Mutagenetix > Incidental Mutation

Incidental Mutation 'R1023:Ptprt'

94589

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase, receptor type, T

Synonyms

RPTPrho

MMRRC Submission

039125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R1023 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161521990-162661147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 161558943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1057 (L1057P)

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 damaging
Transcript: ENSMUST00000109441
AA Change: L1058P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: L1058P

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: L1057P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: L1057P

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: L1048P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: L1048P

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: L1038P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: L1038P

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

0.5311

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,066,871 (GRCm38)	A607V	probably damaging	Het
4930523C07Rik	A	G	1: 160,077,487 (GRCm38)		probably benign	Het
Ap3d1	A	T	10: 80,714,258 (GRCm38)	L713Q	probably damaging	Het
Baz2a	A	G	10: 128,121,807 (GRCm38)	T1010A	possibly damaging	Het
Cd163l1	T	A	7: 140,224,463 (GRCm38)	C484S	possibly damaging	Het
Cdh15	T	C	8: 122,865,200 (GRCm38)	I608T	probably damaging	Het
Cdkl2	A	T	5: 92,039,286 (GRCm38)	D40E	possibly damaging	Het
Col9a2	G	A	4: 121,044,010 (GRCm38)	G118R	unknown	Het
Cryge	C	A	1: 65,050,786 (GRCm38)	C79F	probably damaging	Het
Dapk1	T	C	13: 60,730,985 (GRCm38)	L596P	probably damaging	Het
Dqx1	G	A	6: 83,061,089 (GRCm38)	C486Y	probably damaging	Het
Enam	A	G	5: 88,501,967 (GRCm38)	Q445R	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably benign	Het
Gnpat	A	T	8: 124,870,780 (GRCm38)	D27V	probably benign	Het
Htr5a	A	T	5: 27,842,998 (GRCm38)	T184S	possibly damaging	Het
Lap3	C	T	5: 45,495,211 (GRCm38)	P50S	probably benign	Het
Mamdc2	A	T	19: 23,310,907 (GRCm38)	M589K	probably damaging	Het
Mast4	A	G	13: 102,735,496 (GRCm38)	S2263P	probably benign	Het
Mef2b	C	T	8: 70,165,597 (GRCm38)	P109L	possibly damaging	Het
Meltf	T	A	16: 31,884,960 (GRCm38)	F168L	probably damaging	Het
Mib2	C	T	4: 155,659,460 (GRCm38)	G42S	probably damaging	Het
Nup205	T	A	6: 35,234,706 (GRCm38)	F1661I	probably damaging	Het
Olfr187	A	T	16: 59,035,815 (GRCm38)	N307K	probably benign	Het
Olfr747	A	T	14: 50,681,016 (GRCm38)	L206H	probably damaging	Het
Plac8	A	T	5: 100,556,581 (GRCm38)	D83E	probably benign	Het
Pnpt1	T	C	11: 29,141,328 (GRCm38)		probably benign	Het
Pold2	G	T	11: 5,875,140 (GRCm38)	Q86K	probably benign	Het
Rev3l	A	G	10: 39,832,639 (GRCm38)	H2284R	probably damaging	Het
Skint6	A	C	4: 113,238,103 (GRCm38)	S120A	probably benign	Het
Slc1a7	G	A	4: 108,007,573 (GRCm38)	V270M	probably damaging	Het
Spata2	A	G	2: 167,485,222 (GRCm38)	M85T	probably benign	Het
Taf1b	G	T	12: 24,509,559 (GRCm38)		probably benign	Het
Tert	A	G	13: 73,642,059 (GRCm38)	N844S	probably benign	Het
Thrap3	G	A	4: 126,180,089 (GRCm38)	S288L	possibly damaging	Het
Ubap2l	A	G	3: 90,047,873 (GRCm38)		probably benign	Het
Ubtf	T	C	11: 102,311,450 (GRCm38)	E197G	possibly damaging	Het
Usp20	G	T	2: 31,007,813 (GRCm38)	G216W	probably damaging	Het
Wdr60	T	C	12: 116,232,657 (GRCm38)	E490G	probably damaging	Het
Yy1	T	A	12: 108,793,531 (GRCm38)	V40E	unknown	Het
Zfp335	G	A	2: 164,892,585 (GRCm38)	H1254Y	possibly damaging	Het

