Incidental Mutation 'R6352:Ptprd'
ID 535630
Institutional Source Beutler Lab
Gene Symbol Ptprd
Ensembl Gene ENSMUSG00000028399
Gene Name protein tyrosine phosphatase receptor type D
Synonyms 1110002J03Rik, B230219D21Rik, 3000002J10Rik
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 75859475-78130198 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 76009789 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107289] [ENSMUST00000107289] [ENSMUST00000174180] [ENSMUST00000174180]
AlphaFold Q64487
Predicted Effect probably null
Transcript: ENSMUST00000107289
SMART Domains Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399

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: ENSMUST00000107289
SMART Domains Protein: ENSMUSP00000102910
Gene: ENSMUSG00000028399

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: ENSMUST00000174180
SMART Domains Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399

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: ENSMUST00000174180
SMART Domains Protein: ENSMUSP00000133973
Gene: ENSMUSG00000028399

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mboat1 G A 13: 30,386,403 (GRCm39) G139E possibly damaging Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A possibly damaging 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
P0033:Ptprd UTSW 4 76,047,091 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGTGCAGTCTATTTTCTCTCAGTG -3'
(R):5'- AGGATGCTCGAATATCCCCAAC -3'

Sequencing Primer
(F):5'- ATCCATGTTTACTATTTGGCTGAAGG -3'
(R):5'- GATGCTCGAATATCCCCAACTTCAC -3'
Posted On 2018-09-13