Mutagenetix > Incidental Mutation

Incidental Mutation 'R3106:Ptprj'

263036

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

040580-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3106 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90429754-90580647 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 90440631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 1251 (H1251L)

Ref Sequence

ENSEMBL: ENSMUSP00000129592 (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: H1065L

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

SMART Domains

Protein: ENSMUSP00000107119
Gene: ENSMUSG00000025314
AA Change: H1065L

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: H1158L

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

SMART Domains

Protein: ENSMUSP00000107121
Gene: ENSMUSG00000025314
AA Change: H1158L

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: H1251L

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

SMART Domains

Protein: ENSMUSP00000129592
Gene: ENSMUSG00000025314
AA Change: H1251L

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

0.9590

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 120,396,633	E1331V	possibly damaging	Het
Adam22	A	G	5: 8,117,583		probably null	Het
Adamts17	T	A	7: 67,125,072	S980T	probably damaging	Het
Adarb1	C	A	10: 77,321,757	K285N	probably damaging	Het
Atp5c1	A	G	2: 10,063,465	S160P	probably benign	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 128,125,077		probably null	Het
Btf3	T	G	13: 98,310,988	E145D	probably benign	Het
Ccdc184	G	T	15: 98,168,601	A96S	probably damaging	Het
Ccdc191	T	C	16: 43,931,210	F301S	probably damaging	Het
Ceacam5	T	C	7: 17,747,323	Y332H	probably benign	Het
Clip2	T	C	5: 134,523,064	K68R	probably benign	Het
Cntln	C	T	4: 84,957,169	T280M	possibly damaging	Het
Col6a3	T	C	1: 90,816,302	R515G	probably damaging	Het
Ctnnal1	G	A	4: 56,813,246	L662F	probably benign	Het
Dennd3	C	A	15: 73,565,124	S118*	probably null	Het
Dgkg	T	A	16: 22,575,341	T321S	probably damaging	Het
Dzip1l	A	T	9: 99,642,572	K249*	probably null	Het
Dzip1l	A	G	9: 99,647,121	E301G	probably benign	Het
Emc10	G	A	7: 44,493,192	R109W	probably damaging	Het
Ezh1	A	C	11: 101,195,642	C575W	probably damaging	Het
Fam187b	A	G	7: 30,977,240	D58G	probably benign	Het
Galnt4	T	C	10: 99,109,381	Y323H	probably benign	Het
Gm13119	T	C	4: 144,361,676	V14A	probably benign	Het
Grm1	A	G	10: 11,079,857	S228P	probably benign	Het
Hist1h1c	G	T	13: 23,738,900	A18S	unknown	Het
Hnf4g	T	G	3: 3,652,856	S388R	probably benign	Het
Il1rap	A	G	16: 26,722,752	E581G	probably benign	Het
Lemd2	C	A	17: 27,201,670	L256F	probably damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Nphs1	C	A	7: 30,467,540	S724*	probably null	Het
Olfr1136	T	C	2: 87,693,505	I126V	probably damaging	Het
Olfr1284	A	G	2: 111,379,495	N165S	probably benign	Het
Osgep	T	C	14: 50,916,829	T225A	probably benign	Het
Pan3	T	C	5: 147,539,379		probably benign	Het
Pld3	A	G	7: 27,535,787		probably null	Het
Plekha7	C	T	7: 116,164,404	R321K	probably benign	Het
Plekhg5	C	T	4: 152,112,178	T694M	probably damaging	Het
Ptpn20	A	G	14: 33,612,296	I44V	probably benign	Het
Sbspon	T	C	1: 15,892,582	E24G	probably benign	Het
Sfmbt1	G	A	14: 30,817,796	C847Y	probably damaging	Het
Sparcl1	T	C	5: 104,093,337	T74A	probably benign	Het
Sppl2b	A	G	10: 80,867,491	E529G	probably benign	Het
Stradb	C	A	1: 58,992,291	H212Q	possibly damaging	Het
Tkfc	G	T	19: 10,596,993	C198*	probably null	Het
Tm4sf4	C	T	3: 57,437,622	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,884,870	S156G	probably damaging	Het
Tmem51	T	C	4: 142,037,724	N8D	probably damaging	Het
Tmigd1	A	G	11: 76,910,298	T204A	possibly damaging	Het
Trp53bp1	A	G	2: 121,236,652	L531S	probably damaging	Het
Tsga10	G	A	1: 37,801,791	L445F	probably damaging	Het
Urb1	C	T	16: 90,795,443	V310I	probably damaging	Het
Vmn2r-ps159	T	A	4: 156,333,435		noncoding transcript	Het
Wdr19	T	C	5: 65,202,623	S24P	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	splice site	probably null
R0108:Ptprj	UTSW	2	90469777	splice site	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
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
R7657:Ptprj	UTSW	2	90452157	splice site	probably null
R7672:Ptprj	UTSW	2	90460596	missense	possibly damaging	0.49
R7849:Ptprj	UTSW	2	90444460	missense	probably damaging	0.98
R7939:Ptprj	UTSW	2	90464665	missense	probably damaging	1.00
R7958:Ptprj	UTSW	2	90469627	missense	possibly damaging	0.71
R8338:Ptprj	UTSW	2	90471137	missense	possibly damaging	0.48
R8354:Ptprj	UTSW	2	90469717	missense	probably benign	0.43
R8556:Ptprj	UTSW	2	90440700	missense	probably damaging	1.00
R8695:Ptprj	UTSW	2	90471137	missense	possibly damaging	0.48
R8784:Ptprj	UTSW	2	90460512	missense	possibly damaging	0.49
R8984:Ptprj	UTSW	2	90440643	missense	probably damaging	1.00
R9054:Ptprj	UTSW	2	90460640	missense	probably damaging	1.00
R9056:Ptprj	UTSW	2	90458269	missense	probably benign	0.00
R9147:Ptprj	UTSW	2	90458218	missense	probably benign	0.02
R9148:Ptprj	UTSW	2	90458218	missense	probably benign	0.02
R9168:Ptprj	UTSW	2	90464572	missense	possibly damaging	0.62
R9314:Ptprj	UTSW	2	90471287	missense	possibly damaging	0.87
R9337:Ptprj	UTSW	2	90439894	missense	probably damaging	1.00
R9546:Ptprj	UTSW	2	90444461	missense	probably benign	0.08
RF013:Ptprj	UTSW	2	90471170	nonsense	probably null
Z1177:Ptprj	UTSW	2	90460569	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCCTTTCTATAGTCTCAGGG -3'
(R):5'- AGGCCTGCTTGATTTCACTCAC -3'

Sequencing Primer
(F):5'- TCTCAGGGACTAAGGCCACAG -3'
(R):5'- CACCGTTGTGATACTGTCAGGTATC -3'

Posted On

2015-02-05