Het |
Cfap54 |
T |
A |
10: 92,808,473 (GRCm39) |
K1401* |
probably null |
Het |
Copa |
T |
A |
1: 171,932,789 (GRCm39) |
N371K |
probably damaging |
Het |
Cyp2b10 |
A |
T |
7: 25,616,437 (GRCm39) |
Y348F |
probably damaging |
Het |
Dennd5a |
T |
C |
7: 109,504,928 (GRCm39) |
R861G |
possibly damaging |
Het |
Dhx8 |
T |
C |
11: 101,623,862 (GRCm39) |
|
probably benign |
Het |
Dido1 |
C |
T |
2: 180,301,445 (GRCm39) |
W2153* |
probably null |
Het |
Dlgap1 |
T |
A |
17: 71,125,156 (GRCm39) |
V969D |
probably damaging |
Het |
Dvl3 |
A |
G |
16: 20,336,039 (GRCm39) |
D32G |
probably damaging |
Het |
Epdr1 |
T |
C |
13: 19,778,718 (GRCm39) |
D24G |
probably benign |
Het |
Etnk2 |
T |
A |
1: 133,307,043 (GRCm39) |
|
probably null |
Het |
Fhad1 |
C |
T |
4: 141,632,442 (GRCm39) |
M1232I |
probably benign |
Het |
Gcnt2 |
A |
C |
13: 41,014,429 (GRCm39) |
E200A |
probably damaging |
Het |
Gm5174 |
A |
G |
10: 86,492,409 (GRCm39) |
|
noncoding transcript |
Het |
Gm6408 |
T |
A |
5: 146,421,267 (GRCm39) |
F299I |
possibly damaging |
Het |
Gpr85 |
G |
T |
6: 13,836,000 (GRCm39) |
Y301* |
probably null |
Het |
Gucy2e |
G |
T |
11: 69,117,082 (GRCm39) |
P780T |
probably damaging |
Het |
Icam5 |
A |
T |
9: 20,946,116 (GRCm39) |
N316I |
probably damaging |
Het |
Ifit1bl1 |
C |
T |
19: 34,571,677 (GRCm39) |
R260Q |
probably damaging |
Het |
Il1r1 |
A |
C |
1: 40,264,411 (GRCm39) |
|
probably benign |
Het |
Kif3c |
A |
T |
12: 3,439,656 (GRCm39) |
I86F |
probably benign |
Het |
Klhdc2 |
A |
G |
12: 69,354,467 (GRCm39) |
|
probably null |
Het |
Mast2 |
A |
G |
4: 116,292,760 (GRCm39) |
L9P |
probably damaging |
Het |
Mcoln1 |
G |
T |
8: 3,560,389 (GRCm39) |
C316F |
probably damaging |
Het |
Mon1a |
A |
T |
9: 107,775,894 (GRCm39) |
D4V |
probably damaging |
Het |
Ms4a18 |
T |
A |
19: 10,991,038 (GRCm39) |
M19L |
probably benign |
Het |
Nbea |
T |
C |
3: 55,539,392 (GRCm39) |
K2790E |
probably benign |
Het |
Niban1 |
C |
T |
1: 151,593,307 (GRCm39) |
T664I |
probably benign |
Het |
Noc3l |
C |
T |
19: 38,803,139 (GRCm39) |
E167K |
possibly damaging |
Het |
Nol10 |
G |
A |
12: 17,466,829 (GRCm39) |
E570K |
possibly damaging |
Het |
Nr2e3 |
T |
C |
9: 59,856,484 (GRCm39) |
R69G |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,892,294 (GRCm39) |
R1358* |
probably null |
Het |
Or14j4 |
A |
T |
17: 37,921,145 (GRCm39) |
F166I |
probably damaging |
Het |
Or2b7 |
C |
A |
13: 21,739,266 (GRCm39) |
V309F |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,673,428 (GRCm39) |
I253T |
probably damaging |
Het |
Or5b117 |
A |
T |
19: 13,431,746 (GRCm39) |
M45K |
probably benign |
Het |
Pak2 |
A |
T |
16: 31,860,337 (GRCm39) |
D175E |
probably benign |
Het |
Pccb |
C |
T |
9: 100,867,856 (GRCm39) |
V357I |
possibly damaging |
Het |
Pcdhb4 |
C |
T |
18: 37,442,034 (GRCm39) |
P448L |
probably damaging |
Het |
Pcdhb9 |
A |
G |
18: 37,534,167 (GRCm39) |
M54V |
probably benign |
Het |
Ppp3cb |
A |
G |
