Mutagenetix > Incidental Mutation

Incidental Mutation 'R1065:Ptpru'

85957

Institutional Source

Beutler Lab

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase, receptor type, U

Synonyms

Ptprl, RPTPlambda

MMRRC Submission

039151-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1065 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131768457-131838288 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131808340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 370 (E370G)

Ref Sequence

ENSEMBL: ENSMUSP00000095472 (fasta)

Gene Model

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

AlphaFold

B1AUH1

Predicted Effect

probably benign
Transcript: ENSMUST00000030741
AA Change: E442G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: E442G

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

possibly damaging
Transcript: ENSMUST00000097860
AA Change: E370G

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095472
Gene: ENSMUSG00000028909
AA Change: E370G

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: E442G

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: E442G

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

0.1182

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (36/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	A	G	6: 129,323,050 (GRCm38)	I155T	possibly damaging	Het
Cd300ld2	T	C	11: 115,013,760 (GRCm38)	T94A	probably damaging	Het
Cdc42bpg	G	A	19: 6,322,826 (GRCm38)	S1515N	probably damaging	Het
Ckb	T	C	12: 111,671,247 (GRCm38)	E150G	probably benign	Het
Cobl	T	A	11: 12,254,327 (GRCm38)	M785L	possibly damaging	Het
Col6a5	T	C	9: 105,881,783 (GRCm38)	N2075D	probably damaging	Het
Commd7	G	C	2: 153,619,527 (GRCm38)		probably benign	Het
Corin	G	A	5: 72,301,650 (GRCm38)	R927*	probably null	Het
Ift122	A	T	6: 115,875,325 (GRCm38)		probably null	Het
Il1b	G	A	2: 129,368,007 (GRCm38)	T83I	probably benign	Het
Ints4	T	C	7: 97,507,892 (GRCm38)		probably null	Het
Msh6	T	G	17: 87,988,463 (GRCm38)		probably benign	Het
Mtmr3	T	C	11: 4,492,859 (GRCm38)	K392E	probably damaging	Het
Olfr1094	A	G	2: 86,829,544 (GRCm38)	H264R	probably damaging	Het
Pde3a	T	C	6: 141,476,732 (GRCm38)		probably benign	Het
Pde6h	A	C	6: 136,959,370 (GRCm38)	K37T	probably damaging	Het
Plat	C	A	8: 22,776,863 (GRCm38)	D290E	probably damaging	Het
Polk	A	C	13: 96,508,252 (GRCm38)	L122R	probably damaging	Het
Ppp1r3g	T	A	13: 35,969,435 (GRCm38)	D279E	probably benign	Het
Ralgapa2	T	C	2: 146,450,558 (GRCm38)	Y187C	probably benign	Het
Rps6ka2	C	T	17: 7,281,758 (GRCm38)		probably benign	Het
Slit3	T	C	11: 35,121,635 (GRCm38)	S41P	possibly damaging	Het
Smarca5	A	T	8: 80,704,714 (GRCm38)	L958Q	probably damaging	Het
Snx9	T	C	17: 5,902,361 (GRCm38)		probably benign	Het
Stkld1	A	T	2: 26,940,038 (GRCm38)	N72I	probably damaging	Het
Strc	C	A	2: 121,366,651 (GRCm38)	D1532Y	probably damaging	Het
Sucla2	C	T	14: 73,560,634 (GRCm38)		probably benign	Het
Svil	T	G	18: 5,063,777 (GRCm38)		probably benign	Het
Traf3ip1	T	A	1: 91,500,784 (GRCm38)	D122E	unknown	Het
Vmn2r7	A	T	3: 64,707,138 (GRCm38)	D509E	possibly damaging	Het
Vps52	C	A	17: 33,961,239 (GRCm38)	Q306K	probably benign	Het
Wdr60	C	T	12: 116,256,076 (GRCm38)	R82H	probably damaging	Het
Zfp407	C	T	18: 84,559,773 (GRCm38)	A1072T	probably benign	Het
Zfp418	C	A	7: 7,181,562 (GRCm38)	Q175K	probably benign	Het
Zxdc	T	C	6: 90,378,903 (GRCm38)	S465P	probably damaging	Het

