Incidental Mutation 'IGL02201:Ptpra'
ID 284183
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 # IGL02201
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 30336389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 80 (C80S)
Ref Sequence ENSEMBL: ENSMUSP00000109231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042055] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000131476] [ENSMUST00000136009]
AlphaFold P18052
Predicted Effect probably benign
Transcript: ENSMUST00000042055
AA Change: C299S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515
AA Change: C299S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 26 319 1.5e-126 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113601
AA Change: C80S

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515
AA Change: C80S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 38 104 5.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113603
AA Change: C257S

PolyPhen 2 Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515
AA Change: C257S

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 64 280 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125561
SMART Domains Protein: ENSMUSP00000114290
Gene: ENSMUSG00000039515

DomainStartEndE-ValueType
Pfam:PTPA 1 125 6.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130741
Predicted Effect probably benign
Transcript: ENSMUST00000131476
AA Change: C37S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000116268
Gene: ENSMUSG00000039515
AA Change: C37S

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136009
AA Change: C37S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114985
Gene: ENSMUSG00000039515
AA Change: C37S

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135105
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137741
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,676,870 (GRCm39) G484R probably damaging Het
Adgrb3 A G 1: 25,459,631 (GRCm39) probably benign Het
Akr1c14 A G 13: 4,131,022 (GRCm39) D238G probably damaging Het
Ccdc88b T A 19: 6,823,999 (GRCm39) D1418V probably damaging Het
Cnnm4 A T 1: 36,511,831 (GRCm39) K353M probably damaging Het
Col6a6 A G 9: 105,658,194 (GRCm39) F673L probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dyrk1a A G 16: 94,493,008 (GRCm39) E747G probably benign Het
Eml5 T A 12: 98,760,683 (GRCm39) probably benign Het
Ercc6l2 A G 13: 64,000,783 (GRCm39) N516D probably benign Het
Fbxl17 A G 17: 63,806,024 (GRCm39) L330P probably damaging Het
Fgr A T 4: 132,722,235 (GRCm39) Y168F probably damaging Het
Frem2 T G 3: 53,427,061 (GRCm39) K2962N probably benign Het
Hdac4 G T 1: 91,915,382 (GRCm39) probably null Het
Il1r1 A T 1: 40,352,428 (GRCm39) N533Y probably damaging Het
Kcnab2 T C 4: 152,486,375 (GRCm39) probably benign Het
Knl1 C T 2: 118,899,633 (GRCm39) P445S probably benign Het
Lamb2 G A 9: 108,364,741 (GRCm39) C1165Y probably damaging Het
Nisch C T 14: 30,909,051 (GRCm39) probably benign Het
Or1i2 C T 10: 78,448,104 (GRCm39) V124M probably damaging Het
Or2m12 A T 16: 19,105,212 (GRCm39) S94T probably benign Het
Or8b40 A G 9: 38,027,893 (GRCm39) D267G probably benign Het
Or8h7 A G 2: 86,721,420 (GRCm39) L33P probably damaging Het
Pde3b T A 7: 114,133,843 (GRCm39) M953K probably damaging Het
Pdzph1 A G 17: 59,274,506 (GRCm39) probably benign Het
Plce1 T C 19: 38,757,890 (GRCm39) probably benign Het
Prr23a3 G T 9: 98,747,297 (GRCm39) V84L possibly damaging Het
Psg26 A G 7: 18,214,071 (GRCm39) V197A probably benign Het
Ripk4 A T 16: 97,556,377 (GRCm39) V122E possibly damaging Het
Scd2 A G 19: 44,289,779 (GRCm39) N258S probably damaging Het
Slc38a1 A T 15: 96,476,679 (GRCm39) V394E probably damaging Het
Slc7a15 A G 12: 8,589,023 (GRCm39) S175P possibly damaging Het
Tacc2 T A 7: 130,227,942 (GRCm39) D1542E possibly damaging Het
Trim67 G T 8: 125,520,797 (GRCm39) R53L probably benign Het
Urah A T 7: 140,415,576 (GRCm39) T38S probably damaging Het
Vps13c A G 9: 67,874,418 (GRCm39) S3362G probably damaging Het
Wwc1 T C 11: 35,734,978 (GRCm39) probably benign Het
Zfyve28 T C 5: 34,400,549 (GRCm39) T50A probably damaging Het
Other mutations in Ptpra
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01411:Ptpra APN 2 130,386,359 (GRCm39) missense probably damaging 1.00
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
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 2015-04-16