14: 20,570,758 (GRCm39) |
|
probably benign |
Het |
Ppp4r1 |
A |
G |
17: 66,131,563 (GRCm39) |
D452G |
probably benign |
Het |
Pramel18 |
T |
A |
4: 101,767,317 (GRCm39) |
F189I |
probably benign |
Het |
Prmt3 |
T |
A |
7: 49,476,499 (GRCm39) |
D369E |
probably damaging |
Het |
Psmd12 |
T |
A |
11: 107,377,301 (GRCm39) |
V120D |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,189,732 (GRCm39) |
L1797P |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,053,141 (GRCm39) |
V926D |
probably damaging |
Het |
Retreg3 |
T |
G |
11: 100,997,165 (GRCm39) |
Q105P |
probably damaging |
Het |
Sacs |
A |
T |
14: 61,443,890 (GRCm39) |
R1979* |
probably null |
Het |
Scn2a |
T |
A |
2: 65,537,639 (GRCm39) |
L696* |
probably null |
Het |
Sema3c |
A |
T |
5: 17,916,422 (GRCm39) |
N465Y |
probably damaging |
Het |
Slc25a32 |
A |
T |
15: 38,963,308 (GRCm39) |
V171E |
possibly damaging |
Het |
Slc30a7 |
C |
T |
3: 115,783,700 (GRCm39) |
V158I |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,975,802 (GRCm39) |
|
probably benign |
Het |
Slc4a8 |
A |
G |
15: 100,685,045 (GRCm39) |
D140G |
probably damaging |
Het |
Slc7a11 |
G |
A |
3: 50,397,532 (GRCm39) |
S60L |
possibly damaging |
Het |
Spryd3 |
A |
T |
15: 102,040,372 (GRCm39) |
H59Q |
probably benign |
Het |
Sqstm1 |
T |
C |
11: 50,093,849 (GRCm39) |
D256G |
probably damaging |
Het |
Sst |
A |
T |
16: 23,708,487 (GRCm39) |
S115T |
probably damaging |
Het |
Stimate |
A |
G |
14: 30,592,776 (GRCm39) |
K166E |
probably damaging |
Het |
Surf1 |
T |
C |
2: 26,805,963 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
T |
16: 90,806,865 (GRCm39) |
|
probably benign |
Het |
Tet1 |
C |
A |
10: 62,714,073 (GRCm39) |
C574F |
probably damaging |
Het |
Thnsl1 |
T |
A |
2: 21,217,201 (GRCm39) |
Y318* |
probably null |
Het |
Tomm70a |
A |
G |
16: 56,942,493 (GRCm39) |
E90G |
probably damaging |
Het |
Treml4 |
A |
G |
17: 48,571,927 (GRCm39) |
D110G |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Txnl1 |
C |
T |
18: 63,797,396 (GRCm39) |
G283D |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
Usp4 |
T |
C |
9: 108,233,661 (GRCm39) |
V94A |
possibly damaging |
Het |
Vmn2r25 |
A |
C |
6: 123,802,255 (GRCm39) |
C549W |
probably damaging |
Het |
Vmn2r59 |
G |
T |
7: 41,695,105 (GRCm39) |
Q436K |
probably benign |
Het |
Wdr70 |
A |
T |
15: 7,913,769 (GRCm39) |
Y627N |
possibly damaging |
Het |
Xpr1 |
T |
C |
1: 155,188,609 (GRCm39) |
I344V |
probably benign |
Het |
Zfp423 |
T |
A |
8: 88,585,968 (GRCm39) |
Q61L |
possibly 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 |
R1951:Ptprm
|
UTSW |
17 |
67,247,575 (GRCm39) |
missense |
probably benign |
0.07 |
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 |
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'- ACTTACCCCATTGGCTCGAC -3'
(R):5'- GGCACTATGTCCACTGTGTTC -3'
Sequencing Primer
(F):5'- CGACTAGCAGCTTGGTAATAAATTC -3'
(R):5'- CAAATTCCTGGCAATTGAAGGC -3'
|
Posted On |
2016-10-26 |