Mutagenetix > Incidental Mutation

Incidental Mutation 'R4810:Ptpn23'

371007

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

042429-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4810 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110214152-110237278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110218204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 611 (Y611H)

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

possibly damaging
Transcript: ENSMUST00000040021
AA Change: Y611H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: Y611H

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

Meta Mutation Damage Score

0.2577

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

99% (93/94)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,236,216 (GRCm39)	V1189A	possibly damaging	Het
A3galt2	T	C	4: 128,649,356 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,342,771 (GRCm39)	D903G	probably benign	Het
Abcc12	T	C	8: 87,287,471 (GRCm39)	M125V	probably damaging	Het
Adad1	A	G	3: 37,146,183 (GRCm39)	N517S	probably damaging	Het
Ankrd44	A	G	1: 54,774,302 (GRCm39)		probably benign	Het
Armc7	A	G	11: 115,379,787 (GRCm39)	I162V	probably benign	Het
Art3	T	A	5: 92,562,108 (GRCm39)	V343D	possibly damaging	Het
Bcl9l	A	G	9: 44,419,650 (GRCm39)	T1106A	probably damaging	Het
Ccdc141	T	C	2: 76,876,099 (GRCm39)	N644D	possibly damaging	Het
Ccdc154	T	C	17: 25,382,472 (GRCm39)	L98S	probably damaging	Het
Ccne1	A	G	7: 37,799,018 (GRCm39)	W237R	probably damaging	Het
Cd33	T	C	7: 43,182,134 (GRCm39)	I104V	probably damaging	Het
Ceacam1	A	T	7: 25,173,945 (GRCm39)	*237K	probably null	Het
Ces1e	T	A	8: 93,935,259 (GRCm39)	I398F	probably benign	Het
Cfap44	T	C	16: 44,271,898 (GRCm39)	I1217T	probably damaging	Het
Clns1a	T	C	7: 97,363,224 (GRCm39)	S199P	probably benign	Het
Cntn4	C	A	6: 106,632,572 (GRCm39)	T532K	probably benign	Het
Col11a2	C	T	17: 34,276,086 (GRCm39)	S470L	probably damaging	Het
Cst5	A	T	2: 149,247,463 (GRCm39)	R60*	probably null	Het
Cxcr6	A	T	9: 123,639,227 (GRCm39)	D83V	probably damaging	Het
Dis3l2	T	C	1: 86,975,296 (GRCm39)	V774A	probably damaging	Het
Dusp15	A	G	2: 152,787,374 (GRCm39)	L79P	probably damaging	Het
Elapor1	T	A	3: 108,377,327 (GRCm39)		probably benign	Het
Eml6	A	T	11: 29,705,011 (GRCm39)	V1511E	possibly damaging	Het
Epha5	C	T	5: 84,253,750 (GRCm39)	D548N	possibly damaging	Het
Fam227b	A	G	2: 125,829,859 (GRCm39)	F450L	probably benign	Het
Fam91a1	T	A	15: 58,306,589 (GRCm39)	L452Q	probably damaging	Het
Fbxo44	T	C	4: 148,240,903 (GRCm39)	Y199C	probably damaging	Het
Fgd3	A	G	13: 49,443,126 (GRCm39)	S149P	probably benign	Het
Gabra4	T	C	5: 71,781,325 (GRCm39)	E362G	probably damaging	Het
Galnt14	T	C	17: 73,819,116 (GRCm39)	I325V	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm10088	G	T	16: 18,847,081 (GRCm39)		noncoding transcript	Het
Grik5	T	C	7: 24,714,922 (GRCm39)	N691D	probably damaging	Het
Grm1	C	G	10: 10,658,438 (GRCm39)	D351H	probably damaging	Het
Grm8	T	C	6: 27,761,295 (GRCm39)	S310G	possibly damaging	Het
Gtf2h2	A	G	13: 100,617,510 (GRCm39)		probably null	Het
Hhex	G	T	19: 37,428,103 (GRCm39)	L49F	probably damaging	Het
Hkdc1	T	A	10: 62,247,304 (GRCm39)	R159S	probably benign	Het
