Incidental Mutation 'P0033:Ptprd'
ID |
7785 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ptprd
|
Ensembl Gene |
ENSMUSG00000028399 |
Gene Name |
protein tyrosine phosphatase receptor type D |
Synonyms |
1110002J03Rik, B230219D21Rik, 3000002J10Rik |
MMRRC Submission |
038284-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
P0033 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
75859475-78130198 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 76047091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 392
(R392*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050757]
[ENSMUST00000098005]
[ENSMUST00000102834]
[ENSMUST00000107289]
[ENSMUST00000173376]
[ENSMUST00000174023]
[ENSMUST00000174531]
[ENSMUST00000174180]
[ENSMUST00000174831]
[ENSMUST00000174832]
|
AlphaFold |
Q64487 |
Predicted Effect |
probably null
Transcript: ENSMUST00000050757
AA Change: R382*
|
SMART Domains |
Protein: ENSMUSP00000058466 Gene: ENSMUSG00000028399 AA Change: R382*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
IGc2
|
238 |
299 |
8.13e-4 |
SMART |
FN3
|
313 |
392 |
7.92e-14 |
SMART |
FN3
|
408 |
491 |
5.73e-11 |
SMART |
IG_like
|
499 |
593 |
8.34e1 |
SMART |
FN3
|
506 |
584 |
9.1e-14 |
SMART |
FN3
|
597 |
674 |
1.21e0 |
SMART |
transmembrane domain
|
847 |
869 |
N/A |
INTRINSIC |
low complexity region
|
870 |
882 |
N/A |
INTRINSIC |
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000098005
AA Change: R392*
|
SMART Domains |
Protein: ENSMUSP00000095614 Gene: ENSMUSG00000028399 AA Change: R392*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
607 |
684 |
1.21e0 |
SMART |
transmembrane domain
|
857 |
879 |
N/A |
INTRINSIC |
low complexity region
|
886 |
897 |
N/A |
INTRINSIC |
PTPc
|
950 |
1208 |
6.38e-134 |
SMART |
PTPc
|
1237 |
1499 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000102834
AA Change: R145*
|
SMART Domains |
Protein: ENSMUSP00000099898 Gene: ENSMUSG00000028399 AA Change: R145*
Domain | Start | End | E-Value | Type |
IGc2
|
1 |
62 |
8.13e-4 |
SMART |
FN3
|
76 |
155 |
7.92e-14 |
SMART |
FN3
|
171 |
254 |
5.73e-11 |
SMART |
IG_like
|
262 |
356 |
8.34e1 |
SMART |
FN3
|
269 |
347 |
9.1e-14 |
SMART |
FN3
|
360 |
437 |
1.21e0 |
SMART |
transmembrane domain
|
610 |
632 |
N/A |
INTRINSIC |
low complexity region
|
633 |
645 |
N/A |
INTRINSIC |
PTPc
|
698 |
956 |
6.38e-134 |
SMART |
PTPc
|
985 |
1247 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107289
AA Change: R392*
|
SMART Domains |
Protein: ENSMUSP00000102910 Gene: ENSMUSG00000028399 AA Change: R392*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
609 |
696 |
2.72e-12 |
SMART |
FN3
|
712 |
809 |
2.87e-11 |
SMART |
FN3
|
824 |
904 |
4.96e-6 |
SMART |
FN3
|
919 |
1003 |
4.12e-12 |
SMART |
FN3
|
1018 |
1095 |
1.95e0 |
SMART |
transmembrane domain
|
1268 |
1290 |
N/A |
INTRINSIC |
low complexity region
|
1291 |
1303 |
N/A |
INTRINSIC |
PTPc
|
1356 |
1614 |
6.38e-134 |
SMART |
PTPc
|
1643 |
1905 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000173376
AA Change: R399*
|
SMART Domains |
Protein: ENSMUSP00000133468 Gene: ENSMUSG00000028399 AA Change: R399*
Domain | Start | End | E-Value | Type |
IGc2
|
43 |
112 |
8.57e-12 |
SMART |
IGc2
|
145 |
221 |
8.5e-16 |
SMART |
low complexity region
|
232 |
244 |
N/A |
INTRINSIC |
IGc2
|
255 |
316 |
8.13e-4 |
SMART |
FN3
|
330 |
409 |
7.92e-14 |
SMART |
FN3
|
425 |
508 |
5.73e-11 |
SMART |
IG_like
|
516 |
610 |
8.34e1 |
SMART |
FN3
|
523 |
601 |
9.1e-14 |
SMART |
FN3
|
614 |
691 |
1.21e0 |
SMART |
transmembrane domain