Other mutations in Ptpru

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Ptpru	APN	4	131,808,235 (GRCm38)	missense	probably benign	0.00
IGL00966:Ptpru	APN	4	131,772,616 (GRCm38)	missense	probably damaging	1.00
IGL01451:Ptpru	APN	4	131,769,492 (GRCm38)	utr 3 prime	probably benign
IGL01453:Ptpru	APN	4	131,769,492 (GRCm38)	utr 3 prime	probably benign
IGL01606:Ptpru	APN	4	131,808,481 (GRCm38)	missense	possibly damaging	0.69
IGL02451:Ptpru	APN	4	131,776,775 (GRCm38)	splice site	probably benign
IGL03135:Ptpru	APN	4	131,818,800 (GRCm38)	missense	probably damaging	0.97
IGL03366:Ptpru	APN	4	131,779,867 (GRCm38)	missense	probably damaging	1.00
PIT4366001:Ptpru	UTSW	4	131,799,712 (GRCm38)	missense	probably benign	0.03
PIT4576001:Ptpru	UTSW	4	131,802,544 (GRCm38)	nonsense	probably null
R0299:Ptpru	UTSW	4	131,803,387 (GRCm38)	nonsense	probably null
R0458:Ptpru	UTSW	4	131,799,675 (GRCm38)	missense	possibly damaging	0.49
R0502:Ptpru	UTSW	4	131,793,643 (GRCm38)	missense	probably benign	0.02
R0503:Ptpru	UTSW	4	131,793,643 (GRCm38)	missense	probably benign	0.02
R0619:Ptpru	UTSW	4	131,820,887 (GRCm38)	missense	possibly damaging	0.91
R0639:Ptpru	UTSW	4	131,771,179 (GRCm38)	missense	possibly damaging	0.49
R0843:Ptpru	UTSW	4	131,797,948 (GRCm38)	missense	probably benign	0.10
R1170:Ptpru	UTSW	4	131,808,527 (GRCm38)	splice site	probably benign
R1382:Ptpru	UTSW	4	131,808,229 (GRCm38)	missense	probably damaging	0.98
R1442:Ptpru	UTSW	4	131,808,269 (GRCm38)	missense	probably benign	0.00
R1538:Ptpru	UTSW	4	131,774,351 (GRCm38)	missense	probably damaging	0.99
R1624:Ptpru	UTSW	4	131,772,550 (GRCm38)	missense	probably damaging	1.00
R1688:Ptpru	UTSW	4	131,787,345 (GRCm38)	missense	probably benign	0.01
R1699:Ptpru	UTSW	4	131,779,050 (GRCm38)	missense	probably damaging	1.00
R1740:Ptpru	UTSW	4	131,793,678 (GRCm38)	splice site	probably null
R1874:Ptpru	UTSW	4	131,769,755 (GRCm38)	missense	probably benign
R1959:Ptpru	UTSW	4	131,803,477 (GRCm38)	missense	probably damaging	1.00
R2051:Ptpru	UTSW	4	131,819,087 (GRCm38)	missense	possibly damaging	0.80
R2200:Ptpru	UTSW	4	131,820,813 (GRCm38)	missense	probably damaging	1.00
R2281:Ptpru	UTSW	4	131,808,499 (GRCm38)	missense	probably damaging	1.00
R2304:Ptpru	UTSW	4	131,772,568 (GRCm38)	missense	probably damaging	1.00
R2411:Ptpru	UTSW	4	131,771,469 (GRCm38)	missense	probably damaging	1.00
R2845:Ptpru	UTSW	4	131,819,661 (GRCm38)	missense	probably benign	0.00
R3767:Ptpru	UTSW	4	131,808,424 (GRCm38)	missense	probably damaging	1.00
R3768:Ptpru	UTSW	4	131,808,424 (GRCm38)	missense	probably damaging	1.00
R3769:Ptpru	UTSW	4	131,808,424 (GRCm38)	missense	probably damaging	1.00
R3770:Ptpru	UTSW	4	131,808,424 (GRCm38)	missense	probably damaging	1.00
R3937:Ptpru	UTSW	4	131,774,304 (GRCm38)	missense	probably damaging	0.99
R4079:Ptpru	UTSW	4	131,798,710 (GRCm38)	critical splice donor site	probably null
R4110:Ptpru	UTSW	4	131,819,037 (GRCm38)	missense	probably damaging	1.00
R4170:Ptpru	UTSW	4	131,776,348 (GRCm38)	missense	probably damaging	1.00
R4716:Ptpru	UTSW	4	131,820,968 (GRCm38)	missense	probably benign
R4751:Ptpru	UTSW	4	131,802,586 (GRCm38)	missense	probably damaging	0.97
R4766:Ptpru	UTSW	4	131,820,964 (GRCm38)	missense	probably damaging	1.00
R4825:Ptpru	UTSW	4	131,799,603 (GRCm38)	missense	probably benign
