Incidental Mutation 'R8358:Ptprr'
ID 645872
Institutional Source Beutler Lab
Gene Symbol Ptprr
Ensembl Gene ENSMUSG00000020151
Gene Name protein tyrosine phosphatase receptor type R
Synonyms PTP-SL, PTPBR7, RPTPRR
MMRRC Submission 067871-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R8358 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 115854118-116110837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115884180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 79 (I79T)
Ref Sequence ENSEMBL: ENSMUSP00000064392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063470]
AlphaFold Q62132
Predicted Effect probably benign
Transcript: ENSMUST00000063470
AA Change: I79T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: I79T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
PTPc 391 648 3.74e-108 SMART
Meta Mutation Damage Score 0.0754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (49/49)
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 possesses an extracellular region, a single transmembrane region, and a single intracellular catalytic domain, and thus represents a receptor-type PTP. Silencing of this gene has been associated with colorectal cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares a symbol (PTPRQ) with another gene, protein tyrosine phosphatase, receptor type, Q (GeneID 374462), which is also located on chromosome 12. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased ERK1/2 phosphorylation levels in cerebellar Purkinje cells, decreased grip strength, and ataxia characterized by fine motor coordination and balance defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,367,796 (GRCm39) S52P possibly damaging Het
Adamts19 G T 18: 59,181,881 (GRCm39) G1107C probably damaging Het
Afap1 A T 5: 36,131,830 (GRCm39) T386S probably benign Het
Alg12 T C 15: 88,695,503 (GRCm39) Y331C probably null Het
Aste1 T A 9: 105,274,255 (GRCm39) I165N probably damaging Het
Atp13a5 A G 16: 29,167,805 (GRCm39) I118T probably damaging Het
AW551984 A G 9: 39,510,651 (GRCm39) V228A probably damaging Het
Cachd1 A G 4: 100,816,668 (GRCm39) Y357C possibly damaging Het
Cacul1 T A 19: 60,551,673 (GRCm39) H183L possibly damaging Het
Casp16 T A 17: 23,772,348 (GRCm39) I39F probably damaging Het
Chd7 G T 4: 8,839,529 (GRCm39) C1355F probably damaging Het
Csnk1a1 A G 18: 61,713,610 (GRCm39) probably null Het
Ctif G A 18: 75,698,115 (GRCm39) H182Y possibly damaging Het
Cubn C T 2: 13,329,971 (GRCm39) V2637I probably benign Het
Dlx1 T A 2: 71,360,652 (GRCm39) probably null Het
Dsp A G 13: 38,376,457 (GRCm39) N1414S possibly damaging Het
Erich6 A T 3: 58,544,449 (GRCm39) L46* probably null Het
Fcho2 G A 13: 98,862,282 (GRCm39) R804* probably null Het
Gas7 T A 11: 67,543,734 (GRCm39) I114N probably benign Het
Gpr137b T C 13: 13,533,929 (GRCm39) T376A probably benign Het
H2-T24 T C 17: 36,328,229 (GRCm39) M85V probably benign Het
Klk1b16 T A 7: 43,790,185 (GRCm39) C152S probably damaging Het
Lrrc31 G A 3: 30,753,932 (GRCm39) probably benign Het
Magt1 C T X: 105,040,501 (GRCm39) A100T probably benign Het
Mki67 T C 7: 135,301,855 (GRCm39) K1060E possibly damaging Het
Nif3l1 A T 1: 58,491,288 (GRCm39) T213S probably benign Het
Oasl1 T A 5: 115,075,465 (GRCm39) F508L probably benign Het
Or10ak8 A T 4: 118,773,723 (GRCm39) *314R probably null Het
Or2a25 T C 6: 42,888,976 (GRCm39) V173A possibly damaging Het
Or4a80 C T 2: 89,582,423 (GRCm39) V250I probably benign Het
Or5b122 T C 19: 13,562,764 (GRCm39) L32P probably damaging Het
Psg23 T C 7: 18,348,522 (GRCm39) D95G probably benign Het
Resf1 C T 6: 149,228,076 (GRCm39) T374I probably damaging Het
Rhbg T A 3: 88,152,525 (GRCm39) N340Y probably damaging Het
Sash1 C A 10: 8,605,745 (GRCm39) V882L probably benign Het
Sharpin C T 15: 76,232,197 (GRCm39) V220I probably damaging Het
