Mutagenetix > Incidental Mutation

Incidental Mutation 'R0834:Ptprt'

77706

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase, receptor type, T

Synonyms

RPTPrho

MMRRC Submission

039013-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R0834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161521990-162661147 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 161812139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105071 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109441] [ENSMUST00000109442] [ENSMUST00000109443] [ENSMUST00000109445]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000109441

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MAM	31	195	2.21e-71	SMART
IG	202	290	3.94e-2	SMART
FN3	292	375	3.35e-3	SMART
FN3	388	477	4.06e-2	SMART
FN3	489	579	1.2e-4	SMART
transmembrane domain	753	772	N/A	INTRINSIC
PTPc	882	1159	3.64e-129	SMART
PTPc	1188	1453	4.24e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109442

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MAM	31	195	2.21e-71	SMART
IG	202	290	3.94e-2	SMART
FN3	292	375	3.35e-3	SMART
FN3	388	477	4.06e-2	SMART
FN3	489	579	1.2e-4	SMART
low complexity region	738	749	N/A	INTRINSIC
transmembrane domain	772	791	N/A	INTRINSIC
PTPc	901	1158	5.56e-134	SMART
PTPc	1187	1452	4.24e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109443

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MAM	31	195	2.21e-71	SMART
IG	202	290	3.94e-2	SMART
FN3	292	375	3.35e-3	SMART
FN3	388	477	4.06e-2	SMART
FN3	489	579	1.2e-4	SMART
low complexity region	778	792	N/A	INTRINSIC
PTPc	892	1149	5.56e-134	SMART
PTPc	1178	1443	4.24e-98	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109445

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
MAM	31	195	2.21e-71	SMART
IG	202	290	3.94e-2	SMART
FN3	292	375	3.35e-3	SMART
FN3	388	477	4.06e-2	SMART
FN3	489	579	1.2e-4	SMART
transmembrane domain	753	772	N/A	INTRINSIC
PTPc	882	1139	5.56e-134	SMART
PTPc	1168	1433	4.24e-98	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.7%

Validation Efficiency

100% (86/86)

