Mutagenetix > Incidental Mutation

Incidental Mutation 'R1130:Ptprj'

98025

Institutional Source

Beutler Lab

Gene Symbol

Ptprj

Ensembl Gene

ENSMUSG00000025314

Gene Name

protein tyrosine phosphatase receptor type J

Synonyms

Byp, RPTPJ, Scc1, CD148, DEP-1, Scc-1

MMRRC Submission

039203-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.251) question?

Stock #

R1130 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90260098-90410939 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90283765 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 803 (V803A)

Ref Sequence

ENSEMBL: ENSMUSP00000107121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111493] [ENSMUST00000111495] [ENSMUST00000168621]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000111493
AA Change: V710A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: V710A

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC
FN3	47	182	3.76e-6	SMART
FN3	194	271	4.56e-5	SMART
FN3	282	357	5.32e-6	SMART
FN3	368	446	2.19e-7	SMART
FN3	455	531	5e-2	SMART
FN3	546	628	2.77e1	SMART
low complexity region	637	650	N/A	INTRINSIC
Blast:PTPc	714	797	8e-26	BLAST
PTPc	867	1127	3.37e-133	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111495
AA Change: V803A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: V803A

Domain	Start	End	E-Value	Type
low complexity region	14	25	N/A	INTRINSIC
FN3	59	131	2.85e-6	SMART
FN3	140	275	3.76e-6	SMART
FN3	287	364	4.56e-5	SMART
FN3	375	450	5.32e-6	SMART
FN3	461	539	2.19e-7	SMART
FN3	548	624	5e-2	SMART
FN3	639	721	2.77e1	SMART
low complexity region	730	743	N/A	INTRINSIC
Blast:PTPc	807	890	1e-25	BLAST
PTPc	960	1220	3.37e-133	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168621
AA Change: V896A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: V896A

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
low complexity region	26	94	N/A	INTRINSIC
low complexity region	133	140	N/A	INTRINSIC
FN3	152	224	2.85e-6	SMART
FN3	233	368	3.76e-6	SMART
FN3	380	457	4.56e-5	SMART
FN3	468	543	5.32e-6	SMART
FN3	554	632	2.19e-7	SMART
FN3	641	717	5e-2	SMART
FN3	732	814	2.77e1	SMART
low complexity region	823	836	N/A	INTRINSIC
Blast:PTPc	900	983	1e-25	BLAST
PTPc	1053	1313	3.37e-133	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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 containing five fibronectin type III repeats, a single transmembrane region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. This protein is present in all hematopoietic lineages, and was shown to negatively regulate T cell receptor signaling possibly through interfering with the phosphorylation of Phospholipase C Gamma 1 and Linker for Activation of T Cells. This protein can also dephosphorylate the PDGF beta receptor, and may be involved in UV-induced signal transduction. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die in utero displaying severe growth retardation and cardiovascular defects. Homozygotes for a second null allele are viable, fertile and healthy with no spontaneous tumor formation. Homozygotes for a third null allele show sterility and a block B cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	C	T	15: 81,943,561 (GRCm39)	H58Y	probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Armc2	T	C	10: 41,887,830 (GRCm39)	D51G	possibly damaging	Het
Aspm	A	T	1: 139,405,572 (GRCm39)	K1486N	possibly damaging	Het
Aurka	A	T	2: 172,199,178 (GRCm39)		probably null	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cldn20	T	C	17: 3,583,243 (GRCm39)	Y139H	probably damaging	Het
Defb19	C	A	2: 152,418,109 (GRCm39)	E76*	probably null	Het
Fcho2	A	T	13: 98,884,797 (GRCm39)	D423E	probably damaging	Het
Frem1	T	G	4: 82,834,865 (GRCm39)		probably null	Het
Gaa	C	T	11: 119,165,509 (GRCm39)	T333M	probably damaging	Het
Gm9945	T	A	11: 53,371,345 (GRCm39)		probably benign	Het
Gml2	G	A	15: 74,693,195 (GRCm39)	C66Y	probably damaging	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnh2	G	A	5: 24,536,823 (GRCm39)	R254*	probably null	Het
Megf10	T	C	18: 57,395,078 (GRCm39)	V480A	probably benign	Het
Nrde2	A	T	12: 100,091,929 (GRCm39)	M1152K	probably damaging	Het
Ociad1	T	C	5: 73,451,675 (GRCm39)	S15P	probably benign	Het
Rxylt1	T	C	10: 121,931,847 (GRCm39)	I109V	possibly damaging	Het
Skint7	T	C	4: 111,841,355 (GRCm39)	I265T	probably benign	Het
Srsf2	A	G	11: 116,743,009 (GRCm39)		probably benign	Het
Tac2	A	G	10: 127,565,371 (GRCm39)	N108D	possibly damaging	Het

