Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00576:Ptpn21'

277799

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn21

Ensembl Gene

ENSMUSG00000021009

Gene Name

protein tyrosine phosphatase, non-receptor type 21

Synonyms

PTPRL10, PTPD1

Accession Numbers

Essential gene?

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

Stock #

IGL00576

Quality Score

Status

Chromosome

Chromosomal Location

98643000-98703664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 98699860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 18 (S18F)

Ref Sequence

ENSEMBL: ENSMUSP00000152067 (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: S18F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: S18F

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: S18F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: S18F

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

possibly damaging
Transcript: ENSMUST00000221148
AA Change: S18F

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221535
AA Change: S18F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221932
AA Change: S18F

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222071

Coding Region Coverage

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak8	T	C	2: 28,632,729 (GRCm39)	L316P	probably damaging	Het
Ampd3	C	T	7: 110,388,028 (GRCm39)		probably benign	Het
Arhgap42	C	A	9: 8,997,621 (GRCm39)	E835*	probably null	Het
Arid2	G	A	15: 96,254,639 (GRCm39)	V162M	probably damaging	Het
Atp2a2	C	T	5: 122,596,146 (GRCm39)		probably null	Het
Bmper	A	G	9: 23,317,899 (GRCm39)	D506G	probably damaging	Het
Clca4b	A	G	3: 144,631,108 (GRCm39)	F251L	probably damaging	Het
Col12a1	T	C	9: 79,554,934 (GRCm39)	D2048G	probably damaging	Het
Dnhd1	G	A	7: 105,341,882 (GRCm39)	S1227N	probably damaging	Het
Dpp8	T	A	9: 64,951,111 (GRCm39)	H182Q	probably benign	Het
Drosha	A	G	15: 12,883,280 (GRCm39)	K798E	probably damaging	Het
Gbp8	A	G	5: 105,165,754 (GRCm39)		probably benign	Het
Hectd1	A	G	12: 51,806,092 (GRCm39)	I1843T	probably damaging	Het
Kansl1l	T	C	1: 66,763,733 (GRCm39)	N772S	possibly damaging	Het
Lrrc37	A	G	11: 103,508,212 (GRCm39)		probably benign	Het
Ndst2	T	C	14: 20,774,552 (GRCm39)	R835G	probably benign	Het
Psme4	T	C	11: 30,773,145 (GRCm39)	V836A	possibly damaging	Het
Reln	T	C	5: 22,359,948 (GRCm39)	H192R	probably benign	Het
Tcf20	A	G	15: 82,740,276 (GRCm39)	F392L	probably damaging	Het
Ttc21a	T	C	9: 119,794,885 (GRCm39)	F1024L	probably damaging	Het
Vezf1	T	A	11: 87,964,470 (GRCm39)	C19*	probably null	Het
Wdr47	A	G	3: 108,526,050 (GRCm39)	N191S	probably benign	Het
Zfp7	T	G	15: 76,775,101 (GRCm39)		probably benign	Het
Zfp933	A	T	4: 147,910,778 (GRCm39)	C273S	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
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
R8535:Ptpn21	UTSW	12	98,646,285 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2015-04-16