Other mutations in Ptprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00231:Ptprt	APN	2	161,810,624 (GRCm38)	missense	probably benign	0.00
IGL00565:Ptprt	APN	2	161,560,191 (GRCm38)	missense	probably damaging	1.00
IGL00925:Ptprt	APN	2	161,656,163 (GRCm38)	missense	possibly damaging	0.52
IGL01344:Ptprt	APN	2	161,551,817 (GRCm38)	missense	probably damaging	1.00
IGL01432:Ptprt	APN	2	162,268,079 (GRCm38)	splice site	probably benign
IGL02008:Ptprt	APN	2	161,927,673 (GRCm38)	missense	probably benign	0.02
IGL02040:Ptprt	APN	2	162,238,072 (GRCm38)	missense	probably damaging	1.00
IGL02172:Ptprt	APN	2	161,555,502 (GRCm38)	missense	probably damaging	1.00
IGL02231:Ptprt	APN	2	162,278,046 (GRCm38)	critical splice donor site	probably null
IGL02231:Ptprt	APN	2	162,238,060 (GRCm38)	missense	probably damaging	1.00
IGL02232:Ptprt	APN	2	161,530,517 (GRCm38)	missense	probably damaging	0.96
IGL02277:Ptprt	APN	2	161,547,381 (GRCm38)	missense	probably damaging	1.00
IGL02447:Ptprt	APN	2	162,278,107 (GRCm38)	missense	probably benign	0.01
IGL02601:Ptprt	APN	2	161,766,307 (GRCm38)	missense	probably benign	0.10
IGL02623:Ptprt	APN	2	161,607,452 (GRCm38)	splice site	probably benign
IGL03379:Ptprt	APN	2	161,555,459 (GRCm38)	nonsense	probably null
Poverina	UTSW	2	161,901,497 (GRCm38)	missense	possibly damaging	0.70
IGL03055:Ptprt	UTSW	2	161,533,613 (GRCm38)	missense	probably damaging	0.96
R0064:Ptprt	UTSW	2	161,927,791 (GRCm38)	splice site	probably benign
R0129:Ptprt	UTSW	2	162,278,070 (GRCm38)	missense	probably benign	0.35
R0131:Ptprt	UTSW	2	162,278,110 (GRCm38)	missense	probably benign	0.00
R0131:Ptprt	UTSW	2	162,278,110 (GRCm38)	missense	probably benign	0.00
R0132:Ptprt	UTSW	2	162,278,110 (GRCm38)	missense	probably benign	0.00
R0316:Ptprt	UTSW	2	161,607,319 (GRCm38)	missense	probably damaging	1.00
R0454:Ptprt	UTSW	2	161,553,822 (GRCm38)	missense	probably damaging	0.96
R0488:Ptprt	UTSW	2	161,553,825 (GRCm38)	missense	probably damaging	0.99
R0573:Ptprt	UTSW	2	161,551,748 (GRCm38)	missense	probably damaging	1.00
R0614:Ptprt	UTSW	2	161,812,120 (GRCm38)	missense	possibly damaging	0.59
R0834:Ptprt	UTSW	2	161,812,139 (GRCm38)	splice site	probably null
R1184:Ptprt	UTSW	2	161,927,772 (GRCm38)	missense	possibly damaging	0.82
R1253:Ptprt	UTSW	2	162,278,226 (GRCm38)	missense	probably damaging	1.00
R1476:Ptprt	UTSW	2	161,927,484 (GRCm38)	missense	probably damaging	1.00
R1515:Ptprt	UTSW	2	162,238,034 (GRCm38)	missense	probably damaging	1.00
