Mutagenetix > Incidental Mutation

Incidental Mutation 'R8715:Ptprt'

669800

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase receptor type T

Synonyms

RPTPrho

MMRRC Submission

068613-MU

Accession Numbers

Essential gene?

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

Stock #

R8715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161363910-162503067 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 161372463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 1403 (C1403Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105067 (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: C1403Y

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

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: C1403Y

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: C1402Y

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

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: C1402Y

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: C1393Y

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

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: C1393Y

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: C1383Y

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

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: C1383Y

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	T	5: 8,862,750 (GRCm39)	H144L	probably benign	Het
Adam25	A	G	8: 41,207,099 (GRCm39)	N122D	probably benign	Het
Armc10	T	C	5: 21,858,516 (GRCm39)	F187S	possibly damaging	Het
Atosb	A	G	4: 43,033,944 (GRCm39)	V444A	possibly damaging	Het
Best3	T	A	10: 116,828,971 (GRCm39)	F84I	probably damaging	Het
Card11	A	T	5: 140,871,315 (GRCm39)	D729E	probably benign	Het
Ccdc60	A	T	5: 116,328,153 (GRCm39)	F104I	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdhr4	G	A	9: 107,874,596 (GRCm39)	V9M		Het
Cfap46	T	C	7: 139,185,560 (GRCm39)	T41A		Het
Cyp2c66	A	G	19: 39,159,388 (GRCm39)	T280A	probably benign	Het
Dis3l	C	T	9: 64,214,342 (GRCm39)	D1049N	probably benign	Het
Dlc1	T	A	8: 37,405,795 (GRCm39)		probably benign	Het
Faap100	T	C	11: 120,265,299 (GRCm39)	T526A	probably benign	Het
Gimap6	A	T	6: 48,679,552 (GRCm39)	D161E	probably damaging	Het
Gmpr	T	C	13: 45,696,102 (GRCm39)	V282A	possibly damaging	Het
Gsap	A	G	5: 21,431,245 (GRCm39)	I190V	possibly damaging	Het
Gucy2d	C	T	7: 98,093,319 (GRCm39)	T232I	probably benign	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lrp1	C	A	10: 127,396,490 (GRCm39)	S2358I	possibly damaging	Het
Lrrc74a	A	G	12: 86,805,239 (GRCm39)	N354D	probably damaging	Het
Mdga2	T	C	12: 66,915,526 (GRCm39)	E112G	probably damaging	Het
Msh6	C	T	17: 88,293,195 (GRCm39)	T650I	probably benign	Het
Mst1	T	C	9: 107,959,242 (GRCm39)	V203A	possibly damaging	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Naa11	A	G	5: 97,540,066 (GRCm39)	Y31H	probably damaging	Het
Nphp1	G	T	2: 127,605,729 (GRCm39)	H365Q	possibly damaging	Het
Or1p4-ps1	T	A	11: 74,207,986 (GRCm39)	I45N	probably damaging	Het
Or2y17	A	T	11: 49,232,154 (GRCm39)	Y265F	probably damaging	Het
Or5m13	G	A	2: 85,748,273 (GRCm39)	M1I	probably null	Het
Osbpl9	A	G	4: 108,959,773 (GRCm39)	F15S	probably benign	Het
Pcdha12	A	C	18: 37,153,523 (GRCm39)	N81H	probably damaging	Het
Pde4d	A	G	13: 110,071,876 (GRCm39)	Q290R	probably benign	Het
Pla1a	A	T	16: 38,230,000 (GRCm39)	N237K	probably damaging	Het
Podnl1	T	C	8: 84,855,956 (GRCm39)	Y239H		Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ptch2	T	C	4: 116,968,719 (GRCm39)	V995A	probably damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rspry1	A	G	8: 95,349,888 (GRCm39)	E92G	probably damaging	Het
Sdccag8	T	A	1: 176,773,803 (GRCm39)		probably benign	Het
Sdk2	G	A	11: 113,671,728 (GRCm39)	T2140M	probably damaging	Het
Serpina1e	T	C	12: 103,917,177 (GRCm39)	N164S	probably benign	Het
Shisal1	A	C	15: 84,301,346 (GRCm39)	V99G	probably damaging	Het
Tdrkh	T	C	3: 94,331,968 (GRCm39)	V131A	probably damaging	Het
Tm9sf3	T	A	19: 41,244,724 (GRCm39)	N51I	probably damaging	Het
Trav4-3	A	G	14: 53,836,762 (GRCm39)	N76D	possibly damaging	Het
Trhr2	T	A	8: 123,085,619 (GRCm39)	I122F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn2r99	A	T	17: 19,613,922 (GRCm39)		probably benign	Het
Zfp663	T	C	2: 165,194,644 (GRCm39)	E525G	probably damaging	Het
Zfp976	C	T	7: 42,262,869 (GRCm39)	E324K	possibly 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
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
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'- TGCCCAGTCACAGTTTTCAG -3'
(R):5'- TGGGGAACTTGGAACACTGAC -3'

Sequencing Primer
(F):5'- CCAGTCACAGTTTTCAGGTCTGG -3'
(R):5'- AGGAGTGTCTTTCCCAAAGTC -3'

Posted On

2021-04-30