Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Ptpru'

99285

Institutional Source

Beutler Lab

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase, receptor type, U

Synonyms

Ptprl, RPTPlambda

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131768457-131838288 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 131808527 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030741] [ENSMUST00000097860] [ENSMUST00000105987]

AlphaFold

B1AUH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030741

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MAM	22	188	5.58e-68	SMART
IG	195	283	4.93e-3	SMART
FN3	285	368	3.79e-2	SMART
FN3	384	472	2.5e-2	SMART
FN3	488	576	3.62e-8	SMART
low complexity region	627	641	N/A	INTRINSIC
low complexity region	667	677	N/A	INTRINSIC
transmembrane domain	747	769	N/A	INTRINSIC
PTPc	893	1146	5.95e-102	SMART
PTPc	1175	1441	3.67e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097860

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909

Domain	Start	End	E-Value	Type
Pfam:MAM	1	116	4.1e-30	PFAM
IG	123	211	4.93e-3	SMART
FN3	213	296	3.79e-2	SMART
FN3	312	400	2.5e-2	SMART
FN3	416	504	3.62e-8	SMART
low complexity region	555	569	N/A	INTRINSIC
low complexity region	595	605	N/A	INTRINSIC
transmembrane domain	675	697	N/A	INTRINSIC
Blast:PTPc	736	878	3e-49	BLAST
SCOP:d1jlna_	790	886	9e-19	SMART
PDB:2C7S\|A	797	878	7e-22	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000105987

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MAM	22	188	5.58e-68	SMART
IG	195	283	4.93e-3	SMART
FN3	285	368	3.79e-2	SMART
FN3	384	472	2.5e-2	SMART
FN3	488	576	3.62e-8	SMART
low complexity region	627	641	N/A	INTRINSIC
low complexity region	667	677	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
PTPc	883	1136	5.95e-102	SMART
PTPc	1165	1431	3.67e-93	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139641

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

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 two tandem intracellular catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP (MAM) domain, Ig-like and fibronectin type III-like repeats. This PTP was thought to play roles in cell-cell recognition and adhesion. Studies of the similar gene in mice suggested the role of this PTP in early neural development. The expression of this gene was reported to be regulated by phorbol myristate acetate (PMA) or calcium ionophore in Jurkat T lymphoma cells. Alternatively spliced transcript variants have been reported. [provided by RefSeq, Aug 2010]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Mdm4	A	T	1: 132,991,820	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Ptpru