|
864 |
886 |
N/A |
INTRINSIC |
low complexity region
|
887 |
899 |
N/A |
INTRINSIC |
PTPc
|
952 |
1210 |
6.38e-134 |
SMART |
PTPc
|
1239 |
1501 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174023
AA Change: R389*
|
SMART Domains |
Protein: ENSMUSP00000133562 Gene: ENSMUSG00000028399 AA Change: R389*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
211 |
4.88e-16 |
SMART |
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
IGc2
|
245 |
306 |
8.13e-4 |
SMART |
FN3
|
320 |
399 |
7.92e-14 |
SMART |
FN3
|
415 |
498 |
5.73e-11 |
SMART |
IG_like
|
506 |
600 |
8.34e1 |
SMART |
FN3
|
513 |
591 |
9.1e-14 |
SMART |
FN3
|
604 |
681 |
1.21e0 |
SMART |
transmembrane domain
|
853 |
875 |
N/A |
INTRINSIC |
low complexity region
|
882 |
893 |
N/A |
INTRINSIC |
PTPc
|
946 |
1204 |
6.38e-134 |
SMART |
PTPc
|
1233 |
1495 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174531
AA Change: R386*
|
SMART Domains |
Protein: ENSMUSP00000134229 Gene: ENSMUSG00000028399 AA Change: R386*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
208 |
1.38e-15 |
SMART |
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
IGc2
|
242 |
303 |
8.13e-4 |
SMART |
FN3
|
317 |
396 |
7.92e-14 |
SMART |
FN3
|
412 |
495 |
5.73e-11 |
SMART |
IG_like
|
503 |
597 |
8.34e1 |
SMART |
FN3
|
510 |
588 |
9.1e-14 |
SMART |
FN3
|
601 |
678 |
1.21e0 |
SMART |
transmembrane domain
|
851 |
873 |
N/A |
INTRINSIC |
low complexity region
|
874 |
886 |
N/A |
INTRINSIC |
PTPc
|
939 |
1197 |
6.38e-134 |
SMART |
PTPc
|
1226 |
1488 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174180
AA Change: R379*
|
SMART Domains |
Protein: ENSMUSP00000133973 Gene: ENSMUSG00000028399 AA Change: R379*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
205 |
2.09e-15 |
SMART |
IGc2
|
235 |
296 |
8.13e-4 |
SMART |
FN3
|
310 |
389 |
7.92e-14 |
SMART |
FN3
|
405 |
488 |
5.73e-11 |
SMART |
IG_like
|
496 |
590 |
8.34e1 |
SMART |
FN3
|
503 |
581 |
9.1e-14 |
SMART |
FN3
|
596 |
683 |
2.72e-12 |
SMART |
FN3
|
699 |
787 |
6.15e-11 |
SMART |
FN3
|
802 |
882 |
4.96e-6 |
SMART |
FN3
|
897 |
981 |
4.12e-12 |
SMART |
FN3
|
996 |
1073 |
1.95e0 |
SMART |
transmembrane domain
|
1246 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1281 |
N/A |
INTRINSIC |
PTPc
|
1334 |
1592 |
6.38e-134 |
SMART |
PTPc
|
1621 |
1883 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174831
AA Change: R392*
|
SMART Domains |
Protein: ENSMUSP00000133328 Gene: ENSMUSG00000028399 AA Change: R392*
Domain | Start | End | E-Value | Type |
IGc2
|
36 |
105 |
8.57e-12 |
SMART |
IGc2
|
138 |
214 |
8.5e-16 |
SMART |
low complexity region
|
225 |
237 |
N/A |
INTRINSIC |
IGc2
|
248 |
309 |
8.13e-4 |
SMART |
FN3
|
323 |
402 |
7.92e-14 |
SMART |
FN3
|
418 |
501 |
5.73e-11 |
SMART |
IG_like
|
509 |
603 |
8.34e1 |
SMART |
FN3
|
516 |
594 |
9.1e-14 |
SMART |
FN3
|
607 |
684 |
1.21e0 |
SMART |
transmembrane domain
|
856 |
878 |
N/A |
INTRINSIC |
low complexity region
|
885 |
896 |
N/A |
INTRINSIC |
PTPc
|
949 |
1207 |
6.38e-134 |
SMART |
PTPc
|
1236 |
1498 |
9.17e-135 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174832
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 81.1%
- 3x: 72.9%
- 10x: 47.1%
- 20x: 23.7%
|
Validation Efficiency |
86% (108/125) |
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake. [provided by MGI curators]
|
Allele List at MGI |
All alleles(9) : Targeted(4) Gene trapped(5)
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Depdc1a |
T |
C |
3: 159,221,778 (GRCm39) |
S241P |
probably damaging |
Het |
Dusp19 |
