Mutagenetix > Incidental Mutation

Incidental Mutation 'R9076:Ptprn'

689764

Institutional Source

Beutler Lab

Gene Symbol

Ptprn

Ensembl Gene

ENSMUSG00000026204

Gene Name

protein tyrosine phosphatase receptor type N

Synonyms

IA-2

MMRRC Submission

068897-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.624) question?

Stock #

R9076 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75223671-75241146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75229018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 799 (M799K)

Ref Sequence

ENSEMBL: ENSMUSP00000027404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027404]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027404
AA Change: M799K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: M799K

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
RESP18	63	164	1.5e-51	SMART
low complexity region	174	201	N/A	INTRINSIC
low complexity region	217	235	N/A	INTRINSIC
low complexity region	360	368	N/A	INTRINSIC
Pfam:Receptor_IA-2	471	559	7e-33	PFAM
transmembrane domain	579	601	N/A	INTRINSIC
low complexity region	650	679	N/A	INTRINSIC
PTPc	710	973	1.2e-112	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane region, and a single catalytic domain, and thus represents a receptor-type PTP. This PTP was found to be an autoantigen that is reactive with insulin-dependent diabetes mellitus (IDDM) patient sera, and thus may be a potential target of autoimmunity in diabetes mellitus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for a disruption in this gene on a NOD background display insulitis and increased susceptibility to autoimmune diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	G	A	8: 89,054,336 (GRCm39)	G1064R	probably damaging	Het
Adcy9	A	G	16: 4,106,687 (GRCm39)	V1046A	probably damaging	Het
Adgrv1	C	T	13: 81,570,247 (GRCm39)		probably null	Het
Apbb2	A	C	5: 66,469,507 (GRCm39)	L554W	probably damaging	Het
Arhgef10	C	T	8: 15,024,993 (GRCm39)	P722S	probably damaging	Het
B3galt9	A	T	2: 34,729,209 (GRCm39)	Y336F	probably damaging	Het
Capns1	A	C	7: 29,893,510 (GRCm39)	M1R	probably null	Het
Chst1	C	T	2: 92,443,761 (GRCm39)	Q78*	probably null	Het
Clec12b	A	G	6: 129,356,580 (GRCm39)	S195P	possibly damaging	Het
Cog8	C	T	8: 107,779,208 (GRCm39)	M356I	probably damaging	Het
Cyp4b1	T	C	4: 115,482,424 (GRCm39)	N452D	probably damaging	Het
Defb40	A	T	8: 19,024,994 (GRCm39)	Y71N	probably benign	Het
Dhx8	G	T	11: 101,629,021 (GRCm39)	R190L		Het
Disp1	G	A	1: 182,868,799 (GRCm39)	T1207M	possibly damaging	Het
Dnah9	T	A	11: 66,008,464 (GRCm39)	Y787F	probably benign	Het
Egflam	T	C	15: 7,237,155 (GRCm39)	N1010D	probably damaging	Het
Fam151a	T	A	4: 106,603,254 (GRCm39)	Y272N	probably damaging	Het
Fat1	T	C	8: 45,492,938 (GRCm39)	Y3887H	probably damaging	Het
