Mutagenetix > Incidental Mutation

Incidental Mutation 'R7577:Ptprn2'

586533

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

045662-MU

Accession Numbers

Essential gene?

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

Stock #

R7577 (G1)

Quality Score

93.0077

Status

Not validated

Chromosome

Chromosomal Location

116485720-117276849 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 116485866 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

Ref Sequence

ENSEMBL: ENSMUSP00000064046 (fasta)

Gene Model

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

AlphaFold

P80560

Predicted Effect

probably null
Transcript: ENSMUST00000070733
AA Change: M1T

SMART Domains

Protein: ENSMUSP00000064046
Gene: ENSMUSG00000056553
AA Change: M1T

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 null
Transcript: ENSMUST00000190247
AA Change: M1T

SMART Domains

Protein: ENSMUSP00000139978
Gene: ENSMUSG00000056553
AA Change: M1T

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	T	10: 79,066,491	V664M	possibly damaging	Het
4931423N10Rik	A	G	2: 23,207,825	Y5C	probably benign	Het
9530053A07Rik	A	G	7: 28,154,423	D1604G	possibly damaging	Het
Abca4	A	G	3: 122,174,014	T2238A	probably damaging	Het
Adss	G	A	1: 177,767,697	Q426*	probably null	Het
Afap1l2	T	C	19: 56,944,767	E71G	probably damaging	Het
Afg1l	T	C	10: 42,318,611	D395G	probably damaging	Het
Akap9	C	G	5: 3,968,745	H1109D	probably benign	Het
Alms1	A	G	6: 85,615,320	T385A	probably benign	Het
Ank3	C	T	10: 69,992,572	T2357I		Het
Ankfn1	T	A	11: 89,503,971	S263C	probably benign	Het
Azin1	C	T	15: 38,501,421	V29I	probably benign	Het
B3galt2	T	C	1: 143,647,304	Y393H	probably damaging	Het
Cnbd2	G	T	2: 156,328,376	R127L	possibly damaging	Het
Col6a5	A	T	9: 105,864,688	L2344*	probably null	Het
Csn3	T	C	5: 87,929,962	V109A	not run	Het
Cxcr2	C	G	1: 74,158,915	N189K	probably benign	Het
Dclre1a	A	G	19: 56,529,533	F1038S	probably damaging	Het
Ddx21	T	C	10: 62,590,670	Q468R	probably benign	Het
Dlx6	A	G	6: 6,863,423	D15G	probably damaging	Het
Dnajb14	T	C	3: 137,904,797	V262A	possibly damaging	Het
Dpp7	A	G	2: 25,355,591	V161A	probably benign	Het
Enkur	C	T	2: 21,205,102	S16N	probably benign	Het
Ensa	C	A	3: 95,628,645	H96Q	probably damaging	Het
Ero1lb	T	G	13: 12,602,365	C393G	probably damaging	Het
Fam129a	T	A	1: 151,718,312	V916E	probably benign	Het
Fam173b	C	T	15: 31,606,040	A48V	probably damaging	Het
Fbxo3	T	C	2: 104,051,198	F292L	possibly damaging	Het
Fos	T	C	12: 85,475,097	S102P	probably benign	Het
Foxs1	C	T	2: 152,932,441	G231S	probably benign	Het
Furin	T	C	7: 80,396,986	D174G	probably damaging	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Git2	C	T	5: 114,766,489	R123H	probably damaging	Het
Gm32687	T	A	10: 81,880,189	C472S	probably damaging	Het
Gmip	A	G	8: 69,814,435	E327G	probably benign	Het
Gpld1	A	G	13: 24,962,405	T211A	probably benign	Het
Grin2d	T	C	7: 45,862,379	H214R	probably benign	Het
Hfm1	T	C	5: 106,896,043	T576A	probably benign	Het
Hnrnpd	A	T	5: 99,967,254	F142I	probably damaging	Het
Krt32	T	A	11: 100,081,221	T434S	probably benign	Het
Lct	T	G	1: 128,300,732	D1008A	probably damaging	Het
Man1c1	A	G	4: 134,564,503		probably null	Het
March7	T	A	2: 60,229,704	C58*	probably null	Het
Mccc1	C	T	3: 35,975,794		probably null	Het
Mybpc1	T	A	10: 88,549,325	D484V	probably damaging	Het
Myh10	T	A	11: 68,745,980	C227S	unknown	Het
Nin	T	C	12: 70,062,706	E153G		Het
Nr1h2	G	A	7: 44,550,792	T313M	probably damaging	Het
Olfr1288	T	A	2: 111,479,132	I116K	probably damaging	Het
Olfr178	G	T	16: 58,889,266	A318D	probably benign	Het
Otog	C	A	7: 46,287,855	H1663N	possibly damaging	Het
Piezo2	G	T	18: 63,053,010	T1696K	probably benign	Het
Plcd1	A	T	9: 119,072,254	N703K	possibly damaging	Het
Plekhg4	T	A	8: 105,375,399	C7S	probably benign	Het
Pnma2	A	G	14: 66,915,979		probably benign	Het
Prag1	A	G	8: 36,146,942	Y1216C	probably damaging	Het
Prima1	T	C	12: 103,197,307	Y135C	probably damaging	Het
Prkce	C	A	17: 86,493,293	S379*	probably null	Het
Prmt7	A	G	8: 106,242,203	N383S	probably damaging	Het
Ptafr	A	G	4: 132,579,752	Y151C	probably damaging	Het
Rad23a	A	T	8: 84,838,479	S136T	probably benign	Het
Rnf123	A	T	9: 108,070,619	Y137N	probably damaging	Het
Sfxn4	A	C	19: 60,853,886	I126S	probably benign	Het
Slc4a4	A	G	5: 89,225,867	H935R	probably damaging	Het
Slitrk3	T	G	3: 73,051,115	N108T	probably damaging	Het
Spred1	T	A	2: 117,177,325	H237Q	probably benign	Het
Syne1	T	A	10: 5,124,820	K1168N	probably damaging	Het
Syt14	T	C	1: 192,983,577	K340E	unknown	Het
Tespa1	T	C	10: 130,354,755	S84P	probably damaging	Het
Tmem268	G	T	4: 63,562,444		probably benign	Het
Tmem52b	T	A	6: 129,516,077	Y48*	probably null	Het
Tox2	C	A	2: 163,315,902	Y295*	probably null	Het
Trp53bp1	T	G	2: 121,236,638	T536P	possibly damaging	Het
Tysnd1	T	C	10: 61,695,886	C106R	probably benign	Het
Unc5d	T	C	8: 28,891,421	I63V	probably damaging	Het
Vmn1r235	A	G	17: 21,261,619	N69D	possibly damaging	Het
Vps11	A	T	9: 44,348,961	M868K	probably benign	Het
Wipf3	A	G	6: 54,485,524	T240A	possibly damaging	Het
Xirp2	G	A	2: 67,514,965	E2517K	possibly damaging	Het
Ylpm1	T	A	12: 84,997,220	L244Q	unknown	Het
Zdhhc18	G	T	4: 133,615,209	S198*	probably null	Het
Zfp760	T	A	17: 21,722,261	L139*	probably null	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
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'- ACAGCTTGTGGGGATAGAACC -3'
(R):5'- TATGGTTGAGCTGTCCCAGG -3'

Sequencing Primer
(F):5'- TGAACGTGCATGGCTGAC -3'
(R):5'- AGCTGTCCCAGGTCCTTGAC -3'

Posted On

2019-10-24