T |
A |
2: 80,447,729 (GRCm39) |
M1K |
probably null |
Het |
Egfem1 |
G |
C |
3: 29,744,340 (GRCm39) |
Q526H |
probably damaging |
Het |
Gm10856 |
C |
A |
15: 79,730,023 (GRCm39) |
|
noncoding transcript |
Het |
Gm5901 |
A |
G |
7: 105,026,712 (GRCm39) |
Y160C |
probably damaging |
Het |
Hmg20a |
A |
G |
9: 56,397,108 (GRCm39) |
S303G |
probably benign |
Het |
Lmbrd1 |
A |
G |
1: 24,724,646 (GRCm39) |
T77A |
possibly damaging |
Het |
Map3k5 |
C |
T |
10: 20,007,959 (GRCm39) |
|
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,402,255 (GRCm39) |
V696I |
probably benign |
Het |
Orm3 |
A |
T |
4: 63,274,539 (GRCm39) |
T35S |
probably damaging |
Het |
Pdgfra |
A |
G |
5: 75,353,222 (GRCm39) |
E1004G |
probably damaging |
Het |
Pigg |
T |
A |
5: 108,489,944 (GRCm39) |
F850I |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,645,253 (GRCm39) |
V1067A |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,609,285 (GRCm39) |
|
probably benign |
Het |
Rapgef4 |
T |
C |
2: 71,967,675 (GRCm39) |
|
probably benign |
Het |
Rasef |
T |
C |
4: 73,668,089 (GRCm39) |
N134S |
probably benign |
Het |
Sfswap |
C |
T |
5: 129,616,819 (GRCm39) |
P421L |
possibly damaging |
Het |
Sorcs1 |
T |
A |
19: 50,141,345 (GRCm39) |
I1129F |
probably damaging |
Het |
Spats2l |
G |
A |
1: 57,924,997 (GRCm39) |
E132K |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,345,494 (GRCm39) |
S1648P |
probably damaging |
Het |
Ttc16 |
T |
A |
2: 32,652,586 (GRCm39) |
T691S |
probably benign |
Het |
Usp38 |
C |
T |
8: 81,708,525 (GRCm39) |
D1018N |
probably benign |
Het |
Zcchc14 |
A |
C |
8: 122,336,898 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ptprd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00964:Ptprd
|
APN |
4 |
75,916,793 (GRCm39) |
nonsense |
probably null |
|
IGL01067:Ptprd
|
APN |
4 |
75,977,922 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01121:Ptprd
|
APN |
4 |
75,872,438 (GRCm39) |
splice site |
probably benign |
|
IGL01531:Ptprd
|
APN |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01661:Ptprd
|
APN |
4 |
75,872,320 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01723:Ptprd
|
APN |
4 |
76,161,910 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01735:Ptprd
|
APN |
4 |
76,055,057 (GRCm39) |
splice site |
probably null |
|
IGL01810:Ptprd
|
APN |
4 |
76,058,744 (GRCm39) |
splice site |
probably benign |
|
IGL01834:Ptprd
|
APN |
4 |
76,046,832 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01835:Ptprd
|
APN |
4 |
76,165,058 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01867:Ptprd
|
APN |
4 |
76,161,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02582:Ptprd
|
APN |
4 |
75,865,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02591:Ptprd
|
APN |
4 |
75,900,287 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02741:Ptprd
|
APN |
4 |
76,051,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02866:Ptprd
|
APN |
4 |
75,968,674 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02960:Ptprd
|
APN |
4 |
76,047,105 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03155:Ptprd
|
APN |
4 |
75,984,456 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03230:Ptprd
|
APN |
4 |
75,968,654 (GRCm39) |
nonsense |
probably null |
|
IGL03343:Ptprd
|
APN |
4 |
75,977,966 (GRCm39) |
missense |
probably damaging |
1.00 |
unhurried
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
ANU22:Ptprd
|
UTSW |
4 |
76,018,693 (GRCm39) |
missense |
probably damaging |
0.99 |
F5493:Ptprd
|
UTSW |
4 |
