Mutagenetix > Incidental Mutation

Incidental Mutation 'R4937:Ptpn23'

380488

Institutional Source

Beutler Lab

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 #

R4937 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

110385082-110408213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110392738 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 127 (M127V)

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 benign
Transcript: ENSMUST00000040021
AA Change: M127V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: M127V

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.3%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,736,201 (GRCm38)	F597S	probably benign	Het
4933406M09Rik	T	A	1: 134,389,976 (GRCm38)	M162K	probably benign	Het
Aasdh	C	A	5: 76,888,654 (GRCm38)	E347*	probably null	Het
Abca16	G	T	7: 120,527,086 (GRCm38)	C1155F	probably damaging	Het
Adam26a	T	C	8: 43,568,881 (GRCm38)	D524G	probably damaging	Het
Adamts20	G	C	15: 94,379,775 (GRCm38)	H269D	probably benign	Het
Akap9	T	A	5: 4,050,145 (GRCm38)		probably null	Het
Akt3	T	C	1: 177,050,127 (GRCm38)	I358M	possibly damaging	Het
Aldh9a1	G	T	1: 167,361,807 (GRCm38)	A375S	probably damaging	Het
Alg2	A	G	4: 47,473,974 (GRCm38)	S105P	probably benign	Het
Amph	A	G	13: 19,104,345 (GRCm38)	T335A	probably damaging	Het
Ank2	C	T	3: 126,962,401 (GRCm38)	V1056M	probably damaging	Het
Apoh	A	G	11: 108,407,378 (GRCm38)	D168G	probably benign	Het
Arfgef3	C	T	10: 18,589,706 (GRCm38)	A2130T	probably damaging	Het
Arhgap30	A	G	1: 171,403,329 (GRCm38)	D218G	probably benign	Het
Ascc3	C	T	10: 50,823,798 (GRCm38)	P1906S	probably damaging	Het
Atp11b	T	G	3: 35,807,008 (GRCm38)		probably null	Het
B4galnt2	A	G	11: 95,868,429 (GRCm38)	V343A	probably damaging	Het
Barhl1	T	C	2: 28,909,773 (GRCm38)	Y280C	probably damaging	Het
Bcar1	A	T	8: 111,721,037 (GRCm38)	Y103N	probably damaging	Het
Bid	A	G	6: 120,895,746 (GRCm38)	I150T	probably benign	Het
Ccdc171	T	C	4: 83,549,639 (GRCm38)	S74P	probably damaging	Het
Ccni	A	T	5: 93,188,254 (GRCm38)		probably null	Het
Cct8l1	A	G	5: 25,516,893 (GRCm38)	E202G	probably benign	Het
Cd200r3	A	G	16: 44,954,259 (GRCm38)	K212E	probably benign	Het
Cdh19	A	G	1: 110,889,964 (GRCm38)	S683P	probably damaging	Het
Ces2b	A	T	8: 104,832,781 (GRCm38)	H93L	probably benign	Het
Clec4a1	G	A	6: 122,930,695 (GRCm38)	C114Y	probably damaging	Het
Dcc	G	T	18: 71,542,249 (GRCm38)	S636*	probably null	Het
Dcdc2c	T	C	12: 28,530,473 (GRCm38)	D187G	possibly damaging	Het
Dgkb	G	T	12: 38,114,658 (GRCm38)	E150*	probably null	Het
Dhx30	A	G	9: 110,085,961 (GRCm38)	L884P	probably damaging	Het
Dmwd	T	G	7: 19,081,303 (GRCm38)		probably null	Het
Dnah17	T	A	11: 118,042,154 (GRCm38)	N3593Y	probably damaging	Het
Dnm2	G	A	9: 21,481,337 (GRCm38)	S447N	probably benign	Het
Elk4	G	A	1: 132,017,681 (GRCm38)	G99D	probably damaging	Het
Entpd1	A	T	19: 40,739,521 (GRCm38)		probably benign	Het
Fam114a1	T	A	5: 64,979,727 (GRCm38)	D4E	probably damaging	Het
Fam160b1	T	C	19: 57,378,637 (GRCm38)	V204A	probably benign	Het
Fam166b	T	A	4: 43,427,514 (GRCm38)	Q270L	possibly damaging	Het
Fbln2	A	G	6: 91,264,699 (GRCm38)	D754G	probably damaging	Het
Foxred2	T	C	15: 77,955,835 (GRCm38)	N85S	probably damaging	Het
Fut9	A	G	4: 25,799,591 (GRCm38)		probably benign	Het
Gm13023	T	C	4: 143,793,837 (GRCm38)	V53A	possibly damaging	Het
Gm13762	T	A	2: 88,973,490 (GRCm38)	I134F	probably damaging	Het
Gm14124	C	T	2: 150,268,760 (GRCm38)	H457Y	unknown	Het
