Mutagenetix > Incidental Mutations

Incidental Mutation 'R7072:Ptpra'

548936

Institutional Source

Beutler Lab

Gene Symbol

Ptpra

Ensembl Gene

ENSMUSG00000027303

Gene Name

protein tyrosine phosphatase, receptor type, A

Synonyms

PTPalpha, RPTRalpha, Ptpa, PTP[a], RPTPalpha

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130450278-130556124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130553430 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 818 (Y818H)

Ref Sequence

ENSEMBL: ENSMUSP00000076533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303]

PDB Structure

Crystal structure of the D2 domain of RPTPa [X-RAY DIFFRACTION]
RECEPTOR PROTEIN TYROSINE PHOSPHATASE ALPHA, DOMAIN 1 FROM MOUSE [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028769
AA Change: Y782H

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

SMART Domains

Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: Y782H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
PTPc	231	494	6.01e-130	SMART
PTPc	523	784	3.56e-132	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000077303
AA Change: Y818H

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

SMART Domains

Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: Y818H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	49	61	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
PTPc	231	530	2.03e-118	SMART
PTPc	559	820	3.56e-132	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

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 contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. This PTP has been shown to dephosphorylate and activate Src family tyrosine kinases, and is implicated in the regulation of integrin signaling, cell adhesion and proliferation. Three alternatively spliced variants of this gene, which encode two distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit deficits in Morris water maze learning, reduced locomotor activity, and decreased anxiety. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,173,943	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,726,369	F90L	probably benign	Het
Ahnak2	T	A	12: 112,788,166	Q23L		Het
Anpep	A	T	7: 79,835,379	L620I	possibly damaging	Het
Bpi	T	C	2: 158,272,078	S299P	probably damaging	Het
Bpifa2	A	G	2: 154,011,373	D132G	probably damaging	Het
Brd7	T	A	8: 88,346,987	E258D	probably benign	Het
Btc	T	C	5: 91,402,937		probably benign	Het
Cacna1c	A	G	6: 118,596,106	V2039A		Het
Calm4	T	A	13: 3,838,275	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,760,359	V80A	unknown	Het
Ccdc33	A	G	9: 58,111,984	*279R	probably null	Het
Cercam	T	A	2: 29,881,924	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,440,857	D138G	probably benign	Het
Cox4i2	T	C	2: 152,760,653	F89S	probably damaging	Het
Crb1	G	A	1: 139,237,275	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,438,767		probably null	Het
Ctsj	C	A	13: 61,003,083	E187*	probably null	Het
D730001G18Rik	C	T	15: 74,772,270	V66M		Het
Dagla	A	T	19: 10,256,295		probably null	Het
Dnah7a	G	A	1: 53,419,753	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,615,615	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,129,728	L236Q	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Frmd5	A	T	2: 121,557,870	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,270,927	T662A	probably benign	Het
Gins1	C	T	2: 150,909,751		probably null	Het
Gli3	T	A	13: 15,725,695	N1222K	possibly damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm4302	G	T	10: 100,341,659	Q268H	unknown	Het
Grin2d	A	T	7: 45,857,498	W518R	probably damaging	Het
Grm5	A	T	7: 88,074,304	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,546,365	N193K	probably benign	Het
Igdcc4	T	G	9: 65,130,731	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,341,412	F13I	probably benign	Het
Kctd11	T	A	11: 69,879,795	N139I	probably benign	Het
Lmo7	G	A	14: 101,898,700		probably null	Het
Lrrk2	A	T	15: 91,801,920	M2155L	probably benign	Het
Mettl24	A	C	10: 40,683,513	H53P	probably benign	Het
Mier2	A	G	10: 79,540,299	M264T	unknown	Het
Mplkip	T	C	13: 17,695,537	I18T	unknown	Het
Mtmr2	T	C	9: 13,788,620	V101A	probably benign	Het
Nbeal2	G	T	9: 110,626,051	T2593K	probably benign	Het
Neu3	A	T	7: 99,814,197	C106*	probably null	Het
Nutm1	T	C	2: 112,251,847	T295A	probably benign	Het
Olfr753-ps1	A	G	17: 37,170,378	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,717,276	V779L	probably benign	Het
Pde10a	A	G	17: 8,943,026	E231G	probably benign	Het
Plcg2	T	A	8: 117,589,835		probably null	Het
Pofut2	T	C	10: 77,259,429	L36P	probably benign	Het
Pou6f2	T	C	13: 18,125,169	N635S		Het
Pramef17	A	C	4: 143,994,128	I81R	probably damaging	Het
Rad18	T	C	6: 112,681,440	E168G	probably benign	Het
Rev1	C	A	1: 38,067,545	E634*	probably null	Het
Sec24d	A	G	3: 123,330,351	D403G	probably damaging	Het
Sema5a	C	A	15: 32,574,959	H404Q	possibly damaging	Het
Shank1	A	G	7: 44,344,946	S844G	unknown	Het
Slc32a1	T	A	2: 158,611,496	Y85*	probably null	Het
Slc39a4	T	C	15: 76,613,258	T485A	probably damaging	Het
Sp5	A	C	2: 70,476,730	Q253P	probably benign	Het
Sspo	A	T	6: 48,454,979	D709V	probably damaging	Het
Sucnr1	A	G	3: 60,086,183	Y44C	probably damaging	Het
Taar8b	A	G	10: 24,091,978	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,264,865	D922G	probably damaging	Het
Tbx6	A	T	7: 126,784,740	D322V	probably benign	Het
Tex15	T	A	8: 33,575,431	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,541,501	P880S	probably benign	Het
Uck1	C	T	2: 32,258,166	R182Q	probably damaging	Het
Utrn	T	A	10: 12,465,213	H2840L	probably damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Wnk1	A	T	6: 119,937,861	I1909N	unknown	Het
Zfp352	C	T	4: 90,224,424	T267I	probably benign	Het
Zfp773	A	T	7: 7,132,875	C241S	probably benign	Het
Zfp934	T	C	13: 62,520,525	D8G	probably damaging	Het

