Mutagenetix > Incidental Mutation

Incidental Mutation 'R1698:Ptpn22'

192384

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

039731-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.720) question?

Stock #

R1698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103859795-103912247 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103885798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 422 (S422P)

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: S422P

PolyPhen 2 Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843
AA Change: S422P

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 benign
Transcript: ENSMUST00000146071
AA Change: S422P

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843
AA Change: S422P

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	C	6: 121,645,158	E340A	possibly damaging	Het
Abca13	A	G	11: 9,314,507	D2963G	probably benign	Het
Actn3	T	C	19: 4,862,207	D783G	possibly damaging	Het
Adamtsl2	A	G	2: 27,103,127	E723G	possibly damaging	Het
Agrn	G	T	4: 156,166,558	Q1931K	probably benign	Het
Ankrd27	G	A	7: 35,614,521	A426T	probably benign	Het
Atg9b	C	A	5: 24,388,188	G406C	probably damaging	Het
BC005561	C	T	5: 104,520,510	A966V	probably benign	Het
C1ra	A	T	6: 124,522,766	Q637L	probably benign	Het
Cdhr2	A	T	13: 54,719,581	M438L	probably benign	Het
Cep350	T	C	1: 155,953,358	I267V	possibly damaging	Het
Chrna5	A	G	9: 55,004,642	Y138C	probably damaging	Het
Chst3	T	A	10: 60,185,703	M441L	probably benign	Het
Cmya5	G	A	13: 93,063,519	P3434S	probably benign	Het
Cog2	T	A	8: 124,525,683	L42Q	probably damaging	Het
Cpq	A	T	15: 33,250,126	I210F	probably benign	Het
Crnn	C	A	3: 93,148,458	Q184K	probably damaging	Het
Csnka2ip	A	T	16: 64,478,059	Y647*	probably null	Het
D5Ertd579e	C	T	5: 36,604,530	R1331H	probably benign	Het
Dennd5a	C	T	7: 109,917,380		probably null	Het
Dync1h1	A	G	12: 110,626,992	Q1231R	possibly damaging	Het
Erbin	T	A	13: 103,833,731	I1126F	possibly damaging	Het
Fastkd1	T	C	2: 69,702,469	D518G	probably benign	Het
Gcc1	A	G	6: 28,421,111	L69P	possibly damaging	Het
Gkn1	T	C	6: 87,347,169	Y119C	probably damaging	Het
Gmpr	T	G	13: 45,517,044	W81G	probably benign	Het
Gyg	T	A	3: 20,138,051	I236F	probably benign	Het
Hcrtr2	T	C	9: 76,246,453	Y219C	probably damaging	Het
Hmcn1	G	A	1: 150,565,369	Q5379*	probably null	Het
Kank1	T	C	19: 25,411,317	C785R	probably benign	Het
Lrp1b	A	T	2: 40,851,806	C3036*	probably null	Het
Mdga2	T	C	12: 66,689,335	D373G	probably damaging	Het
Mgat2	A	T	12: 69,185,719	I356F	probably benign	Het
Miga2	A	G	2: 30,377,997	D346G	probably damaging	Het
Mprip	T	A	11: 59,760,258	L1596Q	possibly damaging	Het
Mroh2b	G	A	15: 4,914,140	R386Q	probably benign	Het
Mst1r	T	A	9: 107,919,980	S1349R	probably benign	Het
Mtmr3	C	T	11: 4,492,825	R403H	possibly damaging	Het
Mycbpap	G	A	11: 94,508,143	Q460*	probably null	Het
Myo9a	T	C	9: 59,868,181	V1025A	probably benign	Het
Ncapd2	C	T	6: 125,168,590	E1365K	probably null	Het
Nkiras2	C	A	11: 100,625,163	D105E	probably damaging	Het
Nolc1	T	G	19: 46,081,431		probably null	Het
Nos1	T	C	5: 117,867,232	F6L	probably benign	Het
Olfr1112	G	T	2: 87,191,737	V17L	probably benign	Het
Olfr1278	T	A	2: 111,292,560	C97*	probably null	Het
Olfr1369-ps1	C	T	13: 21,116,565	T291I	probably benign	Het
Olfr218	A	T	1: 173,203,371	N5I	probably damaging	Het
Olfr325	T	C	11: 58,581,251	Y136H	probably damaging	Het
Olfr910	T	A	9: 38,539,256	Y120*	probably null	Het
Pfkm	A	G	15: 98,128,318	E598G	possibly damaging	Het
Phf2	A	T	13: 48,807,630	D861E	unknown	Het
Polr2a	A	G	11: 69,739,877		probably null	Het
Popdc2	G	A	16: 38,369,491	V167M	probably damaging	Het
Rasa2	T	C	9: 96,568,375	K490R	possibly damaging	Het
Rbfox3	T	A	11: 118,495,221	D286V	probably damaging	Het
Rdh13	A	G	7: 4,427,791	W223R	probably damaging	Het
Riok3	T	C	18: 12,128,929	S7P	probably benign	Het
Rnaseh2b	A	G	14: 62,353,632	E144G	probably benign	Het
Rnf20	C	T	4: 49,651,498	Q655*	probably null	Het
Rpap2	T	C	5: 107,603,550	Y8H	probably damaging	Het
Slc5a10	T	C	11: 61,709,602	Y181C	probably benign	Het
Snd1	G	T	6: 28,888,253	G896*	probably null	Het
Spast	C	T	17: 74,356,160	Q158*	probably null	Het
Tas2r104	G	A	6: 131,685,584	S54F	probably damaging	Het
Tcaf2	C	T	6: 42,628,017	W611*	probably null	Het
Timp4	G	A	6: 115,250,403		probably null	Het
Tmem45a	G	A	16: 56,823,570	S72L	probably benign	Het
Tnrc18	T	C	5: 142,788,703	T124A	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ttn	T	C	2: 76,942,915	D2381G	probably damaging	Het
Uevld	T	C	7: 46,955,624	T41A	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc5d	T	C	8: 28,696,478	E527G	probably damaging	Het
Vmn2r125	C	T	4: 156,351,038	T237I	probably benign	Het
Vmn2r63	A	C	7: 42,933,614	I59S	probably benign	Het
Vps72	G	A	3: 95,118,695	S106N	probably benign	Het
Zan	A	C	5: 137,409,669		probably benign	Het
Zbtb38	T	C	9: 96,685,462	K1190E	probably benign	Het
Zc3h6	T	C	2: 129,017,358	V1103A	probably benign	Het
Zfp407	G	A	18: 84,562,157	T277I	probably damaging	Het
Zfp804b	A	G	5: 6,769,509	S1149P	probably 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
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
R9511:Ptpn22	UTSW	3	103885597	missense	probably benign	0.37
Z1177:Ptpn22	UTSW	3	103885700	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GCACTCGGCTAAATCAAGCCCTTC -3'
(R):5'- AGGCACCAGGCAGTGAATAATTCAG -3'

Sequencing Primer
(F):5'- GGCTAAATCAAGCCCTTCTTTTAAC -3'
(R):5'- GAAACATGGGCCACTCTTTG -3'

Posted On

2014-05-14