Other mutations in Ptprj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Ptprj	APN	2	90,282,488 (GRCm39)	missense	probably damaging	1.00
IGL01594:Ptprj	APN	2	90,271,139 (GRCm39)	splice site	probably benign
IGL01767:Ptprj	APN	2	90,299,918 (GRCm39)	missense	probably benign	0.11
IGL01917:Ptprj	APN	2	90,300,093 (GRCm39)	missense	probably damaging	1.00
IGL01981:Ptprj	APN	2	90,270,256 (GRCm39)	missense	probably damaging	1.00
IGL02830:Ptprj	APN	2	90,283,488 (GRCm39)	missense	probably benign	0.22
IGL02955:Ptprj	APN	2	90,298,808 (GRCm39)	critical splice acceptor site	probably null
IGL03102:Ptprj	APN	2	90,309,312 (GRCm39)	missense	probably benign	0.02
IGL03150:Ptprj	APN	2	90,290,955 (GRCm39)	missense	probably damaging	0.98
IGL03210:Ptprj	APN	2	90,300,070 (GRCm39)	missense	probably benign	0.01
IGL02799:Ptprj	UTSW	2	90,299,942 (GRCm39)	missense	probably benign	0.00
R0083:Ptprj	UTSW	2	90,300,121 (GRCm39)	splice site	probably null
R0108:Ptprj	UTSW	2	90,300,121 (GRCm39)	splice site	probably null
R0579:Ptprj	UTSW	2	90,266,913 (GRCm39)	critical splice acceptor site	probably null
R1160:Ptprj	UTSW	2	90,274,868 (GRCm39)	missense	probably damaging	1.00
R1238:Ptprj	UTSW	2	90,274,758 (GRCm39)	splice site	probably null
R1507:Ptprj	UTSW	2	90,301,631 (GRCm39)	missense	possibly damaging	0.87
R1552:Ptprj	UTSW	2	90,301,497 (GRCm39)	missense	probably damaging	0.98
R1607:Ptprj	UTSW	2	90,293,664 (GRCm39)	missense	probably benign	0.14
R1693:Ptprj	UTSW	2	90,280,141 (GRCm39)	nonsense	probably null
R2016:Ptprj	UTSW	2	90,294,958 (GRCm39)	missense	probably damaging	1.00
R2017:Ptprj	UTSW	2	90,294,958 (GRCm39)	missense	probably damaging	1.00
R2044:Ptprj	UTSW	2	90,293,439 (GRCm39)	missense	probably damaging	0.96
R2322:Ptprj	UTSW	2	90,301,473 (GRCm39)	missense	probably benign	0.06
R2516:Ptprj	UTSW	2	90,305,340 (GRCm39)	splice site	probably benign
R3106:Ptprj	UTSW	2	90,270,975 (GRCm39)	missense	probably damaging	1.00
R3964:Ptprj	UTSW	2	90,298,785 (GRCm39)	missense	probably benign	0.00
R4201:Ptprj	UTSW	2	90,293,439 (GRCm39)	missense	probably damaging	0.99
R4533:Ptprj	UTSW	2	90,270,299 (GRCm39)	missense	probably damaging	1.00
R4680:Ptprj	UTSW	2	90,290,840 (GRCm39)	missense	probably benign	0.00
R4738:Ptprj	UTSW	2	90,270,987 (GRCm39)	missense	probably damaging	1.00
R4983:Ptprj	UTSW	2	90,290,876 (GRCm39)	missense	probably damaging	0.98
R5137:Ptprj	UTSW	2	90,299,992 (GRCm39)	missense	possibly damaging	0.70
R5349:Ptprj	UTSW	2	90,301,605 (GRCm39)	missense	probably benign	0.00
R5369:Ptprj	UTSW	2	90,299,985 (GRCm39)	missense	probably benign	0.09
R5718:Ptprj	UTSW	2	90,288,613 (GRCm39)	missense	probably benign	0.00
R5914:Ptprj	UTSW	2	90,283,684 (GRCm39)	missense	possibly damaging	0.81
