Incidental Mutation 'R7146:Ptpra'
ID 553761
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 045251-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7146 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 130379571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
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 null
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 probably null
Transcript: ENSMUST00000230981
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 95% (99/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,854,520 (GRCm39) I895F probably benign Het
Abca16 A G 7: 120,126,974 (GRCm39) N1222D possibly damaging Het
Abcc4 A T 14: 118,852,593 (GRCm39) Y499N probably damaging Het
Adgrg7 A C 16: 56,550,605 (GRCm39) C702W probably damaging Het
Adk C A 14: 21,376,682 (GRCm39) P27H Het
Ankrd13a T C 5: 114,913,293 (GRCm39) S2P probably damaging Het
Ano1 T C 7: 144,209,393 (GRCm39) H269R probably benign Het
Aox3 T A 1: 58,197,688 (GRCm39) probably null Het
Asl G A 5: 130,053,290 (GRCm39) probably benign Het
Asxl2 A T 12: 3,507,066 (GRCm39) D86V probably damaging Het
Ate1 A T 7: 130,083,508 (GRCm39) probably null Het
Bach2 A G 4: 32,562,670 (GRCm39) D379G probably damaging Het
Bdkrb1 T A 12: 105,571,142 (GRCm39) L236Q probably damaging Het
Cacna2d3 T C 14: 29,443,654 (GRCm39) Y24C unknown Het
Cage1 G T 13: 38,207,025 (GRCm39) N273K probably benign Het
Ccdc51 T A 9: 108,920,848 (GRCm39) I245N probably damaging Het
Cep152 T C 2: 125,456,325 (GRCm39) I229V probably benign Het
Chst4 T A 8: 110,757,363 (GRCm39) S167C probably damaging Het
Cntnap4 A T 8: 113,537,268 (GRCm39) Y713F probably damaging Het
Cntnap5b G A 1: 99,978,519 (GRCm39) probably null Het
Cog8 G T 8: 107,779,005 (GRCm39) T424K possibly damaging Het
Cop1 T G 1: 159,071,922 (GRCm39) probably null Het
Cyp2j6 A G 4: 96,434,019 (GRCm39) I97T probably damaging Het
D430041D05Rik T C 2: 104,088,698 (GRCm39) T131A probably benign Het
Dnah17 T C 11: 117,972,936 (GRCm39) D1999G probably damaging Het
Dnah8 A G 17: 30,863,591 (GRCm39) D250G probably benign Het
Dnah8 T C 17: 30,988,618 (GRCm39) V3196A possibly damaging Het
Dscam A T 16: 96,631,117 (GRCm39) Y299* probably null Het
Efcab3 A G 11: 104,858,578 (GRCm39) N3879S unknown Het
Efcab3 A C 11: 104,913,764 (GRCm39) D4594A probably benign Het
Ephb1 A G 9: 101,841,157 (GRCm39) S774P probably damaging Het
Fat1 G A 8: 45,403,962 (GRCm39) V238I probably benign Het
Fermt1 C T 2: 132,776,785 (GRCm39) M234I probably benign Het
Fmnl2 C T 2: 52,958,552 (GRCm39) S212L Het
Frem1 T C 4: 82,840,532 (GRCm39) N1798S possibly damaging Het
Gabrd T A 4: 155,469,863 (GRCm39) M449L probably benign Het
Gad1 T C 2: 70,417,706 (GRCm39) F302L probably benign Het
Gm10800 A AC 2: 98,497,378 (GRCm39) probably null Het
Gm21886 GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA GGGCCTGTAGACAGTAGGTGCTCA 18: 80,132,697 (GRCm39) probably benign Het
Gnb3 C T 6: 124,813,887 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,271,993 (GRCm39) M642K possibly damaging Het
Hps3 A T 3: 20,063,050 (GRCm39) W838R probably damaging Het
Ide A T 19: 37,273,343 (GRCm39) W527R Het
Ighe A T 12: 113,235,975 (GRCm39) I117N Het
Ighv1-50 T C 12: 115,083,396 (GRCm39) E108G probably benign Het
Ivl G A 3: 92,479,538 (GRCm39) P176S probably damaging Het
Lamb2 T A 9: 108,361,283 (GRCm39) L605Q possibly damaging Het
Lgi3 G A 14: 70,770,832 (GRCm39) R157H probably damaging Het