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. The protein domain structure and the expression pattern of the mouse counterpart of this PTP suggest its roles in both signal transduction and cellular adhesion in the central nervous system. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are highly susceptible to carcinogen azoxymethane-induced colon tumors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900011O08Rik	T	C	16: 14,093,931	L47P	probably damaging	Het
Add2	A	T	6: 86,086,917	E66V	probably damaging	Het
Aldh1a3	T	C	7: 66,412,910	I156V	probably benign	Het
Ang4	T	A	14: 51,764,268	K74N	probably benign	Het
Arcn1	A	T	9: 44,758,875		probably benign	Het
Arhgef33	T	A	17: 80,347,597		probably benign	Het
Arntl2	A	G	6: 146,822,687	H359R	probably damaging	Het
Atn1	A	G	6: 124,743,225		probably benign	Het
Brip1	T	C	11: 86,192,827	T123A	probably benign	Het
Camkv	A	G	9: 107,945,846	Y95C	probably damaging	Het
Cdk12	T	A	11: 98,204,385	S340T	probably benign	Het
Ckap2l	G	A	2: 129,296,304		probably benign	Het
Clmn	A	T	12: 104,771,826	L1042Q	probably damaging	Het
Clmn	G	T	12: 104,771,827	L1042M	probably damaging	Het
Cluh	T	C	11: 74,663,805	V737A	probably benign	Het
Cpne8	A	G	15: 90,540,259	V309A	probably benign	Het
Cpxm2	T	A	7: 132,154,613		probably benign	Het
Csmd3	A	T	15: 47,883,677		probably benign	Het
Ctr9	T	A	7: 111,050,952	S818T	probably benign	Het
Cyp26a1	C	T	19: 37,699,957	A309V	probably damaging	Het
D10Jhu81e	T	C	10: 78,162,705	D229G	probably damaging	Het
Dbndd2	C	T	2: 164,490,202	T115I	possibly damaging	Het
Ddx58	T	A	4: 40,239,596	E34V	possibly damaging	Het
Dhcr7	A	G	7: 143,841,227	N157S	probably benign	Het
Dlx2	C	A	2: 71,545,515	V155F	probably damaging	Het
Duox1	A	T	2: 122,346,501	I1470F	probably damaging	Het
Esrrb	A	T	12: 86,470,297	I68F	probably benign	Het
Fhod3	T	A	18: 25,115,805	L1347*	probably null	Het
Fip1l1	T	C	5: 74,595,060		probably benign	Het
Frem3	A	G	8: 80,687,008	Y1966C	probably damaging	Het
Ggt5	C	T	10: 75,604,770	R242C	possibly damaging	Het
Gm14496	G	A	2: 181,995,687	V185I	probably benign	Het
Gnptab	T	C	10: 88,429,952	V409A	probably damaging	Het
Gramd1a	A	G	7: 31,138,164	F390S	possibly damaging	Het
Helz2	A	G	2: 181,230,777	S2477P	probably damaging	Het
Hsd17b3	T	C	13: 64,089,122	K3E	probably benign	Het
Ift172	T	C	5: 31,257,371	H1395R	probably benign	Het
Jam2	T	A	16: 84,812,967	C180S	probably damaging	Het
Kalrn	A	C	16: 34,049,919	S160A	possibly damaging	Het
Kcnk3	T	C	5: 30,622,635	I343T	probably damaging	Het
Kif13a	T	C	13: 46,814,236	E334G	probably damaging	Het
Klhl41	A	G	2: 69,678,147	K482E	possibly damaging	Het
Lig3	A	G	11: 82,798,287	E794G	probably damaging	Het
Myh13	T	C	11: 67,349,610	M780T	possibly damaging	Het
Ndst2	A	G	14: 20,729,693	Y160H	probably damaging	Het
Ndufb10	T	C	17: 24,722,674	M90V	probably damaging	Het
Obscn	T	C	11: 59,133,278	K522R	probably benign	Het
Olfml2b	T	C	1: 170,647,844	S113P	probably benign	Het
Olfr1251	A	G	2: 89,667,079	I269T	probably benign	Het
Olfr1424	T	A	19: 12,059,615	M46L	probably benign	Het
Olfr298	T	A	7: 86,489,490	E20D	probably benign	Het
Olfr420	T	A	1: 174,159,364	M197K	possibly damaging	Het
Olfr620	T	C	7: 103,612,237	T39A	probably benign	Het
Parg	T	C	14: 32,214,554		probably benign	Het
Pde7a	C	T	3: 19,230,318	C367Y	probably damaging	Het
Pigr	T	A	1: 130,844,544	C166*	probably null	Het
Pip4k2c	A	T	10: 127,200,835		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Prkd2	A	T	7: 16,865,677		probably benign	Het
Rapgef5	C	T	12: 117,647,121		probably benign	Het
Retreg1	T	C	15: 25,971,670	L356P	probably benign	Het
Rnf43	A	G	11: 87,731,251	T393A	probably benign	Het
Samd3	T	C	10: 26,271,827	S467P	probably benign	Het
Scarf1	C	A	11: 75,514,403	C89*	probably null	Het
Sdk1	T	C	5: 141,242,024	L59S	probably benign	Het
Sgca	C	T	11: 94,970,686	W244*	probably null	Het
Sh3d21	T	C	4: 126,151,272	K538R	probably benign	Het
Smyd4	T	A	11: 75,391,132	L477Q	possibly damaging	Het
Sra1	A	G	18: 36,668,776	M87T	probably benign	Het
Ssh2	T	C	11: 77,437,633	Y336H	possibly damaging	Het
Steap1	T	C	5: 5,740,357	Y197C	probably damaging	Het
Strn3	A	G	12: 51,627,096		probably benign	Het
Tgm3	A	G	2: 130,026,757	T205A	probably benign	Het
Tll2	G	A	19: 41,113,073	T374I	probably damaging	Het
Tmem63b	C	A	17: 45,660,944	D782Y	possibly damaging	Het
Trim10	G	A	17: 36,872,391	S193N	probably benign	Het
Ttf1	A	T	2: 29,073,950	K613*	probably null	Het
Tube1	T	A	10: 39,134,172		probably null	Het
Uimc1	T	A	13: 55,076,409		probably null	Het
Wwp2	G	T	8: 107,556,796		probably benign	Het
Zfp101	C	T	17: 33,382,444	V113I	probably benign	Het
Zfp292	T	C	4: 34,809,114	D1310G	probably benign	Het
Zfp575	A	T	7: 24,585,820	L132H	probably damaging	Het
Zmym2	T	C	14: 56,956,963	F1226S	probably damaging	Het
Zswim6	A	C	13: 107,726,454		noncoding transcript	Het

