Mutagenetix > Incidental Mutations

Incidental Mutation 'R1607:Ptprj'

176535

Institutional Source

Beutler Lab

Gene Symbol

Ptprj

Ensembl Gene

ENSMUSG00000025314

Gene Name

protein tyrosine phosphatase, receptor type, J

Synonyms

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

MMRRC Submission

039644-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

R1607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90429754-90580647 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90463320 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000107121 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111493
AA Change: D287G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: D287G

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 benign
Transcript: ENSMUST00000111495
AA Change: D380G

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: D380G

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 benign
Transcript: ENSMUST00000168621
AA Change: D473G

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: D473G

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 88.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 120,251,291	P789S	probably damaging	Het
Adam17	T	A	12: 21,334,138		probably null	Het
Afdn	C	T	17: 13,810,501	R224W	probably damaging	Het
Als2	A	G	1: 59,180,147	Y1215H	probably damaging	Het
Anks1b	A	T	10: 90,042,548	D73V	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cenpv	A	T	11: 62,525,176	M249K	probably benign	Het
Ces1d	C	T	8: 93,186,118	V231I	probably benign	Het
Clasp1	G	A	1: 118,504,959	V460I	probably damaging	Het
Cnot10	A	T	9: 114,629,095	Y114*	probably null	Het
Cpb1	G	T	3: 20,263,782	R193S	probably benign	Het
Ctc1	T	C	11: 69,036,150	S1207P	possibly damaging	Het
Cttnbp2	T	A	6: 18,435,433	K142M	probably damaging	Het
Dhrs7b	T	G	11: 60,851,891	D136E	probably benign	Het
Dnah7b	T	C	1: 46,290,646	S3217P	probably damaging	Het
Eif4g3	C	T	4: 138,126,563	S480L	probably benign	Het
Enah	A	T	1: 181,917,197		probably null	Het
Epx	T	C	11: 87,868,712	D517G	probably damaging	Het
Gabrg2	T	A	11: 41,976,663	D43V	probably damaging	Het
Gdf9	A	T	11: 53,437,511	E431D	possibly damaging	Het
Ghr	T	C	15: 3,320,574	D374G	probably damaging	Het
Gin1	A	T	1: 97,786,150	I392F	probably damaging	Het
Greb1l	A	G	18: 10,529,703	E786G	possibly damaging	Het
Grk4	T	C	5: 34,731,538	V342A	probably benign	Het
Hhipl2	A	T	1: 183,423,524	Y135F	possibly damaging	Het
Insig1	C	T	5: 28,071,708	R91W	probably damaging	Het
Kcnf1	C	G	12: 17,175,732	D163H	probably benign	Het
Kif11	A	T	19: 37,387,200	K190*	probably null	Het
Ldb2	T	G	5: 44,473,472	E309A	probably damaging	Het
Lipo4	T	G	19: 33,512,673	D143A	probably damaging	Het
Map3k6	T	G	4: 133,252,473	I1261S	probably damaging	Het
Mtus1	C	T	8: 41,015,409	V27I	possibly damaging	Het
Ndufaf2	C	T	13: 108,091,573	V60I	probably benign	Het
Nup133	A	G	8: 123,949,035	F48L	probably benign	Het
Olfr1131	T	A	2: 87,628,977	N171K	probably benign	Het
Olfr1357	G	T	10: 78,612,140	T167N	probably benign	Het
Olfr1362	A	C	13: 21,611,764	F68L	probably benign	Het
Pcdhb21	A	T	18: 37,515,479	N554Y	probably damaging	Het
Pcx	A	T	19: 4,603,159	D284V	possibly damaging	Het
Pcyt1a	T	C	16: 32,467,119	S203P	probably damaging	Het
Pdlim3	A	T	8: 45,896,859	I69F	probably damaging	Het
Pkp4	T	C	2: 59,322,554	V598A	probably benign	Het
Plbd1	T	C	6: 136,612,306	I509V	probably benign	Het
Polr3b	C	A	10: 84,652,783	T319N	probably benign	Het
Ralgapa1	T	G	12: 55,741,536	R587S	probably damaging	Het
Scn5a	C	A	9: 119,486,092	R1850L	probably damaging	Het
Ssc5d	C	A	7: 4,944,043	T1132K	probably benign	Het
Stard7	T	A	2: 127,295,486	N285K	possibly damaging	Het
Tcp11l2	C	T	10: 84,613,487	R439W	probably damaging	Het
Tecrl	T	C	5: 83,280,508		probably null	Het
Tep1	A	T	14: 50,824,563	L2570Q	probably null	Het
Tex14	A	T	11: 87,554,928	D191V	probably damaging	Het
Tm7sf2	A	G	19: 6,063,019		probably null	Het
Tmem132e	A	G	11: 82,437,370	K408R	probably benign	Het
Tube1	A	G	10: 39,144,766	D216G	possibly damaging	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Vmn2r82	A	G	10: 79,379,419	H412R	possibly damaging	Het
Wtip	T	C	7: 34,116,595	E352G	probably damaging	Het
Xirp2	T	A	2: 67,510,295	L960*	probably null	Het
Zc3h11a	A	C	1: 133,624,687	S561A	probably benign	Het
Zfhx2	A	T	14: 55,062,985	D2436E	probably damaging	Het
Zfp763	T	C	17: 33,019,907	H88R	probably benign	Het

