Incidental Mutation 'R5556:Ptprr'
ID 435400
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 043113-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R5556 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 115854118-116110837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116087054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 267 (Y267C)
Ref Sequence ENSEMBL: ENSMUSP00000122259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000105271] [ENSMUST00000128399] [ENSMUST00000148731] [ENSMUST00000155606]
AlphaFold Q62132
Predicted Effect probably damaging
Transcript: ENSMUST00000063470
AA Change: Y511C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: Y511C

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 226 248 N/A INTRINSIC
PTPc 391 648 3.74e-108 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000105271
AA Change: Y404C

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: Y404C

DomainStartEndE-ValueType
transmembrane domain 119 141 N/A INTRINSIC
PTPc 284 541 3.74e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000128399
AA Change: Y267C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114455
Gene: ENSMUSG00000020151
AA Change: Y267C

DomainStartEndE-ValueType
PTPc 147 404 3.74e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148731
AA Change: Y267C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000120965
Gene: ENSMUSG00000020151
AA Change: Y267C

DomainStartEndE-ValueType
PTPc 147 404 3.74e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155606
AA Change: Y267C

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122259
Gene: ENSMUSG00000020151
AA Change: Y267C

DomainStartEndE-ValueType
PTPc 147 404 3.74e-108 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.3%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,066,026 (GRCm39) probably null Het
Abca13 A T 11: 9,208,546 (GRCm39) I240F possibly damaging Het
Accs A G 2: 93,666,428 (GRCm39) Y420H probably damaging Het
Aco2 T C 15: 81,773,520 (GRCm39) Y20H probably damaging Het
Adck2 T C 6: 39,560,869 (GRCm39) V419A probably benign Het
Bahd1 T A 2: 118,746,751 (GRCm39) N123K probably damaging Het
Cast A G 13: 74,844,008 (GRCm39) probably null Het
Cd164l2 T A 4: 132,951,016 (GRCm39) V157E probably damaging Het
Cdk11b C T 4: 155,718,604 (GRCm39) Q185* probably null Het
Ces2g T C 8: 105,694,074 (GRCm39) F470S probably benign Het
Cherp C G 8: 73,221,824 (GRCm39) Q313H probably damaging Het
Chrna4 A G 2: 180,675,773 (GRCm39) V110A possibly damaging Het
Cndp2 A G 18: 84,690,249 (GRCm39) V231A probably benign Het
Cst7 A T 2: 150,412,488 (GRCm39) H17L probably benign Het
Decr1 C T 4: 15,919,244 (GRCm39) D300N probably damaging Het
Dennd4b G A 3: 90,175,675 (GRCm39) R148Q probably damaging Het
Dgkb T G 12: 38,177,363 (GRCm39) V230G probably damaging Het
Dis3l2 T C 1: 86,901,126 (GRCm39) V439A possibly damaging Het
Disp3 C T 4: 148,342,614 (GRCm39) G612D probably benign Het
Dock7 T C 4: 98,832,972 (GRCm39) T1962A probably damaging Het
Entrep2 A G 7: 64,505,957 (GRCm39) F96S probably damaging Het
Fibp T A 19: 5,514,227 (GRCm39) V304E possibly damaging Het
Flt3 T A 5: 147,269,807 (GRCm39) probably null Het
Kifc3 G A 8: 95,835,087 (GRCm39) Q233* probably null Het
Klhl42 C A 6: 147,009,610 (GRCm39) S483Y probably benign Het
Map3k19 G A 1: 127,762,284 (GRCm39) R276* probably null Het
Mecom A G 3: 30,292,249 (GRCm39) S87P probably damaging Het
Med13 A G 11: 86,218,664 (GRCm39) V416A probably benign Het
Mepe G A 5: 104,486,078 (GRCm39) G406D probably damaging Het
Met T G 6: 17,534,175 (GRCm39) L673V probably benign Het
Mlh3 A T 12: 85,315,267 (GRCm39) Y306* probably null Het
Nrxn2 C A 19: 6,540,121 (GRCm39) A814E probably damaging Het
Nsmaf C T 4: 6,398,621 (GRCm39) V828I probably benign Het
Or2j3 T A 17: 38,615,964 (GRCm39) K129N possibly damaging Het
Or9r7 A T 10: 129,962,728 (GRCm39) L66H probably damaging Het
Panx1 A G 9: 14,918,929 (GRCm39) I310T possibly damaging Het
Pcare T C 17: 72,059,420 (GRCm39) K86E possibly damaging Het
Pcdhb6 T A 18: 37,467,442 (GRCm39) L121Q probably damaging Het
Plekha7 G A 7: 115,763,384 (GRCm39) T406I probably benign Het
Prtg T C 9: 72,758,986 (GRCm39) S447P probably damaging Het
Rbpjl A G 2: 164,249,982 (GRCm39) T134A probably benign Het
Relch C A 1: 105,620,892 (GRCm39) Q456K probably benign Het
Rpe C A 1: 66,745,625 (GRCm39) T55N probably damaging Het
Scn1a T C 2: 66,155,141 (GRCm39) D606G probably benign Het
Setd5 T A 6: 113,124,463 (GRCm39) N1105K probably benign Het
Sh3d21 T C 4: 126,056,029 (GRCm39) N126D possibly damaging Het
Shank1 A G 7: 43,993,739 (GRCm39) probably benign Het
Srgap3 T A 6: 112,716,039 (GRCm39) D627V probably damaging Het
Tacc2 T A 7: 130,276,336 (GRCm39) S1796T probably damaging Het
Tmco3 G A 8: 13,344,870 (GRCm39) V217I probably damaging Het
Trgc4 A T 13: 19,536,477 (GRCm39) R178S unknown Het
Tspan10 A T 11: 120,335,541 (GRCm39) Y217F possibly damaging Het
Usp3 G A 9: 66,451,303 (GRCm39) T153M possibly damaging Het
Xdh G T 17: 74,204,759 (GRCm39) T1067K probably benign Het
Zfp334 T C 2: 165,222,504 (GRCm39) D513G probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CTGGTCTGCACATCATAGAGTTC -3'
(R):5'- CAACAAGGGACGTCGATAGC -3'

Sequencing Primer
(F):5'- TGCACATCATAGAGTTCACCTC -3'
(R):5'- AAGGGACGTCGATAGCTTGCC -3'
Posted On 2016-10-24