Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02447:Ptprt'

294045

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase receptor type T

Synonyms

RPTPrho

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02447

Quality Score

Status

Chromosome

Chromosomal Location

161363910-162503067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162120027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 147 (T147A)

Ref Sequence

ENSEMBL: ENSMUSP00000105068 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109441
AA Change: T147A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: T147A

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 benign
Transcript: ENSMUST00000109442
AA Change: T147A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: T147A

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 benign
Transcript: ENSMUST00000109443
AA Change: T147A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: T147A

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 benign
Transcript: ENSMUST00000109445
AA Change: T147A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: T147A

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

Coding Region Coverage

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 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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	A	4: 144,401,269 (GRCm39)	I72F	probably benign	Het
Abhd18	T	A	3: 40,888,208 (GRCm39)	F351I	probably benign	Het
Agfg1	T	A	1: 82,859,944 (GRCm39)		probably benign	Het
Antxr2	C	T	5: 98,178,267 (GRCm39)	V48I	possibly damaging	Het
Bcl9l	T	C	9: 44,418,631 (GRCm39)	M823T	probably benign	Het
Card11	G	A	5: 140,892,679 (GRCm39)	H129Y	possibly damaging	Het
Ccr1	A	T	9: 123,763,753 (GRCm39)	V259E	probably benign	Het
Cdk13	G	T	13: 17,947,001 (GRCm39)	P586T	probably benign	Het
Cep295	C	T	9: 15,243,807 (GRCm39)	V1502I	probably damaging	Het
Csnk1g3	T	C	18: 54,028,942 (GRCm39)	S32P	probably benign	Het
Dpysl4	G	A	7: 138,678,516 (GRCm39)	R492Q	probably damaging	Het
Duox2	A	G	2: 122,127,949 (GRCm39)	L78P	probably damaging	Het
Gm7361	T	C	5: 26,462,853 (GRCm39)	S32P	probably benign	Het
Grip1	T	A	10: 119,855,976 (GRCm39)	V234E	probably damaging	Het
Herc1	A	T	9: 66,404,610 (GRCm39)	I4477L	possibly damaging	Het
Il18r1	G	A	1: 40,537,497 (GRCm39)		probably null	Het
Itpkb	A	G	1: 180,248,919 (GRCm39)		probably benign	Het
Jag2	T	C	12: 112,876,232 (GRCm39)	Y799C	probably damaging	Het
Jak2	A	G	19: 29,277,014 (GRCm39)	K857R	probably damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Kcnc2	T	G	10: 112,291,851 (GRCm39)	D346E	probably damaging	Het
Kcnh1	T	A	1: 191,907,224 (GRCm39)	M92K	possibly damaging	Het
Kcnk1	A	G	8: 126,751,819 (GRCm39)	I142V	probably damaging	Het
Lsm11	T	C	11: 45,828,191 (GRCm39)	N196D	probably damaging	Het
Mpeg1	G	T	19: 12,440,156 (GRCm39)	C538F	probably damaging	Het
Nrap	G	A	19: 56,333,951 (GRCm39)	Q969*	probably null	Het
Nt5el	A	T	13: 105,236,967 (GRCm39)	S73C	probably damaging	Het
Nup205	T	C	6: 35,204,511 (GRCm39)		probably null	Het
Pdcd5	A	G	7: 35,342,110 (GRCm39)	V166A	possibly damaging	Het
Plcb2	A	T	2: 118,543,636 (GRCm39)	I745N	probably damaging	Het
Rbp3	A	T	14: 33,676,460 (GRCm39)	D136V	probably damaging	Het
Ripor3	G	T	2: 167,834,750 (GRCm39)	T247N	probably damaging	Het
Sgcd	A	C	11: 46,870,082 (GRCm39)		probably benign	Het
Slc26a6	T	C	9: 108,734,251 (GRCm39)	Y211H	probably benign	Het
Slc37a3	T	A	6: 39,314,129 (GRCm39)	E494D	probably benign	Het
Smc5	T	C	19: 23,234,856 (GRCm39)	E326G	probably benign	Het
Tctn2	T	C	5: 124,753,316 (GRCm39)		noncoding transcript	Het
Tk2	T	A	8: 104,967,770 (GRCm39)	N93I	probably damaging	Het
Tmed6	A	G	8: 107,792,240 (GRCm39)	F2L	possibly damaging	Het
Tox3	A	G	8: 90,984,781 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 127,941,401 (GRCm39)	Y237C	probably benign	Het
Ubqlnl	A	G	7: 103,797,856 (GRCm39)	L547P	probably damaging	Het
Uggt1	T	C	1: 36,189,223 (GRCm39)	D1421G	probably damaging	Het
Unc80	T	A	1: 66,542,703 (GRCm39)	I319K	possibly damaging	Het
Vac14	A	G	8: 111,380,260 (GRCm39)	D441G	probably benign	Het
Vamp8	C	T	6: 72,365,316 (GRCm39)	V5M	probably damaging	Het
Yeats2	T	A	16: 20,012,429 (GRCm39)	H560Q	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zfp773	G	T	7: 7,139,655 (GRCm39)		probably benign	Het