76,002,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
R0044:Ptprd
|
UTSW |
4 |
76,004,566 (GRCm39) |
missense |
probably benign |
0.08 |
R0076:Ptprd
|
UTSW |
4 |
75,865,276 (GRCm39) |
splice site |
probably benign |
|
R0137:Ptprd
|
UTSW |
4 |
76,055,140 (GRCm39) |
missense |
probably benign |
0.24 |
R0358:Ptprd
|
UTSW |
4 |
75,863,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R0365:Ptprd
|
UTSW |
4 |
76,055,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Ptprd
|
UTSW |
4 |
76,046,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Ptprd
|
UTSW |
4 |
76,018,711 (GRCm39) |
missense |
probably benign |
|
R0646:Ptprd
|
UTSW |
4 |
76,002,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R0667:Ptprd
|
UTSW |
4 |
75,875,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R0707:Ptprd
|
UTSW |
4 |
75,875,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R0734:Ptprd
|
UTSW |
4 |
76,058,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Ptprd
|
UTSW |
4 |
76,047,152 (GRCm39) |
missense |
probably damaging |
0.98 |
R0932:Ptprd
|
UTSW |
4 |
76,055,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1069:Ptprd
|
UTSW |
4 |
76,018,870 (GRCm39) |
nonsense |
probably null |
|
R1069:Ptprd
|
UTSW |
4 |
75,916,724 (GRCm39) |
splice site |
probably benign |
|
R1086:Ptprd
|
UTSW |
4 |
76,051,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R1439:Ptprd
|
UTSW |
4 |
75,984,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R1440:Ptprd
|
UTSW |
4 |
76,002,789 (GRCm39) |
missense |
probably damaging |
0.98 |
R1688:Ptprd
|
UTSW |
4 |
75,900,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R1858:Ptprd
|
UTSW |
4 |
75,865,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Ptprd
|
UTSW |
4 |
75,872,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Ptprd
|
UTSW |
4 |
76,051,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R2023:Ptprd
|
UTSW |
4 |
75,875,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R2413:Ptprd
|
UTSW |
4 |
76,051,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
R2914:Ptprd
|
UTSW |
4 |
75,865,338 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Ptprd
|
UTSW |
4 |
76,025,561 (GRCm39) |
missense |
probably benign |
0.10 |
R3051:Ptprd
|
UTSW |
4 |
76,018,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R3433:Ptprd
|
UTSW |
4 |
76,004,248 (GRCm39) |
critical splice donor site |
probably null |
|
R3964:Ptprd
|
UTSW |
4 |
75,978,073 (GRCm39) |
splice site |
probably benign |
|
R4009:Ptprd
|
UTSW |
4 |
75,874,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4394:Ptprd
|
UTSW |
4 |
76,046,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R4420:Ptprd
|
UTSW |
4 |
75,957,614 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4424:Ptprd
|
UTSW |
4 |
76,021,200 (GRCm39) |
missense |
probably benign |
0.22 |
R4575:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4578:Ptprd
|
UTSW |
4 |
76,162,023 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4715:Ptprd
|
UTSW |
4 |
76,025,570 (GRCm39) |
missense |
probably benign |
0.03 |
R4782:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
R4785:Ptprd
|
UTSW |
4 |
76,058,790 (GRCm39) |
missense |
probably benign |
0.05 |
R4799:Ptprd
|
UTSW |
4 |
76,009,769 (GRCm39) |
missense |
probably benign |
0.01 |
R4944:Ptprd
|
UTSW |
4 |
76,047,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R4950:Ptprd
|
UTSW |
4 |
76,058,752 (GRCm39) |
splice site |
probably null |
|
R4969:Ptprd
|
UTSW |
4 |
76,051,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R5153:Ptprd
|
UTSW |
4 |
