Mutagenetix > Incidental Mutations

Incidental Mutation 'R5369:Ptprj'

429520

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

042946-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90429754-90580647 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90469641 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 179 (H179R)

Ref Sequence

ENSEMBL: ENSMUSP00000107121 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111493
AA Change: H86R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: H86R

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: H179R

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: H179R

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: H272R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: H272R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	A	6: 41,033,006	R131S	probably benign	Het
A2ml1	T	C	6: 128,568,833	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,379,091		probably benign	Het
Abcb8	C	T	5: 24,400,139	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,112,510	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,564	V175A	probably benign	Het
B3galnt2	T	C	13: 13,994,425		probably null	Het
BC024139	A	C	15: 76,120,222	S711R	probably benign	Het
Bod1l	A	G	5: 41,827,183	I508T	probably damaging	Het
Btnl6	T	A	17: 34,507,985	R524*	probably null	Het
C3	C	A	17: 57,221,159	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,061,414	A367V	probably benign	Het
Ccr1	A	T	9: 123,964,289	M68K	probably damaging	Het
Cd27	T	A	6: 125,234,364		probably benign	Het
Celf2	C	A	2: 7,081,081		probably benign	Het
Cfap54	T	C	10: 93,061,257		probably benign	Het
Cfap97	A	G	8: 46,169,650	K26E	probably damaging	Het
Clcn4	T	A	7: 7,296,033	I48F	probably benign	Het
Cnot7	A	T	8: 40,494,020	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750	I654V	unknown	Het
Dip2a	A	G	10: 76,292,360	I22T	probably damaging	Het
Eif4g3	C	T	4: 138,183,334	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,858,783	G725D	probably damaging	Het
F12	T	C	13: 55,418,491	E496G	probably benign	Het
Fam227a	A	T	15: 79,615,436	S573T	probably benign	Het
Fnip1	T	C	11: 54,502,589	V593A	probably benign	Het
Focad	T	A	4: 88,121,373		probably benign	Het
Frem1	A	G	4: 83,001,739	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,765,747		probably null	Het
Gm5592	A	T	7: 41,218,211		probably benign	Het
Gm6185	A	T	1: 161,209,760		noncoding transcript	Het
Gm7935	A	T	15: 74,081,114		noncoding transcript	Het
Grb14	C	T	2: 64,917,309	V369I	probably benign	Het
Gstm5	G	A	3: 107,898,466	A198T	probably damaging	Het
Herc2	T	A	7: 56,182,700	V3048D	probably damaging	Het
Htra4	T	G	8: 25,033,569	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,637,307	M1T	probably null	Het
Ints6	T	C	14: 62,743,935	T135A	probably damaging	Het
Itpr1	T	A	6: 108,519,424	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,692,558	M268L	probably benign	Het
Lrp1b	G	T	2: 41,004,613	S2201*	probably null	Het
Lrp2	T	C	2: 69,459,560	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,272,904	I539N	possibly damaging	Het
Map3k6	T	C	4: 133,247,681	I675T	probably damaging	Het
Map3k9	T	A	12: 81,722,052	E1074V	probably damaging	Het
Med13l	T	A	5: 118,724,010	S339R	probably benign	Het
Mrps18a	T	C	17: 46,125,626		probably benign	Het
Nat8f2	G	T	6: 85,867,872	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,181,799	I406T	probably benign	Het
Npc1l1	A	G	11: 6,217,705		probably null	Het
Olfr202	A	T	16: 59,284,380	M39K	probably damaging	Het
Olfr419	A	G	1: 174,250,441	V162A	probably damaging	Het
Ostf1	C	T	19: 18,581,325	G198E	probably benign	Het
Pcsk5	A	G	19: 17,581,255	V596A	probably damaging	Het
Pde4c	T	C	8: 70,750,105	*647Q	probably null	Het
Pkm	A	T	9: 59,670,634	I245F	probably damaging	Het
Rapgef2	A	T	3: 79,069,432	S1356T	probably benign	Het
Rbm45	T	A	2: 76,370,250	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scel	A	T	14: 103,586,493	I386F	probably benign	Het
Serpinb5	A	T	1: 106,881,757	N298Y	possibly damaging	Het
Sirt3	A	T	7: 140,869,493	L180Q	probably damaging	Het
Slc24a2	C	T	4: 86,991,388	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,957,723	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,490,199	D25G	probably benign	Het
Snrnp40	T	C	4: 130,362,646	S55P	probably damaging	Het
Snx9	T	A	17: 5,920,580	C399S	probably damaging	Het
Soga1	T	C	2: 157,040,734	E466G	probably damaging	Het
Ttbk2	T	C	2: 120,825,262		probably benign	Het
Vmn1r1	A	G	1: 182,157,776	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,475,502	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491	P1851L	possibly damaging	Het
Zfp472	A	T	17: 32,977,743	D264V	probably damaging	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
R1607:Ptprj	UTSW	2	90463320	missense	probably benign	0.14
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
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'- GGAAAACCTGCCAGCAATTC -3'
(R):5'- GCTGCAGATGCTTTTCTCAC -3'

Sequencing Primer
(F):5'- GGAAAACCTGCCAGCAATTCTAAAAC -3'
(R):5'- TCTCACTAATACCCATGGTGTG -3'

Posted On

2016-09-06