Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02452:Ptprn'

293698

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprn

Ensembl Gene

ENSMUSG00000026204

Gene Name

protein tyrosine phosphatase, receptor type, N

Synonyms

IA-2

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.581) question?

Stock #

IGL02452

Quality Score

Status

Chromosome

Chromosomal Location

75247027-75264502 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75258169 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 258 (H258L)

Ref Sequence

ENSEMBL: ENSMUSP00000027404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000185849] [ENSMUST00000186178] [ENSMUST00000189769]

Predicted Effect

probably benign
Transcript: ENSMUST00000027404
AA Change: H258L

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: H258L

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
RESP18	63	164	1.5e-51	SMART
low complexity region	174	201	N/A	INTRINSIC
low complexity region	217	235	N/A	INTRINSIC
low complexity region	360	368	N/A	INTRINSIC
Pfam:Receptor_IA-2	471	559	7e-33	PFAM
transmembrane domain	579	601	N/A	INTRINSIC
low complexity region	650	679	N/A	INTRINSIC
PTPc	710	973	1.2e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185849

SMART Domains

Protein: ENSMUSP00000140062
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	1	62	5e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186178

SMART Domains

Protein: ENSMUSP00000139925
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	27	128	1.5e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188401

Predicted Effect

probably benign
Transcript: ENSMUST00000189769

SMART Domains

Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	56	157	1.5e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191154

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 possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	C	A	3: 153,941,970	V11F	probably damaging	Het
Alk	A	T	17: 71,902,625	Y941*	probably null	Het
Armc4	C	T	18: 7,129,461	E906K	probably damaging	Het
Blm	A	T	7: 80,503,377		probably null	Het
Blvrb	T	C	7: 27,459,340	V55A	possibly damaging	Het
Cdh23	T	A	10: 60,317,942	T2288S	probably damaging	Het
Csnk1g1	T	A	9: 66,007,785	M242K	probably damaging	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Cyp2d26	T	A	15: 82,792,626	H173L	probably benign	Het
Cyp2g1	T	A	7: 26,811,446	S131T	probably benign	Het
Dupd1	G	A	14: 21,702,922	T52I	probably damaging	Het
Dzip3	T	A	16: 48,938,537		probably benign	Het
Espl1	T	C	15: 102,299,839	S427P	probably damaging	Het
Fasn	A	T	11: 120,808,180	D2424E	probably benign	Het
Flrt2	G	A	12: 95,779,483	M198I	probably benign	Het
Gen1	A	T	12: 11,242,575	S404R	probably benign	Het
Gm11596	A	T	11: 99,792,980	C105S	unknown	Het
Gm8765	A	T	13: 50,703,077	H917L	probably damaging	Het
Hdlbp	A	T	1: 93,417,511	V714D	probably damaging	Het
Igkv4-80	A	G	6: 69,016,832	V25A	probably benign	Het
Igkv8-27	C	T	6: 70,171,941	W76*	probably null	Het
Ikzf1	T	C	11: 11,748,545	L132P	probably damaging	Het
Kcna6	C	A	6: 126,738,480	C482F	possibly damaging	Het
Lhx9	A	T	1: 138,841,842	L47Q	probably damaging	Het
Lrp4	T	A	2: 91,474,002	D175E	probably damaging	Het
Lrrtm3	T	C	10: 64,088,036	K451E	probably damaging	Het
Mcm9	C	T	10: 53,541,557	V17M	probably damaging	Het
Mios	T	A	6: 8,222,492	S475R	probably benign	Het
Mmp24	C	T	2: 155,815,788	R533C	probably damaging	Het
Moxd1	C	T	10: 24,282,752	P435S	probably damaging	Het
Mta2	T	A	19: 8,950,306	I497N	probably benign	Het
Mtus2	T	C	5: 148,077,663	V422A	probably benign	Het
Ndufaf1	A	T	2: 119,656,426	F260Y	probably damaging	Het
Nfasc	C	T	1: 132,620,924		probably null	Het
Nid1	A	T	13: 13,508,720	T1128S	probably benign	Het
Olfr583	A	G	7: 103,051,931	D211G	probably benign	Het
Pcdh12	G	A	18: 38,281,693	P793L	probably benign	Het
Pclo	A	T	5: 14,676,966		probably benign	Het
Prpf31	T	A	7: 3,634,186	N161K	possibly damaging	Het
Prpf6	T	G	2: 181,649,085	N656K	probably benign	Het
Rab19	A	G	6: 39,389,798	T216A	probably benign	Het
Ryr3	A	C	2: 112,833,990	L1652W	probably damaging	Het
Six2	A	C	17: 85,685,378	S232R	possibly damaging	Het
Spag17	T	C	3: 100,027,391	V663A	probably benign	Het
Spag5	A	G	11: 78,304,623	N252S	probably benign	Het
Sptb	C	T	12: 76,609,036		probably null	Het
Synj1	A	G	16: 90,961,365		probably benign	Het
Tekt2	T	C	4: 126,324,852	H36R	possibly damaging	Het
Tjp1	A	T	7: 65,312,655	M1258K	probably damaging	Het
Txnrd3	T	C	6: 89,674,795	*502Q	probably null	Het

