Incidental Mutation 'IGL01734:Ptpra'
ID 105625
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 # IGL01734
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 130385997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 568 (T568I)
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: T532I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: T532I

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: T568I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: T568I

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,697,371 (GRCm39) W210R possibly damaging Het
Aknad1 T C 3: 108,659,217 (GRCm39) M77T probably benign Het
Aox1 A T 1: 58,393,469 (GRCm39) I1210F possibly damaging Het
Brd8 A T 18: 34,747,858 (GRCm39) probably benign Het
Cdh23 T C 10: 60,139,292 (GRCm39) D3307G probably benign Het
Chsy1 T C 7: 65,821,058 (GRCm39) I431T probably damaging Het
Cobl A G 11: 12,204,980 (GRCm39) probably benign Het
Col28a1 T C 6: 8,158,134 (GRCm39) D308G probably damaging Het
Csmd3 A G 15: 48,048,700 (GRCm39) Y568H probably damaging Het
Dmrt3 T C 19: 25,599,947 (GRCm39) I264T probably damaging Het
Dusp22 G T 13: 30,880,235 (GRCm39) C52F probably damaging Het
Fbxw22 A C 9: 109,212,993 (GRCm39) M318R probably damaging Het
Ffar4 C T 19: 38,102,295 (GRCm39) T310M probably damaging Het
Fn1 A G 1: 71,658,644 (GRCm39) V1138A probably damaging Het
Glt6d1 T A 2: 25,684,505 (GRCm39) Y167F probably benign Het
Hydin T A 8: 111,217,421 (GRCm39) Y1436* probably null Het
Il12a G A 3: 68,598,888 (GRCm39) C2Y possibly damaging Het
Inpp5a T C 7: 139,034,006 (GRCm39) Y38H possibly damaging Het
Jmy A C 13: 93,596,159 (GRCm39) L490R probably damaging Het
Kif26a T A 12: 112,143,262 (GRCm39) L1172H probably benign Het
Kmo A T 1: 175,482,668 (GRCm39) M331L probably benign Het
Lonp1 G A 17: 56,923,026 (GRCm39) T627M probably damaging Het
Lrrc41 T C 4: 115,950,331 (GRCm39) probably null Het
Mast4 A T 13: 102,874,123 (GRCm39) S1556R probably damaging Het
Mmel1 A G 4: 154,976,408 (GRCm39) N490S probably benign Het
Mpped2 A G 2: 106,614,158 (GRCm39) D164G probably damaging Het
Nap1l1 A G 10: 111,328,760 (GRCm39) T230A probably benign Het
Nrap C A 19: 56,338,741 (GRCm39) A913S probably damaging Het
Nudt16 G T 9: 105,008,707 (GRCm39) Q65K probably benign Het
Or1e23 C A 11: 73,407,462 (GRCm39) A188S probably benign Het
Or5ac17 T G 16: 59,036,792 (GRCm39) L61F probably benign Het
Or5ac19 T A 16: 59,089,213 (GRCm39) K272N probably benign Het
Or5al5 T A 2: 85,962,012 (GRCm39) probably benign Het
Or6c76b T A 10: 129,692,671 (GRCm39) C95S probably benign Het
Parp14 A G 16: 35,678,970 (GRCm39) F333L probably benign Het
Pi4ka G T 16: 17,115,124 (GRCm39) Q1422K probably benign Het
Polr3c T C 3: 96,620,836 (GRCm39) E494G probably damaging Het
Prss42 C A 9: 110,627,411 (GRCm39) P49Q probably benign Het
Ring1 T C 17: 34,242,294 (GRCm39) D71G probably damaging Het
Siae T A 9: 37,542,782 (GRCm39) S193T probably damaging Het
Slf2 T C 19: 44,961,706 (GRCm39) probably null Het
Spinkl T A 18: 44,307,639 (GRCm39) K7N possibly damaging Het
Tbk1 G A 10: 121,407,888 (GRCm39) R82* probably null Het
Tcf12 T C 9: 71,829,930 (GRCm39) probably null Het
Tcl1b5 G A 12: 105,145,214 (GRCm39) M59I probably benign Het
Thumpd3 C A 6: 113,043,806 (GRCm39) T407K probably damaging Het
Timm29 T C 9: 21,505,031 (GRCm39) V233A probably damaging Het
Tns3 A G 11: 8,469,192 (GRCm39) probably benign Het
Ubash3b T C 9: 40,937,543 (GRCm39) probably benign Het
Ugdh G T 5: 65,580,031 (GRCm39) T253K probably benign Het
Zfp143 T A 7: 109,671,416 (GRCm39) probably benign Het
Zfp738 A G 13: 67,831,563 (GRCm39) probably benign Het
Other mutations in Ptpra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Ptpra APN 2 130,386,359 (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 2014-01-21