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) question?
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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*

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On 2012-10-29
Science Writer Anne Murray