Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Ptpn23'

545456

Institutional Source

Beutler Lab

Gene Symbol

Ptpn23

Ensembl Gene

ENSMUSG00000036057

Gene Name

protein tyrosine phosphatase, non-receptor type 23

Synonyms

PTP-TD14

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110385082-110408213 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 110385816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 85 (K85Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040021] [ENSMUST00000098350]

AlphaFold

Q6PB44

Predicted Effect

probably benign
Transcript: ENSMUST00000040021
AA Change: K1533Q

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000039580
Gene: ENSMUSG00000036057
AA Change: K1533Q

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

possibly damaging
Transcript: ENSMUST00000200531
AA Change: K85Q

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Cdh11	T	C	8: 102,634,321	D795G	possibly damaging	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	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
R1769:Ptpn23	UTSW	9	110391678	missense	possibly damaging	0.89
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
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'- ATGCTGAGCTTGGCAATGGTAG -3'
(R):5'- GCAGAGGAAACACATGCTGC -3'

Sequencing Primer
(F):5'- CTTGGCAATGGTAGCCTGAATG -3'
(R):5'- CACATGCTGCAGGAAAAAGTG -3'

Posted On

2019-05-13