Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Ptprn2'

41104

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

038357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 117276602 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 993 (N993T)

Ref Sequence

ENSEMBL: ENSMUSP00000064046 (fasta)

Gene Model

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

AlphaFold

P80560

Predicted Effect

probably benign
Transcript: ENSMUST00000070733
AA Change: N993T

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: N993T

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: ENSMUST00000186454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190132

Predicted Effect

probably benign
Transcript: ENSMUST00000190247

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553

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

Meta Mutation Damage Score

0.1426

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,207,881		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,292,324		probably benign	Het
Aco2	T	C	15: 81,903,465		probably benign	Het
Arap3	A	T	18: 37,996,707	S134T	probably benign	Het
Arsa	T	A	15: 89,474,336	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,648,449	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,284,562	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,266,841	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,478,485	I432L	probably benign	Het
Ccdc150	A	G	1: 54,356,691	I778V	probably benign	Het
Cd200r2	G	A	16: 44,909,674	V194I	possibly damaging	Het
Cep350	A	C	1: 155,911,218	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,545,144	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,702,213	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,888,134	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,373,056	N32K	probably benign	Het
Ctrb1	G	A	8: 111,686,637	R248*	probably null	Het
Cyp2d11	T	A	15: 82,391,757	M208L	probably benign	Het
Dbt	A	G	3: 116,543,829	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338	V270A	probably damaging	Het
Dis3l	T	A	9: 64,319,165	N361I	probably benign	Het
Dnah10	A	T	5: 124,763,076	D1315V	probably benign	Het
Dnah11	A	G	12: 118,126,886	F1080S	probably benign	Het
Dnm3	A	G	1: 162,407,361	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,414,409	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,646,383		probably benign	Het
Dst	C	A	1: 34,189,553	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,272,463	N168S	probably benign	Het
Fchsd2	A	G	7: 101,278,424	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,897,572	D76V	probably benign	Het
Frmd4a	T	C	2: 4,473,152	L48P	probably damaging	Het
Gimap6	T	A	6: 48,702,470	I211F	probably damaging	Het
Gm15130	A	G	2: 111,138,939		probably benign	Het
Gm43302	T	A	5: 105,290,900	I41F	probably damaging	Het
Gm5698	C	T	1: 30,977,533	V146I	probably benign	Het
Gpatch1	G	A	7: 35,287,227	S768L	probably damaging	Het
Grb14	T	G	2: 64,938,492		probably null	Het
Hnrnpd	T	C	5: 99,964,701	E222G	probably damaging	Het
Il4ra	C	T	7: 125,576,231	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,203,957	D610G	probably damaging	Het
Kcnh4	T	C	11: 100,757,800	H26R	probably benign	Het
Kctd2	T	G	11: 115,429,517		probably benign	Het
Khdrbs3	T	A	15: 68,995,037		probably benign	Het
Macf1	G	A	4: 123,432,150	Q3066*	probably null	Het
Mfn2	G	A	4: 147,885,445		probably benign	Het
Mmab	T	C	5: 114,436,465		probably benign	Het
Mrc1	T	C	2: 14,261,200	S310P	probably benign	Het
Mrps21	T	C	3: 95,862,885	Y44C	probably null	Het
Myh10	T	A	11: 68,699,491	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,601,703	D840G	probably damaging	Het
Neb	T	A	2: 52,306,530	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572		probably benign	Het
Npr2	G	T	4: 43,632,329	V49L	probably benign	Het
Ntsr2	T	C	12: 16,654,119	I207T	probably benign	Het
Nwd1	T	A	8: 72,711,856	S1552T	probably benign	Het
Oas3	T	A	5: 120,758,875	I894F	probably damaging	Het
Olfr169	T	A	16: 19,566,049	Y278F	probably damaging	Het
Olfr456	A	T	6: 42,486,935	M86K	probably benign	Het
Olfr736	T	A	14: 50,393,202	F149I	probably benign	Het
Olfr983	T	C	9: 40,092,687	N93S	possibly damaging	Het
Oprd1	A	G	4: 132,113,988	F220L	probably benign	Het
Pkd1l3	G	T	8: 109,620,471	G159C	unknown	Het
Plcb4	T	C	2: 135,961,769	S521P	probably benign	Het
Plcl1	A	T	1: 55,713,475	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,101,502	V65E	probably damaging	Het
Plekha7	T	C	7: 116,157,508	S640G	probably damaging	Het
Rabepk	T	C	2: 34,795,306	D26G	possibly damaging	Het
Reck	A	G	4: 43,930,936	N646D	probably damaging	Het
Rfx2	A	T	17: 56,786,736		probably benign	Het
Ripk2	G	A	4: 16,123,868	Q436*	probably null	Het
Ryr1	C	T	7: 29,005,567		probably benign	Het
Sema6b	A	G	17: 56,128,271	V324A	possibly damaging	Het
Sik2	C	A	9: 50,998,533	M73I	probably benign	Het
Slc39a6	T	C	18: 24,599,269	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,574,011	V520F	probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Spink14	T	C	18: 44,028,763	V2A	probably benign	Het
Sptan1	C	A	2: 30,003,667		probably benign	Het
Stab1	C	T	14: 31,157,070		probably benign	Het
Tbc1d17	C	T	7: 44,844,071		probably benign	Het
Tbcd	T	A	11: 121,503,764	L49*	probably null	Het
Tmco6	A	G	18: 36,742,107	T477A	probably benign	Het
Tmem208	C	T	8: 105,328,225	A53V	probably benign	Het
Tpp2	A	G	1: 43,981,748	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,201,733	N60I	probably damaging	Het
Ubqlnl	A	T	7: 104,148,938	W451R	probably damaging	Het
Usp53	G	T	3: 122,953,307	C363*	probably null	Het
Usp7	A	T	16: 8,691,418	H1017Q	probably benign	Het
Utp4	A	G	8: 106,922,898	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,471	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,279,239	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 20,889,736	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,927,090		probably benign	Het
Vmn2r77	T	C	7: 86,800,756	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,425,901	D189G	probably damaging	Het
Vps8	A	G	16: 21,477,523	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,961,103	Y104*	probably null	Het
Wnk4	A	T	11: 101,265,435	D43V	probably damaging	Het
Xab2	A	T	8: 3,613,880	N346K	probably damaging	Het
Xirp2	T	C	2: 67,512,140	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 30,092,535	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,225,200	S379P	probably benign	Het
Zfp458	G	A	13: 67,259,609	Q58*	probably null	Het
Zfp747	A	T	7: 127,374,600	S133T	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
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
R8716:Ptprn2	UTSW	12	117255548	missense	possibly damaging	0.73
R9235:Ptprn2	UTSW	12	117269651	critical splice donor site	probably null
R9605:Ptprn2	UTSW	12	117161658	missense	probably benign	0.13
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'- AGTACCCTCCATCATCAGGAGCAAG -3'
(R):5'- ATGACTAGCCACCTGCACTGACTG -3'

Sequencing Primer
(F):5'- acaccacacacacacacac -3'
(R):5'- ACCTGCACTGACTGTGGAG -3'

Posted On

2013-05-23