Gm1818	G	A	12: 48,559,824 (GRCm38)		noncoding transcript	Het
Gm4894	C	A	9: 49,278,700 (GRCm38)	Q92K	unknown	Het
Gpx2	T	C	12: 76,792,800 (GRCm38)	I141M	probably benign	Het
Gusb	T	C	5: 129,995,485 (GRCm38)	T476A	probably damaging	Het
Hmmr	G	A	11: 40,721,840 (GRCm38)	T180I	possibly damaging	Het
Itgbl1	T	C	14: 123,973,368 (GRCm38)	Y493H	probably benign	Het
Klhdc9	G	T	1: 171,360,383 (GRCm38)	C93*	probably null	Het
Lpar3	A	G	3: 146,284,751 (GRCm38)	K275E	probably damaging	Het
Lrp1b	A	G	2: 40,802,885 (GRCm38)		probably null	Het
Lrrc63	C	T	14: 75,084,949 (GRCm38)	G572S	probably damaging	Het
Mapk11	A	T	15: 89,146,482 (GRCm38)	D98E	probably benign	Het
Net1	G	A	13: 3,884,905 (GRCm38)	R374W	probably damaging	Het
Nlrp4g	T	A	9: 124,354,005 (GRCm38)		noncoding transcript	Het
Nrap	T	A	19: 56,347,220 (GRCm38)	Y923F	probably damaging	Het
Olfr53	T	A	7: 140,652,621 (GRCm38)	M214K	probably benign	Het
Olfr811	A	T	10: 129,802,063 (GRCm38)	V154E	probably benign	Het
Plxnc1	A	G	10: 94,841,473 (GRCm38)	V964A	probably damaging	Het
Pmfbp1	A	G	8: 109,535,866 (GRCm38)	I731V	probably benign	Het
Polq	T	A	16: 37,027,912 (GRCm38)	S294T	probably benign	Het
Pomgnt2	T	C	9: 121,982,554 (GRCm38)	D387G	probably benign	Het
Prmt2	G	A	10: 76,221,008 (GRCm38)	T227I	probably damaging	Het
Psmd1	T	A	1: 86,083,225 (GRCm38)	F341I	probably damaging	Het
Ptprc	A	G	1: 138,089,500 (GRCm38)	F483L	probably damaging	Het
Rab35	A	C	5: 115,640,088 (GRCm38)	I38L	probably damaging	Het
Rapgef6	A	G	11: 54,657,317 (GRCm38)	T486A	probably damaging	Het
Rgl3	A	T	9: 21,987,708 (GRCm38)	C68*	probably null	Het
Rilpl1	T	C	5: 124,515,531 (GRCm38)	E189G	possibly damaging	Het
Rnf217	T	C	10: 31,517,524 (GRCm38)	I354V	probably benign	Het
Rspo3	T	C	10: 29,506,528 (GRCm38)	D50G	probably damaging	Het
Sbno1	A	G	5: 124,374,609 (GRCm38)	S1366P	possibly damaging	Het
Sema3c	A	G	5: 17,694,686 (GRCm38)	D392G	probably benign	Het
Serpinb9e	A	T	13: 33,252,952 (GRCm38)	Y85F	probably benign	Het
Shprh	C	T	10: 11,157,119 (GRCm38)	T283I	probably benign	Het
Sipa1l1	T	C	12: 82,341,329 (GRCm38)	S110P	probably benign	Het
Slc16a12	T	A	19: 34,675,243 (GRCm38)	I168F	probably damaging	Het
Slc23a3	A	G	1: 75,132,624 (GRCm38)	S221P	probably damaging	Het
Slc35b3	A	T	13: 38,932,911 (GRCm38)	I366K	possibly damaging	Het
Slc44a5	T	C	3: 154,243,615 (GRCm38)		probably null	Het
Slc5a12	A	T	2: 110,620,408 (GRCm38)	D316V	probably damaging	Het
Ssr3	A	G	3: 65,392,453 (GRCm38)	S29P	probably damaging	Het
Taf2	G	A	15: 55,027,223 (GRCm38)	Q1055*	probably null	Het
Them6	A	T	15: 74,721,518 (GRCm38)	D75V	probably damaging	Het
Tmem159	T	C	7: 120,116,312 (GRCm38)	S120P	probably damaging	Het
Tom1l2	A	G	11: 60,258,918 (GRCm38)	S239P	probably damaging	Het
Tspear	A	G	10: 77,875,043 (GRCm38)	T500A	probably damaging	Het
Tubgcp6	G	A	15: 89,101,549 (GRCm38)	A1487V	probably damaging	Het
Uba7	G	A	9: 107,978,991 (GRCm38)	V522I	possibly damaging	Het
Virma	C	A	4: 11,521,147 (GRCm38)	C901*	probably null	Het
Vmn1r172	A	T	7: 23,659,887 (GRCm38)	I66F	possibly damaging	Het
Vmn2r82	A	T	10: 79,379,176 (GRCm38)	Y331F	probably benign	Het
Wdr55	G	A	18: 36,762,398 (GRCm38)	V143I	probably benign	Het
Zbtb49	A	T	5: 38,213,963 (GRCm38)	D191E	possibly damaging	Het
Zfhx4	A	G	3: 5,242,011 (GRCm38)	H99R	probably damaging	Het
Zfp560	C	T	9: 20,347,967 (GRCm38)	C533Y	probably damaging	Het
Zfp646	C	T	7: 127,879,182 (GRCm38)	A177V	probably benign	Het
Zfp653	C	T	9: 22,055,778 (GRCm38)	E604K	probably damaging	Het

