Incidental Mutation 'R2849:Ptpra'
ID 251919
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 040442-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2849 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 130292198-130396220 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 130386919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 603 (H603Q)
Ref Sequence ENSEMBL: ENSMUSP00000028769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303]
AlphaFold P18052
Predicted Effect probably benign
Transcript: ENSMUST00000028769
AA Change: H603Q

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: H603Q

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
AA Change: H639Q

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: H639Q

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: ENSMUST00000230640
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230886
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adcy7 A G 8: 89,054,021 (GRCm39) I1017V probably benign Het
Agpat2 A G 2: 26,487,251 (GRCm39) I109T probably damaging Het
Aldh9a1 G A 1: 167,180,197 (GRCm39) R97H probably damaging Het
Als2 G A 1: 59,245,697 (GRCm39) T593M probably damaging Het
Ap3d1 G C 10: 80,577,742 (GRCm39) H28Q possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Begain T A 12: 108,999,044 (GRCm39) M576L probably benign Het
Bod1l T C 5: 41,995,419 (GRCm39) N109S probably damaging Het
Boll A G 1: 55,385,532 (GRCm39) M131T possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cers2 T C 3: 95,229,770 (GRCm39) F330L probably benign Het
Chst13 T C 6: 90,286,140 (GRCm39) D274G probably benign Het
Cimap1a A G 7: 140,429,182 (GRCm39) T156A probably benign Het
Cstdc5 T A 16: 36,187,814 (GRCm39) Q17L probably damaging Het
Dclk2 A G 3: 86,700,530 (GRCm39) V649A probably damaging Het
Deaf1 T C 7: 140,894,367 (GRCm39) *54W probably null Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fbxo32 C T 15: 58,071,368 (GRCm39) S71N probably benign Het
Fbxo42 T A 4: 140,927,821 (GRCm39) N700K probably damaging Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Fyco1 A T 9: 123,663,891 (GRCm39) L121* probably null Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf2ird1 G A 5: 134,387,861 (GRCm39) T946I probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Josd2 A G 7: 44,118,397 (GRCm39) probably null Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Lrp1 C T 10: 127,378,165 (GRCm39) A4052T probably damaging Het
Lrrtm3 T C 10: 63,924,810 (GRCm39) N119S probably damaging Het
Lypd6 C T 2: 50,055,664 (GRCm39) P38L probably damaging Het
Msl3l2 T C 10: 55,991,538 (GRCm39) C88R probably benign Het
Nsd1 A G 13: 55,361,505 (GRCm39) T158A probably damaging Het
Nudt22 A T 19: 6,970,852 (GRCm39) S239R probably benign Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Or52r1c A T 7: 102,735,319 (GRCm39) D193V probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pcnx2 A G 8: 126,487,666 (GRCm39) F1779S probably damaging Het
Plxna4 T C 6: 32,162,467 (GRCm39) K1349E probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Slc6a15 C A 10: 103,240,552 (GRCm39) H392N probably benign Het
Slco6d1 C T 1: 98,394,441 (GRCm39) T375I probably benign Het
Smpd4 A G 16: 17,460,076 (GRCm39) D436G probably damaging Het
Spata22 G A 11: 73,244,571 (GRCm39) W311* probably null Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tle6 T A 10: 81,430,235 (GRCm39) I306F probably damaging Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trim24 T A 6: 37,933,388 (GRCm39) S656T probably damaging Het
Trnau1ap C A 4: 132,049,045 (GRCm39) V119F possibly damaging Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn1r82 T C 7: 12,039,333 (GRCm39) V202A probably damaging Het
Zfp607b G A 7: 27,401,819 (GRCm39) V92I probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zw10 A G 9: 48,968,941 (GRCm39) probably null 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
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'- GATCCTTCCTCAAAAGAGAGCTC -3'
(R):5'- TTAGACACCAACTGCTGCTG -3'

Sequencing Primer
(F):5'- AAGAGAGCTCTTTGTGGAATCTGTC -3'
(R):5'- TGCTGCTGTGCCAGAGC -3'
Posted On 2014-12-04