Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Ptprn2'

726454

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117161658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 604 (L604P)

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: L604P

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: L604P

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

probably damaging
Transcript: ENSMUST00000190247
AA Change: L604P

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

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: L604P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	A	G	16: 13,677,223	D62G	probably benign	Het
6430548M08Rik	G	A	8: 120,145,641	V103I	possibly damaging	Het
Aatk	T	C	11: 120,011,383	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,799,159	T290A	probably benign	Het
Acaca	C	T	11: 84,293,016	T1240I	probably benign	Het
Adgre1	A	G	17: 57,411,083	N365S	probably benign	Het
Adipor1	A	G	1: 134,424,815	D108G	probably damaging	Het
Aebp2	A	G	6: 140,648,010	Q462R	probably damaging	Het
Arhgef4	A	G	1: 34,722,664	T334A	unknown	Het
Art5	T	C	7: 102,097,205	E280G	probably benign	Het
BC067074	T	C	13: 113,319,969	S850P		Het
Bloc1s3	A	G	7: 19,507,532	S24P	possibly damaging	Het
C2	T	A	17: 34,862,982	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,842,834	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,337,757	T355A	probably benign	Het
Cd19	T	A	7: 126,410,885	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,936,591	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,759,595	V848M	probably damaging	Het
Chd8	A	T	14: 52,219,598	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,245,764	T217I	probably damaging	Het
Cldn1	A	T	16: 26,363,174	I95N	probably damaging	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Cluh	C	T	11: 74,667,946	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187	Q640L	probably benign	Het
Cyp2c40	A	T	19: 39,777,999	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,790,471	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,256,844	S596P	probably benign	Het
Dagla	A	T	19: 10,255,689	V448D	probably damaging	Het
Ddx59	A	T	1: 136,416,856	E88D	probably benign	Het
Dock1	T	A	7: 134,782,412	F671I	possibly damaging	Het
Dtna	T	A	18: 23,631,397	V541D	probably damaging	Het
Eef2k	T	C	7: 120,891,947	F552S	probably damaging	Het
Erbb2	T	C	11: 98,420,920	V94A	possibly damaging	Het
Etl4	A	T	2: 20,766,534	I607F	possibly damaging	Het
Ets2	G	T	16: 95,715,077	E234*	probably null	Het
Fbp1	A	C	13: 62,871,209	V175G	probably damaging	Het
Fmn2	C	T	1: 174,608,628	Q722*	probably null	Het
Fnip1	G	T	11: 54,490,887	R288L	probably benign	Het
Ghr	G	A	15: 3,333,511	P160S	probably damaging	Het
Glipr1	A	G	10: 111,996,896	S46P	probably damaging	Het
Gm4869	A	T	5: 140,469,706	T356S	probably benign	Het
Kif9	G	A	9: 110,517,642	R616H	probably benign	Het
Krt87	G	T	15: 101,438,603	C56*	probably null	Het
Ldlr	A	G	9: 21,735,330	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,737,217	D998V	probably benign	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Mrc1	A	G	2: 14,319,299	N1149S	probably benign	Het
Myo1c	T	A	11: 75,669,073	V661E	probably benign	Het
N4bp2	T	C	5: 65,806,536	S643P	probably benign	Het
Nbl1	T	A	4: 139,085,297	T75S	probably benign	Het
Ndn	C	T	7: 62,348,589	P61L	possibly damaging	Het
Nqo2	T	A	13: 33,972,378	V25E	possibly damaging	Het
Olfr110	T	A	17: 37,499,440	I263N	probably damaging	Het
Olfr1148	T	G	2: 87,833,134	F32V	probably benign	Het
Olfr870	A	G	9: 20,170,797	V258A	probably damaging	Het
Oma1	G	T	4: 103,353,529	V411L	possibly damaging	Het
Osgin2	G	T	4: 15,998,427	H398Q	probably damaging	Het
Pepd	A	C	7: 35,043,793	D419A	probably benign	Het
Pikfyve	A	T	1: 65,264,402	S1694C	probably benign	Het
Pirb	G	A	7: 3,717,618	R294C	possibly damaging	Het
Plec	A	T	15: 76,181,013	L1619Q	unknown	Het
Polq	A	G	16: 37,022,811	I236V	probably benign	Het
Prkag3	T	G	1: 74,747,219	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,310,844	M136L	probably benign	Het
Rab6b	A	T	9: 103,140,402	T31S	probably benign	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Ryr3	A	T	2: 112,661,621	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,435,219	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,319,834	N416S	probably damaging	Het
Sik3	T	A	9: 46,208,819	H735Q	probably benign	Het
Slain1	A	C	14: 103,664,676	T60P		Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,722,925	Y643F	probably damaging	Het
Sox30	A	G	11: 45,984,813	N464S	possibly damaging	Het
Spata5	C	T	3: 37,451,781	P670S	probably damaging	Het
Spta1	A	G	1: 174,208,314	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,852,251	D135G	probably damaging	Het
Stat5b	T	A	11: 100,808,450	H25L	possibly damaging	Het
Synj2	A	G	17: 6,013,519	I513V	probably benign	Het
Syt11	T	A	3: 88,762,018	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,286,007	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,645,776	D443E	probably benign	Het
Traf6	G	T	2: 101,694,280	C235F	probably damaging	Het
Treh	A	G	9: 44,681,119	D47G	probably damaging	Het
Trpc4	C	A	3: 54,318,129	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,473,590	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,205,342	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,234,805		probably null	Het
Usp25	A	T	16: 77,077,158	I541F	probably damaging	Het
Xirp1	A	T	9: 120,018,208	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,464,029	E302G	probably damaging	Het
Zfp648	A	T	1: 154,204,364	T90S	probably benign	Het
Zfp84	A	G	7: 29,776,839	T319A	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
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
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
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'- AACTTCTTTGCACGTGTGTC -3'
(R):5'- CTCTCAAATCAAGTTTGGCAAATCC -3'

Sequencing Primer
(F):5'- TGTGTCCCTGCACAGCC -3'
(R):5'- TGGCAAATCCAAGGAGAAAACTTTG -3'

Posted On

2022-10-06