Incidental Mutation 'R2115:Ptpra'
ID 233001
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 040119-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2115 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130381655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 372 (R372L)
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: R372L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: R372L

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: R408L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: R408L

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: ENSMUST00000230615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230491
Predicted Effect probably benign
Transcript: ENSMUST00000230981
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230886
Meta Mutation Damage Score 0.7208 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (95/97)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,900,562 (GRCm39) T1195A probably benign Het
Abca12 A T 1: 71,283,930 (GRCm39) N2547K probably benign Het
Abca16 A C 7: 120,139,868 (GRCm39) E1510A probably damaging Het
Adam5 A G 8: 25,234,161 (GRCm39) probably benign Het
Akna G A 4: 63,313,397 (GRCm39) P242L probably benign Het
Akr1b7 G A 6: 34,395,929 (GRCm39) A144T possibly damaging Het
Ankhd1 T A 18: 36,767,361 (GRCm39) S1167T probably damaging Het
Arf5 C T 6: 28,424,783 (GRCm39) Q71* probably null Het
Ark2n T C 18: 77,762,168 (GRCm39) D48G possibly damaging Het
Arl15 C T 13: 114,104,196 (GRCm39) S111F probably damaging Het
Atxn1l C T 8: 110,459,240 (GRCm39) A341T probably benign Het
Birc7 C A 2: 180,572,642 (GRCm39) Q138K possibly damaging Het
Blvra G T 2: 126,927,989 (GRCm39) E80* probably null Het
Ccdc148 T C 2: 58,892,128 (GRCm39) E188G probably damaging Het
Chad C T 11: 94,459,052 (GRCm39) A318V probably benign Het
Cntfr A G 4: 41,663,534 (GRCm39) probably null Het
Dnah17 C T 11: 118,010,628 (GRCm39) C230Y probably benign Het
Dnmt3l C A 10: 77,899,130 (GRCm39) L110I probably damaging Het
Dusp11 T C 6: 85,935,651 (GRCm39) D74G probably damaging Het
Duxf4 T C 10: 58,072,073 (GRCm39) D47G possibly damaging Het
Eif3m T C 2: 104,837,141 (GRCm39) T61A probably damaging Het
Esyt1 T A 10: 128,357,973 (GRCm39) D212V probably damaging Het
Exoc4 T A 6: 33,324,760 (GRCm39) N351K possibly damaging Het
F13a1 A T 13: 37,172,831 (GRCm39) I183N probably damaging Het
Fam83f T G 15: 80,576,468 (GRCm39) V373G possibly damaging Het
Fam83h A T 15: 75,874,146 (GRCm39) Y1064N probably damaging Het
Flrt3 G T 2: 140,503,423 (GRCm39) N68K probably damaging Het
Fut7 C A 2: 25,315,343 (GRCm39) Y153* probably null Het
Gm10277 TC T 11: 77,676,828 (GRCm39) probably null Het
Gm1527 T C 3: 28,972,098 (GRCm39) L405P probably benign Het
Heatr6 T A 11: 83,648,281 (GRCm39) probably benign Het
Herc2 T C 7: 55,835,576 (GRCm39) probably benign Het
Ints14 T G 9: 64,887,077 (GRCm39) L336R probably damaging Het
Irak1 G T X: 73,066,218 (GRCm39) P197Q possibly damaging Het
Kat7 C T 11: 95,194,120 (GRCm39) R60Q probably benign Het
Katnal2 T C 18: 77,067,787 (GRCm39) R385G probably damaging Het
Kcnt2 G T 1: 140,480,701 (GRCm39) L755F probably damaging Het
Kif4 A G X: 99,709,323 (GRCm39) S315G probably benign Het
Kifc3 A G 8: 95,835,341 (GRCm39) Y178H probably damaging Het
Krit1 A T 5: 3,872,108 (GRCm39) R378* probably null Het
