Incidental Mutation 'IGL01123:Ptprr'
ID 52128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprr
Ensembl Gene ENSMUSG00000020151
Gene Name protein tyrosine phosphatase receptor type R
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL01123
Quality Score
Chromosome 10
Chromosomal Location 115854118-116110837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116024222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 178 (T178A)
Ref Sequence ENSEMBL: ENSMUSP00000100907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000105271] [ENSMUST00000128399] [ENSMUST00000148731] [ENSMUST00000155606]
AlphaFold Q62132
Predicted Effect probably benign
Transcript: ENSMUST00000063470
AA Change: T285A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: T285A

signal peptide 1 23 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
PTPc 391 648 3.74e-108 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105271
AA Change: T178A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: T178A

transmembrane domain 119 141 N/A INTRINSIC
PTPc 284 541 3.74e-108 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128399
AA Change: T41A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114455
Gene: ENSMUSG00000020151
AA Change: T41A

PTPc 147 404 3.74e-108 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148731
AA Change: T41A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120965
Gene: ENSMUSG00000020151
AA Change: T41A

PTPc 147 404 3.74e-108 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000155606
AA Change: T41A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122259
Gene: ENSMUSG00000020151
AA Change: T41A

PTPc 147 404 3.74e-108 SMART
Coding Region Coverage
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 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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
B3gnt2 T A 11: 22,786,490 (GRCm39) T233S probably benign Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in Ptprr
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8358:Ptprr UTSW 10 115,884,180 (GRCm39) missense probably benign 0.25
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
Posted On 2013-06-21