Incidental Mutation 'IGL01666:Ptpn23'
ID 103320
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptpn23
Ensembl Gene ENSMUSG00000036057
Gene Name protein tyrosine phosphatase, non-receptor type 23
Synonyms PTP-TD14
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01666
Quality Score
Status
Chromosome 9
Chromosomal Location 110214152-110237278 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110215613 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1384 (T1384A)
Ref Sequence ENSEMBL: ENSMUSP00000039580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040021] [ENSMUST00000098350]
AlphaFold Q6PB44
PDB Structure MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040021
AA Change: T1384A

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: T1384A

DomainStartEndE-ValueType
BRO1 8 384 5.94e-159 SMART
Pfam:ALIX_LYPXL_bnd 416 704 1.4e-64 PFAM
low complexity region 715 728 N/A INTRINSIC
low complexity region 774 785 N/A INTRINSIC
low complexity region 849 858 N/A INTRINSIC
low complexity region 905 928 N/A INTRINSIC
internal_repeat_1 929 942 8.2e-5 PROSPERO
internal_repeat_1 943 956 8.2e-5 PROSPERO
low complexity region 977 1018 N/A INTRINSIC
low complexity region 1040 1061 N/A INTRINSIC
low complexity region 1088 1106 N/A INTRINSIC
low complexity region 1128 1160 N/A INTRINSIC
low complexity region 1185 1200 N/A INTRINSIC
low complexity region 1225 1235 N/A INTRINSIC
PTPc 1246 1510 1.28e-92 SMART
low complexity region 1576 1587 N/A INTRINSIC
low complexity region 1589 1643 N/A INTRINSIC
Blast:PTPc 1644 1673 9e-8 BLAST
low complexity region 1675 1689 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098350
SMART Domains Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
low complexity region 43 54 N/A INTRINSIC
low complexity region 153 165 N/A INTRINSIC
Pfam:Patched 279 504 4.7e-24 PFAM
Pfam:Sterol-sensing 308 459 7.6e-54 PFAM
transmembrane domain 515 534 N/A INTRINSIC
transmembrane domain 711 733 N/A INTRINSIC
low complexity region 741 751 N/A INTRINSIC
WD40 765 802 1.79e-1 SMART
low complexity region 847 865 N/A INTRINSIC
low complexity region 928 944 N/A INTRINSIC
WD40 953 990 9.86e1 SMART
low complexity region 1050 1060 N/A INTRINSIC
WD40 1062 1102 4.18e-2 SMART
WD40 1105 1143 5.64e-8 SMART
WD40 1147 1183 2.4e-1 SMART
WD40 1186 1223 2.56e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200278
Predicted Effect probably benign
Transcript: ENSMUST00000200531
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
PHENOTYPE: Embryos homozygous for a gene trap allele are significantly growth retarded and fail to reach the E8.5 stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,499,832 (GRCm39) A664S probably damaging Het
Ankrd61 T A 5: 143,827,954 (GRCm39) L297F probably damaging Het
Chrnd A T 1: 87,126,458 (GRCm39) S513C possibly damaging Het
Col24a1 G A 3: 145,050,447 (GRCm39) V645M possibly damaging Het
Csn3 T C 5: 88,078,016 (GRCm39) V174A unknown Het
D630039A03Rik C T 4: 57,910,570 (GRCm39) V81I possibly damaging Het
Deptor G A 15: 55,012,775 (GRCm39) R54Q probably damaging Het
Ell A G 8: 71,038,463 (GRCm39) H400R probably benign Het
Fcgbpl1 G A 7: 27,852,717 (GRCm39) V1335M probably damaging Het
Itga2 A G 13: 114,973,627 (GRCm39) probably null Het
Itpr3 A G 17: 27,336,152 (GRCm39) I2293V probably benign Het
Matcap2 A G 9: 22,342,994 (GRCm39) D163G probably benign Het
Mmut T C 17: 41,269,702 (GRCm39) L687P probably damaging Het
Mrps27 A G 13: 99,546,324 (GRCm39) E241G probably damaging Het
Myh9 C T 15: 77,646,131 (GRCm39) A1951T probably benign Het
Oca2 G A 7: 55,964,559 (GRCm39) probably null Het
Or2n1c C T 17: 38,519,780 (GRCm39) L215F probably benign Het
Or6d15 T A 6: 116,559,296 (GRCm39) I204F possibly damaging Het
Ptgdr2 T C 19: 10,918,274 (GRCm39) F264L probably benign Het
Rasgrf2 A T 13: 92,174,718 (GRCm39) D170E probably damaging Het
Rnf20 C T 4: 49,654,486 (GRCm39) Q848* probably null Het
Other mutations in Ptpn23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Ptpn23 APN 9 110,217,174 (GRCm39) missense probably benign 0.00
IGL01462:Ptpn23 APN 9 110,237,175 (GRCm39) missense probably benign 0.33
IGL01757:Ptpn23 APN 9 110,220,704 (GRCm39) missense probably damaging 1.00
IGL02402:Ptpn23 APN 9 110,222,781 (GRCm39) missense possibly damaging 0.81