Other mutations in Ptprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ptprt	APN	2	161,652,544 (GRCm39)	missense	probably benign	0.00
IGL00565:Ptprt	APN	2	161,402,111 (GRCm39)	missense	probably damaging	1.00
IGL00925:Ptprt	APN	2	161,498,083 (GRCm39)	missense	possibly damaging	0.52
IGL01344:Ptprt	APN	2	161,393,737 (GRCm39)	missense	probably damaging	1.00
IGL01432:Ptprt	APN	2	162,109,999 (GRCm39)	splice site	probably benign
IGL02008:Ptprt	APN	2	161,769,593 (GRCm39)	missense	probably benign	0.02
IGL02040:Ptprt	APN	2	162,079,992 (GRCm39)	missense	probably damaging	1.00
IGL02172:Ptprt	APN	2	161,397,422 (GRCm39)	missense	probably damaging	1.00
IGL02231:Ptprt	APN	2	162,119,966 (GRCm39)	critical splice donor site	probably null
IGL02231:Ptprt	APN	2	162,079,980 (GRCm39)	missense	probably damaging	1.00
IGL02232:Ptprt	APN	2	161,372,437 (GRCm39)	missense	probably damaging	0.96
IGL02277:Ptprt	APN	2	161,389,301 (GRCm39)	missense	probably damaging	1.00
IGL02601:Ptprt	APN	2	161,608,227 (GRCm39)	missense	probably benign	0.10
IGL02623:Ptprt	APN	2	161,449,372 (GRCm39)	splice site	probably benign
IGL03379:Ptprt	APN	2	161,397,379 (GRCm39)	nonsense	probably null
Poverina	UTSW	2	161,743,417 (GRCm39)	missense	possibly damaging	0.70
IGL03055:Ptprt	UTSW	2	161,375,533 (GRCm39)	missense	probably damaging	0.96
R0064:Ptprt	UTSW	2	161,769,711 (GRCm39)	splice site	probably benign
R0129:Ptprt	UTSW	2	162,119,990 (GRCm39)	missense	probably benign	0.35
R0131:Ptprt	UTSW	2	162,120,030 (GRCm39)	missense	probably benign	0.00
R0131:Ptprt	UTSW	2	162,120,030 (GRCm39)	missense	probably benign	0.00
R0132:Ptprt	UTSW	2	162,120,030 (GRCm39)	missense	probably benign	0.00
R0316:Ptprt	UTSW	2	161,449,239 (GRCm39)	missense	probably damaging	1.00
R0454:Ptprt	UTSW	2	161,395,742 (GRCm39)	missense	probably damaging	0.96
R0488:Ptprt	UTSW	2	161,395,745 (GRCm39)	missense	probably damaging	0.99
R0573:Ptprt	UTSW	2	161,393,668 (GRCm39)	missense	probably damaging	1.00
R0614:Ptprt	UTSW	2	161,654,040 (GRCm39)	missense	possibly damaging	0.59
R0834:Ptprt	UTSW	2	161,654,059 (GRCm39)	splice site	probably null
R1023:Ptprt	UTSW	2	161,400,863 (GRCm39)	missense	probably damaging	1.00
R1184:Ptprt	UTSW	2	161,769,692 (GRCm39)	missense	possibly damaging	0.82
R1253:Ptprt	UTSW	2	162,120,146 (GRCm39)	missense	probably damaging	1.00
R1476:Ptprt	UTSW	2	161,769,404 (GRCm39)	missense	probably damaging	1.00
R1515:Ptprt	UTSW	2	162,079,954 (GRCm39)	missense	probably damaging	1.00
