Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01606:Ptpru'

93437

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 #

IGL01606

Quality Score

Status

Chromosome

Chromosomal Location

131495768-131565599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131535792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 395 (I395N)

Ref Sequence

ENSEMBL: ENSMUSP00000101607 (fasta)

Gene Model

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

AlphaFold

B1AUH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030741
AA Change: I395N

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: I395N

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: I323N

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: I323N

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

possibly damaging
Transcript: ENSMUST00000105987
AA Change: I395N

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: I395N

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	G	17: 15,164,125 (GRCm39)	D84G	probably damaging	Het
Adat3	A	T	10: 80,443,172 (GRCm39)	I337F	probably damaging	Het
Carmil3	T	A	14: 55,731,306 (GRCm39)	N128K	possibly damaging	Het
Ceacam2	T	C	7: 25,230,132 (GRCm39)	E158G	possibly damaging	Het
Cel	T	C	2: 28,450,576 (GRCm39)	I150V	probably benign	Het
Chd5	A	G	4: 152,445,432 (GRCm39)	H441R	probably damaging	Het
Clic5	G	T	17: 44,559,633 (GRCm39)	R109L	probably benign	Het
Cpd	T	C	11: 76,703,466 (GRCm39)	M466V	probably benign	Het
Cyp39a1	T	A	17: 44,057,509 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,946,767 (GRCm39)	A3106S	probably benign	Het
Fasn	A	C	11: 120,699,849 (GRCm39)		probably null	Het
Fat1	G	A	8: 45,476,086 (GRCm39)	V1688I	probably benign	Het
Fibcd1	A	G	2: 31,723,865 (GRCm39)	I258T	probably benign	Het
Frem2	C	A	3: 53,561,012 (GRCm39)	R1165I	possibly damaging	Het
Gm5627	C	T	9: 102,626,685 (GRCm39)		noncoding transcript	Het
Gm5862	T	A	5: 26,224,514 (GRCm39)	T152S	probably benign	Het
Gnb3	T	A	6: 124,814,218 (GRCm39)	D154V	probably damaging	Het
Ighv1-14	T	C	12: 114,610,457 (GRCm39)		noncoding transcript	Het
Klrb1	C	A	6: 128,699,968 (GRCm39)	E14D	probably benign	Het
Osbpl1a	A	T	18: 12,889,271 (GRCm39)	D556E	possibly damaging	Het
Pkd1	T	C	17: 24,795,497 (GRCm39)	V2330A	probably damaging	Het
Pkdrej	T	C	15: 85,701,901 (GRCm39)	K1345R	possibly damaging	Het
Plxna4	A	G	6: 32,134,936 (GRCm39)	F1756L	probably damaging	Het
Psg28	A	C	7: 18,164,296 (GRCm39)	S139A	probably benign	Het
Reps1	A	G	10: 17,983,435 (GRCm39)	E426G	probably damaging	Het
Rtp4	T	A	16: 23,432,004 (GRCm39)	S179T	probably benign	Het
Sh3pxd2a	C	A	19: 47,257,035 (GRCm39)	R561L	probably benign	Het
Slc29a2	T	A	19: 5,077,467 (GRCm39)	L215Q	possibly damaging	Het
Slc44a4	T	C	17: 35,147,994 (GRCm39)	F653L	probably damaging	Het
Sulf1	G	T	1: 12,906,428 (GRCm39)	R490L	possibly damaging	Het
Ttll4	T	C	1: 74,725,052 (GRCm39)	L602P	probably damaging	Het
Ttn	A	G	2: 76,607,134 (GRCm39)	V17963A	probably damaging	Het
Urb1	A	G	16: 90,557,347 (GRCm39)	S1760P	probably damaging	Het
Zmynd11	G	A	13: 9,747,724 (GRCm39)	R149W	probably damaging	Het

Other mutations in Ptpru

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Ptpru	APN	4	131,535,546 (GRCm39)	missense	probably benign	0.00
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
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

2013-12-09