Incidental Mutation 'R7346:Ptpra'
ID 570183
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 045373-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7346 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 130395320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 808 (Y808D)
Ref Sequence ENSEMBL: ENSMUSP00000076533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303]
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 damaging
Transcript: ENSMUST00000028769
AA Change: Y772D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: Y772D

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: Y808D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: Y808D

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 100% (71/71)
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
4930563M21Rik G A 9: 55,914,587 (GRCm39) P52S unknown Het
Adarb2 A G 13: 8,620,420 (GRCm39) E302G probably damaging Het
Adgrf5 T A 17: 43,762,070 (GRCm39) L1255H probably damaging Het
Adra1a T A 14: 66,875,733 (GRCm39) I236N probably benign Het
As3mt T C 19: 46,708,891 (GRCm39) F295S probably damaging Het
Bmp5 G A 9: 75,780,642 (GRCm39) R313Q probably damaging Het
Ccnj T A 19: 40,833,394 (GRCm39) S191T probably benign Het
Clk2 T A 3: 89,080,852 (GRCm39) probably null Het
Cpz T C 5: 35,675,000 (GRCm39) E83G probably damaging Het
Cts3 A G 13: 61,715,434 (GRCm39) I133T probably benign Het
Dars2 C T 1: 160,874,342 (GRCm39) probably null Het
Dsel A T 1: 111,788,798 (GRCm39) V579D probably damaging Het
Dync1h1 C A 12: 110,602,076 (GRCm39) A2038E probably damaging Het
Eaf1 A G 14: 31,216,777 (GRCm39) probably benign Het
Fsip2 A C 2: 82,828,524 (GRCm39) I6774L probably benign Het
Glis2 T C 16: 4,431,432 (GRCm39) F320L possibly damaging Het
Hcar1 A G 5: 124,017,693 (GRCm39) probably benign Het
Hectd1 A T 12: 51,797,104 (GRCm39) H2211Q probably benign Het
Hmcn1 A G 1: 150,559,496 (GRCm39) I2385T probably damaging Het
Ifi44 T A 3: 151,438,094 (GRCm39) M398L probably benign Het
Il16 C T 7: 83,293,249 (GRCm39) E1273K probably damaging Het
Inpp5j G A 11: 3,451,065 (GRCm39) T528I probably damaging Het
Kbtbd6 C T 14: 79,690,627 (GRCm39) P441S probably damaging Het
Kcnt1 C T 2: 25,753,855 (GRCm39) probably benign Het
Kif26b T C 1: 178,358,306 (GRCm39) L139P probably damaging Het
Klb C T 5: 65,505,974 (GRCm39) Q74* probably null Het
L3mbtl1 G A 2: 162,808,926 (GRCm39) V600I probably benign Het
Lcp1 C T 14: 75,447,946 (GRCm39) A317V possibly damaging Het
Lipc C T 9: 70,720,029 (GRCm39) G326D probably damaging Het
Mbnl2 T A 14: 120,616,694 (GRCm39) F103I probably benign Het
Mdm1 G T 10: 118,000,193 (GRCm39) E609* probably null Het
Med16 A G 10: 79,744,650 (GRCm39) probably null Het
Mga T C 2: 119,766,008 (GRCm39) V1424A possibly damaging Het
Mocs2 G T 13: 114,964,710 (GRCm39) probably null Het
Morc1 C T 16: 48,451,263 (GRCm39) probably null Het
Mpc2 T A 1: 165,307,080 (GRCm39) W94R probably damaging Het
Mrm3 G A 11: 76,141,002 (GRCm39) V337I possibly damaging Het
N4bp3 T C 11: 51,536,433 (GRCm39) H133R probably benign Het
Ncam2 G T 16: 81,420,256 (GRCm39) G810V probably damaging Het
Nipbl T C 15: 8,373,090 (GRCm39) E1052G possibly damaging Het
Nlrp12 C T 7: 3,297,887 (GRCm39) V95M probably damaging Het
Nrip1 T C 16: 76,090,244 (GRCm39) N438D possibly damaging Het
Nsun4 C A 4: 115,909,035 (GRCm39) M508I probably benign Het
Pla2g2c T C 4: 138,461,650 (GRCm39) S40P probably damaging Het
Plec A G 15: 76,082,178 (GRCm39) probably null Het
Ppfia2 G T 10: 106,693,356 (GRCm39) M620I possibly damaging Het
Ppp6c A G 2: 39,116,229 (GRCm39) Y9H probably damaging Het
Prkd1 A T 12: 50,695,617 (GRCm39) I47N possibly damaging Het
Prr14l T C 5: 32,988,028 (GRCm39) D489G probably benign Het
Ptch2 T A 4: 116,971,849 (GRCm39) Y1124N probably benign Het
Rint1 T A 5: 24,020,651 (GRCm39) F558Y possibly damaging Het
Rnf215 T A 11: 4,089,792 (GRCm39) C268* probably null Het
Slc25a13 T C 6: 6,181,100 (GRCm39) E28G possibly damaging Het
Slc38a8 G T 8: 120,226,554 (GRCm39) Y78* probably null Het
Slc4a7 T C 14: 14,775,000 (GRCm38) M810T probably damaging Het
Slitrk1 A G 14: 109,150,591 (GRCm39) V40A possibly damaging Het
Sobp A T 10: 42,898,831 (GRCm39) S251R probably damaging Het
Spata31d1a G A 13: 59,851,015 (GRCm39) S371L probably benign Het
Tada2b T C 5: 36,634,180 (GRCm39) T133A possibly damaging Het
Tbc1d20 A G 2: 152,146,881 (GRCm39) D90G probably benign Het
Tek T A 4: 94,715,533 (GRCm39) I408K probably benign Het
Tgfb2 A G 1: 186,382,077 (GRCm39) F150S probably benign Het
Tmem63b T C 17: 45,977,517 (GRCm39) T370A probably benign Het
Tmem94 G T 11: 115,677,082 (GRCm39) R118L possibly damaging Het
Tspan17 C G 13: 54,940,434 (GRCm39) L34V probably benign Het
Vmn1r238 A T 18: 3,123,151 (GRCm39) Y88N probably damaging Het
Vmn1r85 A G 7: 12,818,964 (GRCm39) I60T probably damaging Het
Vmn2r96 T C 17: 18,803,029 (GRCm39) M313T probably benign Het
Zp3r G A 1: 130,511,217 (GRCm39) S387F 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
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
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'- TCAGCCCTGCCTGTAGAAGATC -3'
(R):5'- AGCCTATGTGCCATTTCTAAAACAG -3'

Sequencing Primer
(F):5'- TTATTCCCAGCACTCAGGAGG -3'
(R):5'- GCAATTCTCCTGTCTGTG -3'
Posted On 2019-09-13