L3mbtl1 T A 2: 162,801,990 (GRCm39) probably null Het
Lama3 C A 18: 12,535,906 (GRCm39) T204N possibly damaging Het
Lama5 A G 2: 179,828,678 (GRCm39) C2090R probably damaging Het
Mb G T 15: 76,906,759 (GRCm39) Q9K probably benign Het
Mipep T C 14: 61,024,829 (GRCm39) V90A probably damaging Het
Myo3a A T 2: 22,250,342 (GRCm39) I70F probably damaging Het
Napa A G 7: 15,848,134 (GRCm39) D217G possibly damaging Het
Nectin2 T C 7: 19,451,489 (GRCm39) D515G probably damaging Het
Nkx2-6 T A 14: 69,409,288 (GRCm39) V13E probably damaging Het
Nmi T C 2: 51,838,719 (GRCm39) T272A probably benign Het
Nptx2 G C 5: 144,492,216 (GRCm39) G331A probably damaging Het
Or2q1 A G 6: 42,794,431 (GRCm39) T9A possibly damaging Het
Or4c122 T C 2: 89,079,874 (GRCm39) I55V probably damaging Het
Or5h17 T C 16: 58,820,783 (GRCm39) L245P possibly damaging Het
Or7g34 T C 9: 19,478,618 (GRCm39) T18A probably benign Het
Parp14 T C 16: 35,678,904 (GRCm39) T355A probably benign Het
Pcdh12 T C 18: 38,417,039 (GRCm39) T29A probably damaging Het
Pced1b T A 15: 97,282,505 (GRCm39) C181* probably null Het
Phka1 C T X: 101,653,807 (GRCm39) R290H probably damaging Het
Pick1 T A 15: 79,139,781 (GRCm39) probably benign Het
Pitrm1 A T 13: 6,607,809 (GRCm39) Y268F probably damaging Het
Polr2h T C 16: 20,537,737 (GRCm39) probably benign Het
Ppfia2 A T 10: 106,597,972 (GRCm39) K178N probably damaging Het
Prkag1 T C 15: 98,712,433 (GRCm39) Y133C probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Qrich2 A G 11: 116,337,982 (GRCm39) V1887A probably damaging Het
Ralgapa1 T C 12: 55,833,134 (GRCm39) probably null Het
Rassf9 A G 10: 102,380,806 (GRCm39) T63A probably benign Het
Rdh11 G T 12: 79,222,996 (GRCm39) Q292K probably benign Het
Rere C A 4: 150,697,018 (GRCm39) probably benign Het
Rgs18 G T 1: 144,629,629 (GRCm39) T210K possibly damaging Het
Rnf213 A G 11: 119,318,839 (GRCm39) N1099S probably benign Het
Ros1 T C 10: 52,004,651 (GRCm39) I969V probably benign Het
Rrh T C 3: 129,604,336 (GRCm39) I288M probably damaging Het
Rrp12 C T 19: 41,879,533 (GRCm39) V174I probably benign Het
Rtf1 T A 2: 119,535,999 (GRCm39) H184Q probably benign Het
Sbk3 A G 7: 4,970,415 (GRCm39) L318S possibly damaging Het
Scn9a T C 2: 66,314,396 (GRCm39) E1774G probably damaging Het
Sec11c A T 18: 65,933,720 (GRCm39) T9S probably benign Het
Sec23ip G A 7: 128,364,185 (GRCm39) V488I probably benign Het
Serpine3 T C 14: 62,910,459 (GRCm39) L184P probably damaging Het
Slc26a2 T C 18: 61,331,896 (GRCm39) T512A possibly damaging Het
Slc49a4 T C 16: 35,518,309 (GRCm39) D468G probably benign Het
Smpd4 T C 16: 17,444,729 (GRCm39) Y118H probably benign Het
Tcof1 T C 18: 60,965,857 (GRCm39) E415G possibly damaging Het
Ttc33 G A 15: 5,241,534 (GRCm39) V120I probably benign Het
Usp20 T A 2: 30,906,317 (GRCm39) C562S probably damaging Het
Utp20 T C 10: 88,621,865 (GRCm39) D1136G probably benign Het
Vgll1 A C X: 56,137,790 (GRCm39) K53T probably damaging Het
Yars1 T G 4: 129,101,716 (GRCm39) probably null Het
Zfp472 A G 17: 33,196,988 (GRCm39) I354M possibly damaging Het
Zfp786 A G 6: 47,803,931 (GRCm39) V37A 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
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'- TAACCCTTTAGCTGACAGACG -3'
(R):5'- AGGAGTTCCTGGAGGTCAGATC -3'

Sequencing Primer
(F):5'- CCTTTAGCTGACAGACGTGACAG -3'
(R):5'- TCAGATCCCTGGTTGCAGAAC -3'
Posted On 2014-09-18