Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Ptpn23'

194706

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

039800-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110385082-110408213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 110391678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 255 (H255Y)

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: H255Y

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: H255Y

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

0.3366

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	A	G	6: 50,591,821		probably benign	Het
A430033K04Rik	A	G	5: 138,646,257	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325	K1119N	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Abcc9	T	C	6: 142,627,468		probably benign	Het
Akap3	A	G	6: 126,865,846	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,918,740	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ascc3	T	C	10: 50,700,490	V847A	probably damaging	Het
Best3	A	G	10: 117,023,978	N381S	probably benign	Het
Blm	A	T	7: 80,513,370	S78T	probably benign	Het
Bmpr2	T	A	1: 59,868,361	L871Q	probably damaging	Het
Car13	T	A	3: 14,650,735	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 50,792,111	M165V	probably benign	Het
Cd4	A	T	6: 124,866,655	M431K	possibly damaging	Het
Cdh7	C	T	1: 110,052,876	T178I	probably damaging	Het
Ceacam3	C	T	7: 17,158,376	T348I	probably damaging	Het
Cfap54	C	T	10: 92,904,263		probably null	Het
Clcn6	A	T	4: 148,014,301		probably null	Het
Csf3	A	G	11: 98,702,420	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,704,109		probably benign	Het
Cyp2c69	A	G	19: 39,876,371	I221T	probably benign	Het
Dgcr2	T	C	16: 17,857,251		probably benign	Het
Dhcr7	T	C	7: 143,847,513	F474S	probably damaging	Het
Dnah1	T	C	14: 31,310,882	I399V	probably null	Het
Efcab14	T	A	4: 115,752,991	L183Q	probably damaging	Het
Elmsan1	G	A	12: 84,158,350		probably benign	Het
Evx2	A	G	2: 74,659,157	V88A	probably benign	Het
Exph5	A	G	9: 53,373,809	N730S	probably benign	Het
Farsb	T	A	1: 78,466,983	K196I	probably benign	Het
Fbln7	C	T	2: 128,893,762		probably benign	Het
Fhdc1	A	G	3: 84,448,778	F453S	probably damaging	Het
Gast	T	A	11: 100,336,858	W89R	probably damaging	Het
Gata2	A	G	6: 88,205,255	S402G	probably benign	Het
Gin1	T	A	1: 97,792,437	S386T	probably benign	Het
Golgb1	A	G	16: 36,916,001	E1870G	probably damaging	Het
Hivep3	T	A	4: 120,097,571	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,928,760	R486*	probably null	Het
Ifi209	G	A	1: 173,641,162	S186N	probably benign	Het
Ifih1	C	T	2: 62,606,394	A562T	probably damaging	Het
Itch	T	C	2: 155,172,561	L106S	probably damaging	Het
Itga4	T	A	2: 79,315,706		probably null	Het
Kdm4c	A	G	4: 74,280,997	S141G	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klra3	T	C	6: 130,330,263		probably null	Het
Lama2	A	T	10: 27,208,406	S923T	probably damaging	Het
Lama2	G	C	10: 27,208,407	F922L	probably benign	Het
Llgl1	G	A	11: 60,707,047	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,631,681	*301W	probably null	Het
Map1lc3b	C	T	8: 121,593,487		probably benign	Het
Mbd2	A	G	18: 70,616,619	I302V	probably benign	Het
Med27	A	G	2: 29,500,295	Y78C	probably damaging	Het
Mei1	C	T	15: 82,112,570		probably null	Het
Miga1	T	C	3: 152,287,554	E346G	probably damaging	Het
Myef2	A	G	2: 125,115,443	S131P	probably damaging	Het
Myocd	T	C	11: 65,178,701	H899R	probably benign	Het
Ncam1	A	G	9: 49,545,256		probably benign	Het
Ngf	T	A	3: 102,520,197	N87K	possibly damaging	Het
Nol10	T	A	12: 17,416,708		probably benign	Het
Nrip2	A	G	6: 128,408,268	I221V	probably benign	Het
Nup205	G	A	6: 35,205,431	G777D	probably damaging	Het
Olfr1446	A	G	19: 12,889,683	V298A	probably damaging	Het
Olfr199	A	G	16: 59,215,981	F211L	probably benign	Het
Olfr802	T	A	10: 129,682,212	T176S	probably benign	Het
Olfr855	A	T	9: 19,585,386	Q283L	probably damaging	Het
Olfr974	G	T	9: 39,942,955	D232Y	probably benign	Het
Oxt	A	T	2: 130,576,300	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,695,930	S2248P	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pkp2	T	C	16: 16,262,697	S616P	probably damaging	Het
Plch2	T	C	4: 155,000,083	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,154,159	N540D	probably benign	Het
Rad21	T	C	15: 51,972,307	N237D	probably benign	Het
Ryr3	A	C	2: 112,751,768		probably null	Het
Sgk1	C	A	10: 21,997,108		probably benign	Het
Slc1a5	G	T	7: 16,797,539	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,919,464	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,919,466	Y478*	probably null	Het
Slc9a3	A	T	13: 74,163,071	M562L	probably benign	Het
Thsd7a	G	A	6: 12,555,715	R57*	probably null	Het
Tiam1	T	C	16: 89,860,279	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,724,366	S47P	probably damaging	Het
Trim39	C	T	17: 36,263,940	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,035,073	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,965,721	T3304A	probably benign	Het
Wdr35	A	C	12: 9,012,728	D638A	probably damaging	Het
Wwc1	G	T	11: 35,861,844	P797T	probably benign	Het
Zan	T	A	5: 137,464,518	T800S	unknown	Het
Zbbx	A	G	3: 75,083,619		probably benign	Het
Zufsp	T	C	10: 33,935,176	M291V	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
IGL01757:Ptpn23	APN	9	110391636	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTTACAAACAAGGGCTGCAAGGTG -3'
(R):5'- GTCCATGTTGGACAACCGGAAGAG -3'

Sequencing Primer
(F):5'- CTGCAAGGTGGTGATGGC -3'
(R):5'- GCCTTGGAAAACCCTGATACTG -3'

Posted On

2014-05-23