Mutagenetix > Incidental Mutations

Incidental Mutation 'R4193:Ptprn2'

318436

Institutional Source

Beutler Lab

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

MMRRC Submission

041024-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116901008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 548 (I548V)

Ref Sequence

ENSEMBL: ENSMUSP00000139978 (fasta)

Gene Model

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

AlphaFold

P80560

Predicted Effect

probably benign
Transcript: ENSMUST00000070733
AA Change: I548V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: I548V

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 benign
Transcript: ENSMUST00000190247
AA Change: I548V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: I548V

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 36,096,579	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,715,068		probably null	Het
Acap3	A	G	4: 155,901,777	T285A	probably benign	Het
Adam20	A	T	8: 40,795,315	N154I	probably damaging	Het
Adamts8	A	T	9: 30,959,308	D693V	probably damaging	Het
Ak9	A	G	10: 41,335,945	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,743,103	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,928,705	L6F	probably damaging	Het
Bco1	C	T	8: 117,113,469	T242M	probably damaging	Het
Btla	A	G	16: 45,250,482	N268S	probably benign	Het
Capn9	A	G	8: 124,600,486	S292G	probably null	Het
Col7a1	G	A	9: 108,956,672	S403N	unknown	Het
Ctps	A	G	4: 120,548,138	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,011,348	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,447,334	K3356R	probably benign	Het
Dpf2	G	A	19: 5,907,016	R60*	probably null	Het
Eif3h	A	T	15: 51,799,299	V117E	probably damaging	Het
Fam234a	A	T	17: 26,213,860	L467Q	probably damaging	Het
Fez1	T	A	9: 36,843,727	S7R	probably damaging	Het
Fh1	T	A	1: 175,614,841	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,007,998	P210S	probably benign	Het
Gfm1	T	G	3: 67,431,720	I52S	probably damaging	Het
Gm13089	A	T	4: 143,698,333	L180Q	probably damaging	Het
Gm281	C	T	14: 13,914,416	V9I	probably benign	Het
Gm6729	A	T	10: 86,540,619		noncoding transcript	Het
Gpr152	T	G	19: 4,142,907	L149R	probably damaging	Het
Hist3h2ba	T	A	11: 58,949,241	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,404,344	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,896,383	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,365,048	E443G	probably damaging	Het
Impg2	A	G	16: 56,268,411	D1100G	probably benign	Het
Itga2	G	A	13: 114,886,649	R56*	probably null	Het
Itga2b	A	G	11: 102,469,685	S10P	probably benign	Het
Jmjd1c	C	T	10: 67,096,681		probably benign	Het
Kdm7a	T	G	6: 39,169,096	K299T	probably damaging	Het
Large2	T	A	2: 92,365,359	D632V	probably damaging	Het
Lrp2	C	T	2: 69,467,143	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,447,675	D213E	probably benign	Het
Nkapl	T	C	13: 21,467,342	Q367R	probably benign	Het
Nwd2	T	C	5: 63,807,465	L1464P	probably damaging	Het
Olfr1016	C	T	2: 85,800,018	C84Y	probably benign	Het
Olfr1037	T	A	2: 86,085,700	I26F	probably benign	Het
Olfr1385	A	C	11: 49,495,307	Y258S	probably damaging	Het
Olfr19	A	T	16: 16,673,647	D111E	possibly damaging	Het
Olfr384	C	G	11: 73,603,417	T279R	probably damaging	Het
P2ry2	A	G	7: 100,998,450	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,267,146	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Pcsk6	T	C	7: 66,025,308	S476P	probably damaging	Het
Phactr3	T	A	2: 178,283,152	H293Q	probably damaging	Het
Pias1	T	C	9: 62,952,004	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,373,118	T286A	probably benign	Het
Prkag2	A	C	5: 24,878,760	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,776,278	M94L	probably benign	Het
Prodh	C	T	16: 18,073,640	V480I	probably benign	Het
Ptprr	T	C	10: 116,252,864	W307R	probably damaging	Het
Rab29	T	C	1: 131,869,962	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,342,573	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,971,603	A209V	probably damaging	Het
Senp2	G	T	16: 22,046,667	W580L	probably damaging	Het
Sept4	A	T	11: 87,583,316		probably null	Het
Slc17a5	C	A	9: 78,559,106	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,398,706	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,301,221	H274L	probably damaging	Het
Suco	A	T	1: 161,863,959	D43E	probably benign	Het
Tacr2	T	A	10: 62,253,179	I121N	probably damaging	Het
Tanc2	G	A	11: 105,914,062		probably benign	Het
Tbl1xr1	T	C	3: 22,200,358	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,851,341	L611*	probably null	Het
Tgfbr2	T	C	9: 116,109,941	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,289,304	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,479,247	C91S	probably damaging	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,748,248	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,428,239	F168L	probably benign	Het
Zfp945	C	T	17: 22,851,170		probably benign	Het

Other mutations in Ptprn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01695:Ptprn2	APN	12	116841388	missense	probably benign	0.02
IGL01788:Ptprn2	APN	12	116900987	missense	probably damaging	0.98
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
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
R8716:Ptprn2	UTSW	12	117255548	missense	possibly damaging	0.73
R9235:Ptprn2	UTSW	12	117269651	critical splice donor site	probably null
X0066:Ptprn2	UTSW	12	117161760	missense	probably damaging	1.00
X0066:Ptprn2	UTSW	12	117184740	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGAAAACAGAGCCCTAGTATCC -3'
(R):5'- CTCTGCCATGAACTGCTGTG -3'

Sequencing Primer
(F):5'- GTATCCAAAAGAAACACCACGAGGG -3'
(R):5'- CTGCCATGAACTGCTGTGAACATG -3'

Posted On

2015-06-10