Incidental Mutation 'R0456:Ptpn23'
ID 40032
Institutional Source Beutler Lab
Gene Symbol Ptpn23
Ensembl Gene ENSMUSG00000036057
Gene Name protein tyrosine phosphatase, non-receptor type 23
Synonyms PTP-TD14
MMRRC Submission 038656-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0456 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 110214152-110237278 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 110218861 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: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 G A 18: 12,429,036 (GRCm39) P11L probably damaging Het
Antxr1 A C 6: 87,194,257 (GRCm39) V347G probably damaging Het
Atp13a5 T C 16: 29,051,492 (GRCm39) N1127D probably benign Het
Bivm T A 1: 44,165,969 (GRCm39) W140R probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Ceacam5 T C 7: 17,494,776 (GRCm39) V928A possibly damaging Het
Chia1 T C 3: 106,035,795 (GRCm39) Y152H probably damaging Het
Chsy3 A T 18: 59,309,550 (GRCm39) I268F probably damaging Het
CK137956 A T 4: 127,839,100 (GRCm39) N439K probably damaging Het
Csf3r C A 4: 125,929,654 (GRCm39) N392K probably damaging Het
Cyp1b1 T C 17: 80,017,704 (GRCm39) I484V probably benign Het
Dsc1 T C 18: 20,232,169 (GRCm39) K280E probably damaging Het
Eefsec A G 6: 88,274,870 (GRCm39) Y365H probably benign Het
Epb41l4b C T 4: 57,142,843 (GRCm39) probably null Het
Erap1 G A 13: 74,812,339 (GRCm39) V385I probably benign Het
Fat1 A T 8: 45,482,571 (GRCm39) I3077F probably damaging Het
Fras1 T G 5: 96,862,202 (GRCm39) probably null Het
Fras1 G T 5: 96,702,647 (GRCm39) G230C probably damaging Het
Gsg1l A G 7: 125,522,682 (GRCm39) M182T possibly damaging Het
Gzmg A G 14: 56,395,779 (GRCm39) V60A probably damaging Het
H4c6 T C 13: 23,735,561 (GRCm39) D86G probably damaging Het
Hapln4 A T 8: 70,537,645 (GRCm39) Y113F probably benign Het
Ikzf4 T A 10: 128,471,677 (GRCm39) T274S probably damaging Het
Kansl1l T A 1: 66,774,885 (GRCm39) H302L probably damaging Het
Klhl41 T C 2: 69,500,893 (GRCm39) V118A probably damaging Het
Kpna1 T C 16: 35,823,270 (GRCm39) S41P possibly damaging Het
Krt23 A G 11: 99,377,604 (GRCm39) V134A probably benign Het
Lamb1 G A 12: 31,354,729 (GRCm39) C992Y probably damaging Het
Lrif1 C T 3: 106,639,094 (GRCm39) P35S probably benign Het
Lrrc4 A G 6: 28,831,103 (GRCm39) S171P probably damaging Het
Lvrn G A 18: 46,997,883 (GRCm39) probably null Het
Matr3 T A 18: 35,705,917 (GRCm39) F281I probably damaging Het
Meak7 A T 8: 120,495,162 (GRCm39) F199I probably damaging Het
Nxn G A 11: 76,153,963 (GRCm39) Q291* probably null Het
Or5b113 A G 19: 13,342,102 (GRCm39) T37A probably damaging Het
Pdp2 G T 8: 105,320,421 (GRCm39) R90L probably damaging Het
Ppp1r3c C A 19: 36,711,291 (GRCm39) E160* probably null Het
Ppp2r5c T G 12: 110,489,013 (GRCm39) S118R probably damaging Het
Ptpro G T 6: 137,391,228 (GRCm39) V783L probably benign Het
Rab40c A G 17: 26,103,631 (GRCm39) V144A possibly damaging Het
Rasal2 T C 1: 156,977,413 (GRCm39) N1087S probably damaging Het
Rfc3 T A 5: 151,570,988 (GRCm39) S103C possibly damaging Het
Rgl2 A G 17: 34,155,823 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rit2 A T 18: 31,108,504 (GRCm39) F160L probably benign Het
Rnh1 A G 7: 140,742,461 (GRCm39) S366P possibly damaging Het
Sdk2 T C 11: 113,682,292 (GRCm39) Y2029C possibly damaging Het
Smpd3 T A 8: 106,986,288 (GRCm39) I505F probably benign Het
Sorcs3 A T 19: 48,642,483 (GRCm39) S379C possibly damaging Het
Sult1e1 A G 5: 87,726,493 (GRCm39) L207P possibly damaging Het
Sycp2 C G 2: 178,023,648 (GRCm39) S456T probably benign Het
Syne1 T C 10: 5,292,252 (GRCm39) T1339A probably benign Het
Tas2r117 A G 6: 132,780,354 (GRCm39) N164S probably benign Het
Tigd3 A G 19: 5,942,821 (GRCm39) L103P probably damaging Het
Tmem132b T C 5: 125,864,788 (GRCm39) S965P probably damaging Het
Tmem82 T C 4: 141,344,701 (GRCm39) T81A probably benign Het
Tmem8b A G 4: 43,685,618 (GRCm39) T156A probably benign Het
Tnfrsf21 A G 17: 43,348,982 (GRCm39) E198G probably benign Het
Tnpo2 A G 8: 85,781,045 (GRCm39) N767S probably damaging Het
Trf T C 9: 103,104,102 (GRCm39) Y87C probably damaging Het
Tst A G 15: 78,289,780 (GRCm39) V85A probably damaging Het
Usp37 A T 1: 74,507,507 (GRCm39) N503K probably damaging Het
Utp20 C T 10: 88,590,435 (GRCm39) M2346I possibly damaging Het
Vax2 A G 6: 83,688,388 (GRCm39) D37G probably benign Het
Vmn1r77 T A 7: 11,775,665 (GRCm39) L79* probably null Het
Zbtb3 A T 19: 8,780,564 (GRCm39) D59V probably damaging Het
Zdhhc13 T C 7: 48,458,602 (GRCm39) F182S probably benign Het
Zfp426 A G 9: 20,381,593 (GRCm39) F465L probably damaging Het
Zfp526 A G 7: 24,925,637 (GRCm39) E632G probably damaging 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
R0432:Ptpn23 UTSW 9 110,218,078 (GRCm39) critical splice donor 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'- GGTTCATAGCACGATGCAGCTCAC -3'
(R):5'- CCTGACACTGTCAAGAACCTTGTCC -3'

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