Mutagenetix > Incidental Mutation

Incidental Mutation 'R5065:Ptpn23'

388298

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

042655-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110214152-110237278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110227256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 31 (L31Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040021]

AlphaFold

Q6PB44

PDB Structure

MONA SH3C IN COMPLEX [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040021
AA Change: L31Q

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: L31Q

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

100% (36/36)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	T	A	1: 138,779,893 (GRCm39)	N120Y	probably damaging	Het
A930011G23Rik	G	A	5: 99,382,432 (GRCm39)	T272M	probably benign	Het
Aldh9a1	A	G	1: 167,180,128 (GRCm39)	E74G	probably damaging	Het
Asxl3	C	G	18: 22,658,356 (GRCm39)	A2122G	possibly damaging	Het
Bcl2l10	A	T	9: 75,255,261 (GRCm39)	E26V	possibly damaging	Het
Cspg4b	T	A	13: 113,457,453 (GRCm39)	H1166Q	probably benign	Het
Dennd2a	C	A	6: 39,472,110 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,832,883 (GRCm39)	F129L	probably damaging	Het
Gm4847	A	T	1: 166,462,359 (GRCm39)	I377N	probably damaging	Het
Gm8674	T	C	13: 50,056,613 (GRCm39)		noncoding transcript	Het
Hhipl2	A	T	1: 183,207,580 (GRCm39)	H433L	probably benign	Het
Hsfy2	G	A	1: 56,675,626 (GRCm39)	Q304*	probably null	Het
Ighg2c	T	C	12: 113,251,708 (GRCm39)	I140V	unknown	Het
Kmt2a	T	C	9: 44,753,997 (GRCm39)		probably benign	Het
Map3k5	A	G	10: 19,958,213 (GRCm39)	E671G	probably damaging	Het
Map6	A	G	7: 98,985,917 (GRCm39)	D607G	probably benign	Het
Mroh4	C	T	15: 74,500,119 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,546 (GRCm39)	I286V	probably benign	Het
Pcsk6	A	G	7: 65,560,047 (GRCm39)	D124G	possibly damaging	Het
Pkhd1l1	T	A	15: 44,445,689 (GRCm39)	N3790K	possibly damaging	Het
Polr3b	C	A	10: 84,468,402 (GRCm39)	N129K	probably benign	Het
Sema3c	A	G	5: 17,932,615 (GRCm39)	N706S	possibly damaging	Het
Sipa1l2	T	C	8: 126,218,324 (GRCm39)	I338V	probably benign	Het
Slc39a7	A	G	17: 34,250,033 (GRCm39)		probably benign	Het
Snd1	C	A	6: 28,888,239 (GRCm39)	N891K	probably damaging	Het
Sntg1	A	G	1: 8,433,663 (GRCm39)		probably benign	Het
Stxbp5	A	T	10: 9,646,295 (GRCm39)	L780Q	probably damaging	Het
Tacr1	G	A	6: 82,531,859 (GRCm39)	V252M	possibly damaging	Het
Tdrp	T	C	8: 14,003,791 (GRCm39)	E182G	probably damaging	Het
Vmn1r58	A	G	7: 5,413,834 (GRCm39)	I132T	probably benign	Het
Wap	A	T	11: 6,586,840 (GRCm39)	N86K	probably damaging	Het

Other mutations in Ptpn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTGACCACCACAGTAGAAGG -3'
(R):5'- CATTGATGCGTTCCTTGTCAGG -3'

Sequencing Primer
(F):5'- CCACCACAGTAGAAGGTAGACTTGTG -3'
(R):5'- CCGGGTTATAGTTGAGACTCCAGC -3'

Posted On

2016-06-06