Incidental Mutation 'R0432:Ptpn23'
ID 38839
Institutional Source Beutler Lab
Gene Symbol Ptpn23
Ensembl Gene ENSMUSG00000036057
Gene Name protein tyrosine phosphatase, non-receptor type 23
Synonyms PTP-TD14
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0432 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 110214152-110237278 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 110218078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040021] [ENSMUST00000040021] [ENSMUST00000098350]
AlphaFold Q6PB44
PDB Structure MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably null
Transcript: ENSMUST00000040021
SMART Domains Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057

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 null
Transcript: ENSMUST00000040021
SMART Domains Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057

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
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Abca8b C A 11: 109,870,841 (GRCm39) V104F possibly damaging Het
Afap1l2 T C 19: 56,905,551 (GRCm39) probably benign Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Dnmbp A T 19: 43,843,296 (GRCm39) Y432* probably null Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Eml2 C T 7: 18,913,456 (GRCm39) Q125* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr49 G T 3: 75,357,329 (GRCm39) R285S possibly damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C probably benign 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
IGL01666:Ptpn23 APN 9 110,215,613 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- TGGATTGTGCCCGTTCCAGAAG -3'
(R):5'- ACCACTGACCACTCAGAGATGAAGG -3'

Sequencing Primer
(F):5'- AGTCTGCATAAAAGTCCTTGCC -3'
(R):5'- CACTCAGAGATGAAGGTGGGTTG -3'
Posted On 2013-05-23