Mutagenetix > Incidental Mutation

Incidental Mutation 'R2071:Ptprn'

227105

Institutional Source

Beutler Lab

Gene Symbol

Ptprn

Ensembl Gene

ENSMUSG00000026204

Gene Name

protein tyrosine phosphatase receptor type N

Synonyms

IA-2

MMRRC Submission

040076-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.606) question?

Stock #

R2071 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

75223671-75241146 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75231788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 504 (G504C)

Ref Sequence

ENSEMBL: ENSMUSP00000027404 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027404] [ENSMUST00000185849] [ENSMUST00000186178] [ENSMUST00000189769]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000027404
AA Change: G504C

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

SMART Domains

Protein: ENSMUSP00000027404
Gene: ENSMUSG00000026204
AA Change: G504C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185849

SMART Domains

Protein: ENSMUSP00000140062
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	1	62	5e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186178

SMART Domains

Protein: ENSMUSP00000139925
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	27	128	1.5e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188401

Predicted Effect

probably benign
Transcript: ENSMUST00000189769

SMART Domains

Protein: ENSMUSP00000140168
Gene: ENSMUSG00000026204

Domain	Start	End	E-Value	Type
RESP18	56	157	1.5e-51	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191154

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,422,474 (GRCm39)	H283Q	probably damaging	Het
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Adam33	T	C	2: 130,897,266 (GRCm39)	T310A	probably benign	Het
Afm	A	G	5: 90,671,594 (GRCm39)	D92G	probably benign	Het
Arg1	C	T	10: 24,798,561 (GRCm39)	A30T	probably benign	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
Atg2a	T	C	19: 6,307,488 (GRCm39)	V1474A	probably benign	Het
Atp12a	A	G	14: 56,603,466 (GRCm39)	K24E	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cep295	T	C	9: 15,252,860 (GRCm39)	R323G	probably damaging	Het
Chek2	T	C	5: 110,989,112 (GRCm39)		probably benign	Het
Chga	A	T	12: 102,529,122 (GRCm39)	K366N	probably damaging	Het
Chrm5	T	C	2: 112,309,572 (GRCm39)	K515E	probably null	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Eif1ad8	T	A	12: 87,563,822 (GRCm39)	F52L	probably benign	Het
Fzd3	A	G	14: 65,473,012 (GRCm39)	F252S	probably damaging	Het
Gas2l2	T	C	11: 83,312,775 (GRCm39)	K846E	probably benign	Het
Gpatch11	T	C	17: 79,148,514 (GRCm39)		probably null	Het
Gucy2g	T	A	19: 55,210,772 (GRCm39)	Y661F	possibly damaging	Het
Hhip	A	G	8: 80,783,931 (GRCm39)	F72L	probably benign	Het
Kat14	T	C	2: 144,231,136 (GRCm39)	L181P	probably damaging	Het
Kifc3	A	T	8: 95,834,981 (GRCm39)		probably null	Het
Kntc1	G	T	5: 123,932,340 (GRCm39)		probably null	Het
Man2b1	G	T	8: 85,812,013 (GRCm39)	V156L	possibly damaging	Het
Mast1	T	C	8: 85,647,823 (GRCm39)	D517G	probably damaging	Het
Mc1r	T	C	8: 124,135,108 (GRCm39)	L287P	possibly damaging	Het
Mctp1	A	T	13: 76,907,843 (GRCm39)	E238V	probably damaging	Het
Mmp12	T	A	9: 7,349,725 (GRCm39)	I52N	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Nap1l1	C	T	10: 111,328,761 (GRCm39)	T230I	possibly damaging	Het
Niban1	T	C	1: 151,512,181 (GRCm39)	F28L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Nudt13	T	A	14: 20,354,045 (GRCm39)	D36E	probably damaging	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pde10a	A	T	17: 9,180,827 (GRCm39)	I754F	probably benign	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Pgap6	T	C	17: 26,341,017 (GRCm39)	Y176H	probably damaging	Het
Polr1a	T	A	6: 71,953,058 (GRCm39)	V567E	possibly damaging	Het
Pou3f2	A	G	4: 22,488,076 (GRCm39)	V19A	probably benign	Het
Pramel34	T	G	5: 93,784,375 (GRCm39)	Q363P	probably damaging	Het
Pth1r	A	G	9: 110,556,081 (GRCm39)	I264T	probably benign	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rev3l	T	A	10: 39,700,349 (GRCm39)	D1615E	probably benign	Het
Rhob	A	G	12: 8,549,232 (GRCm39)	M134T	probably benign	Het
Slc10a4	T	C	5: 73,164,840 (GRCm39)	L144P	probably damaging	Het
Slc45a3	T	C	1: 131,905,370 (GRCm39)	L131P	probably damaging	Het
Slf1	T	A	13: 77,252,743 (GRCm39)	E259D	probably benign	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Sorl1	T	C	9: 41,890,753 (GRCm39)	D1922G	possibly damaging	Het
Spats2l	T	A	1: 57,979,623 (GRCm39)	I243N	possibly damaging	Het
Specc1	A	C	11: 62,008,701 (GRCm39)	K152N	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tcstv2b	A	T	13: 120,373,836 (GRCm39)	D151E	probably benign	Het
Tep1	T	C	14: 51,091,739 (GRCm39)	K601E	probably benign	Het
Trp53	A	G	11: 69,480,458 (GRCm39)	D278G	probably damaging	Het
Ttc39d	G	A	17: 80,524,030 (GRCm39)	G230R	probably damaging	Het
Tubb2b	T	A	13: 34,312,244 (GRCm39)	Y183F	probably damaging	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Vcp	A	G	4: 42,995,894 (GRCm39)		probably null	Het
Vmn1r201	T	C	13: 22,658,995 (GRCm39)	F70L	probably benign	Het
Vmn1r49	C	T	6: 90,049,184 (GRCm39)	V273I	probably benign	Het
Vmn2r103	A	T	17: 20,014,056 (GRCm39)	I283L	probably benign	Het
Xpr1	T	C	1: 155,166,026 (GRCm39)	T574A	probably benign	Het
Zfp408	A	G	2: 91,476,363 (GRCm39)	F364L	probably damaging	Het
Zfyve26	A	G	12: 79,334,220 (GRCm39)	L266P	possibly 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
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
R9076:Ptprn	UTSW	1	75,229,018 (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'- GCAGATTCAGGATGAGGCTAGC -3'
(R):5'- CCTATGGGATTGGGTTAGCC -3'

Sequencing Primer
(F):5'- TAGCAGCAGGCCTACGTGTG -3'
(R):5'- CGAAGGTCCTGAGTTCAAATCTCAG -3'

Posted On

2014-09-17