Other mutations in Ptprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ptprt	APN	2	161810624	missense	probably benign	0.00
IGL00565:Ptprt	APN	2	161560191	missense	probably damaging	1.00
IGL00925:Ptprt	APN	2	161656163	missense	possibly damaging	0.52
IGL01344:Ptprt	APN	2	161551817	missense	probably damaging	1.00
IGL01432:Ptprt	APN	2	162268079	splice site	probably benign
IGL02008:Ptprt	APN	2	161927673	missense	probably benign	0.02
IGL02040:Ptprt	APN	2	162238072	missense	probably damaging	1.00
IGL02172:Ptprt	APN	2	161555502	missense	probably damaging	1.00
IGL02231:Ptprt	APN	2	162238060	missense	probably damaging	1.00
IGL02231:Ptprt	APN	2	162278046	critical splice donor site	probably null
IGL02232:Ptprt	APN	2	161530517	missense	probably damaging	0.96
IGL02277:Ptprt	APN	2	161547381	missense	probably damaging	1.00
IGL02447:Ptprt	APN	2	162278107	missense	probably benign	0.01
IGL02601:Ptprt	APN	2	161766307	missense	probably benign	0.10
IGL02623:Ptprt	APN	2	161607452	splice site	probably benign
IGL03379:Ptprt	APN	2	161555459	nonsense	probably null
Poverina	UTSW	2	161901497	missense	possibly damaging	0.70
IGL03055:Ptprt	UTSW	2	161533613	missense	probably damaging	0.96
R0064:Ptprt	UTSW	2	161927791	splice site	probably benign
R0129:Ptprt	UTSW	2	162278070	missense	probably benign	0.35
R0131:Ptprt	UTSW	2	162278110	missense	probably benign	0.00
R0131:Ptprt	UTSW	2	162278110	missense	probably benign	0.00
R0132:Ptprt	UTSW	2	162278110	missense	probably benign	0.00
R0316:Ptprt	UTSW	2	161607319	missense	probably damaging	1.00
R0454:Ptprt	UTSW	2	161553822	missense	probably damaging	0.96
R0488:Ptprt	UTSW	2	161553825	missense	probably damaging	0.99
R0573:Ptprt	UTSW	2	161551748	missense	probably damaging	1.00
R0614:Ptprt	UTSW	2	161812120	missense	possibly damaging	0.59
R1023:Ptprt	UTSW	2	161558943	missense	probably damaging	1.00
R1184:Ptprt	UTSW	2	161927772	missense	possibly damaging	0.82
R1253:Ptprt	UTSW	2	162278226	missense	probably damaging	1.00
R1476:Ptprt	UTSW	2	161927484	missense	probably damaging	1.00
R1515:Ptprt	UTSW	2	162238034	missense	probably damaging	1.00
R1595:Ptprt	UTSW	2	161810549	critical splice donor site	probably null
R1939:Ptprt	UTSW	2	161927640	missense	probably benign	0.45
R1987:Ptprt	UTSW	2	161558898	missense	probably damaging	1.00
R1987:Ptprt	UTSW	2	161766321	missense	possibly damaging	0.48
R2049:Ptprt	UTSW	2	161534545	missense	probably damaging	1.00
R2140:Ptprt	UTSW	2	161811988	missense	probably damaging	1.00
R2421:Ptprt	UTSW	2	162278040	splice site	probably benign
R3432:Ptprt	UTSW	2	161927529	missense	probably damaging	1.00
R3619:Ptprt	UTSW	2	161566157	missense	probably damaging	1.00
R3757:Ptprt	UTSW	2	161812030	missense	probably damaging	1.00
R3758:Ptprt	UTSW	2	161812030	missense	probably damaging	1.00
R3834:Ptprt	UTSW	2	161547387	missense	probably damaging	1.00
R3835:Ptprt	UTSW	2	161547387	missense	probably damaging	1.00
R3915:Ptprt	UTSW	2	161555555	splice site	probably benign
R4003:Ptprt	UTSW	2	161566117	splice site	probably benign
R4387:Ptprt	UTSW	2	161927650	missense	probably damaging	1.00
R4519:Ptprt	UTSW	2	161564689	missense	probably damaging	1.00
R4618:Ptprt	UTSW	2	161553845	missense	probably damaging	1.00
