Incidental Mutation 'IGL02073:Ptpra'
ID 185907
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 # IGL02073
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30333362 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 64 (S64P)
Ref Sequence ENSEMBL: ENSMUSP00000109231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042055] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000131476] [ENSMUST00000136009]
AlphaFold P18052
Predicted Effect possibly damaging
Transcript: ENSMUST00000042055
AA Change: S283P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515
AA Change: S283P

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 26 319 1.5e-126 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113601
AA Change: S64P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515
AA Change: S64P

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 38 104 5.7e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113603
AA Change: S241P

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515
AA Change: S241P

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 64 280 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125561
AA Change: S96P

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114290
Gene: ENSMUSG00000039515
AA Change: S96P

DomainStartEndE-ValueType
Pfam:PTPA 1 125 6.1e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130741
Predicted Effect possibly damaging
Transcript: ENSMUST00000131476
AA Change: S21P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116268
Gene: ENSMUSG00000039515
AA Change: S21P

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136009
AA Change: S21P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114985
Gene: ENSMUSG00000039515
AA Change: S21P

DomainStartEndE-ValueType
Pfam:PTPA 1 61 8.3e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135105
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 156,914,039 (GRCm39) probably benign Het
6330409D20Rik T G 2: 32,630,698 (GRCm39) probably benign Het
Als2cl A G 9: 110,723,407 (GRCm39) K659E probably benign Het
Bbx G A 16: 50,022,854 (GRCm39) T702I probably damaging Het
Bcas3 A G 11: 85,448,263 (GRCm39) D405G probably damaging Het
Brpf3 A G 17: 29,026,370 (GRCm39) Y481C probably benign Het
Csnk1g1 T A 9: 65,909,533 (GRCm39) Y217N probably damaging Het
Cyp4f37 G T 17: 32,846,825 (GRCm39) V171L possibly damaging Het
Dock8 G A 19: 25,178,350 (GRCm39) probably null Het
Extl3 C A 14: 65,313,788 (GRCm39) G465W probably damaging Het
Fbxo10 A G 4: 45,046,349 (GRCm39) I587T possibly damaging Het
Fstl5 A C 3: 76,566,959 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,667,547 (GRCm39) N866S probably benign Het
Gm4871 T A 5: 144,969,388 (GRCm39) K44* probably null Het
Hnrnpul1 T C 7: 25,421,766 (GRCm39) probably benign Het
Jup A G 11: 100,274,215 (GRCm39) probably benign Het
Mccc2 A T 13: 100,136,783 (GRCm39) H57Q probably benign Het
Myo1a A T 10: 127,546,094 (GRCm39) D239V probably damaging Het
Ncapd3 T A 9: 26,974,612 (GRCm39) S695T probably benign Het
Ncor1 A T 11: 62,249,743 (GRCm39) S1052T probably damaging Het
Or5k8 A G 16: 58,644,169 (GRCm39) I301T probably benign Het
Or7g12 T A 9: 18,899,621 (GRCm39) N112K possibly damaging Het
Or8c10 C T 9: 38,279,603 (GRCm39) H244Y probably damaging Het
Pcnx3 A T 19: 5,729,414 (GRCm39) I526K probably damaging Het
Pcnx4 A G 12: 72,621,102 (GRCm39) D974G possibly damaging Het
Peg3 T C 7: 6,714,001 (GRCm39) E407G probably damaging Het
Polk A G 13: 96,641,059 (GRCm39) V166A probably damaging Het
Prkar2a A G 9: 108,610,322 (GRCm39) I184V probably damaging Het
Rbsn A G 6: 92,166,340 (GRCm39) L768P probably damaging Het
Ripk3 C T 14: 56,023,482 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1b T C 11: 51,680,020 (GRCm39) probably benign Het
Slx A T X: 26,489,755 (GRCm39) W89R probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,070,104 (GRCm39) I2561V probably benign Het
Tasor2 T C 13: 3,624,721 (GRCm39) D1743G probably benign Het
Tm7sf3 A G 6: 146,525,208 (GRCm39) L79P possibly damaging Het
Trub1 A T 19: 57,441,379 (GRCm39) M1L probably benign Het
Unc80 A G 1: 66,651,386 (GRCm39) D1577G possibly damaging Het
Vat1 A T 11: 101,351,405 (GRCm39) M312K possibly damaging Het
Vmn1r17 T C 6: 57,337,787 (GRCm39) I193V probably benign Het
Vps13b A G 15: 35,875,732 (GRCm39) I2706V possibly damaging Het
Wls T C 3: 159,612,890 (GRCm39) probably null Het
Zfp955b A G 17: 33,519,564 (GRCm39) T11A possibly 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
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 2014-05-07