Other mutations in Ptpn23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Ptpn23	APN	9	110,388,106 (GRCm38)	missense	probably benign	0.00
IGL01462:Ptpn23	APN	9	110,408,107 (GRCm38)	missense	probably benign	0.33
IGL01666:Ptpn23	APN	9	110,386,545 (GRCm38)	missense	possibly damaging	0.95
IGL01757:Ptpn23	APN	9	110,391,636 (GRCm38)	missense	probably damaging	1.00
IGL02402:Ptpn23	APN	9	110,393,713 (GRCm38)	missense	possibly damaging	0.81
IGL02891:Ptpn23	APN	9	110,388,020 (GRCm38)	nonsense	probably null
peony	UTSW	9	110,386,507 (GRCm38)	missense	probably damaging	0.97
FR4449:Ptpn23	UTSW	9	110,387,633 (GRCm38)	missense	probably benign	0.15
FR4548:Ptpn23	UTSW	9	110,387,633 (GRCm38)	missense	probably benign	0.15
FR4737:Ptpn23	UTSW	9	110,387,633 (GRCm38)	missense	probably benign	0.15
FR4976:Ptpn23	UTSW	9	110,387,633 (GRCm38)	missense	probably benign	0.15
R0111:Ptpn23	UTSW	9	110,385,623 (GRCm38)	missense	probably damaging	0.97
R0377:Ptpn23	UTSW	9	110,388,132 (GRCm38)	missense	possibly damaging	0.73
R0432:Ptpn23	UTSW	9	110,389,010 (GRCm38)	critical splice donor site	probably null
R0456:Ptpn23	UTSW	9	110,389,793 (GRCm38)	splice site	probably null
R0457:Ptpn23	UTSW	9	110,386,293 (GRCm38)	missense	possibly damaging	0.95
R0988:Ptpn23	UTSW	9	110,388,777 (GRCm38)	missense	probably benign	0.02
R1072:Ptpn23	UTSW	9	110,386,595 (GRCm38)	missense	probably benign	0.29
R1769:Ptpn23	UTSW	9	110,391,678 (GRCm38)	missense	possibly damaging	0.89
R1859:Ptpn23	UTSW	9	110,388,870 (GRCm38)	missense	possibly damaging	0.92
R1891:Ptpn23	UTSW	9	110,393,800 (GRCm38)	missense	possibly damaging	0.74
R1915:Ptpn23	UTSW	9	110,386,507 (GRCm38)	missense	probably damaging	0.97
R1954:Ptpn23	UTSW	9	110,386,325 (GRCm38)	missense	probably damaging	0.99
R2299:Ptpn23	UTSW	9	110,392,513 (GRCm38)	missense	possibly damaging	0.72
R2431:Ptpn23	UTSW	9	110,386,279 (GRCm38)	nonsense	probably null
R2445:Ptpn23	UTSW	9	110,387,632 (GRCm38)	missense	possibly damaging	0.79
R3014:Ptpn23	UTSW	9	110,389,695 (GRCm38)	missense	probably benign
R3820:Ptpn23	UTSW	9	110,389,794 (GRCm38)	unclassified	probably benign
R3904:Ptpn23	UTSW	9	110,389,245 (GRCm38)	missense	probably benign	0.11
R4441:Ptpn23	UTSW	9	110,392,725 (GRCm38)	missense	probably benign	0.01
R4464:Ptpn23	UTSW	9	110,386,813 (GRCm38)	missense	probably damaging	1.00
R4709:Ptpn23	UTSW	9	110,388,856 (GRCm38)	missense	possibly damaging	0.86