R4900:Ptpru	UTSW	4	131,788,382 (GRCm38)	missense	probably damaging	0.99
R4998:Ptpru	UTSW	4	131,776,885 (GRCm38)	missense	probably damaging	1.00
R5279:Ptpru	UTSW	4	131,820,023 (GRCm38)	missense	possibly damaging	0.62
R5464:Ptpru	UTSW	4	131,772,557 (GRCm38)	missense	probably damaging	1.00
R5625:Ptpru	UTSW	4	131,803,380 (GRCm38)	missense	probably null	1.00
R5667:Ptpru	UTSW	4	131,820,190 (GRCm38)	missense	possibly damaging	0.94
R5671:Ptpru	UTSW	4	131,820,190 (GRCm38)	missense	possibly damaging	0.94
R5735:Ptpru	UTSW	4	131,838,090 (GRCm38)	missense	probably benign	0.01
R5802:Ptpru	UTSW	4	131,788,377 (GRCm38)	missense	possibly damaging	0.84
R5809:Ptpru	UTSW	4	131,785,756 (GRCm38)	missense	probably benign	0.34
R5953:Ptpru	UTSW	4	131,776,837 (GRCm38)	missense	probably damaging	1.00
R5973:Ptpru	UTSW	4	131,818,925 (GRCm38)	missense	probably benign	0.00
R6029:Ptpru	UTSW	4	131,771,293 (GRCm38)	missense	probably damaging	1.00
R6072:Ptpru	UTSW	4	131,776,228 (GRCm38)	missense	probably damaging	0.99
R6089:Ptpru	UTSW	4	131,772,630 (GRCm38)	missense	possibly damaging	0.94
R6174:Ptpru	UTSW	4	131,785,754 (GRCm38)	missense	probably benign
R6177:Ptpru	UTSW	4	131,793,525 (GRCm38)	missense	probably benign	0.00
R6367:Ptpru	UTSW	4	131,774,352 (GRCm38)	missense	probably benign	0.18
R6682:Ptpru	UTSW	4	131,820,782 (GRCm38)	missense	probably benign
R6950:Ptpru	UTSW	4	131,776,352 (GRCm38)	missense	probably damaging	0.99
R7159:Ptpru	UTSW	4	131,819,540 (GRCm38)	missense	probably damaging	1.00
R7736:Ptpru	UTSW	4	131,788,382 (GRCm38)	missense	probably damaging	1.00
R7960:Ptpru	UTSW	4	131,788,509 (GRCm38)	missense	probably benign	0.01
R8094:Ptpru	UTSW	4	131,793,592 (GRCm38)	missense	possibly damaging	0.88
R8262:Ptpru	UTSW	4	131,794,963 (GRCm38)	nonsense	probably null
R8276:Ptpru	UTSW	4	131,779,173 (GRCm38)	missense	probably damaging	1.00
R8355:Ptpru	UTSW	4	131,808,500 (GRCm38)	missense	probably damaging	1.00
R8377:Ptpru	UTSW	4	131,808,335 (GRCm38)	missense	probably damaging	1.00
R8416:Ptpru	UTSW	4	131,808,472 (GRCm38)	missense	probably damaging	1.00
R8858:Ptpru	UTSW	4	131,799,514 (GRCm38)	splice site	probably benign
R8911:Ptpru	UTSW	4	131,776,249 (GRCm38)	missense	probably damaging	0.96
R8934:Ptpru	UTSW	4	131,818,986 (GRCm38)	missense	probably damaging	0.98
R9031:Ptpru	UTSW	4	131,788,380 (GRCm38)	missense	probably damaging	1.00
R9069:Ptpru	UTSW	4	131,776,254 (GRCm38)	missense	possibly damaging	0.87
R9096:Ptpru	UTSW	4	131,772,532 (GRCm38)	missense	probably damaging	1.00
R9097:Ptpru	UTSW	4	131,772,532 (GRCm38)	missense	probably damaging	1.00
R9151:Ptpru	UTSW	4	131,794,967 (GRCm38)	missense	probably benign
R9166:Ptpru	UTSW	4	131,797,869 (GRCm38)	missense	probably benign	0.00
R9174:Ptpru	UTSW	4	131,808,435 (GRCm38)	missense	probably damaging	1.00
R9242:Ptpru	UTSW	4	131,803,030 (GRCm38)	missense	probably damaging	1.00
R9698:Ptpru	UTSW	4	131,820,220 (GRCm38)	missense	probably benign	0.09
X0024:Ptpru	UTSW	4	131,771,190 (GRCm38)	missense	probably benign	0.15
Z1177:Ptpru	UTSW	4	131,808,262 (GRCm38)	missense	probably damaging	0.99
Z1177:Ptpru	UTSW	4	131,799,706 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGCTCAGAACAGGCTTACCATCTTC -3'
(R):5'- TGCTGCCTTACTCCAGAGCAAATG -3'

Sequencing Primer
(F):5'- CATCTGTCTGGAAGGTGACCTC -3'
(R):5'- ctctcttcttctcctttcccc -3'

Posted On

2013-11-18