Incidental Mutation 'IGL02385:Ptpra'
ID 291528
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 # IGL02385
Quality Score
Status
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 130382393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]
AlphaFold P18052
Predicted Effect probably benign
Transcript: ENSMUST00000028769
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303

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
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303

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: ENSMUST00000079964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230491
Predicted Effect probably benign
Transcript: ENSMUST00000230981
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,201,630 (GRCm39) D351E probably damaging Het
Adad2 A G 8: 120,341,773 (GRCm39) probably benign Het
Adamts8 A G 9: 30,873,026 (GRCm39) N744D probably benign Het
Atad5 C T 11: 79,985,453 (GRCm39) T180I probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bcl9 A T 3: 97,116,594 (GRCm39) I700K probably benign Het
Bcr T C 10: 74,981,235 (GRCm39) S685P probably damaging Het
Cd36 A G 5: 18,019,717 (GRCm39) V128A probably benign Het
Cfap20dc A G 14: 8,510,920 (GRCm38) V498A possibly damaging Het
Chd2 T C 7: 73,085,570 (GRCm39) Y1688C probably damaging Het
Csmd1 A G 8: 15,953,275 (GRCm39) V3402A probably benign Het
Dsg3 T C 18: 20,660,771 (GRCm39) V370A probably damaging Het
Dus4l A G 12: 31,690,674 (GRCm39) probably benign Het
Fcrlb A G 1: 170,735,168 (GRCm39) S320P probably damaging Het
Fer1l4 T C 2: 155,887,348 (GRCm39) D616G probably benign Het
Fxr2 C T 11: 69,543,095 (GRCm39) R631C possibly damaging Het
Gltpd2 T A 11: 70,410,822 (GRCm39) F152I probably damaging Het
Gpt2 T A 8: 86,242,782 (GRCm39) probably null Het
Hsd3b6 A T 3: 98,713,888 (GRCm39) I137K possibly damaging Het
Kcna6 A G 6: 126,715,917 (GRCm39) V324A probably benign Het
Kcnu1 C T 8: 26,422,298 (GRCm39) L188F probably damaging Het
Kdm1b A G 13: 47,221,982 (GRCm39) I474V possibly damaging Het
Kifap3 C T 1: 163,693,013 (GRCm39) Q602* probably null Het
Lrp4 T A 2: 91,305,065 (GRCm39) C231S possibly damaging Het
Lrrc63 T C 14: 75,323,640 (GRCm39) D528G probably benign Het
Nosip C A 7: 44,726,156 (GRCm39) R240S possibly damaging Het
Or11g26 T C 14: 50,752,900 (GRCm39) S80P probably damaging Het
Or4f57 G A 2: 111,790,603 (GRCm39) P272S probably benign Het
Or4k41 A G 2: 111,279,695 (GRCm39) D70G probably damaging Het
Orc5 A T 5: 22,731,438 (GRCm39) D231E probably damaging Het
Poli A T 18: 70,659,645 (GRCm39) M62K possibly damaging Het
Ppp1r13b A C 12: 111,801,477 (GRCm39) S402R probably damaging Het
Prl3b1 T C 13: 27,433,366 (GRCm39) S174P possibly damaging Het
Sfpq T A 4: 126,919,929 (GRCm39) probably null Het
Sh3bp1 T A 15: 78,790,088 (GRCm39) probably benign Het
Slc7a2 T G 8: 41,352,048 (GRCm39) V37G probably damaging Het
Smc1a A T X: 150,820,655 (GRCm39) E794D possibly damaging Het
Sox6 T C 7: 115,149,274 (GRCm39) R366G possibly damaging Het
Spaca7 A G 8: 12,636,498 (GRCm39) N108S possibly damaging Het
Spon1 T G 7: 113,365,567 (GRCm39) M1R probably null Het
Sult6b2 T C 6: 142,747,498 (GRCm39) R84G probably benign Het
Syt2 A G 1: 134,673,553 (GRCm39) N299S probably benign Het
Syvn1 T C 19: 6,098,570 (GRCm39) V104A probably damaging Het
Tbpl1 A G 10: 22,583,568 (GRCm39) L134P probably damaging Het
Tex11 A T X: 99,920,135 (GRCm39) probably benign Het
Tnfrsf21 A G 17: 43,350,942 (GRCm39) S369G probably damaging Het
Tram1l1 T C 3: 124,115,707 (GRCm39) V289A probably benign Het
Ttyh3 A T 5: 140,619,060 (GRCm39) F277L probably benign Het
Vmn2r17 T G 5: 109,582,247 (GRCm39) N545K probably damaging Het
Wdr20 A T 12: 110,759,657 (GRCm39) H181L probably benign Het
Zscan20 A G 4: 128,498,392 (GRCm39) M2T 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
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
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 2015-04-16