Other mutations in Ptprj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01528:Ptprj	APN	2	90452144	missense	probably damaging	1.00
IGL01594:Ptprj	APN	2	90440795	splice site	probably benign
IGL01767:Ptprj	APN	2	90469574	missense	probably benign	0.11
IGL01917:Ptprj	APN	2	90469749	missense	probably damaging	1.00
IGL01981:Ptprj	APN	2	90439912	missense	probably damaging	1.00
IGL02830:Ptprj	APN	2	90453144	missense	probably benign	0.22
IGL02955:Ptprj	APN	2	90468464	critical splice acceptor site	probably null
IGL03102:Ptprj	APN	2	90478968	missense	probably benign	0.02
IGL03150:Ptprj	APN	2	90460611	missense	probably damaging	0.98
IGL03210:Ptprj	APN	2	90469726	missense	probably benign	0.01
IGL02799:Ptprj	UTSW	2	90469598	missense	probably benign	0.00
R0083:Ptprj	UTSW	2	90469777	intron	probably null
R0108:Ptprj	UTSW	2	90469777	intron	probably null
R0579:Ptprj	UTSW	2	90436569	critical splice acceptor site	probably null
R1130:Ptprj	UTSW	2	90453421	missense	probably damaging	1.00
R1160:Ptprj	UTSW	2	90444524	missense	probably damaging	1.00
R1238:Ptprj	UTSW	2	90444414	splice site	probably null
R1507:Ptprj	UTSW	2	90471287	missense	possibly damaging	0.87
R1552:Ptprj	UTSW	2	90471153	missense	probably damaging	0.98
R1693:Ptprj	UTSW	2	90449797	nonsense	probably null
R2016:Ptprj	UTSW	2	90464614	missense	probably damaging	1.00
R2017:Ptprj	UTSW	2	90464614	missense	probably damaging	1.00
R2044:Ptprj	UTSW	2	90463095	missense	probably damaging	0.96
R2322:Ptprj	UTSW	2	90471129	missense	probably benign	0.06
R2516:Ptprj	UTSW	2	90474996	splice site	probably benign
R3106:Ptprj	UTSW	2	90440631	missense	probably damaging	1.00
R3964:Ptprj	UTSW	2	90468441	missense	probably benign	0.00
R4201:Ptprj	UTSW	2	90463095	missense	probably damaging	0.99
R4533:Ptprj	UTSW	2	90439955	missense	probably damaging	1.00
R4680:Ptprj	UTSW	2	90460496	missense	probably benign	0.00
R4738:Ptprj	UTSW	2	90440643	missense	probably damaging	1.00
R4983:Ptprj	UTSW	2	90460532	missense	probably damaging	0.98
R5137:Ptprj	UTSW	2	90469648	missense	possibly damaging	0.70
R5349:Ptprj	UTSW	2	90471261	missense	probably benign	0.00
R5369:Ptprj	UTSW	2	90469641	missense	probably benign	0.09
R5718:Ptprj	UTSW	2	90458269	missense	probably benign	0.00
R5914:Ptprj	UTSW	2	90453340	missense	possibly damaging	0.81
R6022:Ptprj	UTSW	2	90471323	missense	probably benign	0.14
R6341:Ptprj	UTSW	2	90458349	missense	probably benign
R6421:Ptprj	UTSW	2	90471140	missense	possibly damaging	0.62
R6724:Ptprj	UTSW	2	90450851	missense	probably benign	0.04
R6831:Ptprj	UTSW	2	90460647	missense	probably damaging	1.00
R6939:Ptprj	UTSW	2	90459514	missense	possibly damaging	0.68
R6972:Ptprj	UTSW	2	90580403	missense	possibly damaging	0.91
R7134:Ptprj	UTSW	2	90464478	missense	probably benign	0.16
R7149:Ptprj	UTSW	2	90444446	missense	possibly damaging	0.95
R7243:Ptprj	UTSW	2	90446421	missense	probably damaging	0.96
R7335:Ptprj	UTSW	2	90440782	missense	probably benign	0.01
R7439:Ptprj	UTSW	2	90449819	missense	possibly damaging	0.82
R7441:Ptprj	UTSW	2	90449819	missense	possibly damaging	0.82
R7498:Ptprj	UTSW	2	90436565	nonsense	probably null
R7571:Ptprj	UTSW	2	90455186	missense	probably benign	0.24
R7672:Ptprj	UTSW	2	90460596	missense	possibly damaging	0.49
R7849:Ptprj	UTSW	2	90444460	missense	probably damaging	0.98
R7932:Ptprj	UTSW	2	90444460	missense	probably damaging	0.98
RF013:Ptprj	UTSW	2	90471170	nonsense	probably null
Z1177:Ptprj	UTSW	2	90460569	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCATTCACTGTACTGGACAGCC -3'
(R):5'- CGCCTTACATTATGGACGTGGAGAC -3'

Sequencing Primer
(F):5'- GGTCCTCGTGGAATTATCTCAAAATG -3'
(R):5'- attatggacgtggagacCATGC -3'

Posted On

2014-04-24