Mutagenetix > Incidental Mutation

Incidental Mutation 'R3768:Ptpru'

273105

Institutional Source

Beutler Lab

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase receptor type U

Synonyms

RPTPlambda, Ptprl

MMRRC Submission

040745-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3768 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131495768-131565599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 131535735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 414 (C414Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101607 (fasta)

Gene Model

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

AlphaFold

B1AUH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030741
AA Change: C414Y

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

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: C414Y

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 damaging
Transcript: ENSMUST00000097860
AA Change: C342Y

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

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: C342Y

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 damaging
Transcript: ENSMUST00000105987
AA Change: C414Y

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

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: C414Y

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

0.7112

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,204,217 (GRCm39)	R353G	probably benign	Het
Ank1	A	G	8: 23,606,202 (GRCm39)	D1153G	possibly damaging	Het
Ankrd12	T	C	17: 66,292,715 (GRCm39)	Y906C	probably benign	Het
Apol9a	G	C	15: 77,288,596 (GRCm39)	T257S	probably benign	Het
Arhgap23	A	T	11: 97,366,932 (GRCm39)	D1071V	probably damaging	Het
Arid4a	A	G	12: 71,113,893 (GRCm39)	K160R	probably damaging	Het
Atp8a2	T	A	14: 60,281,785 (GRCm39)	H142L	probably benign	Het
B3gnt2	T	C	11: 22,786,765 (GRCm39)	K141R	probably damaging	Het
Btbd7	G	A	12: 102,761,451 (GRCm39)	P578L	probably damaging	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cmya5	A	T	13: 93,233,201 (GRCm39)	I629K	possibly damaging	Het
Cnga4	A	G	7: 105,056,887 (GRCm39)	N330S	probably damaging	Het
Cplx4	T	C	18: 66,102,998 (GRCm39)	T41A	probably benign	Het
Cxcl15	A	C	5: 90,949,303 (GRCm39)	D156A	unknown	Het
D630045J12Rik	A	G	6: 38,119,844 (GRCm39)	S1633P	probably damaging	Het
Dock10	T	A	1: 80,510,085 (GRCm39)	N1581I	probably damaging	Het
Dock7	T	C	4: 98,859,066 (GRCm39)	T1409A	probably benign	Het
Dscaml1	T	A	9: 45,643,435 (GRCm39)	F1285I	possibly damaging	Het
Fgf10	G	T	13: 118,918,083 (GRCm39)	V124F	probably damaging	Het
Ifna7	T	C	4: 88,734,964 (GRCm39)	V167A	probably damaging	Het
Kctd19	T	C	8: 106,123,112 (GRCm39)	T101A	probably benign	Het
Klf3	A	G	5: 64,984,560 (GRCm39)		probably null	Het
Krtap12-1	G	T	10: 77,556,729 (GRCm39)	V91L	probably benign	Het
Lrp2	C	T	2: 69,335,449 (GRCm39)	D1425N	probably benign	Het
Mgl2	T	C	11: 70,026,659 (GRCm39)	L128P	probably damaging	Het
Mypn	C	A	10: 62,961,486 (GRCm39)	L1035F	possibly damaging	Het
Ncor2	A	G	5: 125,105,751 (GRCm39)	V1613A	probably damaging	Het
Nlgn2	C	T	11: 69,719,230 (GRCm39)	V207I	possibly damaging	Het
Or10v1	G	A	19: 11,873,676 (GRCm39)	G97D	probably damaging	Het
Or1ad6	A	G	11: 50,860,385 (GRCm39)	D180G	probably damaging	Het
Or2y14	T	C	11: 49,404,600 (GRCm39)	I45T	probably damaging	Het
Or4d10c	A	G	19: 12,065,304 (GRCm39)	I284T	probably damaging	Het
Osbpl3	G	A	6: 50,324,982 (GRCm39)	P172L	possibly damaging	Het
Pabpc4	T	A	4: 123,188,405 (GRCm39)	V338D	probably damaging	Het
Pdia6	T	C	12: 17,320,457 (GRCm39)	V32A	probably damaging	Het
Pik3c3	T	A	18: 30,466,326 (GRCm39)	S792R	probably damaging	Het
Pla2g5	C	G	4: 138,528,746 (GRCm39)	C70S	probably damaging	Het
Pole4	G	A	6: 82,599,095 (GRCm39)	R119C	possibly damaging	Het
Ppm1h	G	T	10: 122,740,027 (GRCm39)	L367F	probably damaging	Het
Rhot2	T	C	17: 26,059,521 (GRCm39)	D407G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sap25	T	A	5: 137,640,632 (GRCm39)	F171I	probably damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Tarm1	A	T	7: 3,546,097 (GRCm39)	S69T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp36	T	C	11: 118,153,878 (GRCm39)	K846R	probably damaging	Het
Zfp229	A	T	17: 21,964,844 (GRCm39)	H358L	probably damaging	Het
Zfp747l1	A	G	7: 126,984,035 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTGGAAGGTGACCTCCTTG -3'
(R):5'- TCTTCAGTTCTGAGGGTGCC -3'

Sequencing Primer
(F):5'- GAAGGTGACCTCCTTGCCCTC -3'
(R):5'- AGGGTGCCTGGAGTTCC -3'

Posted On

2015-03-25