Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00093:Ptpn21'

1059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn21

Ensembl Gene

ENSMUSG00000021009

Gene Name

protein tyrosine phosphatase, non-receptor type 21

Synonyms

PTPD1, PTPRL10

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

IGL00093

Quality Score

Status

Chromosome

Chromosomal Location

98676741-98737405 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98680468 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 967 (W967R)

Ref Sequence

ENSEMBL: ENSMUSP00000126975 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085116
AA Change: W967R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082197
Gene: ENSMUSG00000021009
AA Change: W967R

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: W967R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126975
Gene: ENSMUSG00000021009
AA Change: W967R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223321

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	T	C	16: 21,653,560	D60G	probably damaging	Het
9230110C19Rik	A	G	9: 8,022,432	V263A	probably benign	Het
Abca2	T	A	2: 25,445,963		probably null	Het
Adamts14	C	T	10: 61,229,676	R348H	probably damaging	Het
Aimp2	A	T	5: 143,906,706	I22N	probably damaging	Het
Cacna1c	A	G	6: 118,676,444		probably benign	Het
Cfap221	A	T	1: 119,932,845	Y684N	possibly damaging	Het
Cldn6	T	A	17: 23,681,724		probably benign	Het
Copb2	A	G	9: 98,568,077	M30V	probably benign	Het
Cyhr1	A	G	15: 76,646,538	I194T	probably damaging	Het
Dcaf17	G	A	2: 71,078,159	E243K	probably benign	Het
Dhx35	T	C	2: 158,827,916	Y257H	probably damaging	Het
Dzank1	A	T	2: 144,481,725	Y600*	probably null	Het
Fam208a	T	G	14: 27,448,206	L364R	probably damaging	Het
Flvcr1	T	A	1: 191,015,489	R201*	probably null	Het
Fstl4	G	A	11: 53,186,275	V620I	probably benign	Het
Gm21976	G	A	13: 98,302,561	V20M	probably benign	Het
Ifi208	T	C	1: 173,679,038		probably null	Het
Kdm4c	T	C	4: 74,345,501	V674A	probably benign	Het
Lig1	T	A	7: 13,301,452	Y612*	probably null	Het
Marco	A	G	1: 120,485,703	V295A	probably benign	Het
Myo5c	T	C	9: 75,242,880		probably benign	Het
Olfr394	A	G	11: 73,888,249	L41P	probably damaging	Het
Olfr643	T	C	7: 104,059,416	Y62C	probably damaging	Het
Olfr815	T	A	10: 129,902,659	D17V	possibly damaging	Het
Pkd1l1	A	G	11: 8,961,971	M245T	unknown	Het
Pomt1	A	G	2: 32,241,772	I158V	probably benign	Het
Rrp12	A	T	19: 41,887,094	M270K	possibly damaging	Het
Spats2	A	G	15: 99,180,593	E179G	possibly damaging	Het
Tapbp	T	C	17: 33,919,892	V11A	probably benign	Het
Tonsl	A	G	15: 76,638,496	F185S	possibly damaging	Het
Trpm1	A	G	7: 64,243,450	I901V	probably damaging	Het
Tulp2	A	G	7: 45,521,908	N371S	probably damaging	Het
Unc5d	A	T	8: 28,719,826	V433D	probably damaging	Het
Wasf3	G	A	5: 146,455,651	R177Q	probably damaging	Het
Wdr63	C	T	3: 146,083,004	G274E	probably benign	Het
Zfp715	A	T	7: 43,299,749	H262Q	possibly damaging	Het

