Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00481:Ptpru'

6565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase receptor type U

Synonyms

RPTPlambda, Ptprl

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00481

Quality Score

Status

Chromosome

Chromosomal Location

131495768-131565599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131535546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 477 (V477A)

Ref Sequence

ENSEMBL: ENSMUSP00000101607 (fasta)

Gene Model

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

AlphaFold

B1AUH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030741
AA Change: V477A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: V477A

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
AA Change: V405A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: V405A

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
AA Change: V477A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: V477A

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

Coding Region Coverage

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, 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,969 (GRCm39)	L944P	probably damaging	Het
Akap13	A	G	7: 75,373,643 (GRCm39)	S1885G	probably damaging	Het
Aqp3	A	G	4: 41,093,632 (GRCm39)	Y261H	probably damaging	Het
Arap2	A	T	5: 62,793,305 (GRCm39)	N1380K	probably damaging	Het
Barx2	T	C	9: 31,758,141 (GRCm39)	I266V	unknown	Het
BC034090	C	T	1: 155,108,267 (GRCm39)	R360H	probably benign	Het
Bmal2	T	A	6: 146,711,164 (GRCm39)	M56K	probably benign	Het
Ccnb2	T	C	9: 70,326,189 (GRCm39)	K52E	probably damaging	Het
Ccp110	G	A	7: 118,329,220 (GRCm39)	V868I	possibly damaging	Het
Cfap300	T	C	9: 8,042,432 (GRCm39)	Y57C	probably damaging	Het
Cyld	G	T	8: 89,433,918 (GRCm39)	V236F	probably damaging	Het
Dst	T	C	1: 34,208,410 (GRCm39)		probably benign	Het
Ehmt1	G	T	2: 24,728,830 (GRCm39)	A637E	possibly damaging	Het
Erlin1	G	T	19: 44,057,758 (GRCm39)	Y22*	probably null	Het
Ezh1	A	T	11: 101,090,128 (GRCm39)	M539K	possibly damaging	Het
Fancc	A	T	13: 63,548,059 (GRCm39)	I80N	probably damaging	Het
Fat1	G	A	8: 45,503,977 (GRCm39)	S4447N	probably benign	Het
Fem1al	A	G	11: 29,774,755 (GRCm39)	L234P	probably damaging	Het
Fhip2a	A	G	19: 57,369,777 (GRCm39)	E440G	probably benign	Het
Frem3	A	G	8: 81,395,439 (GRCm39)	Q1822R	possibly damaging	Het
Iqgap1	C	T	7: 80,409,592 (GRCm39)	V248I	probably benign	Het
Itch	T	C	2: 155,054,943 (GRCm39)	I749T	probably damaging	Het
Kcna10	T	A	3: 107,102,830 (GRCm39)	M487K	probably benign	Het
Krt87	A	T	15: 101,386,092 (GRCm39)	L223Q	probably benign	Het
Mtmr2	T	C	9: 13,697,212 (GRCm39)	I84T	probably benign	Het
Myocd	G	A	11: 65,077,980 (GRCm39)	T477M	probably damaging	Het
Nfic	A	T	10: 81,244,054 (GRCm39)	V240E	possibly damaging	Het
Or4d2	A	G	11: 87,784,447 (GRCm39)	I101T	possibly damaging	Het
Prkdc	A	T	16: 15,608,330 (GRCm39)	Y3044F	probably benign	Het
Prkg1	A	G	19: 30,549,022 (GRCm39)	I636T	probably benign	Het
Rab7b	T	A	1: 131,626,329 (GRCm39)	M119K	possibly damaging	Het
Sec61a1	T	C	6: 88,483,922 (GRCm39)		probably benign	Het
Sectm1b	A	G	11: 120,946,799 (GRCm39)	V32A	probably benign	Het
Shroom2	A	G	X: 151,406,219 (GRCm39)	S1034P	probably benign	Het
Sipa1l3	A	T	7: 29,085,533 (GRCm39)	I688N	probably damaging	Het
Slc24a1	T	C	9: 64,835,301 (GRCm39)	Y942C	probably damaging	Het
Smg1	C	T	7: 117,810,017 (GRCm39)	R139K	possibly damaging	Het
Stt3b	G	A	9: 115,080,915 (GRCm39)	T574I	probably benign	Het
Thoc2	A	G	X: 40,968,768 (GRCm39)	I76T	possibly damaging	Het
Tpm3	C	T	3: 89,995,024 (GRCm39)	T180M	probably damaging	Het
Uqcrfs1	C	A	13: 30,724,908 (GRCm39)	V211F	probably benign	Het
Usp47	A	G	7: 111,673,990 (GRCm39)	S418G	probably benign	Het
Usp5	T	C	6: 124,806,316 (GRCm39)	T15A	probably benign	Het
Vps13c	T	C	9: 67,768,147 (GRCm39)	L122P	probably damaging	Het
Zfp677	A	T	17: 21,617,930 (GRCm39)	E329V	probably benign	Het
Zfyve16	A	T	13: 92,653,046 (GRCm39)	N846K	possibly damaging	Het
Zp1	G	T	19: 10,896,141 (GRCm39)	P195T	probably damaging	Het

