Mutagenetix > Incidental Mutation

Incidental Mutation 'R9717:Ptpra'

730507

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9717 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130450278-130556124 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130542446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 562 (E562G)

Ref Sequence

ENSEMBL: ENSMUSP00000076533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028769] [ENSMUST00000077303] [ENSMUST00000230981]

AlphaFold

P18052

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

possibly damaging
Transcript: ENSMUST00000028769
AA Change: E526G

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

SMART Domains

Protein: ENSMUSP00000028769
Gene: ENSMUSG00000027303
AA Change: E526G

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

possibly damaging
Transcript: ENSMUST00000077303
AA Change: E562G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076533
Gene: ENSMUSG00000027303
AA Change: E562G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230981

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,520,781	N2552I	probably damaging	Het
Amph	G	T	13: 19,125,083	A444S	probably benign	Het
Ankrd52	A	G	10: 128,380,588	N157S	probably benign	Het
Arhgap29	T	C	3: 122,004,271	F537L	probably benign	Het
Asic1	A	C	15: 99,692,776	T136P	probably damaging	Het
Atg2b	T	C	12: 105,639,302	Y1468C	probably benign	Het
Atm	A	G	9: 53,516,517	L431P	probably damaging	Het
Btaf1	A	G	19: 36,945,246	T17A	probably benign	Het
Car10	A	G	11: 93,304,541	N58S	probably benign	Het
Cd79b	A	T	11: 106,312,019	D252E	probably damaging	Het
Cdipt	C	T	7: 126,977,030		probably benign	Het
Cebpe	T	C	14: 54,711,708	D84G	probably damaging	Het
Cenpj	T	C	14: 56,552,996	E532G	probably benign	Het
Cherp	A	G	8: 72,463,076		probably null	Het
Chuk	T	C	19: 44,082,670	D532G	possibly damaging	Het
Clec1b	C	T	6: 129,397,640	T9I	probably benign	Het
Clspn	G	T	4: 126,564,963	A280S	possibly damaging	Het
Cts3	T	G	13: 61,564,985	Y307S	probably benign	Het
Cyp2c39	T	C	19: 39,568,049	M443T	possibly damaging	Het
Dhx57	C	T	17: 80,275,018	R386H	probably damaging	Het
Dhx58	A	T	11: 100,701,307	M305K	probably benign	Het
Dlgap3	T	C	4: 127,235,494	L894P	probably damaging	Het
Dnah3	A	T	7: 119,975,076	N2164K	probably damaging	Het
Dnajb14	A	G	3: 137,902,283	N183S	probably benign	Het
Drd5	G	T	5: 38,320,747	R361L	probably damaging	Het
Duoxa1	T	C	2: 122,305,141	E159G	probably damaging	Het
Exoc1	T	A	5: 76,563,232	S659R	probably benign	Het
Fam214b	T	C	4: 43,036,050	H227R	probably damaging	Het
Fbln7	T	C	2: 128,877,394	I37T	probably benign	Het
Fcgrt	T	G	7: 45,095,429	E205A	possibly damaging	Het
Fcho2	A	T	13: 98,763,694	S304T	probably damaging	Het
Gbp9	C	A	5: 105,105,721	G43*	probably null	Het
Gm21671	T	C	5: 25,949,831	E257G	probably damaging	Het
Gucy2d	A	G	7: 98,474,661	K151R	probably benign	Het
Heatr4	T	A	12: 83,978,055	I331F	probably damaging	Het
Hmcn1	G	A	1: 150,609,627	T4408I	probably damaging	Het
Hoxc9	C	T	15: 102,982,119	T156M	probably benign	Het
Hrnr	A	T	3: 93,320,680	E35V	probably damaging	Het
Idua	C	T	5: 108,670,171	Q70*	probably null	Het
Klf5	A	T	14: 99,301,753	I201F	probably damaging	Het
Lonrf1	T	C	8: 36,234,010	K349E	probably damaging	Het
Lrp1b	A	T	2: 41,268,383	D1721E		Het
Mdh1	T	A	11: 21,571,870		probably benign	Het
Mllt11	T	C	3: 95,220,210	H83R	probably benign	Het
Mrgprb4	A	C	7: 48,198,835	I115S	possibly damaging	Het
Mrpl38	A	G	11: 116,132,470	F319S	probably damaging	Het
Naif1	A	T	2: 32,454,895	M204L	probably benign	Het
Ncan	T	A	8: 70,101,978	D1063V	probably damaging	Het
Noto	A	T	6: 85,424,345	R119W	possibly damaging	Het
Olfr1220	G	A	2: 89,097,229	L233F	probably benign	Het
Olfr147	A	T	9: 38,403,545	I224F	probably damaging	Het
Olfr573-ps1	A	T	7: 102,941,958	D206E	probably damaging	Het
Olfr816	T	A	10: 129,912,179	Y33F	probably damaging	Het
Ovch2	A	G	7: 107,794,377	W181R	probably damaging	Het
Palm	G	C	10: 79,819,283	G292R	probably damaging	Het
Pdgfrb	T	A	18: 61,072,715	L591*	probably null	Het
Pik3c2g	T	C	6: 139,896,184	S772P		Het
Prx	C	A	7: 27,517,986	D776E	probably benign	Het
Rbm4b	A	G	19: 4,757,331	Y25C	probably damaging	Het
Reln	T	C	5: 21,931,429	T2534A	probably benign	Het
Rnf123	T	C	9: 108,077,764	S14G	probably benign	Het
Rock2	A	G	12: 16,965,601	H833R	probably benign	Het
Rxfp3	A	G	15: 11,037,025	V87A	possibly damaging	Het
S100b	G	A	10: 76,257,102	G23D	probably damaging	Het
Scn9a	T	A	2: 66,526,658	M1100L	probably benign	Het
Sept11	T	A	5: 93,148,407	S55T	possibly damaging	Het
Sv2b	T	A	7: 75,119,928	Q622L	probably benign	Het
Taar7a	T	C	10: 23,992,901	D194G	probably benign	Het
Trappc3	T	C	4: 126,275,221	I168T	probably benign	Het
Trim27	T	C	13: 21,190,126		probably null	Het
Wdr49	G	A	3: 75,397,052	T109I	probably benign	Het
Wdr64	T	C	1: 175,717,288	Y96H	probably damaging	Het
Zfp219	A	T	14: 52,009,592	L26Q	probably damaging	Het
Zfp758	T	A	17: 22,374,848	V105D	possibly damaging	Het
Zfp975	C	G	7: 42,662,908	E94Q	possibly damaging	Het
Zfyve9	C	T	4: 108,682,137	A289T	probably benign	Het
Zscan5b	T	C	7: 6,231,526	S184P	possibly 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
R7072:Ptpra	UTSW	2	130553430	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
R8952:Ptpra	UTSW	2	130545049	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGACCTCTGTGATCCAC -3'
(R):5'- TGCTGAACATGAGAATCACCG -3'

Sequencing Primer
(F):5'- GATCCACATTTCAGATGCAGTACGTC -3'
(R):5'- TGAGAGGTGTAAGGAAATACTGTTTC -3'

Posted On

2022-10-06