Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Ptpn22'

734593

Institutional Source

Beutler Lab

Gene Symbol

Ptpn22

Ensembl Gene

ENSMUSG00000027843

Gene Name

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

Synonyms

Ptpn8, 70zpep

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103767111-103819563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103795842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 608 (T608S)

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: T608S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: T608S

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: T608S

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: T608S

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	probably benign	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
R9511:Ptpn22	UTSW	3	103,792,913 (GRCm39)	missense	probably benign	0.37
R9790: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'- CAACTCCATCAGAATGTGGGG -3'
(R):5'- GCCAGTTCTTAGGAAGGAGG -3'

Sequencing Primer
(F):5'- GGGGGCACACTTAAATCTTTACATCC -3'
(R):5'- GGTTATATTTAAAGGAGGCAGATGG -3'

Posted On

2022-11-14