R6022:Ptprj	UTSW	2	90,301,667 (GRCm39)	missense	probably benign	0.14
R6341:Ptprj	UTSW	2	90,288,693 (GRCm39)	missense	probably benign
R6421:Ptprj	UTSW	2	90,301,484 (GRCm39)	missense	possibly damaging	0.62
R6724:Ptprj	UTSW	2	90,281,195 (GRCm39)	missense	probably benign	0.04
R6831:Ptprj	UTSW	2	90,290,991 (GRCm39)	missense	probably damaging	1.00
R6939:Ptprj	UTSW	2	90,289,858 (GRCm39)	missense	possibly damaging	0.68
R6972:Ptprj	UTSW	2	90,410,747 (GRCm39)	missense	possibly damaging	0.91
R7134:Ptprj	UTSW	2	90,294,822 (GRCm39)	missense	probably benign	0.16
R7149:Ptprj	UTSW	2	90,274,790 (GRCm39)	missense	possibly damaging	0.95
R7243:Ptprj	UTSW	2	90,276,765 (GRCm39)	missense	probably damaging	0.96
R7335:Ptprj	UTSW	2	90,271,126 (GRCm39)	missense	probably benign	0.01
R7439:Ptprj	UTSW	2	90,280,163 (GRCm39)	missense	possibly damaging	0.82
R7441:Ptprj	UTSW	2	90,280,163 (GRCm39)	missense	possibly damaging	0.82
R7498:Ptprj	UTSW	2	90,266,909 (GRCm39)	nonsense	probably null
R7571:Ptprj	UTSW	2	90,285,530 (GRCm39)	missense	probably benign	0.24
R7657:Ptprj	UTSW	2	90,282,501 (GRCm39)	splice site	probably null
R7672:Ptprj	UTSW	2	90,290,940 (GRCm39)	missense	possibly damaging	0.49
R7849:Ptprj	UTSW	2	90,274,804 (GRCm39)	missense	probably damaging	0.98
R7939:Ptprj	UTSW	2	90,295,009 (GRCm39)	missense	probably damaging	1.00
R7958:Ptprj	UTSW	2	90,299,971 (GRCm39)	missense	possibly damaging	0.71
R8338:Ptprj	UTSW	2	90,301,481 (GRCm39)	missense	possibly damaging	0.48
R8354:Ptprj	UTSW	2	90,300,061 (GRCm39)	missense	probably benign	0.43
R8556:Ptprj	UTSW	2	90,271,044 (GRCm39)	missense	probably damaging	1.00
R8695:Ptprj	UTSW	2	90,301,481 (GRCm39)	missense	possibly damaging	0.48
R8784:Ptprj	UTSW	2	90,290,856 (GRCm39)	missense	possibly damaging	0.49
R8984:Ptprj	UTSW	2	90,270,987 (GRCm39)	missense	probably damaging	1.00
R9054:Ptprj	UTSW	2	90,290,984 (GRCm39)	missense	probably damaging	1.00
R9056:Ptprj	UTSW	2	90,288,613 (GRCm39)	missense	probably benign	0.00
R9147:Ptprj	UTSW	2	90,288,562 (GRCm39)	missense	probably benign	0.02
R9148:Ptprj	UTSW	2	90,288,562 (GRCm39)	missense	probably benign	0.02
R9168:Ptprj	UTSW	2	90,294,916 (GRCm39)	missense	possibly damaging	0.62
R9314:Ptprj	UTSW	2	90,301,631 (GRCm39)	missense	possibly damaging	0.87
R9337:Ptprj	UTSW	2	90,270,238 (GRCm39)	missense	probably damaging	1.00
R9546:Ptprj	UTSW	2	90,274,805 (GRCm39)	missense	probably benign	0.08
RF013:Ptprj	UTSW	2	90,301,514 (GRCm39)	nonsense	probably null
Z1177:Ptprj	UTSW	2	90,290,913 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCACGAGGCTCAGAAGGCAAC -3'
(R):5'- GTGGTACAAGCCAAGTCCTAAGCG -3'

Sequencing Primer
(F):5'- CTGCAAGGACCCAGATATTACCG -3'
(R):5'- GCTCCTAGAACTCCTTGAGAG -3'

Posted On

2014-01-05