Incidental Mutation 'IGL01411:Ptpra'
ID 80010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpra
Ensembl Gene ENSMUSG00000027303
Gene Name protein tyrosine phosphatase receptor type A
Synonyms PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01411
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130386359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 603 (I603T)
Ref Sequence ENSEMBL: ENSMUSP00000076533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]
AlphaFold P18052
PDB Structure Crystal structure of the D2 domain of RPTPa [X-RAY DIFFRACTION]
RECEPTOR PROTEIN TYROSINE PHOSPHATASE ALPHA, DOMAIN 1 FROM MOUSE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028769
AA Change: I567T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: I567T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
PTPc 231 494 6.01e-130 SMART
PTPc 523 784 3.56e-132 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077303
AA Change: I603T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: I603T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
low complexity region 49 61 N/A INTRINSIC
low complexity region 127 142 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
PTPc 231 530 2.03e-118 SMART
PTPc 559 820 3.56e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000079964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230886
Predicted Effect probably benign
Transcript: ENSMUST00000230981
Coding Region Coverage
Validation Efficiency
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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,888,629 (GRCm39) E36K possibly damaging Het
Alox8 A T 11: 69,079,516 (GRCm39) S257R probably benign Het
Apc2 T C 10: 80,150,912 (GRCm39) S1960P probably damaging Het
Arhgap35 T C 7: 16,298,192 (GRCm39) N291S probably benign Het
AW551984 A T 9: 39,505,087 (GRCm39) D468E possibly damaging Het
B3gnt6 A C 7: 97,843,730 (GRCm39) F77V probably damaging Het
C1qtnf7 A T 5: 43,766,403 (GRCm39) M1L probably benign Het
Calm3 T C 7: 16,651,409 (GRCm39) T63A probably benign Het
Ccdc33 G A 9: 58,024,919 (GRCm39) probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Cdr2l A G 11: 115,273,192 (GRCm39) E15G probably damaging Het
Chil6 A G 3: 106,296,141 (GRCm39) W365R probably damaging Het
Ckap5 G T 2: 91,431,356 (GRCm39) R1525L probably benign Het
Col6a6 T A 9: 105,663,157 (GRCm39) K127* probably null Het
Dclre1b A G 3: 103,710,639 (GRCm39) V298A probably damaging Het
Fat1 T A 8: 45,479,837 (GRCm39) V2961E probably damaging Het
Fhit T C 14: 9,573,483 (GRCm38) D126G probably benign Het
Gpc1 T C 1: 92,784,736 (GRCm39) F303S probably damaging Het
Hsd17b4 T A 18: 50,324,881 (GRCm39) V698D probably damaging Het
Itpr2 C T 6: 146,277,560 (GRCm39) probably null Het
Klhl4 A T X: 113,432,091 (GRCm39) D168V probably damaging Het
Krt42 A G 11: 100,154,167 (GRCm39) L405P possibly damaging Het
Lrp1 A T 10: 127,417,634 (GRCm39) C85* probably null Het
Lrp2 A G 2: 69,312,611 (GRCm39) L2559P probably damaging Het
Maob T G X: 16,578,808 (GRCm39) R448S possibly damaging Het
Mast3 A G 8: 71,232,227 (GRCm39) V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,846,723 (GRCm39) V286M probably damaging Het
Mlip A G 9: 77,146,699 (GRCm39) I198T possibly damaging Het
Mocs3 T C 2: 168,073,297 (GRCm39) V248A probably damaging Het
Nxf2 T A X: 133,852,861 (GRCm39) R367S probably benign Het
Or10j3b T G 1: 173,043,695 (GRCm39) V159G probably benign Het
Or52z12 T C 7: 103,233,324 (GRCm39) W32R probably damaging Het
Parva T C 7: 112,176,217 (GRCm39) probably benign Het
Pot1a A T 6: 25,750,143 (GRCm39) probably benign Het
Rad9a T C 19: 4,251,336 (GRCm39) K33E probably benign Het
Rimbp3 A G 16: 17,028,958 (GRCm39) D794G probably damaging Het
Septin5 G A 16: 18,443,680 (GRCm39) R90C probably damaging Het
Skint8 T A 4: 111,794,103 (GRCm39) N164K probably damaging Het
Slc30a3 T G 5: 31,247,424 (GRCm39) I73L probably benign Het
Stab2 A T 10: 86,815,872 (GRCm39) probably benign Het
Tnc C T 4: 63,918,959 (GRCm39) V1155M probably damaging Het
Ttc13 T G 8: 125,410,024 (GRCm39) Q525P probably damaging Het
Ttn T C 2: 76,550,479 (GRCm39) E31601G probably damaging Het
Unc5a A T 13: 55,150,741 (GRCm39) D577V probably damaging Het
Usp18 G A 6: 121,238,380 (GRCm39) V176M probably benign Het
Vmn1r184 T C 7: 25,966,320 (GRCm39) V22A probably benign Het
Vmn1r33 T A 6: 66,588,865 (GRCm39) I230F probably damaging Het