75,930,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R5164:Ptprd
|
UTSW |
4 |
76,018,995 (GRCm39) |
splice site |
probably null |
|
R5287:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
R5305:Ptprd
|
UTSW |
4 |
75,900,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R5362:Ptprd
|
UTSW |
4 |
76,047,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R5403:Ptprd
|
UTSW |
4 |
75,872,405 (GRCm39) |
nonsense |
probably null |
|
R5531:Ptprd
|
UTSW |
4 |
75,977,904 (GRCm39) |
critical splice donor site |
probably null |
|
R5543:Ptprd
|
UTSW |
4 |
75,977,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Ptprd
|
UTSW |
4 |
75,990,255 (GRCm39) |
missense |
probably benign |
0.01 |
R5719:Ptprd
|
UTSW |
4 |
75,972,839 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5884:Ptprd
|
UTSW |
4 |
75,900,927 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Ptprd
|
UTSW |
4 |
75,984,528 (GRCm39) |
missense |
probably benign |
0.06 |
R6250:Ptprd
|
UTSW |
4 |
76,047,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R6335:Ptprd
|
UTSW |
4 |
75,872,420 (GRCm39) |
missense |
probably damaging |
1.00 |
R6352:Ptprd
|
UTSW |
4 |
76,009,789 (GRCm39) |
splice site |
probably null |
|
R6533:Ptprd
|
UTSW |
4 |
76,046,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Ptprd
|
UTSW |
4 |
75,873,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R6782:Ptprd
|
UTSW |
4 |
76,243,377 (GRCm39) |
splice site |
probably null |
|
R7131:Ptprd
|
UTSW |
4 |
75,984,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Ptprd
|
UTSW |
4 |
75,990,199 (GRCm39) |
missense |
probably benign |
0.06 |
R7233:Ptprd
|
UTSW |
4 |
75,978,020 (GRCm39) |
missense |
probably benign |
0.00 |
R7246:Ptprd
|
UTSW |
4 |
76,046,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R7413:Ptprd
|
UTSW |
4 |
76,165,076 (GRCm39) |
missense |
probably benign |
0.00 |
R7428:Ptprd
|
UTSW |
4 |
76,004,705 (GRCm39) |
missense |
probably benign |
0.03 |
R7442:Ptprd
|
UTSW |
4 |
75,978,058 (GRCm39) |
nonsense |
probably null |
|
R7491:Ptprd
|
UTSW |
4 |
76,051,392 (GRCm39) |
missense |
probably benign |
0.23 |
R7526:Ptprd
|
UTSW |
4 |
75,984,564 (GRCm39) |
missense |
probably benign |
0.00 |
R7609:Ptprd
|
UTSW |
4 |
75,990,240 (GRCm39) |
missense |
probably benign |
0.03 |
R7612:Ptprd
|
UTSW |
4 |
76,004,696 (GRCm39) |
missense |
probably benign |
0.45 |
R7659:Ptprd
|
UTSW |
4 |
76,047,153 (GRCm39) |
missense |
probably benign |
0.03 |
R7743:Ptprd
|
UTSW |
4 |
76,004,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Ptprd
|
UTSW |
4 |
76,017,741 (GRCm39) |
missense |
probably null |
0.39 |
R7788:Ptprd
|
UTSW |
4 |
75,916,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Ptprd
|
UTSW |
4 |
75,900,881 (GRCm39) |
missense |
probably damaging |
0.99 |
R7937:Ptprd
|
UTSW |
4 |
76,013,772 (GRCm39) |
missense |
probably benign |
0.00 |
R8000:Ptprd
|
UTSW |
4 |
75,984,479 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8018:Ptprd
|
UTSW |
4 |
76,003,757 (GRCm39) |
missense |
probably damaging |
0.98 |
R8072:Ptprd
|
UTSW |
4 |
76,004,273 (GRCm39) |
missense |
probably benign |
0.01 |
R8119:Ptprd
|
UTSW |
4 |
76,047,263 (GRCm39) |
missense |
probably benign |
0.00 |
R8350:Ptprd
|
UTSW |
4 |
75,868,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R8387:Ptprd
|
UTSW |
4 |
75,873,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R8458:Ptprd
|
UTSW |
4 |
75,984,496 (GRCm39) |
missense |
probably benign |
0.00 |
R8529:Ptprd
|
UTSW |
4 |
76,047,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Ptprd