Other mutations in Ptpra

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01411:Ptpra	APN	2	130544439	missense	probably damaging	1.00
IGL01734:Ptpra	APN	2	130544077	missense	probably damaging	1.00
IGL02218:Ptpra	APN	2	130552335	splice site	probably benign
IGL02385:Ptpra	APN	2	130540473	unclassified	probably benign
IGL02480:Ptpra	APN	2	130504261	missense	probably benign	0.09
IGL03181:Ptpra	APN	2	130517787	missense	probably damaging	0.99
R0374:Ptpra	UTSW	2	130537621	missense	probably damaging	1.00
R0483:Ptpra	UTSW	2	130539685	missense	probably damaging	1.00
R0848:Ptpra	UTSW	2	130518991	missense	probably damaging	1.00
R1550:Ptpra	UTSW	2	130541393	missense	possibly damaging	0.86
R1596:Ptpra	UTSW	2	130544952	missense	probably damaging	1.00
R1689:Ptpra	UTSW	2	130503492	missense	probably benign	0.01
R1760:Ptpra	UTSW	2	130549827	missense	probably damaging	1.00
R1943:Ptpra	UTSW	2	130544104	missense	probably damaging	1.00
R2114:Ptpra	UTSW	2	130539735	missense	probably damaging	1.00
R2115:Ptpra	UTSW	2	130539735	missense	probably damaging	1.00
R2117:Ptpra	UTSW	2	130539735	missense	probably damaging	1.00
R2187:Ptpra	UTSW	2	130504299	missense	probably benign
R2848:Ptpra	UTSW	2	130544999	missense	probably benign	0.06
R2849:Ptpra	UTSW	2	130544999	missense	probably benign	0.06
R4644:Ptpra	UTSW	2	130544158	missense	probably damaging	1.00
R4779:Ptpra	UTSW	2	130537617	missense	probably damaging	1.00
R4849:Ptpra	UTSW	2	130532161	missense	probably damaging	1.00
R4899:Ptpra	UTSW	2	130544436	missense	probably damaging	1.00
R5657:Ptpra	UTSW	2	130504284	missense	probably benign	0.06
R6018:Ptpra	UTSW	2	130503502	missense	probably benign
R6234:Ptpra	UTSW	2	130537588	missense	probably damaging	1.00
R6350:Ptpra	UTSW	2	130540592	missense	probably damaging	1.00
R6856:Ptpra	UTSW	2	130519381	missense	probably damaging	1.00
R7146:Ptpra	UTSW	2	130537651	critical splice donor site	probably null
R7220:Ptpra	UTSW	2	130544497	missense	probably damaging	1.00
R7346:Ptpra	UTSW	2	130553400	missense	probably damaging	1.00
R7819:Ptpra	UTSW	2	130504206	missense	probably benign
R8044:Ptpra	UTSW	2	130544961	missense	possibly damaging	0.93
R8231:Ptpra	UTSW	2	130537603	missense	probably damaging	1.00
R8404:Ptpra	UTSW	2	130549759	missense	probably damaging	1.00
R8422:Ptpra	UTSW	2	130532171	missense	possibly damaging	0.86
R8502:Ptpra	UTSW	2	130549759	missense	probably damaging	1.00
R8683:Ptpra	UTSW	2	130552267	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- AGCCCTGCCTGTAGAAGATC -3'
(R):5'- CCTAACAGGTAATAGAAGCCTATGTG -3'

Sequencing Primer
(F):5'- TTATTCCCAGCACTCAGGAGG -3'
(R):5'- GGTAATAGAAGCCTATGTGCCATTTC -3'

Posted On

2019-05-15