Other mutations in Ptpn21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00576:Ptpn21	APN	12	98733601	missense	probably damaging	1.00
IGL00577:Ptpn21	APN	12	98733601	missense	probably damaging	1.00
IGL00580:Ptpn21	APN	12	98733601	missense	probably damaging	1.00
IGL00583:Ptpn21	APN	12	98733601	missense	probably damaging	1.00
IGL00773:Ptpn21	APN	12	98688313	missense	probably benign	0.00
IGL00780:Ptpn21	APN	12	98680371	missense	probably damaging	1.00
IGL01516:Ptpn21	APN	12	98715189	missense	probably damaging	1.00
IGL01616:Ptpn21	APN	12	98680013	missense	probably damaging	1.00
IGL01939:Ptpn21	APN	12	98689161	missense	probably damaging	0.96
IGL02237:Ptpn21	APN	12	98705092	critical splice donor site	probably null
IGL02512:Ptpn21	APN	12	98679392	missense	probably benign	0.00
IGL02852:Ptpn21	APN	12	98715195	critical splice acceptor site	probably null
IGL02894:Ptpn21	APN	12	98689632	splice site	probably benign
IGL03024:Ptpn21	APN	12	98680056	missense	probably benign
IGL03220:Ptpn21	APN	12	98678623	missense	probably damaging	1.00
R0144:Ptpn21	UTSW	12	98688609	missense	probably benign	0.01
R0472:Ptpn21	UTSW	12	98704240	splice site	probably benign
R0675:Ptpn21	UTSW	12	98688216	missense	probably benign	0.16
R0771:Ptpn21	UTSW	12	98689080	missense	probably damaging	1.00
R1434:Ptpn21	UTSW	12	98688590	missense	probably damaging	1.00
R1470:Ptpn21	UTSW	12	98688476	missense	probably benign
R1470:Ptpn21	UTSW	12	98688476	missense	probably benign
R1837:Ptpn21	UTSW	12	98733626	missense	probably damaging	0.99
R1897:Ptpn21	UTSW	12	98680405	splice site	probably null
R2048:Ptpn21	UTSW	12	98689526	missense	possibly damaging	0.94
R2376:Ptpn21	UTSW	12	98688314	missense	possibly damaging	0.62
R3709:Ptpn21	UTSW	12	98688541	missense	probably benign
R4197:Ptpn21	UTSW	12	98680138	missense	probably damaging	1.00
R4283:Ptpn21	UTSW	12	98733475	missense	probably damaging	0.99
R4368:Ptpn21	UTSW	12	98678593	missense	probably damaging	1.00
R4397:Ptpn21	UTSW	12	98688248	missense	probably damaging	1.00
R4397:Ptpn21	UTSW	12	98715060	missense	probably damaging	0.98
R4703:Ptpn21	UTSW	12	98679392	missense	probably benign	0.00
R4737:Ptpn21	UTSW	12	98708844	missense	probably benign	0.03
R4829:Ptpn21	UTSW	12	98689296	missense	probably damaging	1.00
R4926:Ptpn21	UTSW	12	98715195	critical splice acceptor site	probably null
R4974:Ptpn21	UTSW	12	98680103	missense	probably damaging	1.00
R5022:Ptpn21	UTSW	12	98679407	missense	probably damaging	1.00
R5057:Ptpn21	UTSW	12	98679407	missense	probably damaging	1.00
R5395:Ptpn21	UTSW	12	98715117	missense	probably damaging	1.00
R5608:Ptpn21	UTSW	12	98688777	missense	probably benign	0.00
R5741:Ptpn21	UTSW	12	98679289	missense	probably damaging	1.00
R5785:Ptpn21	UTSW	12	98682550	missense	probably damaging	0.99
R5959:Ptpn21	UTSW	12	98708889	splice site	probably null
R5968:Ptpn21	UTSW	12	98710890	missense	probably damaging	1.00
R5984:Ptpn21	UTSW	12	98689076	missense	probably damaging	1.00
R6005:Ptpn21	UTSW	12	98678552	makesense	probably null
R6181:Ptpn21	UTSW	12	98699999	missense	probably damaging	0.99
R6226:Ptpn21	UTSW	12	98680116	missense	probably benign	0.24
R6226:Ptpn21	UTSW	12	98715172	missense	probably damaging	1.00
R6317:Ptpn21	UTSW	12	98689262	missense	probably damaging	1.00
R6370:Ptpn21	UTSW	12	98689034	missense	possibly damaging	0.86
R6485:Ptpn21	UTSW	12	98698872	nonsense	probably null
R6894:Ptpn21	UTSW	12	98715181	missense	probably damaging	1.00
R7122:Ptpn21	UTSW	12	98688912	missense	probably damaging	0.99
R7232:Ptpn21	UTSW	12	98688737	missense	probably benign	0.17
R7289:Ptpn21	UTSW	12	98704191	missense	probably benign	0.35
R7327:Ptpn21	UTSW	12	98680101	missense	probably damaging	1.00
R7474:Ptpn21	UTSW	12	98737363	critical splice donor site	probably null
R7748:Ptpn21	UTSW	12	98688772	missense	probably benign	0.01
R7816:Ptpn21	UTSW	12	98682532	missense	probably damaging	1.00
R7867:Ptpn21	UTSW	12	98705176	missense	probably damaging	1.00
R7878:Ptpn21	UTSW	12	98715128	missense	probably damaging	1.00
R7911:Ptpn21	UTSW	12	98688842	missense	probably damaging	0.99
R8100:Ptpn21	UTSW	12	98682622	missense	possibly damaging	0.61
R8199:Ptpn21	UTSW	12	98678582	missense	possibly damaging	0.92
R8272:Ptpn21	UTSW	12	98688530	missense	probably benign
Z1177:Ptpn21	UTSW	12	98688458	missense	probably benign	0.05

Posted On

2011-07-12