Mutagenetix > Incidental Mutation

Incidental Mutation 'R8535:Ptpn21'

659213

Institutional Source

Beutler Lab

Gene Symbol

Ptpn21

Ensembl Gene

ENSMUSG00000021009

Gene Name

protein tyrosine phosphatase, non-receptor type 21

Synonyms

PTPRL10, PTPD1

MMRRC Submission

068504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R8535 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98643000-98703664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98646285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1058 (T1058S)

Ref Sequence

ENSEMBL: ENSMUSP00000126975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085116] [ENSMUST00000170188] [ENSMUST00000221148] [ENSMUST00000221535] [ENSMUST00000221932]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000085116
AA Change: T1058S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: T1058S

Domain	Start	End	E-Value	Type
B41	19	222	5.04e-69	SMART
FERM_C	226	312	4.66e-26	SMART
low complexity region	332	343	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
PTPc	897	1171	7.31e-111	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000170188
AA Change: T1058S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: T1058S

Domain	Start	End	E-Value	Type
B41	19	222	5.04e-69	SMART
FERM_C	226	312	4.66e-26	SMART
low complexity region	332	343	N/A	INTRINSIC
low complexity region	563	574	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
PTPc	897	1171	7.31e-111	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221148

Predicted Effect

probably benign
Transcript: ENSMUST00000221535

Predicted Effect

probably benign
Transcript: ENSMUST00000221932

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (34/34)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal domain, similar to cytoskeletal- associated proteins including band 4.1, ezrin, merlin, and radixin. This PTP was shown to specially interact with BMX/ETK, a member of Tec tyrosine kinase family characterized by a multimodular structures including PH, SH3, and SH2 domains. The interaction of this PTP with BMX kinase was found to increase the activation of STAT3, but not STAT2 kinase. Studies of the similar gene in mice suggested the possible roles of this PTP in liver regeneration and spermatogenesis. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	T	11: 54,229,328 (GRCm39)	I362F	probably damaging	Het
Anks1b	T	A	10: 90,784,493 (GRCm39)	S1154T	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Chd7	T	A	4: 8,859,211 (GRCm39)	S2434T	possibly damaging	Het
Crybg2	T	C	4: 133,808,514 (GRCm39)	S1372P	probably damaging	Het
Dock5	A	G	14: 68,031,425 (GRCm39)	Y1002H	probably benign	Het
Dst	T	C	1: 34,225,082 (GRCm39)	S1163P	probably damaging	Het
Fah	A	T	7: 84,250,305 (GRCm39)	S14T	probably benign	Het
Gcnt7	T	C	2: 172,296,466 (GRCm39)	I119M	possibly damaging	Het
Gja10	G	A	4: 32,602,274 (GRCm39)	L37F	probably damaging	Het
Gm10750	A	G	2: 148,857,888 (GRCm39)	V121A	unknown	Het
Klhl25	G	A	7: 75,515,843 (GRCm39)	V250I	probably benign	Het
Kmt2a	A	C	9: 44,730,812 (GRCm39)	S200R	possibly damaging	Het
Map1b	T	A	13: 99,571,662 (GRCm39)	D353V	probably damaging	Het
Myh8	G	A	11: 67,169,741 (GRCm39)	R20Q	probably damaging	Het
Or4c127	G	A	2: 89,833,511 (GRCm39)	V254M	probably benign	Het
Or6c200-ps1	T	C	10: 128,869,892 (GRCm39)	Y273C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Pkn3	A	T	2: 29,969,936 (GRCm39)		probably null	Het
Ryr3	A	G	2: 112,779,433 (GRCm39)		probably null	Het
Sardh	T	A	2: 27,129,657 (GRCm39)	I263F	probably damaging	Het
Scart1	G	A	7: 139,804,634 (GRCm39)	V546M	probably benign	Het
Sh3bp5	A	G	14: 31,139,375 (GRCm39)	V66A	probably benign	Het
Styxl2	T	C	1: 165,928,730 (GRCm39)	D294G	probably benign	Het
Taf4b	T	A	18: 14,955,195 (GRCm39)	S583T	probably damaging	Het
Tbcb	G	A	7: 29,926,421 (GRCm39)	P132L	probably benign	Het
Tcirg1	A	G	19: 3,946,324 (GRCm39)	I791T	probably damaging	Het
Tmeff2	T	A	1: 51,220,985 (GRCm39)	V320D	probably damaging	Het
Tnfrsf19	T	C	14: 61,208,417 (GRCm39)	E368G	probably benign	Het
Trdv2-1	T	A	14: 54,183,972 (GRCm39)	I67N	probably damaging	Het
Unc13c	G	A	9: 73,447,653 (GRCm39)	T1849I	probably benign	Het
Vav2	G	A	2: 27,161,841 (GRCm39)	T655I	probably damaging	Het
Vps50	T	C	6: 3,565,612 (GRCm39)	Y517H	possibly damaging	Het
Wdr27	G	A	17: 15,123,799 (GRCm39)	T558I	possibly damaging	Het
Yeats2	C	T	16: 19,977,926 (GRCm39)	R137W	probably damaging	Het

