Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01788:Ptprn2'

155127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprn2

Ensembl Gene

ENSMUSG00000056553

Gene Name

protein tyrosine phosphatase, receptor type, N polypeptide 2

Synonyms

phogrin, 4930425H11Rik, IA-2 beta, PTP-NP, IA-2beta

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.292) question?

Stock #

IGL01788

Quality Score

Status

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116900987 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 541 (T541A)

Ref Sequence

ENSEMBL: ENSMUSP00000139978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070733] [ENSMUST00000190247]

Predicted Effect

probably benign
Transcript: ENSMUST00000070733
AA Change: T541A

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: T541A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
RESP18	58	157	1.9e-40	SMART
low complexity region	393	426	N/A	INTRINSIC
Pfam:Receptor_IA-2	495	583	1.5e-35	PFAM
low complexity region	687	707	N/A	INTRINSIC
PTPc	730	993	4.42e-119	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189009

Predicted Effect

probably damaging
Transcript: ENSMUST00000190247
AA Change: T541A

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

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: T541A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
RESP18	58	157	1.9e-40	SMART
low complexity region	393	426	N/A	INTRINSIC
Pfam:Receptor_IA-2	494	584	2.5e-43	PFAM
transmembrane domain	602	624	N/A	INTRINSIC
low complexity region	687	707	N/A	INTRINSIC
PTPc	730	932	8.81e-64	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with sequence similarity to receptor-like protein tyrosine phosphatases. However, tyrosine phosphatase activity has not been experimentally validated for this protein. Studies of the rat ortholog suggest that the encoded protein may instead function as a phosphatidylinositol phosphatase with the ability to dephosphorylate phosphatidylinositol 3-phosphate and phosphatidylinositol 4,5-diphosphate, and this function may be involved in the regulation of insulin secretion. This protein has been identified as an autoantigen in insulin-dependent diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygous null mice display impaired glucose tolerance but normal fasting and non-fasting blood glucose and insulin levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230009I02Rik	T	G	11: 51,091,715		noncoding transcript	Het
Acp6	A	G	3: 97,165,882	T80A	probably damaging	Het
Adamtsl5	T	C	10: 80,344,923	T102A	probably benign	Het
Adcy6	C	A	15: 98,596,519	E812*	probably null	Het
Apol6	G	A	15: 77,051,016	V162I	possibly damaging	Het
Atp6v1h	T	A	1: 5,149,983	M396K	possibly damaging	Het
B3gnt8	A	G	7: 25,629,188	T348A	probably damaging	Het
Cgnl1	A	G	9: 71,655,390	V869A	probably benign	Het
Dcaf5	A	T	12: 80,348,324	I357N	probably damaging	Het
Dennd4a	A	G	9: 64,842,621	I165V	probably benign	Het
Dlgap2	T	A	8: 14,843,631	I982K	probably benign	Het
Dopey1	A	T	9: 86,531,719	H1891L	probably benign	Het
Fhad1	A	C	4: 141,932,802	S65R	probably benign	Het
Fn1	A	G	1: 71,613,837	I1331T	probably damaging	Het
Fto	A	T	8: 91,409,731	Y211F	probably benign	Het
Gm3278	A	C	14: 4,893,332	R60S	probably benign	Het
Ifna9	A	G	4: 88,591,860	S176P	probably damaging	Het
Klk1	T	C	7: 44,228,983	I189T	probably benign	Het
Mcph1	G	A	8: 18,632,403	G519R	probably damaging	Het
Mcph1	G	A	8: 18,632,404	G519E	probably damaging	Het
N4bp1	A	T	8: 86,860,996	V438E	probably benign	Het
Ncapg	T	A	5: 45,671,081	V58E	probably damaging	Het
Nid2	T	A	14: 19,807,979	S1054T	probably damaging	Het
Nlrp4a	A	T	7: 26,454,067	Y681F	probably benign	Het
Olfr1308	T	C	2: 111,961,007	D22G	probably benign	Het
Olfr1442	G	A	19: 12,675,078	R291K	probably damaging	Het
Olfr603	C	A	7: 103,383,563	M146I	probably benign	Het
Olfr726	A	G	14: 50,084,502	Y60H	probably damaging	Het
Papln	A	T	12: 83,775,462	T364S	probably benign	Het
Pcdh18	C	A	3: 49,755,922	E315*	probably null	Het
Pmel	G	A	10: 128,717,832	R445Q	probably damaging	Het
Ppp1r12b	C	T	1: 134,893,507	V182I	possibly damaging	Het
Rbl1	A	T	2: 157,163,656	N813K	probably benign	Het
Sash1	C	A	10: 8,733,646	R713L	probably benign	Het
Slc13a1	T	G	6: 24,134,372	T171P	probably damaging	Het
Slc18b1	G	T	10: 23,826,001	E407D	probably damaging	Het
Slc2a6	G	A	2: 27,024,215	Q297*	probably null	Het
Vmn1r209	T	C	13: 22,805,662	H286R	probably damaging	Het
Vmn1r28	C	A	6: 58,265,537	H122N	probably benign	Het
Wfs1	A	G	5: 36,968,636	Y304H	probably benign	Het
Zfp512b	A	G	2: 181,588,763	S445P	possibly damaging	Het

