Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01757:Ptpn23'

153204

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01757

Quality Score

Status

Chromosome

Chromosomal Location

110385082-110408213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110391636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 269 (R269W)

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

probably damaging
Transcript: ENSMUST00000040021
AA Change: R269W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: R269W

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

noncoding transcript
Transcript: ENSMUST00000199254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200278

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 45,990,281		probably benign	Het
Adamts9	T	C	6: 92,796,159	Y1789C	probably damaging	Het
Cdcp1	A	T	9: 123,180,001	Y537*	probably null	Het
Chic2	T	C	5: 75,006,767		probably benign	Het
Cpa5	G	A	6: 30,625,927		probably benign	Het
Csgalnact2	T	C	6: 118,129,346	R4G	probably damaging	Het
Dnah10	T	A	5: 124,768,927	V1510D	probably benign	Het
Dnm2	T	A	9: 21,465,619	F91L	probably damaging	Het
Eif2b1	T	C	5: 124,573,140	K189E	probably benign	Het
Fgf17	A	T	14: 70,636,980	L123Q	probably damaging	Het
Ifna15	T	C	4: 88,558,085	K54R	possibly damaging	Het
Isg15	A	G	4: 156,199,844	C76R	probably damaging	Het
Ldb2	A	T	5: 44,541,867		probably benign	Het
Lig4	A	G	8: 9,971,185	I865T	probably benign	Het
Lrrc46	T	C	11: 97,035,875	Y154C	probably damaging	Het
Lrrc8a	G	A	2: 30,255,525	R117H	possibly damaging	Het
Mrpl2	A	G	17: 46,648,257	I96V	probably damaging	Het
Mtif2	G	A	11: 29,541,337		probably benign	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Senp2	T	C	16: 22,009,664	V8A	probably benign	Het
Slf1	T	C	13: 77,084,440	D515G	probably benign	Het
Spc25	G	A	2: 69,202,608	Q58*	probably null	Het
Sult2a5	T	C	7: 13,665,154	S229P	probably damaging	Het
Tfap2d	A	G	1: 19,104,580	T86A	probably benign	Het
Trp53bp1	A	G	2: 121,211,304	V1257A	probably damaging	Het
Wdr6	A	G	9: 108,576,228	V152A	possibly damaging	Het
Zdhhc7	A	G	8: 120,087,923	V49A	probably benign	Het
Zfp648	T	C	1: 154,204,925	S277P	probably damaging	Het

