Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00327:Ptpn23'

4808

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 #

IGL00327

Quality Score

Status

Chromosome

Chromosomal Location

110214152-110237278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 110217174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 894 (T894K)

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

probably benign
Transcript: ENSMUST00000040021
AA Change: T894K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: T894K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098350

SMART Domains

Protein: ENSMUSP00000095953
Gene: ENSMUSG00000032485

Domain	Start	End	E-Value	Type
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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 100,949,367 (GRCm39)	L60S	probably damaging	Het
Aup1	A	G	6: 83,033,390 (GRCm39)	E267G	probably damaging	Het
Bpi	T	C	2: 158,116,764 (GRCm39)		probably benign	Het
Brinp2	A	G	1: 158,074,670 (GRCm39)	Y484H	probably benign	Het
Colq	C	T	14: 31,257,545 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,431,867 (GRCm39)	D1242G	possibly damaging	Het
Dclre1c	T	A	2: 3,434,821 (GRCm39)	L95*	probably null	Het
Fry	C	T	5: 150,263,869 (GRCm39)	R171*	probably null	Het
Krt23	T	C	11: 99,383,610 (GRCm39)	E94G	probably damaging	Het
Krt6b	T	G	15: 101,588,267 (GRCm39)	Q131P	probably benign	Het
Lonp1	A	G	17: 56,926,265 (GRCm39)	L414P	probably damaging	Het
Lrit2	T	A	14: 36,793,920 (GRCm39)	M328K	probably benign	Het
Lysmd3	C	T	13: 81,813,197 (GRCm39)	L22F	probably benign	Het
Map3k20	A	G	2: 72,242,514 (GRCm39)	D388G	probably damaging	Het
Mrpl44	C	T	1: 79,758,721 (GRCm39)	L290F	probably benign	Het
Nell1	A	G	7: 49,770,421 (GRCm39)	H160R	probably damaging	Het
Nlrc3	T	C	16: 3,773,030 (GRCm39)	N109S	probably damaging	Het
Prpf40a	T	C	2: 53,040,700 (GRCm39)	T553A	probably benign	Het
Scgb2b27	A	G	7: 33,712,771 (GRCm39)	C24R	probably damaging	Het
Sipa1l3	G	T	7: 29,053,558 (GRCm39)	H140N	probably damaging	Het
Slc22a23	T	G	13: 34,489,228 (GRCm39)	D219A	probably damaging	Het
Slc9a7	T	C	X: 20,005,158 (GRCm39)	Y557C	probably damaging	Het
Slco1a1	A	T	6: 141,854,851 (GRCm39)	I600N	probably damaging	Het
Tmx2	T	C	2: 84,503,643 (GRCm39)	N190S	probably benign	Het
Tpr	T	G	1: 150,299,447 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,082,512 (GRCm39)	V501A	probably benign	Het

Other mutations in Ptpn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20