R1595:Ptprt	UTSW	2	161,810,549 (GRCm38)	critical splice donor site	probably null
R1939:Ptprt	UTSW	2	161,927,640 (GRCm38)	missense	probably benign	0.45
R1987:Ptprt	UTSW	2	161,766,321 (GRCm38)	missense	possibly damaging	0.48
R1987:Ptprt	UTSW	2	161,558,898 (GRCm38)	missense	probably damaging	1.00
R2049:Ptprt	UTSW	2	161,534,545 (GRCm38)	missense	probably damaging	1.00
R2140:Ptprt	UTSW	2	161,811,988 (GRCm38)	missense	probably damaging	1.00
R2421:Ptprt	UTSW	2	162,278,040 (GRCm38)	splice site	probably benign
R3432:Ptprt	UTSW	2	161,927,529 (GRCm38)	missense	probably damaging	1.00
R3619:Ptprt	UTSW	2	161,566,157 (GRCm38)	missense	probably damaging	1.00
R3757:Ptprt	UTSW	2	161,812,030 (GRCm38)	missense	probably damaging	1.00
R3758:Ptprt	UTSW	2	161,812,030 (GRCm38)	missense	probably damaging	1.00
R3834:Ptprt	UTSW	2	161,547,387 (GRCm38)	missense	probably damaging	1.00
R3835:Ptprt	UTSW	2	161,547,387 (GRCm38)	missense	probably damaging	1.00
R3915:Ptprt	UTSW	2	161,555,555 (GRCm38)	splice site	probably benign
R4003:Ptprt	UTSW	2	161,566,117 (GRCm38)	splice site	probably benign
R4387:Ptprt	UTSW	2	161,927,650 (GRCm38)	missense	probably damaging	1.00
R4519:Ptprt	UTSW	2	161,564,689 (GRCm38)	missense	probably damaging	1.00
R4618:Ptprt	UTSW	2	161,553,845 (GRCm38)	missense	probably damaging	1.00
R4677:Ptprt	UTSW	2	161,901,446 (GRCm38)	critical splice donor site	probably null
R4866:Ptprt	UTSW	2	161,560,239 (GRCm38)	missense	probably damaging	1.00
R5088:Ptprt	UTSW	2	162,238,175 (GRCm38)	missense	probably benign	0.01
R5173:Ptprt	UTSW	2	161,927,756 (GRCm38)	missense	probably benign	0.01
R5215:Ptprt	UTSW	2	162,278,164 (GRCm38)	missense	probably damaging	1.00
R5383:Ptprt	UTSW	2	161,698,049 (GRCm38)	missense	probably damaging	1.00
R5398:Ptprt	UTSW	2	161,927,592 (GRCm38)	missense	probably damaging	1.00
R5518:Ptprt	UTSW	2	162,278,223 (GRCm38)	missense	probably damaging	0.99
R5711:Ptprt	UTSW	2	161,810,604 (GRCm38)	missense	probably damaging	0.98
R5735:Ptprt	UTSW	2	161,534,564 (GRCm38)	missense	probably damaging	0.98
R5834:Ptprt	UTSW	2	161,560,269 (GRCm38)	missense	probably damaging	1.00
R5872:Ptprt	UTSW	2	162,135,218 (GRCm38)	missense	probably damaging	1.00
R5926:Ptprt	UTSW	2	161,564,686 (GRCm38)	missense	probably benign	0.00
R6210:Ptprt	UTSW	2	162,268,029 (GRCm38)	missense	probably damaging	1.00
R6285:Ptprt	UTSW	2	161,901,497 (GRCm38)	missense	possibly damaging	0.70
R6298:Ptprt	UTSW	2	161,553,859 (GRCm38)	missense	probably damaging	1.00
R6406:Ptprt	UTSW	2	161,553,783 (GRCm38)	missense	probably damaging	0.98