Vmn1r51 A G 6: 90,106,386 (GRCm39) I101V probably benign Het
Vmn2r108 T A 17: 20,691,282 (GRCm39) M414L probably benign Het
Vmn2r87 A C 10: 130,308,429 (GRCm39) V603G probably benign Het
Wt1 A G 2: 104,963,319 (GRCm39) Y16C probably damaging Het
Wwp2 C T 8: 108,232,977 (GRCm39) T159I probably benign Het
Xirp2 T C 2: 67,344,427 (GRCm39) F2223L probably benign Het
Zan T A 5: 137,387,155 (GRCm39) H4966L unknown Het
Other mutations in Ptpra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Ptpra APN 2 130,385,997 (GRCm39) missense probably damaging 1.00
IGL02066:Ptpra APN 2 30,333,308 (GRCm39) missense possibly damaging 0.83
IGL02073:Ptpra APN 2 30,333,362 (GRCm39) missense probably damaging 1.00
IGL02201:Ptpra APN 2 30,336,389 (GRCm39) missense possibly damaging 0.91
IGL02218:Ptpra APN 2 130,394,255 (GRCm39) splice site probably benign
IGL02385:Ptpra APN 2 130,382,393 (GRCm39) unclassified probably benign
IGL02480:Ptpra APN 2 130,346,181 (GRCm39) missense probably benign 0.09
IGL03181:Ptpra APN 2 130,359,707 (GRCm39) missense probably damaging 0.99
R0374:Ptpra UTSW 2 130,379,541 (GRCm39) missense probably damaging 1.00
R0483:Ptpra UTSW 2 130,381,605 (GRCm39) missense probably damaging 1.00
R0848:Ptpra UTSW 2 130,360,911 (GRCm39) missense probably damaging 1.00
R1550:Ptpra UTSW 2 130,383,313 (GRCm39) missense possibly damaging 0.86
R1596:Ptpra UTSW 2 130,386,872 (GRCm39) missense probably damaging 1.00
R1602:Ptpra UTSW 2 30,327,602 (GRCm39) missense probably benign 0.22
R1689:Ptpra UTSW 2 130,345,412 (GRCm39) missense probably benign 0.01
R1760:Ptpra UTSW 2 130,391,747 (GRCm39) missense probably damaging 1.00
R1943:Ptpra UTSW 2 130,386,024 (GRCm39) missense probably damaging 1.00
R2114:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2115:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2117:Ptpra UTSW 2 130,381,655 (GRCm39) missense probably damaging 1.00
R2187:Ptpra UTSW 2 130,346,219 (GRCm39) missense probably benign
R2848:Ptpra UTSW 2 130,386,919 (GRCm39) missense probably benign 0.06
R2849:Ptpra UTSW 2 130,386,919 (GRCm39) missense probably benign 0.06
R3962:Ptpra UTSW 2 30,325,672 (GRCm39) missense probably damaging 1.00
R4080:Ptpra UTSW 2 30,333,317 (GRCm39) missense probably damaging 1.00
R4644:Ptpra UTSW 2 130,386,078 (GRCm39) missense probably damaging 1.00
R4779:Ptpra UTSW 2 130,379,537 (GRCm39) missense probably damaging 1.00
R4849:Ptpra UTSW 2 130,374,081 (GRCm39) missense probably damaging 1.00
R4899:Ptpra UTSW 2 130,386,356 (GRCm39) missense probably damaging 1.00
R5186:Ptpra UTSW 2 30,328,367 (GRCm39) critical splice donor site probably null
R5657:Ptpra UTSW 2 130,346,204 (GRCm39) missense probably benign 0.06
R6018:Ptpra UTSW 2 130,345,422 (GRCm39) missense probably benign
R6234:Ptpra UTSW 2 130,379,508 (GRCm39) missense probably damaging 1.00
R6350:Ptpra UTSW 2 130,382,512 (GRCm39) missense probably damaging 1.00
R6622:Ptpra UTSW 2 30,327,589 (GRCm39) missense probably damaging 1.00
R6856:Ptpra UTSW 2 130,361,301 (GRCm39) missense probably damaging 1.00
R7072:Ptpra UTSW 2 130,395,350 (GRCm39) missense probably damaging 1.00
R7146:Ptpra UTSW 2 130,379,571 (GRCm39) critical splice donor site probably null
R7220:Ptpra UTSW 2 130,386,417 (GRCm39) missense probably damaging 1.00
R7346:Ptpra UTSW 2 130,395,320 (GRCm39) missense probably damaging 1.00
R7819:Ptpra UTSW 2 130,346,126 (GRCm39) missense probably benign
R7943:Ptpra UTSW 2 30,322,056 (GRCm39) missense probably damaging 1.00
R8044:Ptpra UTSW 2 130,386,881 (GRCm39) missense possibly damaging 0.93
R8190:Ptpra UTSW 2 30,328,351 (GRCm39) missense probably damaging 1.00
R8231:Ptpra UTSW 2 130,379,523 (GRCm39) missense probably damaging 1.00
R8404:Ptpra UTSW 2 130,391,679 (GRCm39) missense probably damaging 1.00
R8422:Ptpra UTSW 2 130,374,091 (GRCm39) missense possibly damaging 0.86
R8502:Ptpra UTSW 2 130,391,679 (GRCm39) missense probably damaging 1.00
R8683:Ptpra UTSW 2 130,394,187 (GRCm39) missense possibly damaging 0.88
R8952:Ptpra UTSW 2 130,386,969 (GRCm39) missense probably damaging 1.00
R9147:Ptpra UTSW 2 30,328,256 (GRCm39) missense probably benign 0.21
R9147:Ptpra UTSW 2 30,328,255 (GRCm39) missense probably damaging 1.00
R9148:Ptpra UTSW 2 30,328,256 (GRCm39) missense probably benign 0.21
R9148:Ptpra UTSW 2 30,328,255 (GRCm39) missense probably damaging 1.00
R9717:Ptpra UTSW 2 130,384,366 (GRCm39) missense possibly damaging 0.81
Posted On 2013-11-05