Incidental Mutation 'IGL03351:Ptprs'
ID419727
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptprs
Ensembl Gene ENSMUSG00000013236
Gene Nameprotein tyrosine phosphatase, receptor type, S
SynonymsPtpt9, PTP-NU3, RPTPsigma, PTPsigma
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.499) question?
Stock #IGL03351
Quality Score
Status
Chromosome17
Chromosomal Location56412426-56476483 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 56437943 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 264 (K264N)
Ref Sequence ENSEMBL: ENSMUSP00000153134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]
Predicted Effect probably damaging
Transcript: ENSMUST00000067538
AA Change: K264N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: K264N

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
IGc2 45 114 3.38e-10 SMART
IGc2 147 214 2.4e-15 SMART
IGc2 244 305 8.26e-5 SMART
FN3 319 398 2.8e-14 SMART
FN3 414 497 3.24e-10 SMART
FN3 512 590 3.17e-13 SMART
FN3 605 692 9.69e-9 SMART
FN3 707 796 2.42e-9 SMART
FN3 811 890 2.22e0 SMART
FN3 905 995 8.31e-8 SMART
FN3 1009 1085 3.22e-5 SMART
low complexity region 1164 1177 N/A INTRINSIC
transmembrane domain 1259 1281 N/A INTRINSIC
PTPc 1351 1609 1.54e-136 SMART
PTPc 1638 1900 3.12e-128 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000086828
AA Change: K264N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: K264N

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
IGc2 45 114 3.38e-10 SMART
IGc2 147 214 2.4e-15 SMART
IGc2 244 305 8.26e-5 SMART
FN3 319 398 2.8e-14 SMART
FN3 414 497 3.24e-10 SMART
FN3 512 590 3.17e-13 SMART
FN3 603 679 2.54e-3 SMART
low complexity region 758 771 N/A INTRINSIC
transmembrane domain 853 875 N/A INTRINSIC
PTPc 945 1203 1.54e-136 SMART
PTPc 1232 1494 3.12e-128 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143018
Predicted Effect probably benign
Transcript: ENSMUST00000223642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223691
Predicted Effect probably damaging
Transcript: ENSMUST00000223859
AA Change: K264N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225785
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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550L24Rik G A X: 58,918,937 V19I probably benign Het
4932414N04Rik T A 2: 68,731,083 D251E probably benign Het
4932415D10Rik T C 10: 82,283,567 probably benign Het
5730460C07Rik C T 3: 153,789,958 noncoding transcript Het
Coch G A 12: 51,603,206 R326Q probably benign Het
Cpa3 A G 3: 20,215,962 V366A probably benign Het
Csf1r C T 18: 61,117,108 Q382* probably null Het
Csta1 C A 16: 36,131,041 G4* probably null Het
Cts7 T C 13: 61,356,603 R49G probably damaging Het
Dlg5 A G 14: 24,170,454 V575A probably benign Het
Ero1l G T 14: 45,294,533 N227K probably benign Het
Faap24 G T 7: 35,395,309 C58* probably null Het
Gm13089 G A 4: 143,697,088 T377I possibly damaging Het
Hfm1 G A 5: 106,911,575 Q194* probably null Het
Hs3st5 T A 10: 36,833,323 Y285N probably damaging Het
Hyal6 G A 6: 24,743,429 G375R probably damaging Het
Itgb5 T C 16: 33,910,552 S93P probably benign Het
Kcnj6 A T 16: 94,832,583 M205K probably damaging Het
Kdm6a C T X: 18,247,104 Q92* probably null Het
Klhl38 A G 15: 58,323,330 M1T probably null Het
Krtap7-1 T C 16: 89,507,996 probably benign Het
L1cam T C X: 73,863,028 T270A probably damaging Het
Lmod2 A G 6: 24,598,016 N45S probably benign Het
Mmp2 A G 8: 92,839,342 I424V probably benign Het
Myh8 A G 11: 67,303,913 Q1650R possibly damaging Het
Naalad2 T A 9: 18,364,187 E313V possibly damaging Het
Nipsnap3a A G 4: 52,994,134 T74A probably benign Het
Npr2 G T 4: 43,640,652 M368I probably benign Het
Nupl1 T C 14: 60,228,775 T445A probably benign Het
Olfr294 A G 7: 86,615,677 Y323H possibly damaging Het
Olfr582 A G 7: 103,042,130 D212G probably damaging Het
Pkp3 A G 7: 141,082,693 T73A probably benign Het
Pole A G 5: 110,301,998 probably benign Het
Ppp2r3a C T 9: 101,211,192 G644D probably benign Het
Ptprb T C 10: 116,339,582 Y1161H probably benign Het