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Ptpru	APN	4	131808235	missense	probably benign	0.00
IGL00966:Ptpru	APN	4	131772616	missense	probably damaging	1.00
IGL01451:Ptpru	APN	4	131769492	utr 3 prime	probably benign
IGL01453:Ptpru	APN	4	131769492	utr 3 prime	probably benign
IGL01606:Ptpru	APN	4	131808481	missense	possibly damaging	0.69
IGL02451:Ptpru	APN	4	131776775	splice site	probably benign
IGL03135:Ptpru	APN	4	131818800	missense	probably damaging	0.97
IGL03366:Ptpru	APN	4	131779867	missense	probably damaging	1.00
PIT4366001:Ptpru	UTSW	4	131799712	missense	probably benign	0.03
PIT4576001:Ptpru	UTSW	4	131802544	nonsense	probably null
R0299:Ptpru	UTSW	4	131803387	nonsense	probably null
R0458:Ptpru	UTSW	4	131799675	missense	possibly damaging	0.49
R0502:Ptpru	UTSW	4	131793643	missense	probably benign	0.02
R0503:Ptpru	UTSW	4	131793643	missense	probably benign	0.02
R0619:Ptpru	UTSW	4	131820887	missense	possibly damaging	0.91
R0639:Ptpru	UTSW	4	131771179	missense	possibly damaging	0.49
R0843:Ptpru	UTSW	4	131797948	missense	probably benign	0.10
R1065:Ptpru	UTSW	4	131808340	missense	possibly damaging	0.49
R1382:Ptpru	UTSW	4	131808229	missense	probably damaging	0.98
R1442:Ptpru	UTSW	4	131808269	missense	probably benign	0.00
R1538:Ptpru	UTSW	4	131774351	missense	probably damaging	0.99
R1624:Ptpru	UTSW	4	131772550	missense	probably damaging	1.00
R1688:Ptpru	UTSW	4	131787345	missense	probably benign	0.01
R1699:Ptpru	UTSW	4	131779050	missense	probably damaging	1.00
R1740:Ptpru	UTSW	4	131793678	splice site	probably null
R1874:Ptpru	UTSW	4	131769755	missense	probably benign
R1959:Ptpru	UTSW	4	131803477	missense	probably damaging	1.00
R2051:Ptpru	UTSW	4	131819087	missense	possibly damaging	0.80
R2200:Ptpru	UTSW	4	131820813	missense	probably damaging	1.00
R2281:Ptpru	UTSW	4	131808499	missense	probably damaging	1.00
R2304:Ptpru	UTSW	4	131772568	missense	probably damaging	1.00
R2411:Ptpru	UTSW	4	131771469	missense	probably damaging	1.00
R2845:Ptpru	UTSW	4	131819661	missense	probably benign	0.00
R3767:Ptpru	UTSW	4	131808424	missense	probably damaging	1.00
R3768:Ptpru	UTSW	4	131808424	missense	probably damaging	1.00
R3769:Ptpru	UTSW	4	131808424	missense	probably damaging	1.00
R3770:Ptpru	UTSW	4	131808424	missense	probably damaging	1.00
R3937:Ptpru	UTSW	4	131774304	missense	probably damaging	0.99
R4079:Ptpru	UTSW	4	131798710	critical splice donor site	probably null
R4110:Ptpru	UTSW	4	131819037	missense	probably damaging	1.00
R4170:Ptpru	UTSW	4	131776348	missense	probably damaging	1.00
R4716:Ptpru	UTSW	4	131820968	missense	probably benign
R4751:Ptpru	UTSW	4	131802586	missense	probably damaging	0.97
R4766:Ptpru	UTSW	4	131820964	missense	probably damaging	1.00
R4825:Ptpru	UTSW	4	131799603	missense	probably benign
R4900:Ptpru	UTSW	4	131788382	missense	probably damaging	0.99
R4998:Ptpru	UTSW	4	131776885	missense	probably damaging	1.00
R5279:Ptpru	UTSW	4	131820023	missense	possibly damaging	0.62
R5464:Ptpru	UTSW	4	131772557	missense	probably damaging	1.00
R5625:Ptpru	UTSW	4	131803380	missense	probably null	1.00
R5667:Ptpru	UTSW	4	131820190	missense	possibly damaging	0.94
R5671:Ptpru	UTSW	4	131820190	missense	possibly damaging	0.94
R5735:Ptpru	UTSW	4	131838090	missense	probably benign	0.01
R5802:Ptpru	UTSW	4	131788377	missense	possibly damaging	0.84
R5809:Ptpru	UTSW	4	131785756	missense	probably benign	0.34
R5953:Ptpru	UTSW	4	131776837	missense	probably damaging	1.00
R5973:Ptpru	UTSW	4	131818925	missense	probably benign	0.00
R6029:Ptpru	UTSW	4	131771293	missense	probably damaging	1.00
R6072:Ptpru	UTSW	4	131776228	missense	probably damaging	0.99
R6089:Ptpru	UTSW	4	131772630	missense	possibly damaging	0.94
R6174:Ptpru	UTSW	4	131785754	missense	probably benign
R6177:Ptpru	UTSW	4	131793525	missense	probably benign	0.00
R6367:Ptpru	UTSW	4	131774352	missense	probably benign	0.18
R6682:Ptpru	UTSW	4	131820782	missense	probably benign
R6950:Ptpru	UTSW	4	131776352	missense	probably damaging	0.99
R7159:Ptpru	UTSW	4	131819540	missense	probably damaging	1.00
R7736:Ptpru	UTSW	4	131788382	missense	probably damaging	1.00
R7960:Ptpru	UTSW	4	131788509	missense	probably benign	0.01
R8094:Ptpru	UTSW	4	131793592	missense	possibly damaging	0.88
R8262:Ptpru	UTSW	4	131794963	nonsense	probably null
R8276:Ptpru	UTSW	4	131779173	missense	probably damaging	1.00
R8355:Ptpru	UTSW	4	131808500	missense	probably damaging	1.00
R8377:Ptpru	UTSW	4	131808335	missense	probably damaging	1.00
R8416:Ptpru	UTSW	4	131808472	missense	probably damaging	1.00
R8858:Ptpru	UTSW	4	131799514	splice site	probably benign
R8911:Ptpru	UTSW	4	131776249	missense	probably damaging	0.96
R8934:Ptpru	UTSW	4	131818986	missense	probably damaging	0.98
R9031:Ptpru	UTSW	4	131788380	missense	probably damaging	1.00
R9069:Ptpru	UTSW	4	131776254	missense	possibly damaging	0.87
R9096:Ptpru	UTSW	4	131772532	missense	probably damaging	1.00
R9097:Ptpru	UTSW	4	131772532	missense	probably damaging	1.00
R9151:Ptpru	UTSW	4	131794967	missense	probably benign
R9166:Ptpru	UTSW	4	131797869	missense	probably benign	0.00
R9174:Ptpru	UTSW	4	131808435	missense	probably damaging	1.00
R9242:Ptpru	UTSW	4	131803030	missense	probably damaging	1.00
R9698:Ptpru	UTSW	4	131820220	missense	probably benign	0.09
X0024:Ptpru	UTSW	4	131771190	missense	probably benign	0.15
Z1177:Ptpru	UTSW	4	131799706	missense	probably benign	0.00
Z1177:Ptpru	UTSW	4	131808262	missense	probably damaging	0.99

Predicted Primers

Posted On

2014-01-15