R4810:Ptpn23	UTSW	9	110,389,136 (GRCm38)	missense	possibly damaging	0.93
R5023:Ptpn23	UTSW	9	110,388,556 (GRCm38)	missense	probably benign	0.00
R5057:Ptpn23	UTSW	9	110,388,556 (GRCm38)	missense	probably benign	0.00
R5065:Ptpn23	UTSW	9	110,398,188 (GRCm38)	missense	possibly damaging	0.91
R5143:Ptpn23	UTSW	9	110,385,438 (GRCm38)	unclassified	probably benign
R5370:Ptpn23	UTSW	9	110,385,701 (GRCm38)	missense	possibly damaging	0.79
R5534:Ptpn23	UTSW	9	110,392,741 (GRCm38)	missense	possibly damaging	0.95
R5715:Ptpn23	UTSW	9	110,387,075 (GRCm38)	missense	probably damaging	1.00
R5914:Ptpn23	UTSW	9	110,385,443 (GRCm38)	unclassified	probably benign
R6122:Ptpn23	UTSW	9	110,387,825 (GRCm38)	unclassified	probably benign
R6155:Ptpn23	UTSW	9	110,387,781 (GRCm38)	unclassified	probably benign
R6156:Ptpn23	UTSW	9	110,387,781 (GRCm38)	unclassified	probably benign
R6296:Ptpn23	UTSW	9	110,393,826 (GRCm38)	missense	probably damaging	0.96
R6755:Ptpn23	UTSW	9	110,389,787 (GRCm38)	missense	probably damaging	0.98
R7018:Ptpn23	UTSW	9	110,385,816 (GRCm38)	missense	possibly damaging	0.89
R7126:Ptpn23	UTSW	9	110,388,744 (GRCm38)	missense	probably benign	0.00
R7181:Ptpn23	UTSW	9	110,385,257 (GRCm38)	missense	unknown
R7578:Ptpn23	UTSW	9	110,387,608 (GRCm38)	missense	probably benign	0.33
R7675:Ptpn23	UTSW	9	110,387,026 (GRCm38)	nonsense	probably null
R7776:Ptpn23	UTSW	9	110,386,300 (GRCm38)	missense	possibly damaging	0.89
R7797:Ptpn23	UTSW	9	110,393,807 (GRCm38)	missense	possibly damaging	0.86
R8071:Ptpn23	UTSW	9	110,388,200 (GRCm38)	missense	possibly damaging	0.93
R8071:Ptpn23	UTSW	9	110,388,199 (GRCm38)	missense	probably damaging	0.98
R8954:Ptpn23	UTSW	9	110,392,500 (GRCm38)	missense	probably damaging	1.00
R9063:Ptpn23	UTSW	9	110,389,625 (GRCm38)	missense	possibly damaging	0.85
R9208:Ptpn23	UTSW	9	110,408,033 (GRCm38)	critical splice donor site	probably null
R9380:Ptpn23	UTSW	9	110,392,513 (GRCm38)	missense	possibly damaging	0.72
R9404:Ptpn23	UTSW	9	110,386,957 (GRCm38)	missense
R9570:Ptpn23	UTSW	9	110,398,149 (GRCm38)	missense	probably damaging	0.96
R9649:Ptpn23	UTSW	9	110,386,158 (GRCm38)	critical splice acceptor site	probably null
X0062:Ptpn23	UTSW	9	110,387,707 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTGAGCGTAAGGATCTGGCG -3'
(R):5'- TTCCTCGGGAATCCTTGCAC -3'

Sequencing Primer
(F):5'- TAAGGATCTGGCGACTCATGTCC -3'
(R):5'- TCGGGAATCCTTGCACTGACC -3'

Posted On

2016-04-15