Other mutations in Ptpn21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Ptpn21	APN	12	98,646,727 (GRCm39)	missense	probably damaging	1.00
IGL00576:Ptpn21	APN	12	98,699,860 (GRCm39)	missense	probably damaging	1.00
IGL00577:Ptpn21	APN	12	98,699,860 (GRCm39)	missense	probably damaging	1.00
IGL00580:Ptpn21	APN	12	98,699,860 (GRCm39)	missense	probably damaging	1.00
IGL00583:Ptpn21	APN	12	98,699,860 (GRCm39)	missense	probably damaging	1.00
IGL00773:Ptpn21	APN	12	98,654,572 (GRCm39)	missense	probably benign	0.00
IGL00780:Ptpn21	APN	12	98,646,630 (GRCm39)	missense	probably damaging	1.00
IGL01516:Ptpn21	APN	12	98,681,448 (GRCm39)	missense	probably damaging	1.00
IGL01616:Ptpn21	APN	12	98,646,272 (GRCm39)	missense	probably damaging	1.00
IGL01939:Ptpn21	APN	12	98,655,420 (GRCm39)	missense	probably damaging	0.96
IGL02237:Ptpn21	APN	12	98,671,351 (GRCm39)	critical splice donor site	probably null
IGL02512:Ptpn21	APN	12	98,645,651 (GRCm39)	missense	probably benign	0.00
IGL02852:Ptpn21	APN	12	98,681,454 (GRCm39)	critical splice acceptor site	probably null
IGL02894:Ptpn21	APN	12	98,655,891 (GRCm39)	splice site	probably benign
IGL03024:Ptpn21	APN	12	98,646,315 (GRCm39)	missense	probably benign
IGL03220:Ptpn21	APN	12	98,644,882 (GRCm39)	missense	probably damaging	1.00
R0144:Ptpn21	UTSW	12	98,654,868 (GRCm39)	missense	probably benign	0.01
R0472:Ptpn21	UTSW	12	98,670,499 (GRCm39)	splice site	probably benign
R0675:Ptpn21	UTSW	12	98,654,475 (GRCm39)	missense	probably benign	0.16
R0771:Ptpn21	UTSW	12	98,655,339 (GRCm39)	missense	probably damaging	1.00
R1434:Ptpn21	UTSW	12	98,654,849 (GRCm39)	missense	probably damaging	1.00
R1470:Ptpn21	UTSW	12	98,654,735 (GRCm39)	missense	probably benign
R1470:Ptpn21	UTSW	12	98,654,735 (GRCm39)	missense	probably benign
R1837:Ptpn21	UTSW	12	98,699,885 (GRCm39)	missense	probably damaging	0.99
R1897:Ptpn21	UTSW	12	98,646,664 (GRCm39)	splice site	probably null
R2048:Ptpn21	UTSW	12	98,655,785 (GRCm39)	missense	possibly damaging	0.94
R2376:Ptpn21	UTSW	12	98,654,573 (GRCm39)	missense	possibly damaging	0.62
R3709:Ptpn21	UTSW	12	98,654,800 (GRCm39)	missense	probably benign
R4197:Ptpn21	UTSW	12	98,646,397 (GRCm39)	missense	probably damaging	1.00
R4283:Ptpn21	UTSW	12	98,699,734 (GRCm39)	missense	probably damaging	0.99
R4368:Ptpn21	UTSW	12	98,644,852 (GRCm39)	missense	probably damaging	1.00
R4397:Ptpn21	UTSW	12	98,681,319 (GRCm39)	missense	probably damaging	0.98
R4397:Ptpn21	UTSW	12	98,654,507 (GRCm39)	missense	probably damaging	1.00
R4703:Ptpn21	UTSW	12	98,645,651 (GRCm39)	missense	probably benign	0.00
R4737:Ptpn21	UTSW	12	98,675,103 (GRCm39)	missense	probably benign	0.03
R4829:Ptpn21	UTSW	12	98,655,555 (GRCm39)	missense	probably damaging	1.00
R4926:Ptpn21	UTSW	12	98,681,454 (GRCm39)	critical splice acceptor site	probably null
R4974:Ptpn21	UTSW	12	98,646,362 (GRCm39)	missense	probably damaging	1.00
R5022:Ptpn21	UTSW	12	98,645,666 (GRCm39)	missense	probably damaging	1.00
