Incidental Mutation 'R5657:Ptpra'
ID 442368
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 043171-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5657 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 130346204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 122 (E122K)
Ref Sequence ENSEMBL: ENSMUSP00000028769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]
AlphaFold P18052
Predicted Effect probably benign
Transcript: ENSMUST00000028769
AA Change: E122K

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: E122K

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 benign
Transcript: ENSMUST00000077303
AA Change: E122K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: E122K

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 benign
Transcript: ENSMUST00000230981
AA Change: E122K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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
Agbl5 A G 5: 31,051,390 (GRCm39) Y533C probably damaging Het
Ahnak T C 19: 8,991,979 (GRCm39) V4421A probably damaging Het
Bach1 A G 16: 87,516,173 (GRCm39) K238R probably benign Het
Bloc1s6 T A 2: 122,580,577 (GRCm39) V12D probably benign Het
Clca3b C A 3: 144,533,144 (GRCm39) L629F probably benign Het
Clhc1 A G 11: 29,511,431 (GRCm39) I292V probably benign Het
Col27a1 T C 4: 63,143,547 (GRCm39) S412P probably damaging Het
Col6a4 A G 9: 105,949,397 (GRCm39) I746T probably damaging Het
Cracr2a G A 6: 127,580,970 (GRCm39) A49T probably damaging Het
Cyb561d1 A G 3: 108,108,008 (GRCm39) I28T possibly damaging Het
Dnah11 T A 12: 117,847,352 (GRCm39) M4264L probably damaging Het
Dnajc13 A G 9: 104,105,736 (GRCm39) L412S probably damaging Het
Dpf3 T C 12: 83,371,785 (GRCm39) N150S probably damaging Het
Epha2 T C 4: 141,050,805 (GRCm39) C854R probably damaging Het
Fat2 G T 11: 55,201,507 (GRCm39) Y522* probably null Het
Foxm1 A T 6: 128,350,351 (GRCm39) S551C possibly damaging Het
Galnt12 T C 4: 47,104,150 (GRCm39) V136A possibly damaging Het
Gm6647 T G 5: 13,818,835 (GRCm39) noncoding transcript Het
Grin2b T A 6: 135,710,085 (GRCm39) I1154F possibly damaging Het
Hmcn1 A G 1: 150,534,313 (GRCm39) V2987A probably benign Het
Jade2 A G 11: 51,707,814 (GRCm39) S800P probably damaging Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or1e33 T C 11: 73,738,366 (GRCm39) N195S probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Plod1 T C 4: 148,003,238 (GRCm39) E529G possibly damaging Het
Plppr2 T C 9: 21,858,911 (GRCm39) C343R probably damaging Het
Prpf38a T C 4: 108,425,621 (GRCm39) D219G probably damaging Het
Rabl2 T C 15: 89,472,416 (GRCm39) M38V probably benign Het
Reep1 A G 6: 71,738,358 (GRCm39) M39V possibly damaging Het
Rsf1 GC GCGGCGGCGTC 7: 97,229,141 (GRCm39) probably benign Het
Slc26a10 T C 10: 127,010,833 (GRCm39) probably benign Het
Sun2 C A 15: 79,612,150 (GRCm39) E510* probably null Het
Tanc1 A G 2: 59,665,051 (GRCm39) probably null Het
Ticam1 TCACACA TCACA 17: 56,577,629 (GRCm39) probably null Het
Tor1aip1 G T 1: 155,883,234 (GRCm39) H205N probably damaging Het
Trpc6 C T 9: 8,609,808 (GRCm39) T92I probably benign Het
Vmn2r100 T A 17: 19,725,178 (GRCm39) F36I probably benign Het
Zfp787 T C 7: 6,136,053 (GRCm39) Y66C 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
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'- CCAAACCTGACTCTGGAGC -3'
(R):5'- TGCTAAGCAGGTATTAAGAATTGC -3'

Sequencing Primer
(F):5'- GAGCCCACCTATGTGACTACTG -3'
(R):5'- AGGGCATCTCTACACATGTG -3'
Posted On 2016-11-09