R1595:Ptprt	UTSW	2	161,652,469 (GRCm39)	critical splice donor site	probably null
R1939:Ptprt	UTSW	2	161,769,560 (GRCm39)	missense	probably benign	0.45
R1987:Ptprt	UTSW	2	161,608,241 (GRCm39)	missense	possibly damaging	0.48
R1987:Ptprt	UTSW	2	161,400,818 (GRCm39)	missense	probably damaging	1.00
R2049:Ptprt	UTSW	2	161,376,465 (GRCm39)	missense	probably damaging	1.00
R2140:Ptprt	UTSW	2	161,653,908 (GRCm39)	missense	probably damaging	1.00
R2421:Ptprt	UTSW	2	162,119,960 (GRCm39)	splice site	probably benign
R3432:Ptprt	UTSW	2	161,769,449 (GRCm39)	missense	probably damaging	1.00
R3619:Ptprt	UTSW	2	161,408,077 (GRCm39)	missense	probably damaging	1.00
R3757:Ptprt	UTSW	2	161,653,950 (GRCm39)	missense	probably damaging	1.00
R3758:Ptprt	UTSW	2	161,653,950 (GRCm39)	missense	probably damaging	1.00
R3834:Ptprt	UTSW	2	161,389,307 (GRCm39)	missense	probably damaging	1.00
R3835:Ptprt	UTSW	2	161,389,307 (GRCm39)	missense	probably damaging	1.00
R3915:Ptprt	UTSW	2	161,397,475 (GRCm39)	splice site	probably benign
R4003:Ptprt	UTSW	2	161,408,037 (GRCm39)	splice site	probably benign
R4387:Ptprt	UTSW	2	161,769,570 (GRCm39)	missense	probably damaging	1.00
R4519:Ptprt	UTSW	2	161,406,609 (GRCm39)	missense	probably damaging	1.00
R4618:Ptprt	UTSW	2	161,395,765 (GRCm39)	missense	probably damaging	1.00
R4677:Ptprt	UTSW	2	161,743,366 (GRCm39)	critical splice donor site	probably null
R4866:Ptprt	UTSW	2	161,402,159 (GRCm39)	missense	probably damaging	1.00
R5088:Ptprt	UTSW	2	162,080,095 (GRCm39)	missense	probably benign	0.01
R5173:Ptprt	UTSW	2	161,769,676 (GRCm39)	missense	probably benign	0.01
R5215:Ptprt	UTSW	2	162,120,084 (GRCm39)	missense	probably damaging	1.00
R5383:Ptprt	UTSW	2	161,539,969 (GRCm39)	missense	probably damaging	1.00
R5398:Ptprt	UTSW	2	161,769,512 (GRCm39)	missense	probably damaging	1.00
R5518:Ptprt	UTSW	2	162,120,143 (GRCm39)	missense	probably damaging	0.99
R5711:Ptprt	UTSW	2	161,652,524 (GRCm39)	missense	probably damaging	0.98
R5735:Ptprt	UTSW	2	161,376,484 (GRCm39)	missense	probably damaging	0.98
R5834:Ptprt	UTSW	2	161,402,189 (GRCm39)	missense	probably damaging	1.00
R5872:Ptprt	UTSW	2	161,977,138 (GRCm39)	missense	probably damaging	1.00
R5926:Ptprt	UTSW	2	161,406,606 (GRCm39)	missense	probably benign	0.00
R6210:Ptprt	UTSW	2	162,109,949 (GRCm39)	missense	probably damaging	1.00
R6285:Ptprt	UTSW	2	161,743,417 (GRCm39)	missense	possibly damaging	0.70
