Incidental Mutation 'R0374:Ptpra'
ID 38498
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 038580-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0374 (G1)
Quality Score 199
Status Validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 130379541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 329 (M329K)
Ref Sequence ENSEMBL: ENSMUSP00000028769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]
AlphaFold P18052
Predicted Effect probably damaging
Transcript: ENSMUST00000028769
AA Change: M329K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: M329K

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: M365K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: M365K

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: ENSMUST00000229567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230516
Predicted Effect probably damaging
Transcript: ENSMUST00000230981
AA Change: M338K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230640
Meta Mutation Damage Score 0.9022 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.9%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 A G 7: 140,687,727 (GRCm39) I267T probably damaging Het
Anxa6 T A 11: 54,896,654 (GRCm39) N168I probably benign Het
Apbb1ip A G 2: 22,709,717 (GRCm39) probably benign Het
Aqr G A 2: 113,961,092 (GRCm39) H723Y probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Car13 A G 3: 14,721,357 (GRCm39) probably benign Het
Casp9 T A 4: 141,534,484 (GRCm39) I298N possibly damaging Het
Ccdc66 T C 14: 27,220,430 (GRCm39) E261G probably damaging Het
Cep192 T A 18: 67,951,954 (GRCm39) Y376* probably null Het
Cped1 T A 6: 22,222,545 (GRCm39) probably benign Het
Ctbp2 A T 7: 132,601,073 (GRCm39) S563R possibly damaging Het
Ctdp1 A G 18: 80,490,637 (GRCm39) probably null Het
Dgka G C 10: 128,556,952 (GRCm39) probably benign Het
Drd2 A G 9: 49,311,084 (GRCm39) T112A probably benign Het
Dusp1 A G 17: 26,727,143 (GRCm39) V52A probably damaging Het
Eea1 T A 10: 95,875,634 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,288 (GRCm39) V86A probably benign Het
Fbn1 A T 2: 125,163,596 (GRCm39) C2087S possibly damaging Het
Fosb T G 7: 19,041,075 (GRCm39) R139S probably damaging Het
Foxm1 C T 6: 128,349,566 (GRCm39) R362W probably damaging Het
Frem2 A G 3: 53,561,381 (GRCm39) V1042A probably damaging Het
Gbe1 A G 16: 70,280,802 (GRCm39) H401R probably benign Het
Gm10549 C T 18: 33,597,235 (GRCm39) probably benign Het
Golga7b A T 19: 42,251,758 (GRCm39) probably benign Het
H2-DMb1 T C 17: 34,378,399 (GRCm39) V235A probably benign Het
Hr A G 14: 70,793,916 (GRCm39) T59A probably benign Het
Itpr2 C A 6: 146,260,890 (GRCm39) A588S probably benign Het
Kmt2c G A 5: 25,514,706 (GRCm39) P3046S probably damaging Het
Lamc1 G A 1: 153,126,811 (GRCm39) probably benign Het
Lrp2 A G 2: 69,260,651 (GRCm39) Y4527H probably damaging Het
Map3k2 G A 18: 32,345,226 (GRCm39) probably null Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Nfs1 C G 2: 155,974,580 (GRCm39) G212R probably damaging Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Nrap T A 19: 56,340,054 (GRCm39) Y740F probably damaging Het
Nup205 T A 6: 35,185,772 (GRCm39) M859K probably damaging Het
Nxf1 T C 19: 8,745,103 (GRCm39) F451S possibly damaging Het
Or5an1c A T 19: 12,218,505 (GRCm39) N173K probably damaging Het
Or6c6c G A 10: 129,541,516 (GRCm39) M256I probably benign Het
Pcdhac2 T C 18: 37,278,720 (GRCm39) Y567H probably damaging Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pi4ka A G 16: 17,100,796 (GRCm39) probably benign Het
Pmpcb A G 5: 21,953,829 (GRCm39) D359G probably damaging Het
Poll T G 19: 45,546,309 (GRCm39) S244R probably benign Het
Prkd3 T C 17: 79,264,644 (GRCm39) D657G probably null Het
Prune2 G A 19: 17,098,274 (GRCm39) M1259I probably benign Het
Rbm10 GGGAGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG GGGAGGAGGAGGAGGAGGATGAGGAGGAGGAGGAGGAG X: 20,503,798 (GRCm39) probably benign Het
Rbm15 G T 3: 107,237,880 (GRCm39) D839E probably damaging Het
Sap30bp T A 11: 115,855,103 (GRCm39) I271N probably damaging Het
Scart2 T A 7: 139,828,874 (GRCm39) C178S probably damaging Het
Scn3a A T 2: 65,338,918 (GRCm39) V587E probably damaging Het
Setdb1 A T 3: 95,232,164 (GRCm39) probably benign Het
Sgk3 T A 1: 9,949,306 (GRCm39) probably null Het
Shox2 A T 3: 66,881,184 (GRCm39) H265Q probably damaging Het
Slc9a2 T C 1: 40,783,017 (GRCm39) F427S possibly damaging Het
Smarca5 T A 8: 81,463,360 (GRCm39) Q69H probably benign Het
Specc1l T A 10: 75,084,293 (GRCm39) F672Y probably damaging Het
Ssh2 T A 11: 77,298,969 (GRCm39) S105R probably damaging Het
Syne2 C T 12: 75,968,000 (GRCm39) R917* probably null Het
Tbc1d2 G A 4: 46,649,913 (GRCm39) T41M possibly damaging Het
Tbx18 T A 9: 87,606,408 (GRCm39) I246F probably damaging Het
Tcf4 T A 18: 69,814,883 (GRCm39) probably benign Het
Tmed2 C A 5: 124,679,502 (GRCm39) probably null Het
Tmem243 A T 5: 9,151,361 (GRCm39) D15V possibly damaging Het
Vmn2r87 T A 10: 130,307,848 (GRCm39) S797C probably damaging Het
Vps13c T A 9: 67,793,528 (GRCm39) probably benign Het
Wls T A 3: 159,603,074 (GRCm39) C162* probably null Het
Zbtb7c C T 18: 76,270,464 (GRCm39) T184I probably benign Het
Zc3h13 A G 14: 75,546,405 (GRCm39) K169E 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
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
Predicted Primers PCR Primer
(F):5'- GGTACACACATGGTCGATACATGGG -3'
(R):5'- AGAGACACATTAGCCTGCCTGGAC -3'

Sequencing Primer
(F):5'- CATGGTCGATACATGGGAAACATTC -3'
(R):5'- ATTAGCCTGCCTGGACAATCTAC -3'
Posted On 2013-05-23