Other mutations in Ptprn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Ptprn	APN	1	75252270	missense	probably damaging	0.99
IGL01900:Ptprn	APN	1	75252248	splice site	probably benign
IGL02189:Ptprn	APN	1	75258495	missense	possibly damaging	0.73
IGL02282:Ptprn	APN	1	75253156	missense	probably damaging	1.00
IGL02865:Ptprn	APN	1	75262363	missense	probably damaging	1.00
IGL02926:Ptprn	APN	1	75247873	missense	possibly damaging	0.95
IGL03062:Ptprn	APN	1	75247873	missense	possibly damaging	0.95
Delusion	UTSW	1	75248166	missense	probably damaging	1.00
H8562:Ptprn	UTSW	1	75254620	missense	possibly damaging	0.66
R0051:Ptprn	UTSW	1	75252254	critical splice donor site	probably null
R0107:Ptprn	UTSW	1	75255712	missense	probably damaging	0.99
R0801:Ptprn	UTSW	1	75252265	missense	probably damaging	1.00
R0865:Ptprn	UTSW	1	75248138	splice site	probably null
R1120:Ptprn	UTSW	1	75258181	missense	probably benign	0.00
R1534:Ptprn	UTSW	1	75257943	critical splice donor site	probably null
R1740:Ptprn	UTSW	1	75262050	missense	probably damaging	1.00
R1857:Ptprn	UTSW	1	75247905	missense	possibly damaging	0.64
R1927:Ptprn	UTSW	1	75254122	missense	probably benign	0.00
R1974:Ptprn	UTSW	1	75254820	splice site	probably null
R2071:Ptprn	UTSW	1	75255144	missense	probably damaging	1.00
R2223:Ptprn	UTSW	1	75257937	unclassified	probably benign
R3714:Ptprn	UTSW	1	75252767	splice site	probably null
R4617:Ptprn	UTSW	1	75252287	missense	possibly damaging	0.74
R4832:Ptprn	UTSW	1	75258265	missense	probably benign	0.37
R5503:Ptprn	UTSW	1	75251875	missense	probably damaging	1.00
R5926:Ptprn	UTSW	1	75254598	missense	probably damaging	1.00
R6217:Ptprn	UTSW	1	75248166	missense	probably damaging	1.00
R6419:Ptprn	UTSW	1	75264037	missense	probably benign	0.10
R6793:Ptprn	UTSW	1	75258142	missense	probably benign	0.38
R6964:Ptprn	UTSW	1	75260649	missense	possibly damaging	0.83
R7071:Ptprn	UTSW	1	75260619	missense	possibly damaging	0.82
R7680:Ptprn	UTSW	1	75247893	missense	probably benign	0.16
R7777:Ptprn	UTSW	1	75252302	missense	possibly damaging	0.54
R7883:Ptprn	UTSW	1	75262363	missense	probably damaging	1.00
R8233:Ptprn	UTSW	1	75253152	missense	probably damaging	1.00
R8243:Ptprn	UTSW	1	75252535	missense	probably damaging	0.99
X0017:Ptprn	UTSW	1	75253265	missense	probably benign	0.15
Z1088:Ptprn	UTSW	1	75260620	missense	possibly damaging	0.70
Z1176:Ptprn	UTSW	1	75251818	missense	probably damaging	0.99
Z1177:Ptprn	UTSW	1	75258037	missense	probably benign	0.04

Posted On

2015-04-16