Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01373:Ptpn22'

84073

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn22

Ensembl Gene

ENSMUSG00000027843

Gene Name

protein tyrosine phosphatase, non-receptor type 22 (lymphoid)

Synonyms

70zpep, Ptpn8

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.439) question?

Stock #

IGL01373

Quality Score

Status

Chromosome

Chromosomal Location

103859795-103912247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103886204 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 557 (D557V)

Ref Sequence

ENSEMBL: ENSMUSP00000122307 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000146071]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029433
AA Change: D557V

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: D557V

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
PTPc	23	291	3.32e-123	SMART
Blast:PTPc	305	502	2e-65	BLAST
PDB:1JEG\|B	605	629	2e-8	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134373

Predicted Effect

probably damaging
Transcript: ENSMUST00000146071
AA Change: D557V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: D557V

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
PTPc	23	291	3.32e-123	SMART
Blast:PTPc	305	502	9e-66	BLAST
internal_repeat_1	567	629	1.92e-7	PROSPERO
internal_repeat_1	651	705	1.92e-7	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198701

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice display antigen dependent increases in T cell proliferation and cytokine production, enlarged spleens and lymph nodes, increased spontaneous germinal center formation, increased B cell numbers, and increased serum IgG and IgE levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	T	7: 119,711,419	R510*	probably null	Het
Adamts12	A	T	15: 11,310,730	E1024D	probably benign	Het
Aff2	T	A	X: 69,867,729	D1239E	possibly damaging	Het
Agps	T	C	2: 75,852,784	V151A	probably benign	Het
Cables1	A	T	18: 11,888,764	R276S	probably damaging	Het
Cep72	A	G	13: 74,059,459	S64P	probably damaging	Het
Cmah	A	T	13: 24,430,549	D159V	probably damaging	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpxm1	T	C	2: 130,394,135	E369G	probably damaging	Het
Dnah6	A	G	6: 73,074,748	L3021P	probably benign	Het
Esyt1	T	C	10: 128,518,941	E530G	possibly damaging	Het
Fancd2	A	G	6: 113,553,752	I449V	probably benign	Het
Fbxw24	C	T	9: 109,623,633	G98D	probably damaging	Het
Folh1	T	C	7: 86,746,142	I361V	probably benign	Het
Gm12666	A	G	4: 92,191,625	V42A	probably damaging	Het
Gpr19	T	A	6: 134,870,321	H41L	possibly damaging	Het
Kcnq4	A	G	4: 120,717,032	V143A	probably damaging	Het
Lmcd1	A	G	6: 112,310,625	I91V	probably benign	Het
Lpin3	G	T	2: 160,903,729	D651Y	probably damaging	Het
Ms4a6b	A	T	19: 11,529,507	H220L	possibly damaging	Het
Mxd4	G	A	5: 34,184,346		probably benign	Het
Nxnl2	T	C	13: 51,171,452	F44L	probably damaging	Het
Olfr698	T	C	7: 106,752,446		probably benign	Het
Olfr744	T	A	14: 50,618,612	I130N	probably damaging	Het
Pcdhb20	A	T	18: 37,506,568	R716W	probably benign	Het
Pcx	T	A	19: 4,620,235		probably null	Het
Plekhf1	T	C	7: 38,221,797	T116A	probably benign	Het
Psmb2	G	T	4: 126,687,092	R93L	probably damaging	Het
Pstpip2	T	A	18: 77,835,216	L42*	probably null	Het
Rbbp5	G	A	1: 132,492,601	V191I	probably benign	Het
Rgs1	T	A	1: 144,245,378	D185V	probably damaging	Het
Selenoh	A	G	2: 84,670,594		probably benign	Het
Slc6a5	C	T	7: 49,917,733	P312S	probably benign	Het
Snapc1	T	A	12: 73,964,680	M40K	probably benign	Het
Sptbn2	T	G	19: 4,745,972	Y1726*	probably null	Het
Syne2	T	C	12: 75,987,107	I3710T	probably damaging	Het
Tdrd9	G	A	12: 112,040,434	V911M	probably damaging	Het
Tex9	A	T	9: 72,480,754	D134E	possibly damaging	Het
Ttc41	G	T	10: 86,775,957	C1063F	possibly damaging	Het
Usp38	C	A	8: 80,990,018	A496S	possibly damaging	Het
Vmn2r13	T	A	5: 109,156,702	Y621F	probably damaging	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het

Other mutations in Ptpn22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Ptpn22	APN	3	103903374	missense	probably benign	0.01
IGL01943:Ptpn22	APN	3	103886336	missense	probably benign	0.02
IGL02092:Ptpn22	APN	3	103877321	missense	probably damaging	1.00
IGL02431:Ptpn22	APN	3	103903397	missense	probably benign	0.01
IGL02732:Ptpn22	APN	3	103886033	missense	probably damaging	0.98
IGL02738:Ptpn22	APN	3	103874066	splice site	probably benign
IGL03406:Ptpn22	APN	3	103912016	missense	probably benign	0.14
R0490:Ptpn22	UTSW	3	103886179	missense	probably damaging	1.00
R0494:Ptpn22	UTSW	3	103860455	missense	probably damaging	1.00
R0626:Ptpn22	UTSW	3	103860405	start codon destroyed	probably null	1.00
R0743:Ptpn22	UTSW	3	103902171	missense	probably damaging	1.00
R1441:Ptpn22	UTSW	3	103874247	missense	probably damaging	1.00
R1610:Ptpn22	UTSW	3	103902196	splice site	probably null
R1698:Ptpn22	UTSW	3	103885798	missense	probably benign	0.20
R1785:Ptpn22	UTSW	3	103874052	missense	probably damaging	0.99
R1786:Ptpn22	UTSW	3	103874052	missense	probably damaging	0.99
R1919:Ptpn22	UTSW	3	103876738	critical splice donor site	probably null
R2045:Ptpn22	UTSW	3	103874021	missense	possibly damaging	0.61
R3977:Ptpn22	UTSW	3	103873641	splice site	probably benign
R4176:Ptpn22	UTSW	3	103886245	missense	probably benign	0.00
R4478:Ptpn22	UTSW	3	103902064	intron	probably benign
R5093:Ptpn22	UTSW	3	103882102	missense	probably benign	0.39
R5579:Ptpn22	UTSW	3	103882139	splice site	probably null
R6022:Ptpn22	UTSW	3	103886105	missense	probably benign	0.00
R6110:Ptpn22	UTSW	3	103912015	missense	probably damaging	0.96
R6387:Ptpn22	UTSW	3	103885386	missense	probably benign	0.18
R7335:Ptpn22	UTSW	3	103886019	missense	probably damaging	0.97
R7516:Ptpn22	UTSW	3	103885538	missense	probably benign	0.16
R7523:Ptpn22	UTSW	3	103912015	missense	probably damaging	0.96
R7583:Ptpn22	UTSW	3	103902114	missense	probably benign	0.11
Z1177:Ptpn22	UTSW	3	103885700	missense	probably benign	0.35

Posted On

2013-11-11