Lrp1b G T 2: 41,266,006 (GRCm39) C1053* probably null Het
Mcpt9 A T 14: 56,264,445 (GRCm39) S217T probably damaging Het
Mgat4c T G 10: 102,224,357 (GRCm39) N190K probably damaging Het
Mknk1 T A 4: 115,721,789 (GRCm39) V111D probably damaging Het
Mmp11 T C 10: 75,764,280 (GRCm39) T62A probably benign Het
Mmp1b C A 9: 7,385,014 (GRCm39) V212F probably damaging Het
Mmp7 A G 9: 7,697,587 (GRCm39) probably null Het
Muc5b C T 7: 141,417,704 (GRCm39) T3550M possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nphp3 A T 9: 103,882,036 (GRCm39) K169* probably null Het
Npy6r G T 18: 44,408,788 (GRCm39) V70F probably benign Het
Nsun2 T A 13: 69,774,672 (GRCm39) probably null Het
Oplah T A 15: 76,186,860 (GRCm39) I652F probably benign Het
Pcdh18 T C 3: 49,710,271 (GRCm39) N348S probably damaging Het
Pcdhb5 T A 18: 37,454,409 (GRCm39) V263D probably damaging Het
Pcdhga1 C A 18: 37,795,164 (GRCm39) T56N probably benign Het
Pdk4 A G 6: 5,491,068 (GRCm39) probably null Het
Pfkp C A 13: 6,652,817 (GRCm39) V434F probably benign Het
Phospho1 G A 11: 95,721,732 (GRCm39) R134H probably damaging Het
Polg2 G T 11: 106,663,572 (GRCm39) Q374K probably benign Het
Rassf3 C T 10: 121,252,052 (GRCm39) E120K probably benign Het
Reln A T 5: 22,311,095 (GRCm39) S273T probably damaging Het
Scarb1 C T 5: 125,361,089 (GRCm39) A133T probably benign Het
Scn3a T A 2: 65,313,486 (GRCm39) K1142N probably damaging Het
Sema3c G A 5: 17,899,701 (GRCm39) V398I probably benign Het
Serpine1 C A 5: 137,099,918 (GRCm39) Q80H probably damaging Het
Sh3gl1 G A 17: 56,324,646 (GRCm39) T334M probably damaging Het
Smg7 T C 1: 152,737,576 (GRCm39) N122D probably benign Het
Speer4b T C 5: 27,703,708 (GRCm39) I144V probably benign Het
Spire2 T A 8: 124,095,989 (GRCm39) D671E probably benign Het
Sspo A T 6: 48,478,029 (GRCm39) H5144L probably benign Het
Sstr2 A T 11: 113,516,179 (GRCm39) Q366L probably damaging Het
Ssu72 T C 4: 155,815,850 (GRCm39) F98S probably damaging Het
Syde2 C T 3: 145,712,870 (GRCm39) Q1003* probably null Het
Tapbp G A 17: 34,144,461 (GRCm39) A186T possibly damaging Het
Tcf12 T A 9: 71,790,385 (GRCm39) probably null Het
Tnfrsf22 A T 7: 143,194,556 (GRCm39) C124S probably damaging Het
Txlnb A T 10: 17,703,546 (GRCm39) T235S possibly damaging Het
Uaca T C 9: 60,777,695 (GRCm39) L694P probably damaging Het
Unc13a T A 8: 72,083,197 (GRCm39) N1620Y probably damaging Het
Vmn2r10 C T 5: 109,151,200 (GRCm39) C138Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r28 T A 7: 5,484,495 (GRCm39) E568D probably benign Het
Vmn2r57 A T 7: 41,097,895 (GRCm39) H57Q possibly damaging Het
Vwa5b1 A G 4: 138,308,923 (GRCm39) S756P probably benign Het
Washc5 C A 15: 59,224,350 (GRCm39) E470* probably null Het
Xpot A T 10: 121,442,678 (GRCm39) V508D probably damaging Het
Zfp616 A T 11: 73,976,087 (GRCm39) K785N possibly damaging Het
Zfp653 T C 9: 21,977,195 (GRCm39) N119D probably damaging Het
Zfp729b A G 13: 67,741,495 (GRCm39) S257P probably damaging Het
Zfp82 T A 7: 29,755,592 (GRCm39) T497S probably benign Het
Znrf4 T G 17: 56,819,305 (GRCm39) M1L probably benign 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
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'- TCACTTGTCAGGTGGATGAATG -3'
(R):5'- TGAAGTTTCCAGGCTACAGGAAG -3'

Sequencing Primer
(F):5'- GATATCCCCCTGAAGATATGTAGGC -3'
(R):5'- AGAGACACATTAGCCTGCCTGG -3'
Posted On 2019-05-15