Other mutations in Ptpru

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Ptpru	APN	4	131,499,927 (GRCm39)	missense	probably damaging	1.00
IGL01451:Ptpru	APN	4	131,496,803 (GRCm39)	utr 3 prime	probably benign
IGL01453:Ptpru	APN	4	131,496,803 (GRCm39)	utr 3 prime	probably benign
IGL01606:Ptpru	APN	4	131,535,792 (GRCm39)	missense	possibly damaging	0.69
IGL02451:Ptpru	APN	4	131,504,086 (GRCm39)	splice site	probably benign
IGL03135:Ptpru	APN	4	131,546,111 (GRCm39)	missense	probably damaging	0.97
IGL03366:Ptpru	APN	4	131,507,178 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Ptpru	UTSW	4	131,527,023 (GRCm39)	missense	probably benign	0.03
PIT4576001:Ptpru	UTSW	4	131,529,855 (GRCm39)	nonsense	probably null
R0299:Ptpru	UTSW	4	131,530,698 (GRCm39)	nonsense	probably null
R0458:Ptpru	UTSW	4	131,526,986 (GRCm39)	missense	possibly damaging	0.49
R0502:Ptpru	UTSW	4	131,520,954 (GRCm39)	missense	probably benign	0.02
R0503:Ptpru	UTSW	4	131,520,954 (GRCm39)	missense	probably benign	0.02
R0619:Ptpru	UTSW	4	131,548,198 (GRCm39)	missense	possibly damaging	0.91
R0639:Ptpru	UTSW	4	131,498,490 (GRCm39)	missense	possibly damaging	0.49
R0843:Ptpru	UTSW	4	131,525,259 (GRCm39)	missense	probably benign	0.10
R1065:Ptpru	UTSW	4	131,535,651 (GRCm39)	missense	possibly damaging	0.49
R1170:Ptpru	UTSW	4	131,535,838 (GRCm39)	splice site	probably benign
R1382:Ptpru	UTSW	4	131,535,540 (GRCm39)	missense	probably damaging	0.98
R1442:Ptpru	UTSW	4	131,535,580 (GRCm39)	missense	probably benign	0.00
R1538:Ptpru	UTSW	4	131,501,662 (GRCm39)	missense	probably damaging	0.99
R1624:Ptpru	UTSW	4	131,499,861 (GRCm39)	missense	probably damaging	1.00
R1688:Ptpru	UTSW	4	131,514,656 (GRCm39)	missense	probably benign	0.01
R1699:Ptpru	UTSW	4	131,506,361 (GRCm39)	missense	probably damaging	1.00
R1740:Ptpru	UTSW	4	131,520,989 (GRCm39)	splice site	probably null
R1874:Ptpru	UTSW	4	131,497,066 (GRCm39)	missense	probably benign
R1959:Ptpru	UTSW	4	131,530,788 (GRCm39)	missense	probably damaging	1.00
R2051:Ptpru	UTSW	4	131,546,398 (GRCm39)	missense	possibly damaging	0.80
R2200:Ptpru	UTSW	4	131,548,124 (GRCm39)	missense	probably damaging	1.00
R2281:Ptpru	UTSW	4	131,535,810 (GRCm39)	missense	probably damaging	1.00
R2304:Ptpru	UTSW	4	131,499,879 (GRCm39)	missense	probably damaging	1.00
R2411:Ptpru	UTSW	4	131,498,780 (GRCm39)	missense	probably damaging	1.00
R2845:Ptpru	UTSW	4	131,546,972 (GRCm39)	missense	probably benign	0.00
R3767:Ptpru	UTSW	4	131,535,735 (GRCm39)	missense	probably damaging	1.00
R3768:Ptpru	UTSW	4	131,535,735 (GRCm39)	missense	probably damaging	1.00
R3769:Ptpru	UTSW	4	131,535,735 (GRCm39)	missense	probably damaging	1.00
R3770:Ptpru	UTSW	4	131,535,735 (GRCm39)	missense	probably damaging	1.00
R3937:Ptpru	UTSW	4	131,501,615 (GRCm39)	missense	probably damaging	0.99
R4079:Ptpru	UTSW	4	131,526,021 (GRCm39)	critical splice donor site	probably null
R4110:Ptpru	UTSW	4	131,546,348 (GRCm39)	missense	probably damaging	1.00
R4170:Ptpru	UTSW	4	131,503,659 (GRCm39)	missense	probably damaging	1.00
R4716:Ptpru	UTSW	4	131,548,279 (GRCm39)	missense	probably benign
R4751:Ptpru	UTSW	4	131,529,897 (GRCm39)	missense	probably damaging	0.97
R4766:Ptpru	UTSW	4	131,548,275 (GRCm39)	missense	probably damaging	1.00
