Mutagenetix > Incidental Mutation

Incidental Mutation 'R4003:Ptprt'

311335

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase receptor type T

Synonyms

RPTPrho

MMRRC Submission

040945-MU

Accession Numbers

Essential gene?

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

Stock #

R4003 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

161363910-162503067 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 161408037 bp (GRCm39)

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 benign
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 benign
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 benign
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 benign
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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

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. 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,451,040 (GRCm39)	M350L	probably benign	Het
Adgrf4	A	T	17: 42,980,650 (GRCm39)	I145N	probably damaging	Het
Adgrv1	GA	GAA	13: 81,688,251 (GRCm39)		probably null	Het
Bmp8b	T	A	4: 123,015,671 (GRCm39)		probably benign	Het
Cdhr2	A	T	13: 54,866,079 (GRCm39)	E293V	probably benign	Het
Cerkl	C	A	2: 79,259,138 (GRCm39)	R33L	possibly damaging	Het
Chd9	C	T	8: 91,683,185 (GRCm39)	R542C	probably damaging	Het
Csnk2a1	A	G	2: 152,092,495 (GRCm39)	E22G	probably damaging	Het
Dnah7c	A	G	1: 46,720,977 (GRCm39)	K2834E	probably damaging	Het
Eftud2	C	T	11: 102,750,936 (GRCm39)	E286K	possibly damaging	Het
Elapor2	A	C	5: 9,490,877 (GRCm39)	E629A	probably benign	Het
Fam222b	C	T	11: 78,045,755 (GRCm39)	P439S	probably benign	Het
Gsn	A	G	2: 35,173,995 (GRCm39)	K35E	probably benign	Het
Hif3a	T	A	7: 16,778,844 (GRCm39)	Q358H	probably damaging	Het
L3hypdh	T	C	12: 72,131,890 (GRCm39)	D14G	probably benign	Het
Map2	T	C	1: 66,454,899 (GRCm39)	I1263T	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,959 (GRCm39)	T11A	probably benign	Het
Mylk	C	A	16: 34,783,947 (GRCm39)	A1371D	probably benign	Het
Myo1b	A	G	1: 51,838,689 (GRCm39)		probably null	Het
Or7g35	T	G	9: 19,496,010 (GRCm39)	M59R	probably damaging	Het
Pkp3	A	G	7: 140,668,650 (GRCm39)		probably null	Het
Ppp4r3c1	T	C	X: 88,974,116 (GRCm39)	I694V	probably benign	Het
Rabep1	T	A	11: 70,808,193 (GRCm39)	M340K	probably benign	Het
Scn10a	T	C	9: 119,438,034 (GRCm39)	D1945G	probably null	Het
Slc22a2	A	T	17: 12,831,337 (GRCm39)	I376F	probably benign	Het
Slc34a1	T	C	13: 55,550,474 (GRCm39)		probably benign	Het
Smc2	T	C	4: 52,462,897 (GRCm39)	V629A	probably damaging	Het
Stab2	G	T	10: 86,693,988 (GRCm39)	D633E	probably damaging	Het
Tmco3	G	A	8: 13,341,959 (GRCm39)	V78M	probably damaging	Het
Tnfaip2	C	T	12: 111,417,778 (GRCm39)		probably benign	Het
Tnfrsf25	T	C	4: 152,204,058 (GRCm39)	M333T	probably damaging	Het
Triobp	A	G	15: 78,844,177 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 75,012,978 (GRCm39)	G151E	probably damaging	Het
Zfp236	A	T	18: 82,698,870 (GRCm39)	C70*	probably null	Het
Zfp384	T	C	6: 125,010,200 (GRCm39)		probably benign	Het
Zfp619	A	G	7: 39,186,730 (GRCm39)	E920G	possibly damaging	Het
Zhx3	G	A	2: 160,622,809 (GRCm39)	P453S	probably damaging	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
IGL02447:Ptprt	APN	2	162,120,027 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTTGCCCCTGTCTCACTG -3'
(R):5'- GCTCTACACACAGTCTTATATGGTC -3'

Sequencing Primer
(F):5'- ACTGGCTTCTCTATCTGCAAAATC -3'
(R):5'- GGTCTTTAATACTCCTCTGAAGATGC -3'

Posted On

2015-04-29