IGL02891:Ptpn23 APN 9 110,217,088 (GRCm39) nonsense probably null
peony UTSW 9 110,215,575 (GRCm39) missense probably damaging 0.97
FR4449:Ptpn23 UTSW 9 110,216,701 (GRCm39) missense probably benign 0.15
FR4548:Ptpn23 UTSW 9 110,216,701 (GRCm39) missense probably benign 0.15
FR4737:Ptpn23 UTSW 9 110,216,701 (GRCm39) missense probably benign 0.15
FR4976:Ptpn23 UTSW 9 110,216,701 (GRCm39) missense probably benign 0.15
R0111:Ptpn23 UTSW 9 110,214,691 (GRCm39) missense probably damaging 0.97
R0377:Ptpn23 UTSW 9 110,217,200 (GRCm39) missense possibly damaging 0.73
R0432:Ptpn23 UTSW 9 110,218,078 (GRCm39) critical splice donor site probably null
R0456:Ptpn23 UTSW 9 110,218,861 (GRCm39) splice site probably null
R0457:Ptpn23 UTSW 9 110,215,361 (GRCm39) missense possibly damaging 0.95
R0988:Ptpn23 UTSW 9 110,217,845 (GRCm39) missense probably benign 0.02
R1072:Ptpn23 UTSW 9 110,215,663 (GRCm39) missense probably benign 0.29
R1769:Ptpn23 UTSW 9 110,220,746 (GRCm39) missense possibly damaging 0.89
R1859:Ptpn23 UTSW 9 110,217,938 (GRCm39) missense possibly damaging 0.92
R1891:Ptpn23 UTSW 9 110,222,868 (GRCm39) missense possibly damaging 0.74
R1915:Ptpn23 UTSW 9 110,215,575 (GRCm39) missense probably damaging 0.97
R1954:Ptpn23 UTSW 9 110,215,393 (GRCm39) missense probably damaging 0.99
R2299:Ptpn23 UTSW 9 110,221,581 (GRCm39) missense possibly damaging 0.72
R2431:Ptpn23 UTSW 9 110,215,347 (GRCm39) nonsense probably null
R2445:Ptpn23 UTSW 9 110,216,700 (GRCm39) missense possibly damaging 0.79
R3014:Ptpn23 UTSW 9 110,218,763 (GRCm39) missense probably benign
R3820:Ptpn23 UTSW 9 110,218,862 (GRCm39) unclassified probably benign
R3904:Ptpn23 UTSW 9 110,218,313 (GRCm39) missense probably benign 0.11
R4441:Ptpn23 UTSW 9 110,221,793 (GRCm39) missense probably benign 0.01
R4464:Ptpn23 UTSW 9 110,215,881 (GRCm39) missense probably damaging 1.00
R4709:Ptpn23 UTSW 9 110,217,924 (GRCm39) missense possibly damaging 0.86
R4810:Ptpn23 UTSW 9 110,218,204 (GRCm39) missense possibly damaging 0.93
R4937:Ptpn23 UTSW 9 110,221,806 (GRCm39) missense probably benign 0.09
R5023:Ptpn23 UTSW 9 110,217,624 (GRCm39) missense probably benign 0.00
R5057:Ptpn23 UTSW 9 110,217,624 (GRCm39) missense probably benign 0.00
R5065:Ptpn23 UTSW 9 110,227,256 (GRCm39) missense possibly damaging 0.91
R5143:Ptpn23 UTSW 9 110,214,506 (GRCm39) unclassified probably benign
R5370:Ptpn23 UTSW 9 110,214,769 (GRCm39) missense possibly damaging 0.79
R5534:Ptpn23 UTSW 9 110,221,809 (GRCm39) missense possibly damaging 0.95
R5715:Ptpn23 UTSW 9 110,216,143 (GRCm39) missense probably damaging 1.00
R5914:Ptpn23 UTSW 9 110,214,511 (GRCm39) unclassified probably benign
R6122:Ptpn23 UTSW 9 110,216,893 (GRCm39) unclassified probably benign
R6155:Ptpn23 UTSW 9 110,216,849 (GRCm39) unclassified probably benign
R6156:Ptpn23 UTSW 9 110,216,849 (GRCm39) unclassified probably benign
R6296:Ptpn23 UTSW 9 110,222,894 (GRCm39) missense probably damaging 0.96
R6755:Ptpn23 UTSW 9 110,218,855 (GRCm39) missense probably damaging 0.98
R7018:Ptpn23 UTSW 9 110,214,884 (GRCm39) missense possibly damaging 0.89
R7126:Ptpn23 UTSW 9 110,217,812 (GRCm39) missense probably benign 0.00
R7181:Ptpn23 UTSW 9 110,214,325 (GRCm39) missense unknown
R7578:Ptpn23 UTSW 9 110,216,676 (GRCm39) missense probably benign 0.33
R7675:Ptpn23 UTSW 9 110,216,094 (GRCm39) nonsense probably null
R7776:Ptpn23 UTSW 9 110,215,368 (GRCm39) missense possibly damaging 0.89
R7797:Ptpn23 UTSW 9 110,222,875 (GRCm39) missense possibly damaging 0.86
R8071:Ptpn23 UTSW 9 110,217,268 (GRCm39) missense possibly damaging 0.93
R8071:Ptpn23 UTSW 9 110,217,267 (GRCm39) missense probably damaging 0.98
R8954:Ptpn23 UTSW 9 110,221,568 (GRCm39) missense probably damaging 1.00
R9063:Ptpn23 UTSW 9 110,218,693 (GRCm39) missense possibly damaging 0.85
R9208:Ptpn23 UTSW 9 110,237,101 (GRCm39) critical splice donor site probably null
R9380:Ptpn23 UTSW 9 110,221,581 (GRCm39) missense possibly damaging 0.72
R9404:Ptpn23 UTSW 9 110,216,025 (GRCm39) missense
R9570:Ptpn23 UTSW 9 110,227,217 (GRCm39) missense probably damaging 0.96
R9649:Ptpn23 UTSW 9 110,215,226 (GRCm39) critical splice acceptor site probably null
X0062:Ptpn23 UTSW 9 110,216,775 (GRCm39) missense probably benign 0.00
Posted On 2014-01-21