Slc22a22 T A 15: 57,108,243 (GRCm39) D524V probably damaging Het
Slc43a3 T C 2: 84,780,860 (GRCm39) Y362H probably benign Het
Slc4a3 T A 1: 75,530,359 (GRCm39) D687E probably damaging Het
Slco1a5 A G 6: 142,208,411 (GRCm39) S127P probably benign Het
Spg11 T C 2: 121,910,739 (GRCm39) I1213V possibly damaging Het
Synj2 T A 17: 6,074,080 (GRCm39) Y813* probably null Het
Tbc1d10a T C 11: 4,155,837 (GRCm39) M131T probably damaging Het
Tnfrsf19 C A 14: 61,208,634 (GRCm39) V296F probably benign Het
Trim45 T C 3: 100,834,634 (GRCm39) V439A probably damaging Het
Trim54 A G 5: 31,294,338 (GRCm39) T325A probably benign Het
Usp40 T C 1: 87,908,770 (GRCm39) E577G possibly damaging Het
Uts2r T A 11: 121,051,345 (GRCm39) Y70N probably damaging Het
Vmn1r72 T G 7: 11,404,310 (GRCm39) D46A probably damaging Het
Zfc3h1 T C 10: 115,240,198 (GRCm39) V577A probably benign Het
Zfp987 T G 4: 146,061,343 (GRCm39) H258Q probably damaging Het
Other mutations in Ptprr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Ptprr APN 10 116,024,222 (GRCm39) missense probably benign 0.00
IGL01762:Ptprr APN 10 116,072,638 (GRCm39) missense probably damaging 1.00
IGL02429:Ptprr APN 10 116,109,672 (GRCm39) missense probably damaging 0.99
IGL03396:Ptprr APN 10 116,024,235 (GRCm39) missense probably damaging 1.00
R0268:Ptprr UTSW 10 116,088,868 (GRCm39) missense possibly damaging 0.83
R0584:Ptprr UTSW 10 116,087,063 (GRCm39) missense probably damaging 0.96
R1388:Ptprr UTSW 10 116,109,657 (GRCm39) missense probably benign 0.14
R1438:Ptprr UTSW 10 116,092,109 (GRCm39) missense probably damaging 0.98
R1533:Ptprr UTSW 10 116,024,113 (GRCm39) nonsense probably null
R1654:Ptprr UTSW 10 116,024,268 (GRCm39) missense probably benign 0.43
R1793:Ptprr UTSW 10 116,088,827 (GRCm39) missense probably damaging 1.00
R4081:Ptprr UTSW 10 116,072,615 (GRCm39) missense probably benign 0.01
R4193:Ptprr UTSW 10 116,088,769 (GRCm39) missense probably damaging 1.00
R4254:Ptprr UTSW 10 115,998,348 (GRCm39) splice site probably null
R4496:Ptprr UTSW 10 116,065,407 (GRCm39) missense possibly damaging 0.91
R4799:Ptprr UTSW 10 115,884,123 (GRCm39) missense probably benign 0.00
R5209:Ptprr UTSW 10 115,998,514 (GRCm39) missense probably damaging 0.99
R5312:Ptprr UTSW 10 116,024,324 (GRCm39) missense probably benign 0.28
R5410:Ptprr UTSW 10 116,024,235 (GRCm39) missense possibly damaging 0.94
R5556:Ptprr UTSW 10 116,087,054 (GRCm39) missense probably damaging 0.96
R5717:Ptprr UTSW 10 115,884,018 (GRCm39) missense probably benign 0.11
R6039:Ptprr UTSW 10 116,072,668 (GRCm39) splice site probably null
R6039:Ptprr UTSW 10 116,072,668 (GRCm39) splice site probably null
R7013:Ptprr UTSW 10 116,072,659 (GRCm39) missense probably damaging 1.00
R7401:Ptprr UTSW 10 115,884,141 (GRCm39) missense probably benign
R7527:Ptprr UTSW 10 116,087,104 (GRCm39) missense probably benign 0.08
R7644:Ptprr UTSW 10 115,884,133 (GRCm39) missense probably benign 0.00
R7651:Ptprr UTSW 10 116,087,084 (GRCm39) missense probably benign 0.01
R7708:Ptprr UTSW 10 115,998,502 (GRCm39) missense probably benign 0.31
R7731:Ptprr UTSW 10 116,073,200 (GRCm39) missense probably damaging 1.00
R8026:Ptprr UTSW 10 115,884,075 (GRCm39) missense probably damaging 1.00
R8261:Ptprr UTSW 10 116,073,169 (GRCm39) missense possibly damaging 0.95
R8387:Ptprr UTSW 10 116,087,030 (GRCm39) missense probably damaging 1.00
R8894:Ptprr UTSW 10 115,884,250 (GRCm39) missense probably benign 0.00
R9142:Ptprr UTSW 10 116,024,119 (GRCm39) missense possibly damaging 0.90
R9375:Ptprr UTSW 10 116,109,724 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATGTAGCAGAAGATGGCCTAGTAC -3'
(R):5'- GGGGAACATCAGCACTAGTG -3'

Sequencing Primer
(F):5'- TCTTGTAGGTTGTTTTTCCAGAAAC -3'
(R):5'- TAGTGCTAACATCAGCCTCAG -3'
Posted On 2020-09-02