Fpr3	T	A	17: 18,191,725 (GRCm39)	I332N	probably benign	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Fv1	T	C	4: 147,953,628 (GRCm39)	Y65H	possibly damaging	Het
Gabra6	G	A	11: 42,198,289 (GRCm39)	A387V	probably benign	Het
Gna11	T	C	10: 81,366,715 (GRCm39)	T332A		Het
Gpr161	T	A	1: 165,133,757 (GRCm39)	H6Q	possibly damaging	Het
Grin2b	CA	C	6: 135,709,509 (GRCm39)		probably null	Het
Heatr3	A	T	8: 88,876,827 (GRCm39)	M290L	probably benign	Het
Ifi47	T	G	11: 48,986,842 (GRCm39)	I203R	probably benign	Het
Ighv5-8	TATACAT	TAT	12: 113,618,583 (GRCm39)		probably benign	Het
Klhl10	A	G	11: 100,337,962 (GRCm39)	M234V	possibly damaging	Het
Klra4	A	G	6: 130,039,107 (GRCm39)	I95T	possibly damaging	Het
Krt84	A	G	15: 101,438,098 (GRCm39)	F286L	probably damaging	Het
Lrp2	A	G	2: 69,350,260 (GRCm39)	V704A	probably benign	Het
Lypd6b	A	T	2: 49,837,534 (GRCm39)	S169C	possibly damaging	Het
Mapk12	T	C	15: 89,024,611 (GRCm39)	E22G	probably benign	Het
Ncapg	T	C	5: 45,833,983 (GRCm39)	C340R	probably benign	Het
Ncor2	A	G	5: 125,111,086 (GRCm39)	L394P		Het
Nek1	T	G	8: 61,481,768 (GRCm39)	S228A	probably damaging	Het
Or2ak7	T	C	11: 58,574,722 (GRCm39)	C8R	probably benign	Het
Or2t29	A	T	11: 58,433,782 (GRCm39)	C186*	probably null	Het
Or2t44	T	A	11: 58,677,559 (GRCm39)	F166L	possibly damaging	Het
Or4c119	C	T	2: 88,986,719 (GRCm39)	E267K	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pcdha8	C	A	18: 37,126,285 (GRCm39)	P256T	possibly damaging	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Rhpn2	A	T	7: 35,083,473 (GRCm39)		probably benign	Het
Sae1	A	G	7: 16,070,668 (GRCm39)	F281L	probably benign	Het
Slc25a23	A	G	17: 57,354,309 (GRCm39)	Y366H	probably benign	Het
Slc25a25	G	T	2: 32,309,175 (GRCm39)	T222K	probably damaging	Het
Smarca2	T	A	19: 26,659,452 (GRCm39)	F914Y	possibly damaging	Het
Spef2	C	A	15: 9,653,091 (GRCm39)	V897L	probably benign	Het
Spon2	C	A	5: 33,374,054 (GRCm39)	E110*	probably null	Het
Sstr2	A	G	11: 113,515,177 (GRCm39)	N32S	probably benign	Het
Stk4	T	C	2: 163,959,985 (GRCm39)	V415A	probably benign	Het
Tcaf1	T	G	6: 42,654,372 (GRCm39)	T607P	probably benign	Het
Ush1c	C	A	7: 45,850,480 (GRCm39)	L766F	probably damaging	Het
Usp9y	T	C	Y: 1,383,354 (GRCm39)	I795V	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r53	A	G	7: 12,340,231 (GRCm39)	S81P	probably damaging	Het
Vps45	A	G	3: 95,960,345 (GRCm39)		probably benign	Het
Wdr6	A	G	9: 108,451,627 (GRCm39)	V752A	probably benign	Het
Xkr4	G	A	1: 3,286,358 (GRCm39)	R611*	probably null	Het
Zc3h6	T	G	2: 128,859,096 (GRCm39)	Y1042*	probably null	Het
Zfp236	A	G	18: 82,638,469 (GRCm39)	S1384P	possibly damaging	Het
Zfp800	A	T	6: 28,243,215 (GRCm39)	N583K	probably benign	Het
Zpld1	T	C	16: 55,061,764 (GRCm39)	S206G	probably benign	Het
Zxdc	T	A	6: 90,349,821 (GRCm39)	S372R	probably damaging	Het

