Mutagenetix > Incidental Mutation

Incidental Mutation 'R9511:Ptpn22'

718153

Institutional Source

Beutler Lab

Gene Symbol

Ptpn22

Ensembl Gene

ENSMUSG00000027843

Gene Name

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

Synonyms

Ptpn8, 70zpep

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R9511 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103767111-103819563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103792913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 355 (S355T)

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

probably benign
Transcript: ENSMUST00000029433
AA Change: S355T

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: S355T

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: ENSMUST00000146071
AA Change: S355T

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: S355T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,848 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,278,130 (GRCm39)	S3103R	probably benign	Het
Alg9	A	C	9: 50,717,525 (GRCm39)	Y436S	probably damaging	Het
Ankar	G	A	1: 72,719,161 (GRCm39)	R563C	probably benign	Het
Ankrd34a	C	A	3: 96,505,401 (GRCm39)	R202S	probably benign	Het
Art4	T	A	6: 136,831,613 (GRCm39)	N176I	possibly damaging	Het
Bivm	A	G	1: 44,182,250 (GRCm39)	E486G	possibly damaging	Het
Ccdc168	T	G	1: 44,098,854 (GRCm39)	D748A	probably benign	Het
Ccdc3	C	A	2: 5,143,090 (GRCm39)	Q116K	probably damaging	Het
Cdc42bpb	G	A	12: 111,261,372 (GRCm39)	P1656S	probably benign	Het
Cdh6	T	C	15: 13,034,677 (GRCm39)	D661G	probably damaging	Het
Chek1	T	C	9: 36,624,747 (GRCm39)	N368S	probably benign	Het
Dnah11	A	T	12: 117,878,352 (GRCm39)	F3924L	probably damaging	Het
Dusp7	T	C	9: 106,248,125 (GRCm39)	I251T	probably damaging	Het
Dysf	T	A	6: 84,090,650 (GRCm39)	W988R	probably damaging	Het
Dzip1l	T	C	9: 99,519,710 (GRCm39)	V79A	possibly damaging	Het
Ebf1	A	G	11: 44,815,393 (GRCm39)	I344V	probably benign	Het
Ern2	T	C	7: 121,776,823 (GRCm39)	E336G	probably benign	Het
Fat4	T	C	3: 39,034,802 (GRCm39)	L2818P	probably damaging	Het
Gjb3	T	C	4: 127,220,131 (GRCm39)	S134G	probably damaging	Het
Gm10647	T	C	9: 66,705,756 (GRCm39)	F108L	unknown	Het
Gm19410	A	T	8: 36,257,848 (GRCm39)	D762V	probably damaging	Het
Gper1	A	G	5: 139,412,138 (GRCm39)	K161R	probably benign	Het
Grin1	A	G	2: 25,187,426 (GRCm39)	M628T	probably damaging	Het
Gsdmc	A	T	15: 63,649,897 (GRCm39)	D331E	probably benign	Het
Haus3	C	A	5: 34,325,571 (GRCm39)	W29C	probably damaging	Het
Il10ra	T	C	9: 45,167,690 (GRCm39)	E289G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnma1	T	C	14: 23,361,793 (GRCm39)	T1133A	possibly damaging	Het
Ksr1	G	A	11: 78,924,094 (GRCm39)	T458M	possibly damaging	Het
Mc5r	T	A	18: 68,472,565 (GRCm39)	M308K	possibly damaging	Het
Mis18a	T	C	16: 90,518,525 (GRCm39)	S146G	possibly damaging	Het
Mrpl50	G	A	4: 49,514,501 (GRCm39)	R57*	probably null	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Nanos1	T	A	19: 60,745,413 (GRCm39)	I237N	probably damaging	Het
Ncor1	TGC	TGCGGC	11: 62,324,449 (GRCm39)		probably benign	Het
Ndst3	T	A	3: 123,400,555 (GRCm39)	E450D	probably damaging	Het
Nek10	C	A	14: 14,828,511 (GRCm38)	T111K	probably benign	Het
Nipal2	T	C	15: 34,584,833 (GRCm39)	Y245C	probably damaging	Het
Npat	T	A	9: 53,473,406 (GRCm39)	D399E	probably benign	Het
Opa1	A	G	16: 29,429,738 (GRCm39)	S378G	probably damaging	Het
Or5b102	T	C	19: 13,041,119 (GRCm39)	S115P	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pex16	A	T	2: 92,209,559 (GRCm39)		probably null	Het
Plec	A	T	15: 76,058,897 (GRCm39)	I3680N	probably damaging	Het
Plin3	A	T	17: 56,591,225 (GRCm39)	V185E	probably damaging	Het
Prex1	T	A	2: 166,413,481 (GRCm39)	D1512V	probably damaging	Het
Ranbp3l	A	G	15: 9,041,991 (GRCm39)		probably benign	Het
Scn5a	A	G	9: 119,351,611 (GRCm39)	I790T	probably benign	Het
Sema6d	T	C	2: 124,499,943 (GRCm39)	F340L	probably damaging	Het
Slc22a2	A	G	17: 12,828,916 (GRCm39)	T341A	probably damaging	Het
Slc6a6	T	C	6: 91,721,921 (GRCm39)	Y374H	probably damaging	Het
Slitrk3	T	G	3: 72,958,272 (GRCm39)	S167R	possibly damaging	Het
Smchd1	G	A	17: 71,750,899 (GRCm39)	H340Y	possibly damaging	Het
Sorcs1	C	T	19: 50,666,521 (GRCm39)	R129Q	probably benign	Het
Sox9	A	G	11: 112,676,001 (GRCm39)	T397A	possibly damaging	Het
Tnpo1	C	A	13: 99,003,621 (GRCm39)	R245L	possibly damaging	Het
Traip	T	A	9: 107,838,785 (GRCm39)	M183K	probably damaging	Het
Trpc6	A	T	9: 8,680,419 (GRCm39)	E882D	probably benign	Het
Uba6	C	A	5: 86,288,219 (GRCm39)	G491V	probably damaging	Het
Uqcrfs1	A	T	13: 30,729,037 (GRCm39)	V65E	probably benign	Het
Urgcp	T	C	11: 5,668,128 (GRCm39)	D113G	probably damaging	Het
Wdr76	C	T	2: 121,372,976 (GRCm39)	T503M	probably damaging	Het
Zfp27	T	C	7: 29,593,641 (GRCm39)	T775A	possibly damaging	Het
Zfp518b	A	T	5: 38,829,395 (GRCm39)	V870E	possibly damaging	Het
Zfp932	T	A	5: 110,155,177 (GRCm39)	H63Q	possibly damaging	Het
Zkscan6	C	A	11: 65,712,817 (GRCm39)	T250N	probably damaging	Het
Zmat2	A	T	18: 36,930,958 (GRCm39)	K161N	possibly damaging	Het
Zyg11a	A	G	4: 108,062,420 (GRCm39)	L127P	probably damaging	Het