R4677:Ptprt	UTSW	2	161901446	critical splice donor site	probably null
R4866:Ptprt	UTSW	2	161560239	missense	probably damaging	1.00
R5088:Ptprt	UTSW	2	162238175	missense	probably benign	0.01
R5173:Ptprt	UTSW	2	161927756	missense	probably benign	0.01
R5215:Ptprt	UTSW	2	162278164	missense	probably damaging	1.00
R5383:Ptprt	UTSW	2	161698049	missense	probably damaging	1.00
R5398:Ptprt	UTSW	2	161927592	missense	probably damaging	1.00
R5518:Ptprt	UTSW	2	162278223	missense	probably damaging	0.99
R5711:Ptprt	UTSW	2	161810604	missense	probably damaging	0.98
R5735:Ptprt	UTSW	2	161534564	missense	probably damaging	0.98
R5834:Ptprt	UTSW	2	161560269	missense	probably damaging	1.00
R5872:Ptprt	UTSW	2	162135218	missense	probably damaging	1.00
R5926:Ptprt	UTSW	2	161564686	missense	probably benign	0.00
R6210:Ptprt	UTSW	2	162268029	missense	probably damaging	1.00
R6285:Ptprt	UTSW	2	161901497	missense	possibly damaging	0.70
R6298:Ptprt	UTSW	2	161553859	missense	probably damaging	1.00
R6406:Ptprt	UTSW	2	161553783	missense	probably damaging	0.98
R6499:Ptprt	UTSW	2	161534587	missense	probably benign	0.32
R6613:Ptprt	UTSW	2	161530447	missense	probably damaging	1.00
R6622:Ptprt	UTSW	2	161553840	missense	probably damaging	1.00
R7218:Ptprt	UTSW	2	161547364	missense	probably damaging	1.00
R7247:Ptprt	UTSW	2	161533523	missense	probably benign	0.15
R7576:Ptprt	UTSW	2	161607305	missense	possibly damaging	0.88
R7733:Ptprt	UTSW	2	161575787	missense	probably damaging	1.00
R7735:Ptprt	UTSW	2	161575741	missense	probably damaging	1.00
R7813:Ptprt	UTSW	2	161530493	missense	probably damaging	1.00
R8031:Ptprt	UTSW	2	162135457	missense	probably damaging	1.00
R8074:Ptprt	UTSW	2	161927661	missense	possibly damaging	0.77
R8151:Ptprt	UTSW	2	162278085	missense	probably damaging	1.00
R8236:Ptprt	UTSW	2	161687068	critical splice donor site	probably null
R8308:Ptprt	UTSW	2	161927646	missense	probably benign	0.00
R8348:Ptprt	UTSW	2	161558886	missense	probably damaging	1.00
R8362:Ptprt	UTSW	2	161551747	missense	probably damaging	1.00
R8365:Ptprt	UTSW	2	161901531	missense	probably benign	0.05
R8448:Ptprt	UTSW	2	161558886	missense	probably damaging	1.00
R8512:Ptprt	UTSW	2	161558863	missense	probably benign	0.00
R8715:Ptprt	UTSW	2	161530543	missense	probably damaging	1.00
R9004:Ptprt	UTSW	2	161766394	missense	probably benign	0.04
R9046:Ptprt	UTSW	2	161530441	missense	possibly damaging	0.58
R9222:Ptprt	UTSW	2	161560186	missense	probably damaging	1.00
R9297:Ptprt	UTSW	2	161575778	missense	probably benign
R9318:Ptprt	UTSW	2	161575778	missense	probably benign
R9476:Ptprt	UTSW	2	161555461	missense	probably damaging	1.00
R9510:Ptprt	UTSW	2	161555461	missense	probably damaging	1.00
R9571:Ptprt	UTSW	2	161553812	missense	probably benign	0.10
X0064:Ptprt	UTSW	2	161927483	missense	probably damaging	1.00
Z1088:Ptprt	UTSW	2	162238121	missense	possibly damaging	0.86
Z1177:Ptprt	UTSW	2	161732887	missense	probably damaging	1.00
Z1177:Ptprt	UTSW	2	162362948	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CTTGGTGGCAATCCGAGTAGTGAC -3'
(R):5'- CTGATTAAAGCTTCCCACCTCCAGC -3'

Sequencing Primer
(F):5'- TGACTGGGGGTCCAAAGC -3'
(R):5'- CCTCTCTGTAAACTCTAGCTTAAGG -3'

Posted On

2013-10-16