Mutagenetix > Incidental Mutation

Incidental Mutation 'R3758:Ptprt'

271511

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase, receptor type, T

Synonyms

RPTPrho

MMRRC Submission

040739-MU

Accession Numbers

Essential gene?

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

Stock #

R3758 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161521990-162661147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 161812030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 560 (L560Q)

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 damaging
Transcript: ENSMUST00000109441
AA Change: L560Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: L560Q

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: L560Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: L560Q

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: L560Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: L560Q

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: L560Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: L560Q

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

0.8367

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

93% (28/30)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	A	G	17: 12,927,467 (GRCm38)		probably benign	Het
Bcat1	T	A	6: 145,032,872 (GRCm38)	I208F	probably damaging	Het
Cage1	A	C	13: 38,025,729 (GRCm38)	F91V	possibly damaging	Het
Cd200r3	T	G	16: 44,964,628 (GRCm38)		probably null	Het
Coq8b	C	T	7: 27,242,227 (GRCm38)	Q246*	probably null	Het
Dmxl1	G	A	18: 49,935,317 (GRCm38)	G2719D	probably damaging	Het
Fbln2	T	C	6: 91,256,381 (GRCm38)	S616P	probably damaging	Het
Fkbp10	G	A	11: 100,422,625 (GRCm38)		probably null	Het
Gabra1	G	T	11: 42,175,936 (GRCm38)	D50E	probably benign	Het
Hist1h1e	T	A	13: 23,622,257 (GRCm38)	K81*	probably null	Het
Hmgcs2	A	G	3: 98,291,090 (GRCm38)	N103S	probably damaging	Het
Htt	A	G	5: 34,895,970 (GRCm38)	H2549R	probably damaging	Het
Lrba	A	G	3: 86,776,049 (GRCm38)	E2726G	probably damaging	Het
Lrrc7	T	C	3: 158,163,965 (GRCm38)	N706D	probably damaging	Het
Mill1	G	A	7: 18,262,703 (GRCm38)		probably null	Het
Nipa2	T	C	7: 55,935,941 (GRCm38)	Y102C	probably damaging	Het
Nmd3	T	A	3: 69,724,308 (GRCm38)	C32*	probably null	Het
Olfr1251	A	G	2: 89,667,572 (GRCm38)	F105L	probably benign	Het
Olfr582	A	G	7: 103,041,970 (GRCm38)	S159G	probably benign	Het
Olfr745	A	G	14: 50,643,036 (GRCm38)	K252E	possibly damaging	Het
Olfr777	T	C	10: 129,269,065 (GRCm38)	D86G	probably damaging	Het
Pcdhb7	A	G	18: 37,343,026 (GRCm38)	D405G	possibly damaging	Het
Serpinb9b	A	G	13: 33,035,588 (GRCm38)	Y166C	probably damaging	Het
Soga1	T	C	2: 157,020,638 (GRCm38)	N1457S	possibly damaging	Het
Sprr1a	T	G	3: 92,484,397 (GRCm38)	K99T	probably damaging	Het
Spsb4	A	G	9: 96,995,871 (GRCm38)	V133A	probably damaging	Het
Suz12	A	G	11: 80,024,942 (GRCm38)	T391A	probably benign	Het
Tor1aip2	A	G	1: 156,065,289 (GRCm38)	E447G	probably damaging	Het
Ube4a	G	A	9: 44,949,900 (GRCm38)		probably benign	Het
Wdfy4	A	C	14: 33,023,374 (GRCm38)	H2296Q	probably benign	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
R1023:Ptprt	UTSW	2	161,558,943 (GRCm38)	missense	probably damaging	1.00
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
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'- ATCGTTCCATTGCCATCAGTG -3'
(R):5'- GTCACATAGTGGCTTAGCTTACC -3'

Sequencing Primer
(F):5'- CCATTGCCATCAGTGATAGTTG -3'
(R):5'- GCTGCCCCTCTCTAGTGAG -3'

Posted On

2015-03-18