Incidental Mutation 'R8683:Ptpra'
ID 661859
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 068538-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8683 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130394187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 784 (I784V)
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 benign
Transcript: ENSMUST00000028769
AA Change: I748V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: I748V

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: I784V

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: I784V

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Actl11 T A 9: 107,806,065 (GRCm39) D129E probably benign Het
Adam12 T A 7: 133,491,929 (GRCm39) E877D possibly damaging Het
Adarb2 T A 13: 8,807,395 (GRCm39) V732E probably damaging Het
Adcy1 T C 11: 7,111,328 (GRCm39) I873T probably damaging Het
Adgrg1 C T 8: 95,736,276 (GRCm39) H477Y probably damaging Het
Ahctf1 T C 1: 179,623,321 (GRCm39) E99G possibly damaging Het
Ankk1 T A 9: 49,329,292 (GRCm39) M93L Het
Ankmy1 A T 1: 92,812,972 (GRCm39) L446M possibly damaging Het
Anxa10 T A 8: 62,510,825 (GRCm39) Y309F probably damaging Het
Arg2 C T 12: 79,196,794 (GRCm39) Q172* probably null Het
Atp6v0a4 T A 6: 38,025,926 (GRCm39) *834L probably null Het
Avl9 T A 6: 56,730,378 (GRCm39) S574T probably benign Het
AW551984 G A 9: 39,511,005 (GRCm39) T194I possibly damaging Het
Azin1 G A 15: 38,493,775 (GRCm39) L283F probably damaging Het
Birc6 G A 17: 74,916,114 (GRCm39) A1677T possibly damaging Het
Carm1 A T 9: 21,497,464 (GRCm39) D342V possibly damaging Het
Ccr4 T C 9: 114,321,216 (GRCm39) D283G probably damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntn2 A T 1: 132,450,731 (GRCm39) L548Q probably damaging Het
Copg1 A G 6: 87,869,637 (GRCm39) D172G probably damaging Het
Cyp2j12 T A 4: 96,009,805 (GRCm39) N185Y probably benign Het
Dapk3 T C 10: 81,026,069 (GRCm39) L120P probably damaging Het
Dclre1b A C 3: 103,711,298 (GRCm39) S204R probably damaging Het
Dennd2a G A 6: 39,500,137 (GRCm39) R143* probably null Het
Dnah5 A T 15: 28,289,367 (GRCm39) E1185D probably benign Het
Dop1b C T 16: 93,568,699 (GRCm39) T1587I probably damaging Het
Dop1b A G 16: 93,570,809 (GRCm39) T1603A probably benign Het
Dym T A 18: 75,363,089 (GRCm39) V531E probably damaging Het
Dync2i1 G T 12: 116,193,262 (GRCm39) D563E probably benign Het
Ecpas T C 4: 58,834,515 (GRCm39) S788G probably benign Het
Eif2b4 A T 5: 31,345,274 (GRCm39) F453L probably damaging Het
Entpd8 G A 2: 24,974,992 (GRCm39) G441D probably damaging Het
Galnt6 A T 15: 100,592,603 (GRCm39) Y535N probably damaging Het
Garin2 TGATGTCACAGATGTCAC TGATGTCAC 12: 78,762,057 (GRCm39) probably benign Het
Gm10340 T A 14: 14,826,748 (GRCm39) D72E possibly damaging Het
Gm13102 T A 4: 143,835,680 (GRCm39) D449E probably damaging Het
Hdac9 T A 12: 34,440,220 (GRCm39) K386N probably damaging Het
Hgs T A 11: 120,366,044 (GRCm39) C212* probably null Het
Hoxa2 C A 6: 52,141,540 (GRCm39) A29S possibly damaging Het
Ifnar1 T A 16: 91,296,332 (GRCm39) W278R probably damaging Het
Irf7 C T 7: 140,843,422 (GRCm39) G389R probably null Het
Lipo3 G A 19: 33,759,604 (GRCm39) L211F probably benign Het
Mars2 C T 1: 55,277,741 (GRCm39) T448I probably benign Het
Mcm4 C A 16: 15,453,138 (GRCm39) G184C probably damaging Het
Mmaa C T 8: 79,994,598 (GRCm39) A403T probably damaging Het
Mmel1 A G 4: 154,973,985 (GRCm39) I342V probably benign Het
Myb T C 10: 21,026,405 (GRCm39) T188A possibly damaging Het
Myo1g C T 11: 6,467,569 (GRCm39) probably null Het
Npas2 A G 1: 39,386,708 (GRCm39) Q659R probably benign Het
Npr1 A G 3: 90,362,497 (GRCm39) V941A probably benign Het
Numa1 T G 7: 101,626,617 (GRCm39) M1R probably null Het
Obscn T C 11: 58,967,705 (GRCm39) S2700G probably benign Het
Or2t35 T A 14: 14,407,480 (GRCm38) L84H probably benign Het
Or4k2 A T 14: 50,424,203 (GRCm39) M157K possibly damaging Het
Or5g25 A T 2: 85,478,410 (GRCm39) I85N probably benign Het
Pdpr T A 8: 111,850,492 (GRCm39) H476Q probably damaging Het
Pkd1l1 A T 11: 8,821,805 (GRCm39) S1630T Het
Prdm16 A G 4: 154,613,161 (GRCm39) S89P probably damaging Het
Ptgdr2 T A 19: 10,917,893 (GRCm39) W137R possibly damaging Het
Rabepk G T 2: 34,685,188 (GRCm39) D77E possibly damaging Het
Sh2b1 GGGGACCAGCTCAGCCACGGGGACCAGCTC GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC 7: 126,066,743 (GRCm39) probably benign Het
Smc3 T A 19: 53,629,616 (GRCm39) S994T possibly damaging Het
Sparc A G 11: 55,292,783 (GRCm39) C147R probably damaging Het
Supt6 A T 11: 78,108,727 (GRCm39) D1191E probably benign Het
Susd4 T C 1: 182,719,832 (GRCm39) probably null Het
Tbc1d5 A G 17: 51,291,631 (GRCm39) probably null Het
Tecta T G 9: 42,278,268 (GRCm39) D1080A probably damaging Het
Tenm4 G T 7: 96,552,064 (GRCm39) W2538L probably damaging Het
Trappc9 A G 15: 72,884,664 (GRCm39) F439L probably benign Het
Tsbp1 A T 17: 34,667,782 (GRCm39) Q158L possibly damaging Het
Vegfa A T 17: 46,342,396 (GRCm39) S141T probably benign Het
Vmn2r9 T A 5: 108,996,873 (GRCm39) D132V 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
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
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'- GCTCAGTGCACACAGGAAG -3'
(R):5'- GCTTCCCAAGACACTCCCTG -3'

Sequencing Primer
(F):5'- GGGTGTCCTGTCCCACTGATAC -3'
(R):5'- CCCTGTCTTTTGAGTCTGCGG -3'
Posted On 2021-03-08