Mutagenetix > Incidental Mutation

Incidental Mutation 'R8141:Ptpn22'

632526

Institutional Source

Beutler Lab

Gene Symbol

Ptpn22

Ensembl Gene

ENSMUSG00000027843

Gene Name

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

Synonyms

70zpep, Ptpn8

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.782) question?

Stock #

R8141 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

103859795-103912247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103886327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 598 (E598G)

Ref Sequence

ENSEMBL: ENSMUSP00000029433 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000029433
AA Change: E598G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: E598G

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

possibly damaging
Transcript: ENSMUST00000146071
AA Change: E598G

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: E598G

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.3%
20x: 90.7%

Validation Efficiency

100% (59/59)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,258,405	T229A	probably benign	Het
4930438A08Rik	A	G	11: 58,286,585	E40G		Het
Actn2	T	C	13: 12,288,630	D428G	probably damaging	Het
Arl14epl	C	A	18: 46,926,343	N8K	probably benign	Het
Bend7	T	C	2: 4,752,825	V226A	probably benign	Het
C1s1	A	T	6: 124,531,362	L556Q	probably damaging	Het
Casr	T	C	16: 36,494,811	K966E	probably damaging	Het
Ccm2l	T	C	2: 153,070,871	L110P	probably damaging	Het
Cdhr4	G	A	9: 107,996,792	R59H		Het
Celf3	C	A	3: 94,488,543	N410K	probably damaging	Het
Cpne6	T	C	14: 55,512,609	C66R	possibly damaging	Het
Cyp2f2	G	A	7: 27,129,253	V183I	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam53b	A	C	7: 132,760,029	V90G	probably damaging	Het
Fat3	T	A	9: 15,997,066	I2547F	possibly damaging	Het
Foxk1	A	G	5: 142,453,961	Y524C	probably damaging	Het
Gm884	T	C	11: 103,621,029	T38A	unknown	Het
Gpr87	A	G	3: 59,179,599	S162P	probably damaging	Het
Grasp	T	A	15: 101,231,909	C358S	possibly damaging	Het
Ifi204	A	G	1: 173,755,623	V343A	possibly damaging	Het
Igsf10	A	G	3: 59,330,528	L744P	probably damaging	Het
Iqub	T	A	6: 24,491,609	K359N	probably benign	Het
Kdm3b	A	T	18: 34,828,546	K1459*	probably null	Het
Kirrel	C	T	3: 87,086,428	W507*	probably null	Het
Klra17	T	C	6: 129,872,329	D94G	probably damaging	Het
Llgl1	G	C	11: 60,710,316	E693D	probably benign	Het
Lypd4	A	T	7: 24,864,829	D201E	possibly damaging	Het
Nin	A	G	12: 70,030,021	S1794P		Het
Olfr430	T	C	1: 174,069,922	L208P	probably damaging	Het
Oog2	T	C	4: 144,194,207	L70P	probably damaging	Het
Pacsin1	G	T	17: 27,707,060	R282S	possibly damaging	Het
Pcdhb9	T	A	18: 37,402,308	Y452N	probably damaging	Het
Pdgfra	T	C	5: 75,177,726	V547A	possibly damaging	Het
Plcb4	T	C	2: 135,939,249	F209L	probably damaging	Het
Pnpla6	T	C	8: 3,521,384	S158P	probably benign	Het
Prlhr	C	G	19: 60,467,309	R273P	probably damaging	Het
Prss41	G	A	17: 23,837,633	P196L	probably damaging	Het
Rasal2	T	C	1: 157,164,670	D569G	possibly damaging	Het
Sf3b3	A	C	8: 110,820,851	M715R	possibly damaging	Het
Ska1	T	C	18: 74,206,836	N13S	probably benign	Het
Spocd1	A	C	4: 129,929,704	E98A		Het
Sycp1	G	T	3: 102,935,569	A28E	possibly damaging	Het
Syf2	C	T	4: 134,936,871	R199C	probably damaging	Het
Syne2	A	G	12: 76,061,668	D942G	possibly damaging	Het
Tmem63a	A	G	1: 180,974,211	T764A	probably benign	Het
Ttf1	C	T	2: 29,067,226	Q503*	probably null	Het
Usp13	T	C	3: 32,894,876	V454A	possibly damaging	Het
Usp47	A	G	7: 112,053,265	T50A	possibly damaging	Het
Wdr66	T	G	5: 123,286,430	V726G	possibly damaging	Het
Zadh2	T	C	18: 84,094,526	L109P	probably benign	Het
Zfyve26	A	T	12: 79,268,557	C1382S	possibly damaging	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
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
R8129:Ptpn22	UTSW	3	103890284	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- GAATAGTGCTGATTCGAAGATGTC -3'
(R):5'- TATGAGGCCTTCCTGTTGGC -3'

Sequencing Primer
(F):5'- GTCTTTTGATCTGCCTGAGAAACAG -3'
(R):5'- TGTTGGCACAGATGGGTCCC -3'

Posted On

2020-06-30