Iqcm	A	G	8: 76,615,281 (GRCm39)	Y454C	probably damaging	Het
Kcnh8	G	A	17: 53,212,248 (GRCm39)		probably null	Het
Larp4b	A	G	13: 9,208,627 (GRCm39)	T427A	probably benign	Het
Mtmr3	A	T	11: 4,448,046 (GRCm39)	N297K	probably benign	Het
Nek8	G	A	11: 78,058,629 (GRCm39)	T557I	probably benign	Het
Nlrp9c	A	C	7: 26,077,602 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,617,273 (GRCm39)	D48E	probably benign	Het
Npepps	G	A	11: 97,131,759 (GRCm39)	T365I	probably damaging	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or8b44	C	A	9: 38,410,620 (GRCm39)	Y218*	probably null	Het
Or8c9	A	G	9: 38,241,690 (GRCm39)	E269G	probably benign	Het
Otud7b	C	T	3: 96,043,918 (GRCm39)	A23V	probably damaging	Het
Pcdhga9	G	A	18: 37,871,601 (GRCm39)	A477T	possibly damaging	Het
Plekha7	A	T	7: 115,744,173 (GRCm39)	I663N	probably damaging	Het
Plscr1l1	A	G	9: 92,236,683 (GRCm39)	D190G	probably damaging	Het
Polk	A	T	13: 96,620,003 (GRCm39)	S732R	possibly damaging	Het
Ppfia2	A	G	10: 106,751,551 (GRCm39)	I1166V	probably benign	Het
Ppp2r5a	C	T	1: 191,088,589 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,897,011 (GRCm39)	K401E	probably damaging	Het
Rab31	C	T	17: 66,028,998 (GRCm39)		probably null	Het
Rad51ap2	T	A	12: 11,507,406 (GRCm39)	C443S	probably damaging	Het
Ralgapa1	A	G	12: 55,841,778 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,699,721 (GRCm39)	L1406P	probably benign	Het
Rnaset2b	T	A	17: 7,259,167 (GRCm39)	D48E	probably benign	Het
Rnf13	G	T	3: 57,703,693 (GRCm39)	M105I	probably damaging	Het
Rnf150	T	C	8: 83,716,991 (GRCm39)	V166A	possibly damaging	Het
Rps6kc1	C	A	1: 190,541,160 (GRCm39)	R381L	probably damaging	Het
Rspo2	C	T	15: 43,033,216 (GRCm39)	R2H	probably benign	Het
Septin8	A	G	11: 53,425,416 (GRCm39)	D103G	probably damaging	Het
Sirt4	A	G	5: 115,618,508 (GRCm39)	W189R	probably damaging	Het
Slco6d1	T	C	1: 98,350,979 (GRCm39)	V110A	possibly damaging	Het
Sncaip	C	A	18: 53,040,271 (GRCm39)	Q822K	possibly damaging	Het
Spg11	A	C	2: 121,890,277 (GRCm39)	F2070V	probably damaging	Het
Sptb	A	T	12: 76,669,971 (GRCm39)	Y452*	probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Tead1	C	A	7: 112,441,073 (GRCm39)		probably null	Het
Tmem156	G	T	5: 65,248,790 (GRCm39)		probably benign	Het
Tmem169	A	G	1: 72,337,311 (GRCm39)	D82G	probably benign	Het
Tmem260	A	G	14: 48,709,930 (GRCm39)	E51G	probably damaging	Het
Trim36	G	T	18: 46,305,536 (GRCm39)	N470K	probably benign	Het
Trps1	T	A	15: 50,685,692 (GRCm39)	T158S	probably benign	Het
Ube2c	A	G	2: 164,614,482 (GRCm39)	*180W	probably null	Het
Ube2i	T	C	17: 25,484,121 (GRCm39)	D45G	probably benign	Het
Uggt2	A	C	14: 119,250,933 (GRCm39)	L1188R	probably damaging	Het
Uroc1	T	C	6: 90,340,135 (GRCm39)	I680T	probably damaging	Het
Vmn2r2	T	A	3: 64,044,883 (GRCm39)	M88L	probably damaging	Het
Zfp248	G	A	6: 118,406,807 (GRCm39)	R261C	possibly damaging	Het
Zfp418	G	T	7: 7,185,846 (GRCm39)	R603L	possibly damaging	Het
Zmpste24	T	A	4: 120,918,251 (GRCm39)	Y457F	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
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'- GTTCCACCTTGGTAGGCAAAAC -3'
(R):5'- AGCGTGTGTCCTTGGAACAG -3'

Sequencing Primer
(F):5'- CAAGCTATAGGGACAGAGCTC -3'
(R):5'- TGTCCTTGGAACAGCAGCTC -3'

Posted On

2016-02-04