Other mutations in Ptprn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01772:Ptprn	APN	1	75,228,914 (GRCm39)	missense	probably damaging	0.99
IGL01900:Ptprn	APN	1	75,228,892 (GRCm39)	splice site	probably benign
IGL02189:Ptprn	APN	1	75,235,139 (GRCm39)	missense	possibly damaging	0.73
IGL02282:Ptprn	APN	1	75,229,800 (GRCm39)	missense	probably damaging	1.00
IGL02452:Ptprn	APN	1	75,234,813 (GRCm39)	missense	probably benign	0.34
IGL02865:Ptprn	APN	1	75,239,007 (GRCm39)	missense	probably damaging	1.00
IGL02926:Ptprn	APN	1	75,224,517 (GRCm39)	missense	possibly damaging	0.95
IGL03062:Ptprn	APN	1	75,224,517 (GRCm39)	missense	possibly damaging	0.95
ascorbic	UTSW	1	75,224,537 (GRCm39)	missense	probably benign	0.16
Delusion	UTSW	1	75,224,810 (GRCm39)	missense	probably damaging	1.00
H8562:Ptprn	UTSW	1	75,231,264 (GRCm39)	missense	possibly damaging	0.66
R0051:Ptprn	UTSW	1	75,228,898 (GRCm39)	critical splice donor site	probably null
R0107:Ptprn	UTSW	1	75,232,356 (GRCm39)	missense	probably damaging	0.99
R0801:Ptprn	UTSW	1	75,228,909 (GRCm39)	missense	probably damaging	1.00
R0865:Ptprn	UTSW	1	75,224,782 (GRCm39)	splice site	probably null
R1120:Ptprn	UTSW	1	75,234,825 (GRCm39)	missense	probably benign	0.00
R1534:Ptprn	UTSW	1	75,234,587 (GRCm39)	critical splice donor site	probably null
R1740:Ptprn	UTSW	1	75,238,694 (GRCm39)	missense	probably damaging	1.00
R1857:Ptprn	UTSW	1	75,224,549 (GRCm39)	missense	possibly damaging	0.64
R1927:Ptprn	UTSW	1	75,230,766 (GRCm39)	missense	probably benign	0.00
R1974:Ptprn	UTSW	1	75,231,464 (GRCm39)	splice site	probably null
R2071:Ptprn	UTSW	1	75,231,788 (GRCm39)	missense	probably damaging	1.00
R2223:Ptprn	UTSW	1	75,234,581 (GRCm39)	unclassified	probably benign
R3714:Ptprn	UTSW	1	75,229,411 (GRCm39)	splice site	probably null
R4617:Ptprn	UTSW	1	75,228,931 (GRCm39)	missense	possibly damaging	0.74
R4832:Ptprn	UTSW	1	75,234,909 (GRCm39)	missense	probably benign	0.37
R5503:Ptprn	UTSW	1	75,228,519 (GRCm39)	missense	probably damaging	1.00
R5926:Ptprn	UTSW	1	75,231,242 (GRCm39)	missense	probably damaging	1.00
R6217:Ptprn	UTSW	1	75,224,810 (GRCm39)	missense	probably damaging	1.00
R6419:Ptprn	UTSW	1	75,240,681 (GRCm39)	missense	probably benign	0.10
R6793:Ptprn	UTSW	1	75,234,786 (GRCm39)	missense	probably benign	0.38
R6964:Ptprn	UTSW	1	75,237,293 (GRCm39)	missense	possibly damaging	0.83
R7071:Ptprn	UTSW	1	75,237,263 (GRCm39)	missense	possibly damaging	0.82
R7680:Ptprn	UTSW	1	75,224,537 (GRCm39)	missense	probably benign	0.16
R7777:Ptprn	UTSW	1	75,228,946 (GRCm39)	missense	possibly damaging	0.54
R7883:Ptprn	UTSW	1	75,239,007 (GRCm39)	missense	probably damaging	1.00
R8233:Ptprn	UTSW	1	75,229,796 (GRCm39)	missense	probably damaging	1.00
R8243:Ptprn	UTSW	1	75,229,179 (GRCm39)	missense	probably damaging	0.99
R8941:Ptprn	UTSW	1	75,228,407 (GRCm39)	missense	probably damaging	1.00
R9382:Ptprn	UTSW	1	75,229,135 (GRCm39)	missense	probably benign	0.05
X0017:Ptprn	UTSW	1	75,229,909 (GRCm39)	missense	probably benign	0.15
Z1088:Ptprn	UTSW	1	75,237,264 (GRCm39)	missense	possibly damaging	0.70
Z1176:Ptprn	UTSW	1	75,228,462 (GRCm39)	missense	probably damaging	0.99
Z1177:Ptprn	UTSW	1	75,234,681 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GGCTCAGAGTCCCTACAAATG -3'
(R):5'- CCCTTAGATCGAGCATGACC -3'

Sequencing Primer
(F):5'- GTGTGTATGCATGCATGAACC -3'
(R):5'- AGCATGACCCTCGGATGC -3'

Posted On

2021-11-19