|
UTSW |
4 |
75,959,629 (GRCm39) |
missense |
probably benign |
|
R8924:Ptprd
|
UTSW |
4 |
75,916,736 (GRCm39) |
critical splice donor site |
probably null |
|
R8984:Ptprd
|
UTSW |
4 |
75,863,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9024:Ptprd
|
UTSW |
4 |
75,874,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R9204:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9206:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9259:Ptprd
|
UTSW |
4 |
75,990,200 (GRCm39) |
missense |
probably damaging |
0.99 |
R9311:Ptprd
|
UTSW |
4 |
76,051,320 (GRCm39) |
missense |
probably benign |
0.25 |
R9417:Ptprd
|
UTSW |
4 |
75,865,335 (GRCm39) |
missense |
probably damaging |
0.99 |
R9427:Ptprd
|
UTSW |
4 |
76,051,440 (GRCm39) |
missense |
probably benign |
0.01 |
R9579:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9580:Ptprd
|
UTSW |
4 |
75,872,315 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9701:Ptprd
|
UTSW |
4 |
75,916,896 (GRCm39) |
missense |
probably damaging |
1.00 |
RF016:Ptprd
|
UTSW |
4 |
76,046,892 (GRCm39) |
missense |
probably benign |
0.01 |
RF023:Ptprd
|
UTSW |
4 |
76,046,802 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Ptprd
|
UTSW |
4 |
76,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
Nature of Mutation |
Multiple transcripts of the Ptprd gene are displayed on Ensembl and Vega.
|
Protein Function and Prediction |
Ptprd is a receptor-type protein-tyrosine phosphatase that is important in regulating hippocampal long-term potentiation (LTP), learning processes, synaptic plasticity, and memory (1). A homozygous microdeletion within the PTPRD locus has been loosely linked to the metastatic potential of cutaneous squamous cell carcinomas, pointing to a possible function as a tumor suppressor gene (2). In addition, microdeletions within the 5’ untranslated region (UTR) of PTPRD have been linked to the pathogenesis of neuroblastomas (NBLs); expression of PTPRD is reduced in NBLs (3). Further studies found that PTPRD is often inactivated in glioblastoma multiforme (GBM), a primary neoplasm of the brain (4). This study also implicates PTPRD as a tumor suppressor.
The protein is able to shed its ectodomain. Isoform C is 1894 amino acids long and is considered to be the canonical sequence. Isoform A, corresponding to Genbank transcript NM_001014288, is 1254 amino acids long. Isoform C contains eight fibronectin type-III domains, three Ig-like C2-type (immunoglobulin-like) domains, and two tyrosine-protein phosphatase domains (Uniprot Q64487). Using SMART analysis, isoform A contains one N-terminal Ig-like C2-type domain, four fibronectin type-III domains, and two protein phosphatase domains following the transmembrane domain. The second domain is predicted to be inactive.
|
Expression/Localization |
Northern blot analysis demonstrated expression of Ptprd mRNA in brain, kidney, and heart (5). In situ hybridization of brain samples revealed that the mRNA was in hippocampus, thalamic reticular nucleus, and piriform cortex (5). All of the pre-B cell lines tested and 1 of 3 B-cell lines tested expressed mRNA, whereas antibody-producing B-cell hybridomas and T-cell and macrophage lines did not (5).
|
Background |
SNPs within the 5’ UTR of PTPRD have been linked to restless legs syndrome 3 [RLS3; OMIM: %610438; (6;7)], a neurologic sleep/wake disorder characterized by uncomfortable and unpleasant sensations in the legs that appear at rest, usually at night, inducing an irresistible desire to move the legs.
