Mutagenetix > Incidental Mutation

Incidental Mutation 'R2411:Ptpru'

249978

Institutional Source

Beutler Lab

Gene Symbol

Ptpru

Ensembl Gene

ENSMUSG00000028909

Gene Name

protein tyrosine phosphatase receptor type U

Synonyms

RPTPlambda, Ptprl

MMRRC Submission

040376-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131495768-131565599 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131498780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 1311 (F1311Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101607 (fasta)

Gene Model

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

AlphaFold

B1AUH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000030741
AA Change: F1321Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030741
Gene: ENSMUSG00000028909
AA Change: F1321Y

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: ENSMUST00000105987
AA Change: F1311Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101607
Gene: ENSMUSG00000028909
AA Change: F1311Y

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: ENSMUST00000144136

Meta Mutation Damage Score

0.5739

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,795,373 (GRCm39)		probably benign	Het
9030612E09Rik	G	T	10: 43,050,796 (GRCm39)	R30L	possibly damaging	Het
Aadacl2	A	G	3: 59,924,844 (GRCm39)	D137G	possibly damaging	Het
Acad11	T	G	9: 103,963,222 (GRCm39)		probably benign	Het
Acap1	A	T	11: 69,776,311 (GRCm39)	N229K	probably damaging	Het
Agbl1	A	G	7: 76,369,898 (GRCm39)	T666A	probably damaging	Het
Btbd16	T	C	7: 130,391,954 (GRCm39)	F160L	probably damaging	Het
Clock	A	C	5: 76,379,360 (GRCm39)	H525Q	probably benign	Het
Col6a1	G	T	10: 76,546,922 (GRCm39)	Q767K	unknown	Het
Creld1	A	G	6: 113,466,737 (GRCm39)	H240R	probably benign	Het
Dlg4	G	A	11: 69,932,755 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,187,870 (GRCm39)	*237R	probably null	Het
Filip1	T	A	9: 79,805,715 (GRCm39)	N13I	probably damaging	Het
Gm14295	G	T	2: 176,499,206 (GRCm39)	A19S	probably benign	Het
Hddc3	A	T	7: 79,993,341 (GRCm39)	Q56L	probably damaging	Het
Hes6	A	C	1: 91,340,986 (GRCm39)		probably null	Het
Hormad1	A	G	3: 95,487,326 (GRCm39)	D270G	probably benign	Het
Ifitm1	A	G	7: 140,549,711 (GRCm39)		probably null	Het
Igbp1b	A	C	6: 138,634,871 (GRCm39)	V191G	probably damaging	Het
Impg2	T	A	16: 56,072,517 (GRCm39)	N316K	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lilra6	T	C	7: 3,914,453 (GRCm39)	Y566C	probably damaging	Het
Map4k4	A	G	1: 40,046,656 (GRCm39)	D775G	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,155,662 (GRCm39)	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,391,995 (GRCm39)	P810Q	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or14c44	T	C	7: 86,062,290 (GRCm39)	V281A	possibly damaging	Het
Or1ad1	A	G	11: 50,875,758 (GRCm39)	T77A	probably damaging	Het
Or4a27	C	T	2: 88,559,741 (GRCm39)	M67I	probably benign	Het
Ppp2r3c	T	C	12: 55,345,269 (GRCm39)	K73R	probably benign	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Setd2	A	G	9: 110,379,497 (GRCm39)	E1104G	possibly damaging	Het
St14	G	A	9: 31,019,530 (GRCm39)	T97I	probably benign	Het
Stag3	A	G	5: 138,281,290 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tor1b	G	T	2: 30,845,824 (GRCm39)	S167I	probably damaging	Het
Ttn	T	A	2: 76,568,359 (GRCm39)	E27511D	probably damaging	Het
Uso1	T	A	5: 92,306,258 (GRCm39)		probably benign	Het
Vmn1r10	G	T	6: 57,091,124 (GRCm39)	V239F	probably benign	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zfp160	C	T	17: 21,246,007 (GRCm39)	R186C	possibly damaging	Het
Zfp869	A	G	8: 70,159,179 (GRCm39)	C465R	probably damaging	Het
Zfp957	T	C	14: 79,451,782 (GRCm39)	K6E	unknown	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
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'- AACTGGAAGTGCCGTACCAG -3'
(R):5'- AGAGATAGGTCTGCTGCAGG -3'

Sequencing Primer
(F):5'- CCAGCAGGTGACCCTCC -3'
(R):5'- ACTGAGCCAGTCTGGAACC -3'

Posted On

2014-11-12