Other mutations in Ptpn22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Ptpn22	APN	3	103,810,690 (GRCm39)	missense	probably benign	0.01
IGL01373:Ptpn22	APN	3	103,793,520 (GRCm39)	missense	probably damaging	0.99
IGL01943:Ptpn22	APN	3	103,793,652 (GRCm39)	missense	probably benign	0.02
IGL02092:Ptpn22	APN	3	103,784,637 (GRCm39)	missense	probably damaging	1.00
IGL02431:Ptpn22	APN	3	103,810,713 (GRCm39)	missense	probably benign	0.01
IGL02732:Ptpn22	APN	3	103,793,349 (GRCm39)	missense	probably damaging	0.98
IGL02738:Ptpn22	APN	3	103,781,382 (GRCm39)	splice site	probably benign
IGL03406:Ptpn22	APN	3	103,819,332 (GRCm39)	missense	probably benign	0.14
R0490:Ptpn22	UTSW	3	103,793,495 (GRCm39)	missense	probably damaging	1.00
R0494:Ptpn22	UTSW	3	103,767,771 (GRCm39)	missense	probably damaging	1.00
R0626:Ptpn22	UTSW	3	103,767,721 (GRCm39)	start codon destroyed	probably null	1.00
R0743:Ptpn22	UTSW	3	103,809,487 (GRCm39)	missense	probably damaging	1.00
R1441:Ptpn22	UTSW	3	103,781,563 (GRCm39)	missense	probably damaging	1.00
R1610:Ptpn22	UTSW	3	103,809,512 (GRCm39)	splice site	probably null
R1698:Ptpn22	UTSW	3	103,793,114 (GRCm39)	missense	probably benign	0.20
R1785:Ptpn22	UTSW	3	103,781,368 (GRCm39)	missense	probably damaging	0.99
R1786:Ptpn22	UTSW	3	103,781,368 (GRCm39)	missense	probably damaging	0.99
R1919:Ptpn22	UTSW	3	103,784,054 (GRCm39)	critical splice donor site	probably null
R2045:Ptpn22	UTSW	3	103,781,337 (GRCm39)	missense	possibly damaging	0.61
R3977:Ptpn22	UTSW	3	103,780,957 (GRCm39)	splice site	probably benign
R4176:Ptpn22	UTSW	3	103,793,561 (GRCm39)	missense	probably benign	0.00
R4478:Ptpn22	UTSW	3	103,809,380 (GRCm39)	intron	probably benign
R5093:Ptpn22	UTSW	3	103,789,418 (GRCm39)	missense	probably benign	0.39
R5579:Ptpn22	UTSW	3	103,789,455 (GRCm39)	splice site	probably null
R6022:Ptpn22	UTSW	3	103,793,421 (GRCm39)	missense	probably benign	0.00
R6110:Ptpn22	UTSW	3	103,819,331 (GRCm39)	missense	probably damaging	0.96
R6387:Ptpn22	UTSW	3	103,792,702 (GRCm39)	missense	probably benign	0.18
R7335:Ptpn22	UTSW	3	103,793,335 (GRCm39)	missense	probably damaging	0.97
R7516:Ptpn22	UTSW	3	103,792,854 (GRCm39)	missense	probably benign	0.16
R7523:Ptpn22	UTSW	3	103,819,331 (GRCm39)	missense	probably damaging	0.96
R7583:Ptpn22	UTSW	3	103,809,430 (GRCm39)	missense	probably benign	0.11
R8129:Ptpn22	UTSW	3	103,797,600 (GRCm39)	critical splice donor site	probably null
R8141:Ptpn22	UTSW	3	103,793,643 (GRCm39)	missense	possibly damaging	0.67
R9039:Ptpn22	UTSW	3	103,819,551 (GRCm39)	unclassified	probably benign
R9790:Ptpn22	UTSW	3	103,795,842 (GRCm39)	missense	possibly damaging	0.60
R9791:Ptpn22	UTSW	3	103,795,842 (GRCm39)	missense	possibly damaging	0.60
Z1177:Ptpn22	UTSW	3	103,793,016 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TGACTCACTGTGCTTAAAGGATG -3'
(R):5'- TTATGGGCAGAGCACTAGGAC -3'

Sequencing Primer
(F):5'- GGATGAAATCTCACGCTCCAGTTG -3'
(R):5'- CCAGACTTTGATACTTCTGAAGGG -3'

Posted On

2022-07-18