Ptprdtm1Yiw/tm1Yiw; MGI:2158795
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J
Homozygotes for a targeted null mutation exhibit impaired learning of spatial tasks, enhanced long-term potentiation at hippocampal synapses, and high mortality associated with reduced food intake (1).
|
References |
1. Uetani, N., Kato, K., Ogura, H., Mizuno, K., Kawano, K., Mikoshiba, K., Yakura, H., Asano, M., and Iwakura, Y. (2000) Impaired Learning with Enhanced Hippocampal Long-Term Potentiation in PTPdelta-Deficient Mice. EMBO J. 19, 2775-2785.
2. Purdie, K. J., Lambert, S. R., Teh, M. T., Chaplin, T., Molloy, G., Raghavan, M., Kelsell, D. P., Leigh, I. M., Harwood, C. A., Proby, C. M., and Young, B. D. (2007) Allelic Imbalances and Microdeletions Affecting the PTPRD Gene in Cutaneous Squamous Cell Carcinomas Detected using Single Nucleotide Polymorphism Microarray Analysis. Genes Chromosomes Cancer. 46, 661-669.
3. Nair, P., De Preter, K., Vandesompele, J., Speleman, F., and Stallings, R. L. (2008) Aberrant Splicing of the PTPRD Gene Mimics Microdeletions Identified at this Locus in Neuroblastomas. Genes Chromosomes Cancer. 47, 197-202.
4. Veeriah, S., Brennan, C., Meng, S., Singh, B., Fagin, J. A., Solit, D. B., Paty, P. B., Rohle, D., Vivanco, I., Chmielecki, J., Pao, W., Ladanyi, M., Gerald, W. L., Liau, L., Cloughesy, T. C., Mischel, P. S., Sander, C., Taylor, B., Schultz, N., Major, J., Heguy, A., Fang, F., Mellinghoff, I. K., and Chan, T. A. (2009) The Tyrosine Phosphatase PTPRD is a Tumor Suppressor that is Frequently Inactivated and Mutated in Glioblastoma and Other Human Cancers. Proc Natl Acad Sci U S A. 106, 9435-9440.
5. Mizuno, K., Hasegawa, K., Katagiri, T., Ogimoto, M., Ichikawa, T., and Yakura, H. (1993) MPTP Delta, a Putative Murine Homolog of HPTP Delta, is Expressed in Specialized Regions of the Brain and in the B-Cell Lineage. Mol Cell Biol. 13, 5513-5523.
6. Schormair, B., Kemlink, D., Roeske, D., Eckstein, G., Xiong, L., Lichtner, P., Ripke, S., Trenkwalder, C., Zimprich, A., Stiasny-Kolster, K., Oertel, W., Bachmann, C. G., Paulus, W., Hogl, B., Frauscher, B., Gschliesser, V., Poewe, W., Peglau, I., Vodicka, P., Vavrova, J., Sonka, K., Nevsimalova, S., Montplaisir, J., Turecki, G., Rouleau, G., Gieger, C., Illig, T., Wichmann, H. E., Holsboer, F., Muller-Myhsok, B., Meitinger, T., and Winkelmann, J. (2008) PTPRD (Protein Tyrosine Phosphatase Receptor Type Delta) is Associated with Restless Legs Syndrome. Nat Genet. 40, 946-948.
7. Yang, Q., Li, L., Yang, R., Shen, G. Q., Chen, Q., Foldvary-Schaefer, N., Ondo, W. G., and Wang, Q. K. (2011) Family-Based and Population-Based Association Studies Validate PTPRD as a Risk Factor for Restless Legs Syndrome. Mov Disord. 26, 516-519.
|
Posted On |
2012-10-29 |
Science Writer |
Anne Murray |