R6298:Ptprt	UTSW	2	161,395,779 (GRCm39)	missense	probably damaging	1.00
R6406:Ptprt	UTSW	2	161,395,703 (GRCm39)	missense	probably damaging	0.98
R6499:Ptprt	UTSW	2	161,376,507 (GRCm39)	missense	probably benign	0.32
R6613:Ptprt	UTSW	2	161,372,367 (GRCm39)	missense	probably damaging	1.00
R6622:Ptprt	UTSW	2	161,395,760 (GRCm39)	missense	probably damaging	1.00
R7218:Ptprt	UTSW	2	161,389,284 (GRCm39)	missense	probably damaging	1.00
R7247:Ptprt	UTSW	2	161,375,443 (GRCm39)	missense	probably benign	0.15
R7576:Ptprt	UTSW	2	161,449,225 (GRCm39)	missense	possibly damaging	0.88
R7733:Ptprt	UTSW	2	161,417,707 (GRCm39)	missense	probably damaging	1.00
R7735:Ptprt	UTSW	2	161,417,661 (GRCm39)	missense	probably damaging	1.00
R7813:Ptprt	UTSW	2	161,372,413 (GRCm39)	missense	probably damaging	1.00
R8031:Ptprt	UTSW	2	161,977,377 (GRCm39)	missense	probably damaging	1.00
R8074:Ptprt	UTSW	2	161,769,581 (GRCm39)	missense	possibly damaging	0.77
R8151:Ptprt	UTSW	2	162,120,005 (GRCm39)	missense	probably damaging	1.00
R8236:Ptprt	UTSW	2	161,528,988 (GRCm39)	critical splice donor site	probably null
R8308:Ptprt	UTSW	2	161,769,566 (GRCm39)	missense	probably benign	0.00
R8348:Ptprt	UTSW	2	161,400,806 (GRCm39)	missense	probably damaging	1.00
R8362:Ptprt	UTSW	2	161,393,667 (GRCm39)	missense	probably damaging	1.00
R8365:Ptprt	UTSW	2	161,743,451 (GRCm39)	missense	probably benign	0.05
R8448:Ptprt	UTSW	2	161,400,806 (GRCm39)	missense	probably damaging	1.00
R8512:Ptprt	UTSW	2	161,400,783 (GRCm39)	missense	probably benign	0.00
R8715:Ptprt	UTSW	2	161,372,463 (GRCm39)	missense	probably damaging	1.00
R9004:Ptprt	UTSW	2	161,608,314 (GRCm39)	missense	probably benign	0.04
R9046:Ptprt	UTSW	2	161,372,361 (GRCm39)	missense	possibly damaging	0.58
R9222:Ptprt	UTSW	2	161,402,106 (GRCm39)	missense	probably damaging	1.00
R9297:Ptprt	UTSW	2	161,417,698 (GRCm39)	missense	probably benign
R9318:Ptprt	UTSW	2	161,417,698 (GRCm39)	missense	probably benign
R9476:Ptprt	UTSW	2	161,397,381 (GRCm39)	missense	probably damaging	1.00
R9510:Ptprt	UTSW	2	161,397,381 (GRCm39)	missense	probably damaging	1.00
R9571:Ptprt	UTSW	2	161,395,732 (GRCm39)	missense	probably benign	0.10
X0064:Ptprt	UTSW	2	161,769,403 (GRCm39)	missense	probably damaging	1.00
Z1088:Ptprt	UTSW	2	162,080,041 (GRCm39)	missense	possibly damaging	0.86
Z1177:Ptprt	UTSW	2	162,204,868 (GRCm39)	missense	possibly damaging	0.77
Z1177:Ptprt	UTSW	2	161,574,807 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16