Incidental Mutation 'IGL01762:Ptprr'
ID153281
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprr
Ensembl Gene ENSMUSG00000020151
Gene Nameprotein tyrosine phosphatase, receptor type, R
SynonymsPTPBR7, PTP-SL, RPTPRR
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.349) question?
Stock #IGL01762
Quality Score
Status
Chromosome10
Chromosomal Location116018213-116274932 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 116236733 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 200 (T200I)
Ref Sequence ENSEMBL: ENSMUSP00000122259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063470] [ENSMUST00000105271] [ENSMUST00000128399] [ENSMUST00000148731] [ENSMUST00000155606]
Predicted Effect probably damaging
Transcript: ENSMUST00000063470
AA Change: T444I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000064392
Gene: ENSMUSG00000020151
AA Change: T444I

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 probably damaging
Transcript: ENSMUST00000105271
AA Change: T337I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100907
Gene: ENSMUSG00000020151
AA Change: T337I

DomainStartEndE-ValueType
transmembrane domain 119 141 N/A INTRINSIC
PTPc 284 541 3.74e-108 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124369
Predicted Effect probably damaging
Transcript: ENSMUST00000128399
AA Change: T200I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114455
Gene: ENSMUSG00000020151
AA Change: T200I

DomainStartEndE-ValueType
PTPc 147 404 3.74e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148731
AA Change: T200I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000120965
Gene: ENSMUSG00000020151
AA Change: T200I

DomainStartEndE-ValueType
PTPc 147 404 3.74e-108 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155606
AA Change: T200I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122259
Gene: ENSMUSG00000020151
AA Change: T200I

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,174,851 L47* probably null Het
Abca13 A T 11: 9,315,423 T3033S probably benign Het
Atp1a2 C A 1: 172,284,913 V503L possibly damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cacna1e T A 1: 154,471,373 D770V possibly damaging Het
Camkk1 A G 11: 73,030,801 probably null Het
Cd34 T A 1: 194,939,033 M23K probably benign Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cux2 A G 5: 121,873,145 I574T probably damaging Het
Fam129a T C 1: 151,636,491 V48A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Galk1 A G 11: 116,010,008 Y236H probably damaging Het
Gbp11 T C 5: 105,327,607 I292V probably benign Het
Gprc5c A G 11: 114,864,024 I176V probably benign Het
Myh6 T C 14: 54,962,081 K258E probably benign Het
Nlrp9c T A 7: 26,385,425 D243V probably damaging Het
Nobox T G 6: 43,303,993 K516Q probably damaging Het
Nudcd3 A G 11: 6,150,560 S195P probably damaging Het
Pde10a T C 17: 8,942,918 I477T possibly damaging Het
Pgbd5 C T 8: 124,370,610 A394T probably damaging Het
Piezo1 G A 8: 122,487,929 R1553* probably null Het
Prkd1 T C 12: 50,387,230 I577V probably benign Het
Prss34 T C 17: 25,299,812 I256T probably benign Het
Ptprg A G 14: 12,037,386 T189A probably benign Het
Samd8 C T 14: 21,780,100 P198L probably damaging Het
Sema3c T C 5: 17,694,851 L447P possibly damaging Het
Slc22a23 A T 13: 34,204,001 F371I possibly damaging Het
Slc2a2 A G 3: 28,717,472 R184G probably damaging Het
Slitrk6 T A 14: 110,751,624 D217V probably damaging Het
Tlr2 A G 3: 83,836,994 V594A probably benign Het
Vmn2r109 A G 17: 20,554,392 F234L probably benign Het
Vmn2r12 A C 5: 109,086,564 L594R probably damaging Het
Vmn2r124 A G 17: 18,063,172 Q376R possibly damaging Het
Vmn2r7 T C 3: 64,691,435 D567G probably benign Het
Other mutations in Ptprr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Ptprr APN 10 116188317 missense probably benign 0.00
IGL02429:Ptprr APN 10 116273767 missense probably damaging 0.99
IGL03396:Ptprr APN 10 116188330 missense probably damaging 1.00
R0268:Ptprr UTSW 10 116252963 missense possibly damaging 0.83
R0584:Ptprr UTSW 10 116251158 missense probably damaging 0.96
R1388:Ptprr UTSW 10 116273752 missense probably benign 0.14
R1438:Ptprr UTSW 10 116256204 missense probably damaging 0.98
R1533:Ptprr UTSW 10 116188208 nonsense probably null
R1654:Ptprr UTSW 10 116188363 missense probably benign 0.43
R1793:Ptprr UTSW 10 116252922 missense probably damaging 1.00
R4081:Ptprr UTSW 10 116236710 missense probably benign 0.01
R4193:Ptprr UTSW 10 116252864 missense probably damaging 1.00
R4254:Ptprr UTSW 10 116162443 splice site probably null
R4496:Ptprr UTSW 10 116229502 missense possibly damaging 0.91
R4799:Ptprr UTSW 10 116048218 missense probably benign 0.00
R5209:Ptprr UTSW 10 116162609 missense probably damaging 0.99
R5312:Ptprr UTSW 10 116188419 missense probably benign 0.28
R5410:Ptprr UTSW 10 116188330 missense possibly damaging 0.94
R5556:Ptprr UTSW 10 116251149 missense probably damaging 0.96
R5717:Ptprr UTSW 10 116048113 missense probably benign 0.11
R6039:Ptprr UTSW 10 116236763 splice site probably null
R6039:Ptprr UTSW 10 116236763 splice site probably null
R7013:Ptprr UTSW 10 116236754 missense probably damaging 1.00
R7401:Ptprr UTSW 10 116048236 missense probably benign
R7527:Ptprr UTSW 10 116251199 missense probably benign 0.08
R7644:Ptprr UTSW 10 116048228 missense probably benign 0.00
R7651:Ptprr UTSW 10 116251179 missense probably benign 0.01
R7708:Ptprr UTSW 10 116162597 missense probably benign 0.31
R7731:Ptprr UTSW 10 116237295 missense probably damaging 1.00
Posted On2014-02-04