Incidental Mutation 'R8422:Ptpra'
ID 653240
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 067817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8422 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130374091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 265 (I265N)
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: I265N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: I265N

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 possibly damaging
Transcript: ENSMUST00000077303
AA Change: I265N

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: I265N

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 probably damaging
Transcript: ENSMUST00000230981
AA Change: I274N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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
3425401B19Rik G T 14: 32,384,254 (GRCm39) S570R possibly damaging Het
4921517D22Rik T C 13: 59,839,443 (GRCm39) M1V probably null Het
4921524J17Rik T G 8: 86,138,918 (GRCm39) K57T possibly damaging Het
4930596D02Rik G T 14: 35,532,009 (GRCm39) Q189K probably benign Het
Anapc1 T C 2: 128,517,757 (GRCm39) T296A probably benign Het
Aqp7 T A 4: 41,035,622 (GRCm39) M78L probably benign Het
C1qtnf5 C A 9: 44,019,961 (GRCm39) A195E possibly damaging Het
Calhm2 T C 19: 47,121,579 (GRCm39) I197V probably benign Het
Ccdc186 G A 19: 56,801,617 (GRCm39) L167F probably benign Het
Ccr3 T C 9: 123,828,799 (GRCm39) Y45H probably damaging Het
Cct3 G C 3: 88,208,126 (GRCm39) R38P probably damaging Het
Clstn2 T C 9: 97,340,239 (GRCm39) D711G probably benign Het
Dab2ip T A 2: 35,597,767 (GRCm39) I157N probably damaging Het
Dchs2 T C 3: 83,232,570 (GRCm39) V2185A probably benign Het
Dis3l2 A G 1: 86,782,099 (GRCm39) T219A probably benign Het
F2rl3 G T 8: 73,489,813 (GRCm39) V347L probably benign Het
Fastkd1 A G 2: 69,532,778 (GRCm39) S530P probably damaging Het
Fgfr3 T A 5: 33,892,249 (GRCm39) Y689* probably null Het
Gm10521 A G 1: 171,724,026 (GRCm39) I112M unknown Het
Gm9736 C A 10: 77,586,714 (GRCm39) V159F unknown Het
Hba-x A T 11: 32,227,736 (GRCm39) H88L probably benign Het
Il12rb2 A T 6: 67,337,800 (GRCm39) V27E probably benign Het
Imp4 G T 1: 34,482,997 (GRCm39) G196V probably damaging Het
Itga11 A C 9: 62,674,960 (GRCm39) I831L probably benign Het
Macf1 C T 4: 123,303,279 (GRCm39) V408I possibly damaging Het
Nedd4 T A 9: 72,649,964 (GRCm39) D771E probably damaging Het
Noc3l T C 19: 38,795,547 (GRCm39) Y413C probably benign Het
Npas3 C A 12: 54,115,292 (GRCm39) T738K probably benign Het
Ntrk2 A T 13: 59,133,715 (GRCm39) D498V probably damaging Het
Nyap1 T C 5: 137,734,083 (GRCm39) T317A probably benign Het
Or10g7 T C 9: 39,905,850 (GRCm39) L248P probably damaging Het
Or14a256 T A 7: 86,265,466 (GRCm39) H129L probably benign Het
Or4c107 T C 2: 88,789,341 (GRCm39) M177T probably benign Het
Or5d47 T A 2: 87,804,143 (GRCm39) I289L probably benign Het
Pcdhb20 A T 18: 37,637,849 (GRCm39) D125V probably damaging Het
Phc3 G A 3: 30,984,039 (GRCm39) Q692* probably null Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Ppp1r12a T A 10: 108,077,042 (GRCm39) H339Q probably benign Het
Ppp1r3a G A 6: 14,718,434 (GRCm39) Q827* probably null Het
Rabggta G T 14: 55,955,915 (GRCm39) H447Q probably benign Het
Ralgps1 T C 2: 33,062,442 (GRCm39) D277G possibly damaging Het
Riok3 A T 18: 12,269,869 (GRCm39) E100V probably null Het
Rtcb C T 10: 85,779,168 (GRCm39) V362M probably benign Het
Scd2 G T 19: 44,289,743 (GRCm39) C246F probably benign Het
Slco6c1 T C 1: 97,053,508 (GRCm39) E131G probably damaging Het
Tanc2 A G 11: 105,726,014 (GRCm39) M393V probably benign Het
Tas2r136 A T 6: 132,754,290 (GRCm39) I279N probably damaging Het
Tbx3 G T 5: 119,818,581 (GRCm39) K405N possibly damaging Het
Thumpd2 A T 17: 81,334,373 (GRCm39) V405D probably damaging Het
Tlr12 A G 4: 128,510,427 (GRCm39) S608P probably damaging Het
Wfs1 T C 5: 37,131,219 (GRCm39) K165E probably benign Het
Zfp810 C A 9: 22,194,518 (GRCm39) E57* probably null 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
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
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'- TAGGCTGGTAATATTCACCTGG -3'
(R):5'- ACCTGACTGTGTGTTGCCTG -3'

Sequencing Primer
(F):5'- AATATTCACCTGGGTCTGTGTC -3'
(R):5'- CTGGGGGATTGGGGGTACAC -3'
Posted On 2020-10-20