Mutagenetix > Incidental Mutation

Incidental Mutation 'R5173:Ptprt'

398872

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase receptor type T

Synonyms

RPTPrho

MMRRC Submission

042753-MU

Accession Numbers

Essential gene?

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

Stock #

R5173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

161363910-162503067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 161769676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 396 (N396K)

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
AA Change: N396K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: N396K

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: N396K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: N396K

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: N396K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: N396K

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: N396K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: N396K

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

100% (50/50)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	AC	A	11: 9,632,032 (GRCm39)		probably null	Het
Abca6	A	T	11: 110,082,546 (GRCm39)	F1142L	probably benign	Het
Ap1g1	T	A	8: 110,577,764 (GRCm39)		probably null	Het
Apob	T	C	12: 8,058,238 (GRCm39)	V2207A	probably benign	Het
Cenpp	CAAACCTGAAAA	CAAA	13: 49,618,258 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,260,069 (GRCm39)		probably benign	Het
Coch	C	A	12: 51,643,290 (GRCm39)	Y103*	probably null	Het
Cul3	A	T	1: 80,259,133 (GRCm39)	D382E	possibly damaging	Het
Cul5	T	C	9: 53,554,034 (GRCm39)	T291A	probably benign	Het
Dab1	T	C	4: 104,545,645 (GRCm39)		probably null	Het
Dmtf1	A	G	5: 9,190,356 (GRCm39)		probably benign	Het
Dpp4	T	C	2: 62,217,474 (GRCm39)	Y41C	probably damaging	Het
Eif2ak4	A	G	2: 118,238,841 (GRCm39)	I45M	probably damaging	Het
Epn3	T	C	11: 94,386,923 (GRCm39)	K149R	probably damaging	Het
Flnc	A	G	6: 29,455,537 (GRCm39)	E2029G	probably damaging	Het
Gm5799	A	G	14: 43,782,116 (GRCm39)	N96S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Grik5	T	C	7: 24,762,319 (GRCm39)	H224R	possibly damaging	Het
Lpar6	A	T	14: 73,476,537 (GRCm39)	E166V	probably benign	Het
Mical1	T	C	10: 41,360,985 (GRCm39)	L683P	probably damaging	Het
Mis18bp1	T	C	12: 65,196,149 (GRCm39)	I538M	possibly damaging	Het
Mobp	A	G	9: 119,997,311 (GRCm39)	R77G	possibly damaging	Het
Muc21	G	T	17: 35,931,633 (GRCm39)		probably benign	Het
Mylk	A	G	16: 34,797,383 (GRCm39)	H1614R	probably benign	Het
Or2y16	T	C	11: 49,334,713 (GRCm39)	F12L	probably benign	Het
Or4p18	G	A	2: 88,233,266 (GRCm39)	T4I	probably benign	Het
Or7c19	T	C	8: 85,957,205 (GRCm39)	L27P	probably damaging	Het
Osbpl1a	C	T	18: 12,895,697 (GRCm39)	V390I	probably benign	Het
Pcdha7	C	A	18: 37,107,705 (GRCm39)	D243E	probably benign	Het
Pi4ka	A	T	16: 17,168,770 (GRCm39)	N653K	possibly damaging	Het
Plin5	T	G	17: 56,422,548 (GRCm39)		probably null	Het
Plod1	A	G	4: 148,000,758 (GRCm39)		probably benign	Het
Psd3	T	C	8: 68,149,641 (GRCm39)	K372E	probably damaging	Het
Psmd11	C	T	11: 80,351,566 (GRCm39)	T263I	probably benign	Het
Rab39	T	C	9: 53,597,800 (GRCm39)	E155G	probably damaging	Het
Rimbp2	T	C	5: 128,874,712 (GRCm39)	D293G	probably benign	Het
Rnf220	T	C	4: 117,146,471 (GRCm39)		probably benign	Het
Rnmt	C	T	18: 68,454,430 (GRCm39)		probably benign	Het
Slc10a1	T	A	12: 81,002,802 (GRCm39)	I279F	probably damaging	Het
Sp140l1	G	A	1: 85,078,288 (GRCm39)	R54*	probably null	Het
Taar6	A	G	10: 23,861,250 (GRCm39)	Y99H	probably damaging	Het
Tas2r144	T	A	6: 42,193,048 (GRCm39)	F263I	probably benign	Het
Tex15	T	A	8: 34,061,768 (GRCm39)	N399K	possibly damaging	Het
Tlr9	T	A	9: 106,103,151 (GRCm39)	V814D	possibly damaging	Het
Tmem53	T	A	4: 117,122,908 (GRCm39)		probably benign	Het
Ubap2l	T	C	3: 89,928,337 (GRCm39)	I511V	possibly damaging	Het
Vmn2r60	T	C	7: 41,844,935 (GRCm39)	M766T	probably damaging	Het
Zfp462	T	C	4: 55,011,115 (GRCm39)	V1027A	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
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
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'- AGTCTGATGGTCATGAAGGGC -3'
(R):5'- AGACCTGTGTGCTTCAATAGG -3'

Sequencing Primer
(F):5'- TCATGAAGGGCCGTAGACC -3'
(R):5'- CTGTTAATTATGCTGCAGGT -3'

Posted On

2016-07-06