Rasal2 T C 1: 157,192,741 probably benign Het
Serpina6 A T 12: 103,646,913 I376N probably damaging Het
Setx T G 2: 29,161,799 I2062M probably benign Het
Slc9c1 A G 16: 45,543,168 D99G probably benign Het
Taok1 A G 11: 77,560,328 Y309H probably damaging Het
Trappc10 T C 10: 78,188,761 D1178G probably damaging Het
Trav5-1 G A 14: 52,622,845 E36K probably damaging Het
Vmn1r237 T C 17: 21,314,837 V274A probably benign Het
Vmn1r29 A T 6: 58,307,750 S152C probably damaging Het
Washc5 C A 15: 59,363,350 probably benign Het
Zfp369 T G 13: 65,296,153 L370R possibly damaging Het
Zfp750 T C 11: 121,513,347 Y234C probably damaging Het
Other mutations in Ptprs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Ptprs APN 17 56458243 missense probably damaging 0.99
IGL01388:Ptprs APN 17 56421261 missense probably damaging 1.00
IGL01568:Ptprs APN 17 56413958 missense probably damaging 1.00
IGL01781:Ptprs APN 17 56435676 missense probably damaging 1.00
IGL02499:Ptprs APN 17 56437884 missense probably damaging 1.00
IGL02576:Ptprs APN 17 56414958 missense probably damaging 1.00
IGL02736:Ptprs APN 17 56458248 missense possibly damaging 0.88
IGL02871:Ptprs APN 17 56447443 missense probably damaging 1.00
IGL02946:Ptprs APN 17 56424032 missense probably benign
IGL03061:Ptprs APN 17 56418830 missense probably damaging 0.96
IGL03347:Ptprs APN 17 56435972 missense probably benign 0.07
P0019:Ptprs UTSW 17 56447474 splice site probably benign
R0240:Ptprs UTSW 17 56436087 unclassified probably null
R0240:Ptprs UTSW 17 56436087 unclassified probably null
R0504:Ptprs UTSW 17 56454220 missense possibly damaging 0.60
R0518:Ptprs UTSW 17 56419621 critical splice donor site probably null
R0539:Ptprs UTSW 17 56458255 missense probably damaging 0.97
R0620:Ptprs UTSW 17 56429103 missense possibly damaging 0.93
R0683:Ptprs UTSW 17 56414086 missense probably damaging 1.00
R1147:Ptprs UTSW 17 56423504 missense probably damaging 1.00
R1147:Ptprs UTSW 17 56423504 missense probably damaging 1.00
R1474:Ptprs UTSW 17 56424128 missense probably damaging 0.98
R1502:Ptprs UTSW 17 56437992 missense probably benign 0.00
R1817:Ptprs UTSW 17 56419527 missense probably damaging 1.00
R1844:Ptprs UTSW 17 56434510 missense probably damaging 1.00
R2077:Ptprs UTSW 17 56434990 missense probably null 0.26
R2086:Ptprs UTSW 17 56454984 missense probably null 0.05
R2149:Ptprs UTSW 17 56417706 missense probably damaging 1.00
R3618:Ptprs UTSW 17 56428965 missense probably benign 0.25
R3722:Ptprs UTSW 17 56417485 missense probably damaging 1.00
R3771:Ptprs UTSW 17 56428978 missense possibly damaging 0.58
R3772:Ptprs UTSW 17 56428978 missense possibly damaging 0.58
R3773:Ptprs UTSW 17 56428978 missense possibly damaging 0.58
R4032:Ptprs UTSW 17 56413386 missense probably damaging 1.00
R4326:Ptprs UTSW 17 56447468 missense possibly damaging 0.83
R4327:Ptprs UTSW 17 56447468 missense possibly damaging 0.83
R4480:Ptprs UTSW 17 56426404 missense possibly damaging 0.79
R4505:Ptprs UTSW 17 56451678 missense possibly damaging 0.57
R4507:Ptprs UTSW 17 56419014 missense probably damaging 1.00
R4588:Ptprs UTSW 17 56425534 missense probably damaging 1.00
R4662:Ptprs UTSW 17 56417666 missense probably damaging 1.00
R4708:Ptprs UTSW 17 56428067 missense probably damaging 1.00
R5016:Ptprs UTSW 17 56419070 missense probably damaging 1.00
R5416:Ptprs UTSW 17 56435724 missense probably damaging 1.00
R5447:Ptprs UTSW 17 56429128 missense possibly damaging 0.50
R6041:Ptprs UTSW 17 56419080 missense probably benign 0.00
R6329:Ptprs UTSW 17 56417427 nonsense probably null
R6377:Ptprs UTSW 17 56418935 missense probably damaging 1.00
R6605:Ptprs UTSW 17 56422195 missense probably damaging 1.00
R6749:Ptprs UTSW 17 56437884 missense probably damaging 1.00
R7113:Ptprs UTSW 17 56451697 missense not run
R7114:Ptprs UTSW 17 56451697 missense not run
R7133:Ptprs UTSW 17 56417429 missense not run
X0028:Ptprs UTSW 17 56437831 missense probably damaging 1.00
Posted On2016-08-02