Mutagenetix > Incidental Mutation

Incidental Mutation 'R0843:Ptpru'

77246

Institutional Source

Beutler Lab

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase receptor type U

Synonyms

RPTPlambda, Ptprl

MMRRC Submission

039022-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0843 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131495768-131565599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 131525259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 741 (R741S)

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: R741S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: R741S

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: R669S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: R669S

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: R741S

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: R741S

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: ENSMUST00000123878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154224

Meta Mutation Damage Score

0.0757

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.5%
20x: 92.6%

Validation Efficiency

98% (40/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb2	T	C	18: 62,312,142 (GRCm39)	R228G	probably benign	Het
Arrdc3	T	C	13: 81,038,922 (GRCm39)		probably benign	Het
Cacna1d	T	C	14: 29,846,828 (GRCm39)	Y526C	probably damaging	Het
Cenpn	T	C	8: 117,660,045 (GRCm39)	V125A	probably benign	Het
Cyfip1	A	T	7: 55,572,568 (GRCm39)	H963L	probably benign	Het
Dnah8	T	C	17: 31,032,069 (GRCm39)	Y4130H	probably damaging	Het
Dnmt3a	T	C	12: 3,922,886 (GRCm39)		probably benign	Het
Dync1h1	C	T	12: 110,631,647 (GRCm39)	T4448M	possibly damaging	Het
Efr3a	T	A	15: 65,709,272 (GRCm39)		probably benign	Het
Fgf11	T	G	11: 69,689,602 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,161,717 (GRCm39)	I347N	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Hspa1b	T	A	17: 35,176,524 (GRCm39)	N487I	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Iqgap3	A	G	3: 88,015,738 (GRCm39)	D40G	possibly damaging	Het
Iyd	T	C	10: 3,495,663 (GRCm39)	V107A	possibly damaging	Het
Kctd3	A	T	1: 188,729,170 (GRCm39)	L129*	probably null	Het
Myo7b	A	G	18: 32,107,137 (GRCm39)	F1286S	possibly damaging	Het
Or4a47	C	T	2: 89,665,960 (GRCm39)	V110I	probably benign	Het
Or52s1b	T	A	7: 102,822,326 (GRCm39)	T173S	possibly damaging	Het
Or8c15	T	A	9: 38,120,579 (GRCm39)	F77I	possibly damaging	Het
Pcsk5	T	A	19: 17,632,182 (GRCm39)	Y328F	probably damaging	Het
Plxnb1	T	C	9: 108,942,769 (GRCm39)	L1810P	probably benign	Het
Polr2h	T	A	16: 20,537,649 (GRCm39)	V50E	probably damaging	Het
Ppm1g	T	C	5: 31,364,895 (GRCm39)		probably benign	Het
Pyroxd2	T	C	19: 42,735,986 (GRCm39)	E64G	probably damaging	Het
Rad54b	T	C	4: 11,609,471 (GRCm39)		probably null	Het
Rangap1	A	T	15: 81,594,703 (GRCm39)	D375E	probably benign	Het
Rhbdf1	G	A	11: 32,165,053 (GRCm39)	R107C	probably damaging	Het
Scaf11	T	C	15: 96,329,706 (GRCm39)	E140G	probably damaging	Het
Slitrk6	G	T	14: 110,987,530 (GRCm39)	H726N	probably benign	Het
Spry2	A	G	14: 106,130,524 (GRCm39)	C221R	probably damaging	Het
Stx2	C	T	5: 129,076,612 (GRCm39)	V24M	probably damaging	Het
Tent5b	T	C	4: 133,213,842 (GRCm39)	S238P	probably damaging	Het
Tll2	T	A	19: 41,116,902 (GRCm39)		probably null	Het
Ttyh3	C	A	5: 140,612,201 (GRCm39)		probably null	Het
Vmn2r116	T	C	17: 23,619,934 (GRCm39)	V556A	probably benign	Het
Xpo5	T	C	17: 46,533,576 (GRCm39)		probably benign	Het
Zc3h3	A	G	15: 75,709,328 (GRCm39)	S514P	probably benign	Het
Zfp277	A	C	12: 40,370,599 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACAATGGCTGAGTCTCTGACTCCC -3'
(R):5'- CTCTGGTTGAACAGTGGAGCAGTG -3'

Sequencing Primer
(F):5'- CCAGTGTGTGTTAATCCACAG -3'
(R):5'- CAGTGCCTAGATGCAGAGC -3'

Posted On

2013-10-16