R5057:Ptpn21	UTSW	12	98,645,666 (GRCm39)	missense	probably damaging	1.00
R5395:Ptpn21	UTSW	12	98,681,376 (GRCm39)	missense	probably damaging	1.00
R5608:Ptpn21	UTSW	12	98,655,036 (GRCm39)	missense	probably benign	0.00
R5741:Ptpn21	UTSW	12	98,645,548 (GRCm39)	missense	probably damaging	1.00
R5785:Ptpn21	UTSW	12	98,648,809 (GRCm39)	missense	probably damaging	0.99
R5959:Ptpn21	UTSW	12	98,675,148 (GRCm39)	splice site	probably null
R5968:Ptpn21	UTSW	12	98,677,149 (GRCm39)	missense	probably damaging	1.00
R5984:Ptpn21	UTSW	12	98,655,335 (GRCm39)	missense	probably damaging	1.00
R6005:Ptpn21	UTSW	12	98,644,811 (GRCm39)	makesense	probably null
R6181:Ptpn21	UTSW	12	98,666,258 (GRCm39)	missense	probably damaging	0.99
R6226:Ptpn21	UTSW	12	98,681,431 (GRCm39)	missense	probably damaging	1.00
R6226:Ptpn21	UTSW	12	98,646,375 (GRCm39)	missense	probably benign	0.24
R6317:Ptpn21	UTSW	12	98,655,521 (GRCm39)	missense	probably damaging	1.00
R6370:Ptpn21	UTSW	12	98,655,293 (GRCm39)	missense	possibly damaging	0.86
R6485:Ptpn21	UTSW	12	98,665,131 (GRCm39)	nonsense	probably null
R6894:Ptpn21	UTSW	12	98,681,440 (GRCm39)	missense	probably damaging	1.00
R7122:Ptpn21	UTSW	12	98,655,171 (GRCm39)	missense	probably damaging	0.99
R7232:Ptpn21	UTSW	12	98,654,996 (GRCm39)	missense	probably benign	0.17
R7289:Ptpn21	UTSW	12	98,670,450 (GRCm39)	missense	probably benign	0.35
R7327:Ptpn21	UTSW	12	98,646,360 (GRCm39)	missense	probably damaging	1.00
R7474:Ptpn21	UTSW	12	98,703,622 (GRCm39)	critical splice donor site	probably null
R7748:Ptpn21	UTSW	12	98,655,031 (GRCm39)	missense	probably benign	0.01
R7816:Ptpn21	UTSW	12	98,648,791 (GRCm39)	missense	probably damaging	1.00
R7867:Ptpn21	UTSW	12	98,671,435 (GRCm39)	missense	probably damaging	1.00
R7878:Ptpn21	UTSW	12	98,681,387 (GRCm39)	missense	probably damaging	1.00
R7911:Ptpn21	UTSW	12	98,655,101 (GRCm39)	missense	probably damaging	0.99
R8100:Ptpn21	UTSW	12	98,648,881 (GRCm39)	missense	possibly damaging	0.61
R8199:Ptpn21	UTSW	12	98,644,841 (GRCm39)	missense	possibly damaging	0.92
R8272:Ptpn21	UTSW	12	98,654,789 (GRCm39)	missense	probably benign
R8481:Ptpn21	UTSW	12	98,655,153 (GRCm39)	missense	probably benign	0.03
R8775:Ptpn21	UTSW	12	98,649,001 (GRCm39)	critical splice acceptor site	probably null
R8775-TAIL:Ptpn21	UTSW	12	98,649,001 (GRCm39)	critical splice acceptor site	probably null
R8929:Ptpn21	UTSW	12	98,655,396 (GRCm39)	missense	probably damaging	0.99
R8969:Ptpn21	UTSW	12	98,655,284 (GRCm39)	missense	probably benign	0.39
R9189:Ptpn21	UTSW	12	98,655,261 (GRCm39)	missense	probably damaging	1.00
R9781:Ptpn21	UTSW	12	98,655,170 (GRCm39)	missense	probably damaging	1.00
Z1177:Ptpn21	UTSW	12	98,654,717 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GGCATCTCTTAAACGTGCCTTC -3'
(R):5'- GTCTTTAACAGGAGGGAGGC -3'

Sequencing Primer
(F):5'- CATATGATGTGGCCCATGACG -3'
(R):5'- CCGGGAGAAGAGCTTTAGGTACTG -3'

Posted On

2021-01-18