Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03406:Ptpn22'

421593

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

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

IGL03406

Quality Score

Status

Chromosome

Chromosomal Location

103859795-103912247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103912016 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 795 (N795K)

Ref Sequence

ENSEMBL: ENSMUSP00000029433 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000051139] [ENSMUST00000068879] [ENSMUST00000146071]

AlphaFold

P29352

PDB Structure

Solution structure of the SH3 domain from C-terminal Src Kinase complexed with a peptide from the tyrosine phosphatase PEP [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000029433
AA Change: N795K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: N795K

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

probably benign
Transcript: ENSMUST00000051139

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	84	109	N/A	INTRINSIC
low complexity region	136	151	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	466	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068879

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
low complexity region	49	64	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
low complexity region	131	156	N/A	INTRINSIC
low complexity region	183	198	N/A	INTRINSIC
low complexity region	252	261	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134373

Predicted Effect

probably benign
Transcript: ENSMUST00000146071

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843

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

probably benign
Transcript: ENSMUST00000151927

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	84	109	N/A	INTRINSIC
low complexity region	136	151	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012P22Rik	A	G	4: 144,423,844	Y56H	probably damaging	Het
A530016L24Rik	T	A	12: 112,496,883		probably null	Het
Adcy7	C	T	8: 88,318,319	R228*	probably null	Het
Cdcp1	T	C	9: 123,185,313	H132R	probably benign	Het
Cyp4a32	T	C	4: 115,602,303	I78T	probably benign	Het
Fap	A	T	2: 62,542,122		probably benign	Het
Gad1-ps	C	T	10: 99,444,779		noncoding transcript	Het
Gli3	T	C	13: 15,648,581	I296T	probably damaging	Het
H2-Q2	T	C	17: 35,342,825	V97A	probably benign	Het
Hr	T	A	14: 70,563,420		probably null	Het
Itgax	C	T	7: 128,149,198	T1133I	possibly damaging	Het
L3mbtl2	G	A	15: 81,681,993	R339H	probably damaging	Het
Mast4	T	C	13: 102,737,107	K1726E	possibly damaging	Het
Nlrc5	T	C	8: 94,476,855	Y528H	probably benign	Het
Nmnat3	G	A	9: 98,399,477	G44D	probably damaging	Het
Nol8	A	T	13: 49,661,568	D366V	probably damaging	Het
Olfr539	C	A	7: 140,667,511	L68M	probably damaging	Het
Pde4d	A	T	13: 109,954,591		probably benign	Het
Rabgap1l	A	T	1: 160,722,169	V289D	probably damaging	Het
Slc50a1	T	C	3: 89,270,101	D40G	possibly damaging	Het
Slco6b1	T	C	1: 96,947,585		noncoding transcript	Het
Smarcad1	T	A	6: 65,092,526	F530Y	probably damaging	Het
Spag6	A	G	2: 18,742,873		probably benign	Het
Supt16	A	T	14: 52,178,141	I379N	possibly damaging	Het
Tmem154	A	G	3: 84,684,260	N39S	probably benign	Het
Ubash3b	T	A	9: 41,037,479	Y180F	probably damaging	Het
Usp48	T	A	4: 137,639,295	D921E	possibly damaging	Het
Zdhhc20	T	C	14: 57,839,099	T366A	probably benign	Het
Zfp456	A	T	13: 67,366,331	C419S	probably damaging	Het
Zfp69	T	C	4: 120,931,084	T345A	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
IGL01373:Ptpn22	APN	3	103886204	missense	probably damaging	0.99
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
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
R8129:Ptpn22	UTSW	3	103890284	critical splice donor site	probably null
R8141:Ptpn22	UTSW	3	103886327	missense	possibly damaging	0.67
R9039:Ptpn22	UTSW	3	103912235	unclassified	probably benign
R9511:Ptpn22	UTSW	3	103885597	missense	probably benign	0.37
R9790:Ptpn22	UTSW	3	103888526	missense	possibly damaging	0.60
R9791:Ptpn22	UTSW	3	103888526	missense	possibly damaging	0.60
Z1177:Ptpn22	UTSW	3	103885700	missense	probably benign	0.35

Posted On

2016-08-02