R4825:Ptpru	UTSW	4	131,526,914 (GRCm39)	missense	probably benign
R4900:Ptpru	UTSW	4	131,515,693 (GRCm39)	missense	probably damaging	0.99
R4998:Ptpru	UTSW	4	131,504,196 (GRCm39)	missense	probably damaging	1.00
R5279:Ptpru	UTSW	4	131,547,334 (GRCm39)	missense	possibly damaging	0.62
R5464:Ptpru	UTSW	4	131,499,868 (GRCm39)	missense	probably damaging	1.00
R5625:Ptpru	UTSW	4	131,530,691 (GRCm39)	missense	probably null	1.00
R5667:Ptpru	UTSW	4	131,547,501 (GRCm39)	missense	possibly damaging	0.94
R5671:Ptpru	UTSW	4	131,547,501 (GRCm39)	missense	possibly damaging	0.94
R5735:Ptpru	UTSW	4	131,565,401 (GRCm39)	missense	probably benign	0.01
R5802:Ptpru	UTSW	4	131,515,688 (GRCm39)	missense	possibly damaging	0.84
R5809:Ptpru	UTSW	4	131,513,067 (GRCm39)	missense	probably benign	0.34
R5953:Ptpru	UTSW	4	131,504,148 (GRCm39)	missense	probably damaging	1.00
R5973:Ptpru	UTSW	4	131,546,236 (GRCm39)	missense	probably benign	0.00
R6029:Ptpru	UTSW	4	131,498,604 (GRCm39)	missense	probably damaging	1.00
R6072:Ptpru	UTSW	4	131,503,539 (GRCm39)	missense	probably damaging	0.99
R6089:Ptpru	UTSW	4	131,499,941 (GRCm39)	missense	possibly damaging	0.94
R6174:Ptpru	UTSW	4	131,513,065 (GRCm39)	missense	probably benign
R6177:Ptpru	UTSW	4	131,520,836 (GRCm39)	missense	probably benign	0.00
R6367:Ptpru	UTSW	4	131,501,663 (GRCm39)	missense	probably benign	0.18
R6682:Ptpru	UTSW	4	131,548,093 (GRCm39)	missense	probably benign
R6950:Ptpru	UTSW	4	131,503,663 (GRCm39)	missense	probably damaging	0.99
R7159:Ptpru	UTSW	4	131,546,851 (GRCm39)	missense	probably damaging	1.00
R7736:Ptpru	UTSW	4	131,515,693 (GRCm39)	missense	probably damaging	1.00
R7960:Ptpru	UTSW	4	131,515,820 (GRCm39)	missense	probably benign	0.01
R8094:Ptpru	UTSW	4	131,520,903 (GRCm39)	missense	possibly damaging	0.88
R8262:Ptpru	UTSW	4	131,522,274 (GRCm39)	nonsense	probably null
R8276:Ptpru	UTSW	4	131,506,484 (GRCm39)	missense	probably damaging	1.00
R8355:Ptpru	UTSW	4	131,535,811 (GRCm39)	missense	probably damaging	1.00
R8377:Ptpru	UTSW	4	131,535,646 (GRCm39)	missense	probably damaging	1.00
R8416:Ptpru	UTSW	4	131,535,783 (GRCm39)	missense	probably damaging	1.00
R8858:Ptpru	UTSW	4	131,526,825 (GRCm39)	splice site	probably benign
R8911:Ptpru	UTSW	4	131,503,560 (GRCm39)	missense	probably damaging	0.96
R8934:Ptpru	UTSW	4	131,546,297 (GRCm39)	missense	probably damaging	0.98
R9031:Ptpru	UTSW	4	131,515,691 (GRCm39)	missense	probably damaging	1.00
R9069:Ptpru	UTSW	4	131,503,565 (GRCm39)	missense	possibly damaging	0.87
R9096:Ptpru	UTSW	4	131,499,843 (GRCm39)	missense	probably damaging	1.00
R9097:Ptpru	UTSW	4	131,499,843 (GRCm39)	missense	probably damaging	1.00
R9151:Ptpru	UTSW	4	131,522,278 (GRCm39)	missense	probably benign
R9166:Ptpru	UTSW	4	131,525,180 (GRCm39)	missense	probably benign	0.00
R9174:Ptpru	UTSW	4	131,535,746 (GRCm39)	missense	probably damaging	1.00
R9242:Ptpru	UTSW	4	131,530,341 (GRCm39)	missense	probably damaging	1.00
R9698:Ptpru	UTSW	4	131,547,531 (GRCm39)	missense	probably benign	0.09
X0024:Ptpru	UTSW	4	131,498,501 (GRCm39)	missense	probably benign	0.15
Z1177:Ptpru	UTSW	4	131,535,573 (GRCm39)	missense	probably damaging	0.99
Z1177:Ptpru	UTSW	4	131,527,017 (GRCm39)	missense	probably benign	0.00

Posted On

2012-04-20