Incidental Mutation 'R8231:Ptpra'
ID 637133
Institutional Source Beutler Lab
Gene Symbol Ptpra
Ensembl Gene ENSMUSG00000027303
Gene Name protein tyrosine phosphatase receptor type A
Synonyms PTP[a], RPTRalpha, PTPalpha, RPTPalpha, Ptpa
MMRRC Submission 067663-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8231 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130379523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 359 (N359S)
Ref Sequence ENSEMBL: ENSMUSP00000076533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303]
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 benign
Transcript: ENSMUST00000028769
AA Change: N323S

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: N323S

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: N359S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: N359S

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C T 17: 85,000,213 (GRCm39) R258C probably damaging Het
Acsf2 C G 11: 94,452,188 (GRCm39) E451D probably benign Het
Adam34 A T 8: 44,104,659 (GRCm39) S329T probably benign Het
Adamts16 A G 13: 70,925,599 (GRCm39) I535T probably damaging Het
Atp6v0d2 A G 4: 19,881,451 (GRCm39) F214S probably damaging Het
Btg4 A G 9: 51,027,868 (GRCm39) T13A possibly damaging Het
Ccdc121 T A 5: 31,643,551 (GRCm39) C94S probably benign Het
Cplane1 T C 15: 8,248,511 (GRCm39) Y1687H probably benign Het
Csmd1 A T 8: 16,747,939 (GRCm39) S271T possibly damaging Het
Cul9 T C 17: 46,831,427 (GRCm39) T1596A probably damaging Het
Cyp2a4 G A 7: 26,012,362 (GRCm39) D382N probably benign Het
Dbh C T 2: 27,060,555 (GRCm39) R244C probably benign Het
Dennd11 A T 6: 40,395,546 (GRCm39) H187Q probably benign Het
Dnajc2 T C 5: 21,966,689 (GRCm39) K426R probably benign Het
Dock4 T A 12: 40,752,950 (GRCm39) M428K possibly damaging Het
Duox2 A T 2: 122,120,044 (GRCm39) M822K possibly damaging Het
Golga5 T C 12: 102,438,558 (GRCm39) V91A probably benign Het
Gpatch2l T C 12: 86,290,963 (GRCm39) S49P probably damaging Het
Ints7 T A 1: 191,328,465 (GRCm39) L246* probably null Het
Kntc1 A G 5: 123,920,959 (GRCm39) T926A possibly damaging Het
Kyat1 T C 2: 30,081,978 (GRCm39) T54A probably benign Het
Megf6 C G 4: 154,336,975 (GRCm39) C359W probably damaging Het
Mlh3 A G 12: 85,307,572 (GRCm39) probably null Het
Neb C A 2: 52,125,491 (GRCm39) probably null Het
Nyap2 A T 1: 81,169,846 (GRCm39) Q201L probably benign Het
Pibf1 T G 14: 99,423,997 (GRCm39) H523Q probably benign Het
Piezo1 A G 8: 123,232,836 (GRCm39) S133P Het
Pnma8b T C 7: 16,680,515 (GRCm39) C500R probably benign Het
Rce1 A T 19: 4,675,078 (GRCm39) I112N probably damaging Het
Rmdn1 T C 4: 19,586,853 (GRCm39) Y104H probably benign Het
Snx22 A T 9: 65,975,480 (GRCm39) D96E probably benign Het
Sox5 G T 6: 143,974,014 (GRCm39) Q245K probably damaging Het
Stat6 A G 10: 127,482,842 (GRCm39) D21G possibly damaging Het
Tbc1d15 T C 10: 115,065,045 (GRCm39) Y180C probably damaging Het
Tdrd6 T C 17: 43,933,026 (GRCm39) T2058A probably damaging Het
Thbs4 A T 13: 92,911,352 (GRCm39) V277E probably benign Het
Tmem255b A G 8: 13,504,225 (GRCm39) D139G probably damaging Het
Ttc27 C A 17: 75,024,959 (GRCm39) T18K probably benign Het
Zfp131 A G 13: 120,237,348 (GRCm39) F337L 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGTCGATACATGGGAAACATTC -3'
(R):5'- TTAGCCTGCCTGGACAATCTAC -3'

Sequencing Primer
(F):5'- CATGGGAAACATTCACTTGTCAGGTG -3'
(R):5'- CTGCCTGGACAATCTACTAGTGGAG -3'
Posted On 2020-07-13