Other mutations in Ptpn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Ptpn23	APN	9	110388106	missense	probably benign	0.00
IGL01462:Ptpn23	APN	9	110408107	missense	probably benign	0.33
IGL01666:Ptpn23	APN	9	110386545	missense	possibly damaging	0.95
IGL02402:Ptpn23	APN	9	110393713	missense	possibly damaging	0.81
IGL02891:Ptpn23	APN	9	110388020	nonsense	probably null
peony	UTSW	9	110386507	missense	probably damaging	0.97
FR4449:Ptpn23	UTSW	9	110387633	missense	probably benign	0.15
FR4548:Ptpn23	UTSW	9	110387633	missense	probably benign	0.15
FR4737:Ptpn23	UTSW	9	110387633	missense	probably benign	0.15
FR4976:Ptpn23	UTSW	9	110387633	missense	probably benign	0.15
R0111:Ptpn23	UTSW	9	110385623	missense	probably damaging	0.97
R0377:Ptpn23	UTSW	9	110388132	missense	possibly damaging	0.73
R0432:Ptpn23	UTSW	9	110389010	critical splice donor site	probably null
R0456:Ptpn23	UTSW	9	110389793	splice site	probably null
R0457:Ptpn23	UTSW	9	110386293	missense	possibly damaging	0.95
R0988:Ptpn23	UTSW	9	110388777	missense	probably benign	0.02
R1072:Ptpn23	UTSW	9	110386595	missense	probably benign	0.29
R1769:Ptpn23	UTSW	9	110391678	missense	possibly damaging	0.89
R1859:Ptpn23	UTSW	9	110388870	missense	possibly damaging	0.92
R1891:Ptpn23	UTSW	9	110393800	missense	possibly damaging	0.74
R1915:Ptpn23	UTSW	9	110386507	missense	probably damaging	0.97
R1954:Ptpn23	UTSW	9	110386325	missense	probably damaging	0.99
R2299:Ptpn23	UTSW	9	110392513	missense	possibly damaging	0.72
R2431:Ptpn23	UTSW	9	110386279	nonsense	probably null
R2445:Ptpn23	UTSW	9	110387632	missense	possibly damaging	0.79
R3014:Ptpn23	UTSW	9	110389695	missense	probably benign
R3820:Ptpn23	UTSW	9	110389794	unclassified	probably benign
R3904:Ptpn23	UTSW	9	110389245	missense	probably benign	0.11
R4441:Ptpn23	UTSW	9	110392725	missense	probably benign	0.01
R4464:Ptpn23	UTSW	9	110386813	missense	probably damaging	1.00
R4709:Ptpn23	UTSW	9	110388856	missense	possibly damaging	0.86
R4810:Ptpn23	UTSW	9	110389136	missense	possibly damaging	0.93
R4937:Ptpn23	UTSW	9	110392738	missense	probably benign	0.09
R5023:Ptpn23	UTSW	9	110388556	missense	probably benign	0.00
R5057:Ptpn23	UTSW	9	110388556	missense	probably benign	0.00
R5065:Ptpn23	UTSW	9	110398188	missense	possibly damaging	0.91
R5143:Ptpn23	UTSW	9	110385438	unclassified	probably benign
R5370:Ptpn23	UTSW	9	110385701	missense	possibly damaging	0.79
R5534:Ptpn23	UTSW	9	110392741	missense	possibly damaging	0.95
R5715:Ptpn23	UTSW	9	110387075	missense	probably damaging	1.00
R5914:Ptpn23	UTSW	9	110385443	unclassified	probably benign
R6122:Ptpn23	UTSW	9	110387825	unclassified	probably benign
R6155:Ptpn23	UTSW	9	110387781	unclassified	probably benign
R6156:Ptpn23	UTSW	9	110387781	unclassified	probably benign
R6296:Ptpn23	UTSW	9	110393826	missense	probably damaging	0.96
R6755:Ptpn23	UTSW	9	110389787	missense	probably damaging	0.98
R7018:Ptpn23	UTSW	9	110385816	missense	possibly damaging	0.89
R7126:Ptpn23	UTSW	9	110388744	missense	probably benign	0.00
R7181:Ptpn23	UTSW	9	110385257	missense	unknown
R7578:Ptpn23	UTSW	9	110387608	missense	probably benign	0.33
R7675:Ptpn23	UTSW	9	110387026	nonsense	probably null
R7776:Ptpn23	UTSW	9	110386300	missense	possibly damaging	0.89
R7797:Ptpn23	UTSW	9	110393807	missense	possibly damaging	0.86
R8071:Ptpn23	UTSW	9	110388199	missense	probably damaging	0.98
R8071:Ptpn23	UTSW	9	110388200	missense	possibly damaging	0.93
R8954:Ptpn23	UTSW	9	110392500	missense	probably damaging	1.00
R9063:Ptpn23	UTSW	9	110389625	missense	possibly damaging	0.85
R9208:Ptpn23	UTSW	9	110408033	critical splice donor site	probably null
R9380:Ptpn23	UTSW	9	110392513	missense	possibly damaging	0.72
R9404:Ptpn23	UTSW	9	110386957	missense
R9570:Ptpn23	UTSW	9	110398149	missense	probably damaging	0.96
R9649:Ptpn23	UTSW	9	110386158	critical splice acceptor site	probably null
X0062:Ptpn23	UTSW	9	110387707	missense	probably benign	0.00

Posted On

2014-02-04