Mutagenetix > Incidental Mutation

Incidental Mutation 'R4519:Ptprt'

334107

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase receptor type T

Synonyms

RPTPrho

MMRRC Submission

041590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

161363910-162503067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 161406609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 987 (M987V)

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: M968V

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: M968V

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 damaging
Transcript: ENSMUST00000109442
AA Change: M987V

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

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: M987V

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 damaging
Transcript: ENSMUST00000109443
AA Change: M978V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: M978V

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 damaging
Transcript: ENSMUST00000109445
AA Change: M968V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: M968V

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,129,092 (GRCm39)		noncoding transcript	Het
Acadsb	A	T	7: 131,031,733 (GRCm39)	T190S	probably damaging	Het
Adamts17	G	T	7: 66,490,314 (GRCm39)	G132V	probably damaging	Het
Atosa	A	G	9: 74,930,929 (GRCm39)	I957M	probably damaging	Het
Atp8b3	C	T	10: 80,359,681 (GRCm39)	M984I	probably benign	Het
Atp8b4	A	T	2: 126,256,379 (GRCm39)		probably null	Het
Btbd18	T	C	2: 84,497,924 (GRCm39)	Y521H	probably damaging	Het
Casd1	A	G	6: 4,621,102 (GRCm39)	N220S	probably benign	Het
Ccdc112	T	G	18: 46,420,613 (GRCm39)	E379A	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,651 (GRCm39)	I1219T	probably benign	Het
Cntrl	A	T	2: 35,063,123 (GRCm39)	K1573M	probably damaging	Het
Col14a1	A	T	15: 55,251,975 (GRCm39)	I544F	unknown	Het
Cyp20a1	A	T	1: 60,426,306 (GRCm39)	Y416F	probably damaging	Het
Dagla	T	C	19: 10,247,096 (GRCm39)	K132E	probably damaging	Het
Dbn1	A	T	13: 55,624,042 (GRCm39)	I350N	possibly damaging	Het
Ddx41	A	T	13: 55,680,957 (GRCm39)	V329E	probably damaging	Het
Dhx32	A	T	7: 133,335,838 (GRCm39)	Y272N	probably damaging	Het
Fam114a1	C	A	5: 65,163,225 (GRCm39)	P174Q	probably benign	Het
Galnt3	C	A	2: 65,923,954 (GRCm39)	R438L	probably damaging	Het
Ghr	T	A	15: 3,362,970 (GRCm39)	L167F	probably damaging	Het
Glod4	T	A	11: 76,134,397 (GRCm39)	D25V	probably damaging	Het
Gm9767	T	C	10: 25,954,756 (GRCm39)		probably benign	Het
Golga4	T	A	9: 118,388,076 (GRCm39)	S1733T	probably benign	Het
Gsdme	A	T	6: 50,206,333 (GRCm39)	I170N	probably damaging	Het
H2-M10.3	C	T	17: 36,678,722 (GRCm39)		probably null	Het
Kmt2c	T	A	5: 25,568,475 (GRCm39)	K867M	probably damaging	Het
Krt35	A	G	11: 99,985,453 (GRCm39)	V196A	possibly damaging	Het
Ltbp1	A	T	17: 75,671,492 (GRCm39)	M1558L	probably benign	Het
Mcam	T	G	9: 44,052,640 (GRCm39)	M623R	possibly damaging	Het
Mrps26	A	T	2: 130,406,269 (GRCm39)	Q134L	probably benign	Het
Mxra8	T	C	4: 155,927,440 (GRCm39)		probably null	Het
Or13a21	A	G	7: 139,999,123 (GRCm39)	S188P	probably damaging	Het
Or52n20	G	A	7: 104,320,046 (GRCm39)	G46R	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Parg	C	A	14: 31,931,592 (GRCm39)	T404K	probably damaging	Het
Parp8	C	A	13: 117,032,209 (GRCm39)	L321F	possibly damaging	Het
Piezo2	T	C	18: 63,205,951 (GRCm39)	E1486G	probably damaging	Het
Pign	A	T	1: 105,525,391 (GRCm39)		probably null	Het
Pik3r4	A	G	9: 105,549,924 (GRCm39)	H1005R	probably damaging	Het
Ppp6r1	A	C	7: 4,644,045 (GRCm39)		probably null	Het
Ptdss2	A	G	7: 140,734,491 (GRCm39)	T309A	probably benign	Het
Rgs17	C	A	10: 5,868,192 (GRCm39)	L9F	probably benign	Het
Rock2	A	G	12: 17,027,738 (GRCm39)	R168G	probably damaging	Het
Rsph4a	T	A	10: 33,787,623 (GRCm39)	L593*	probably null	Het
Scaf11	C	A	15: 96,322,719 (GRCm39)	K108N	probably damaging	Het
Sec23b	T	A	2: 144,423,935 (GRCm39)	M528K	possibly damaging	Het
Shank2	G	A	7: 143,963,942 (GRCm39)	D727N	probably damaging	Het
Sipa1l2	T	C	8: 126,218,965 (GRCm39)	D124G	probably benign	Het
Spatc1	A	T	15: 76,176,685 (GRCm39)	I479F	probably damaging	Het
Tmem126b	A	G	7: 90,118,316 (GRCm39)	L188P	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Vmn2r62	A	G	7: 42,413,957 (GRCm39)	F829L	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
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
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'- ATGGATGCTGCTCAGATGTG -3'
(R):5'- AACTTGGTATTCCACTAGGGCTC -3'

Sequencing Primer
(F):5'- CATCCCTGTAGGCTGCTGTAAG -3'
(R):5'- AGGGCTCCTCTACACTCG -3'

Posted On

2015-08-18