Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Ptpn23'

508772

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

044407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6296 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110385082-110408213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110393826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 54 (N54K)

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: N54K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: N54K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,195,754 (GRCm38)	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100 (GRCm38)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,303,710 (GRCm38)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 49,960,847 (GRCm38)	P1120S	probably benign	Het
Adm	A	G	7: 110,628,354 (GRCm38)	T26A	probably benign	Het
Ahnak	T	G	19: 9,003,305 (GRCm38)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,318,221 (GRCm38)	V358I	probably benign	Het
Ankar	T	G	1: 72,643,258 (GRCm38)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,906,892 (GRCm38)	K269N	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714 (GRCm38)	T1249S	probably benign	Het
Cacna1c	T	C	6: 118,598,723 (GRCm38)	E1927G	possibly damaging	Het
Cacna1h	G	A	17: 25,383,079 (GRCm38)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,487,508 (GRCm38)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369 (GRCm38)	V132I	probably benign	Het
Cfap54	T	C	10: 93,066,846 (GRCm38)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,428,347 (GRCm38)	S60P	probably damaging	Het
Col6a2	T	C	10: 76,611,049 (GRCm38)	N342D	probably damaging	Het
Cyp2c29	T	G	19: 39,330,261 (GRCm38)	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,150,729 (GRCm38)		probably null	Het
Dgke	C	T	11: 89,040,749 (GRCm38)	V560I	probably benign	Het
Dusp16	C	A	6: 134,720,493 (GRCm38)		probably null	Het
Enpp4	G	T	17: 44,102,480 (GRCm38)	N54K	probably benign	Het
Epn1	G	A	7: 5,090,123 (GRCm38)	A145T	probably damaging	Het
Erc2	A	T	14: 28,080,155 (GRCm38)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403 (GRCm38)	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145 (GRCm38)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,186,165 (GRCm38)	S21P	probably benign	Het
Gm6358	T	C	16: 89,141,082 (GRCm38)	S70P	unknown	Het
Grip1	C	T	10: 120,075,464 (GRCm38)	Q696*	probably null	Het
Haus5	C	T	7: 30,658,976 (GRCm38)	W298*	probably null	Het
Hsfy2	T	A	1: 56,637,192 (GRCm38)	H62L	probably benign	Het
Ighm	T	C	12: 113,421,567 (GRCm38)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,235,799 (GRCm38)		noncoding transcript	Het
Inava	C	T	1: 136,221,071 (GRCm38)		probably null	Het
Irx1	A	C	13: 71,959,668 (GRCm38)	S298R	probably damaging	Het
Jarid2	T	A	13: 44,903,063 (GRCm38)	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,435,316 (GRCm38)	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,665,419 (GRCm38)	R161*	probably null	Het
Lipo3	T	C	19: 33,780,337 (GRCm38)	D244G	probably benign	Het
Lmo2	T	G	2: 103,970,601 (GRCm38)	V39G	possibly damaging	Het
Lrch2	C	T	X: 147,480,557 (GRCm38)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,432,875 (GRCm38)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm38)		probably null	Het
Nek1	C	T	8: 61,072,309 (GRCm38)	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895 (GRCm38)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,153,155 (GRCm38)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,144,596 (GRCm38)	R311S	probably benign	Het
Or4a76	G	A	2: 89,630,631 (GRCm38)	T89I	probably damaging	Het
Or5ac25	T	C	16: 59,361,406 (GRCm38)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,819,503 (GRCm38)		probably null	Het
Pbx1	T	C	1: 168,183,615 (GRCm38)	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,262,953 (GRCm38)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,226,266 (GRCm38)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm38)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,711,804 (GRCm38)	I201T	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829 (GRCm38)		probably null	Het
Rassf9	T	A	10: 102,545,753 (GRCm38)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,268,987 (GRCm38)	N173S	probably benign	Het
Rhbdl1	A	G	17: 25,834,969 (GRCm38)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,867,821 (GRCm38)	S389P	probably benign	Het
Rxfp1	A	C	3: 79,667,848 (GRCm38)	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,093,880 (GRCm38)	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793 (GRCm38)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,145,489 (GRCm38)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,728,464 (GRCm38)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,742,683 (GRCm38)	D441G	probably benign	Het
Spink5	T	C	18: 44,014,757 (GRCm38)	S857P	probably damaging	Het
Stard13	A	T	5: 151,062,673 (GRCm38)	S339R	probably damaging	Het
Stk35	T	A	2: 129,810,888 (GRCm38)	Y436*	probably null	Het
Supt6	C	T	11: 78,226,059 (GRCm38)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,996,935 (GRCm38)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,361,611 (GRCm38)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,223,902 (GRCm38)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,733,576 (GRCm38)	L1985R	unknown	Het
Ttn	G	A	2: 76,749,329 (GRCm38)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm38)	Q215K	probably benign	Het
Unkl	T	C	17: 25,231,865 (GRCm38)	*232R	probably null	Het
Wnk4	A	T	11: 101,273,998 (GRCm38)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,216,570 (GRCm38)	T466A	probably benign	Het
Zfp451	T	A	1: 33,769,817 (GRCm38)	K988*	probably null	Het
Zfp503	G	C	14: 21,985,800 (GRCm38)	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103 (GRCm38)	F557Y	possibly 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
R4937:Ptpn23	UTSW	9	110,392,738 (GRCm38)	missense	probably benign	0.09
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
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'- TGTCCAAGTTCACACCTTCTAAG -3'
(R):5'- GTTTCAGATGAAGAACTTCGGATC -3'

Sequencing Primer
(F):5'- AAGTTCTCATCTGCCCAGC -3'
(R):5'- TCAAGCTGGAGCAATGTCTC -3'

Posted On

2018-04-02