Mutagenetix > Incidental Mutation

Incidental Mutation 'R2299:Ptpn23'

245269

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

040298-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2299 (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 110221581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 173 (I173T)

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: I173T

PolyPhen 2 Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: I173T

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

Meta Mutation Damage Score

0.2122

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (37/37)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,971,845 (GRCm39)	N68S	possibly damaging	Het
5031439G07Rik	A	C	15: 84,837,486 (GRCm39)	F276V	possibly damaging	Het
Abca12	C	T	1: 71,297,381 (GRCm39)	V2370I	probably damaging	Het
Acsl3	T	G	1: 78,676,827 (GRCm39)	C469W	probably damaging	Het
Adgrg5	A	T	8: 95,665,204 (GRCm39)	I372F	possibly damaging	Het
Ankrd42	A	G	7: 92,239,462 (GRCm39)	I442T	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bmpr1b	C	A	3: 141,550,963 (GRCm39)	R376L	probably damaging	Het
C1qtnf6	T	A	15: 78,409,542 (GRCm39)	T102S	probably benign	Het
Chordc1	T	C	9: 18,213,404 (GRCm39)	L85P	probably damaging	Het
Clec2j	T	A	6: 128,632,199 (GRCm39)		noncoding transcript	Het
Copa	T	C	1: 171,949,292 (GRCm39)	I1223T	probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyfip2	T	A	11: 46,176,958 (GRCm39)	E74V	probably benign	Het
Dsg1a	A	T	18: 20,473,207 (GRCm39)	D760V	probably damaging	Het
Folr1	A	G	7: 101,513,199 (GRCm39)	L32P	probably damaging	Het
Galnt13	A	T	2: 54,950,595 (GRCm39)	R425S	possibly damaging	Het
Gm4559	A	T	7: 141,827,572 (GRCm39)	C177S	unknown	Het
H2bc9	A	G	13: 23,727,354 (GRCm39)	S57P	probably damaging	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Kansl1l	T	C	1: 66,812,636 (GRCm39)	D459G	probably damaging	Het
Limd1	A	T	9: 123,345,942 (GRCm39)	K574*	probably null	Het
Mmrn1	A	G	6: 60,953,425 (GRCm39)	K569E	probably damaging	Het
Or51f1d	T	C	7: 102,700,789 (GRCm39)	W95R	probably damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Ppwd1	T	C	13: 104,356,571 (GRCm39)	M315V	probably benign	Het
Prss21	A	G	17: 24,088,563 (GRCm39)	E176G	probably benign	Het
Rit1	T	A	3: 88,633,377 (GRCm39)		probably null	Het
Rnf14	C	T	18: 38,441,138 (GRCm39)	A176V	probably benign	Het
Sema5a	T	A	15: 32,562,922 (GRCm39)	V311E	possibly damaging	Het
Slc28a2	C	T	2: 122,272,259 (GRCm39)	Q34*	probably null	Het
Spire1	A	C	18: 67,663,493 (GRCm39)	L36R	probably damaging	Het
Usp33	T	A	3: 152,080,258 (GRCm39)	V463E	probably damaging	Het
Vcpip1	A	G	1: 9,815,944 (GRCm39)	L813S	possibly damaging	Het
Vmn1r174	A	T	7: 23,453,429 (GRCm39)	I32F	probably benign	Het
Zbtb24	G	A	10: 41,340,577 (GRCm39)	V536M	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
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'- GTCCCTTACTACAGGCACATGG -3'
(R):5'- TATGGACAAGCGGGTGTCTG -3'

Sequencing Primer
(F):5'- CCCATGATCTAGCTGGAACTG -3'
(R):5'- TGAGGCTTGGGGACAGC -3'

Posted On

2014-10-30