Other mutations in Ptprn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Ptprn2	APN	12	116841388	missense	probably benign	0.02
IGL02172:Ptprn2	APN	12	116873697	splice site	probably benign
IGL02339:Ptprn2	APN	12	116722104	missense	probably damaging	1.00
IGL02706:Ptprn2	APN	12	116888898	missense	probably damaging	0.96
IGL03018:Ptprn2	APN	12	117211943	missense	probably damaging	1.00
IGL03267:Ptprn2	APN	12	116876344	nonsense	probably null
BB001:Ptprn2	UTSW	12	116841264	missense	probably benign	0.00
BB011:Ptprn2	UTSW	12	116841264	missense	probably benign	0.00
IGL03014:Ptprn2	UTSW	12	117248688	missense	probably damaging	1.00
R0066:Ptprn2	UTSW	12	117276602	missense	probably benign	0.07
R0066:Ptprn2	UTSW	12	117276602	missense	probably benign	0.07
R0115:Ptprn2	UTSW	12	117211846	splice site	probably benign
R0131:Ptprn2	UTSW	12	116722091	missense	probably damaging	1.00
R0131:Ptprn2	UTSW	12	116722091	missense	probably damaging	1.00
R0132:Ptprn2	UTSW	12	116722091	missense	probably damaging	1.00
R0481:Ptprn2	UTSW	12	117211846	splice site	probably benign
R0694:Ptprn2	UTSW	12	116824355	missense	possibly damaging	0.69
R0698:Ptprn2	UTSW	12	116722130	nonsense	probably null
R0746:Ptprn2	UTSW	12	116901017	missense	probably benign	0.00
R1127:Ptprn2	UTSW	12	117212008	splice site	probably null
R1443:Ptprn2	UTSW	12	117253615	missense	probably damaging	1.00
R1508:Ptprn2	UTSW	12	117184722	missense	probably damaging	1.00
R1664:Ptprn2	UTSW	12	117161709	missense	probably damaging	0.99
R1670:Ptprn2	UTSW	12	116722172	missense	possibly damaging	0.64
R1749:Ptprn2	UTSW	12	116580428	missense	probably benign	0.00
R2075:Ptprn2	UTSW	12	117247717	missense	probably benign	0.01
R3054:Ptprn2	UTSW	12	116722133	missense	probably damaging	1.00
R3107:Ptprn2	UTSW	12	116876180	missense	probably benign	0.04
R3109:Ptprn2	UTSW	12	116876180	missense	probably benign	0.04
R3552:Ptprn2	UTSW	12	116888877	missense	probably benign	0.00
R4193:Ptprn2	UTSW	12	116901008	missense	probably benign	0.01
R4523:Ptprn2	UTSW	12	116876000	missense	probably damaging	1.00
R4706:Ptprn2	UTSW	12	116872094	missense	probably benign	0.02
R4719:Ptprn2	UTSW	12	116824396	missense	possibly damaging	0.95
R4726:Ptprn2	UTSW	12	117247773	nonsense	probably null
R4872:Ptprn2	UTSW	12	117161694	missense	probably damaging	1.00
R4891:Ptprn2	UTSW	12	117233365	splice site	probably null
R4970:Ptprn2	UTSW	12	117276595	missense	probably damaging	1.00
R5208:Ptprn2	UTSW	12	116858928	missense	probably damaging	1.00
R5287:Ptprn2	UTSW	12	117211862	missense	probably damaging	1.00
R5419:Ptprn2	UTSW	12	117184647	missense	probably damaging	0.99
R6035:Ptprn2	UTSW	12	117255595	missense	probably damaging	1.00
R6035:Ptprn2	UTSW	12	117255595	missense	probably damaging	1.00
R6180:Ptprn2	UTSW	12	116859119	missense	probably benign	0.05
R6277:Ptprn2	UTSW	12	116876180	missense	probably benign	0.04
R6465:Ptprn2	UTSW	12	117269589	missense	probably damaging	0.96
R6488:Ptprn2	UTSW	12	116872038	missense	probably benign	0.13
R6555:Ptprn2	UTSW	12	117227200	missense	probably damaging	1.00
R6908:Ptprn2	UTSW	12	116888888	missense	probably benign	0.06
R7120:Ptprn2	UTSW	12	116872056	missense	probably benign	0.01
R7229:Ptprn2	UTSW	12	117227225	splice site	probably null
R7237:Ptprn2	UTSW	12	117161727	missense	probably benign	0.03
R7304:Ptprn2	UTSW	12	117248544	missense	probably damaging	1.00
R7355:Ptprn2	UTSW	12	116858951	missense	probably benign
R7460:Ptprn2	UTSW	12	117248681	missense	probably benign	0.05
R7577:Ptprn2	UTSW	12	116485866	start codon destroyed	probably null
R7658:Ptprn2	UTSW	12	116722119	missense	probably benign	0.01
R7666:Ptprn2	UTSW	12	116841320	missense	probably benign	0.10
R7924:Ptprn2	UTSW	12	116841264	missense	probably benign	0.00
R8219:Ptprn2	UTSW	12	117184737	missense	probably benign	0.30
X0066:Ptprn2	UTSW	12	117161760	missense	probably damaging	1.00
X0066:Ptprn2	UTSW	12	117184740	missense	probably benign	0.16

Posted On

2014-02-04