R6499:Ptprt	UTSW	2	161,534,587 (GRCm38)	missense	probably benign	0.32
R6613:Ptprt	UTSW	2	161,530,447 (GRCm38)	missense	probably damaging	1.00
R6622:Ptprt	UTSW	2	161,553,840 (GRCm38)	missense	probably damaging	1.00
R7218:Ptprt	UTSW	2	161,547,364 (GRCm38)	missense	probably damaging	1.00
R7247:Ptprt	UTSW	2	161,533,523 (GRCm38)	missense	probably benign	0.15
R7576:Ptprt	UTSW	2	161,607,305 (GRCm38)	missense	possibly damaging	0.88
R7733:Ptprt	UTSW	2	161,575,787 (GRCm38)	missense	probably damaging	1.00
R7735:Ptprt	UTSW	2	161,575,741 (GRCm38)	missense	probably damaging	1.00
R7813:Ptprt	UTSW	2	161,530,493 (GRCm38)	missense	probably damaging	1.00
R8031:Ptprt	UTSW	2	162,135,457 (GRCm38)	missense	probably damaging	1.00
R8074:Ptprt	UTSW	2	161,927,661 (GRCm38)	missense	possibly damaging	0.77
R8151:Ptprt	UTSW	2	162,278,085 (GRCm38)	missense	probably damaging	1.00
R8236:Ptprt	UTSW	2	161,687,068 (GRCm38)	critical splice donor site	probably null
R8308:Ptprt	UTSW	2	161,927,646 (GRCm38)	missense	probably benign	0.00
R8348:Ptprt	UTSW	2	161,558,886 (GRCm38)	missense	probably damaging	1.00
R8362:Ptprt	UTSW	2	161,551,747 (GRCm38)	missense	probably damaging	1.00
R8365:Ptprt	UTSW	2	161,901,531 (GRCm38)	missense	probably benign	0.05
R8448:Ptprt	UTSW	2	161,558,886 (GRCm38)	missense	probably damaging	1.00
R8512:Ptprt	UTSW	2	161,558,863 (GRCm38)	missense	probably benign	0.00
R8715:Ptprt	UTSW	2	161,530,543 (GRCm38)	missense	probably damaging	1.00
R9004:Ptprt	UTSW	2	161,766,394 (GRCm38)	missense	probably benign	0.04
R9046:Ptprt	UTSW	2	161,530,441 (GRCm38)	missense	possibly damaging	0.58
R9222:Ptprt	UTSW	2	161,560,186 (GRCm38)	missense	probably damaging	1.00
R9297:Ptprt	UTSW	2	161,575,778 (GRCm38)	missense	probably benign
R9318:Ptprt	UTSW	2	161,575,778 (GRCm38)	missense	probably benign
R9476:Ptprt	UTSW	2	161,555,461 (GRCm38)	missense	probably damaging	1.00
R9510:Ptprt	UTSW	2	161,555,461 (GRCm38)	missense	probably damaging	1.00
R9571:Ptprt	UTSW	2	161,553,812 (GRCm38)	missense	probably benign	0.10
X0064:Ptprt	UTSW	2	161,927,483 (GRCm38)	missense	probably damaging	1.00
Z1088:Ptprt	UTSW	2	162,238,121 (GRCm38)	missense	possibly damaging	0.86
Z1177:Ptprt	UTSW	2	162,362,948 (GRCm38)	missense	possibly damaging	0.77
Z1177:Ptprt	UTSW	2	161,732,887 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCTGCTAAGCCCCATTGTGTC -3'
(R):5'- GCCGAGTTTCCATGAGTTAACACCC -3'

Sequencing Primer
(F):5'- TGGGACAGGATAGTATCACCCTC -3'
(R):5'- GTTTCCATGAGTTAACACCCATTCAC -3'

Posted On

2014-01-05