Mutagenetix > Incidental Mutation

Incidental Mutation 'R6210:Ptprt'

503388

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase, receptor type, T

Synonyms

RPTPrho

MMRRC Submission

044344-MU

Accession Numbers

Essential gene?

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

Stock #

R6210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

161521990-162661147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 162268029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 180 (Y180C)

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: Y180C

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

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: Y180C

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: Y180C

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

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: Y180C

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: Y180C

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

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: Y180C

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: Y180C

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

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: Y180C

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

0.2984

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (52/55)

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
Abhd3	T	A	18: 10,706,032 (GRCm38)	I94F	probably damaging	Het
Bbox1	A	T	2: 110,270,077 (GRCm38)	D258E	probably benign	Het
Catsperb	A	G	12: 101,412,568 (GRCm38)		probably null	Het
Ccdc127	T	C	13: 74,356,921 (GRCm38)	V196A	probably benign	Het
Cd101	A	T	3: 101,018,643 (GRCm38)	D253E	probably damaging	Het
Ceacam15	T	C	7: 16,673,289 (GRCm38)	Y101C	probably damaging	Het
Cep135	C	T	5: 76,624,723 (GRCm38)	L652F	probably benign	Het
Col5a1	G	T	2: 28,032,621 (GRCm38)	V234L	probably benign	Het
Cxcr6	T	C	9: 123,810,008 (GRCm38)	S25P	possibly damaging	Het
Dctn4	C	T	18: 60,546,793 (GRCm38)	Q258*	probably null	Het
Fmnl2	A	T	2: 53,130,445 (GRCm38)	N1067I	possibly damaging	Het
Frrs1	A	T	3: 116,878,431 (GRCm38)	K59N	probably benign	Het
Gpr157	T	C	4: 150,101,598 (GRCm38)	Y206H	probably damaging	Het
Hephl1	A	G	9: 15,090,564 (GRCm38)	Y161H	possibly damaging	Het
Hinfp	C	T	9: 44,298,872 (GRCm38)		probably null	Het
Igf2r	A	T	17: 12,714,951 (GRCm38)	N805K	probably damaging	Het
Ilrun	A	T	17: 27,767,986 (GRCm38)	D255E	probably benign	Het
Itga3	T	C	11: 95,068,891 (GRCm38)		probably benign	Het
Itga6	A	G	2: 71,834,007 (GRCm38)		probably null	Het
Kcnip1	G	A	11: 33,645,600 (GRCm38)	T30I	possibly damaging	Het
Lig4	T	C	8: 9,971,585 (GRCm38)	T732A	probably benign	Het
Lmod3	T	A	6: 97,247,301 (GRCm38)	T520S	probably damaging	Het
Megf8	G	A	7: 25,343,720 (GRCm38)	V1356I	possibly damaging	Het
Mical3	C	T	6: 121,040,517 (GRCm38)		probably null	Het
Msi1	T	C	5: 115,435,476 (GRCm38)	I8T	probably damaging	Het
Mug4-ps	A	T	6: 121,950,317 (GRCm38)		noncoding transcript	Het
Myo1f	T	A	17: 33,601,070 (GRCm38)	I783N	probably damaging	Het
Nr6a1	A	C	2: 38,729,497 (GRCm38)	I462S	probably damaging	Het
Or2t48	C	T	11: 58,529,264 (GRCm38)	A241T	probably damaging	Het
Or8k23	A	G	2: 86,356,358 (GRCm38)	V8A	probably benign	Het
Pah	C	A	10: 87,583,561 (GRCm38)	Q449K	probably benign	Het
Pced1a	A	G	2: 130,421,919 (GRCm38)	V271A	probably damaging	Het
Pdzrn4	A	T	15: 92,757,681 (GRCm38)	E485V	probably damaging	Het
Psg21	A	G	7: 18,652,345 (GRCm38)	Y239H	probably damaging	Het
Raet1d	T	A	10: 22,370,950 (GRCm38)	I59N	probably damaging	Het
Rfx1	T	C	8: 84,093,018 (GRCm38)	L653P	probably damaging	Het
Rnase2a	A	G	14: 51,255,674 (GRCm38)	V78A	possibly damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Homo
Serbp1	T	C	6: 67,272,867 (GRCm38)		probably benign	Het
Tlr1	A	T	5: 64,925,286 (GRCm38)	H649Q	probably damaging	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Trpc6	T	A	9: 8,656,730 (GRCm38)	D719E	probably benign	Het
Ttc21b	A	T	2: 66,236,354 (GRCm38)	S318R	probably benign	Het
Ttn	G	A	2: 76,749,329 (GRCm38)	T23740M	probably damaging	Het
Uhmk1	T	C	1: 170,212,237 (GRCm38)	Q187R	probably damaging	Het
Ung	C	T	5: 114,131,377 (GRCm38)	A50V	probably benign	Het
Upk3bl	C	T	5: 136,059,820 (GRCm38)	Q103*	probably null	Het
Usp17le	C	A	7: 104,769,143 (GRCm38)	C264F	probably damaging	Het
Vmn2r105	T	A	17: 20,228,496 (GRCm38)	N140Y	probably damaging	Het
Vmn2r84	C	T	10: 130,386,245 (GRCm38)	C702Y	probably damaging	Het
Zfp709	TCGACG	TCG	8: 71,890,708 (GRCm38)		probably benign	Het
Zfp748	G	A	13: 67,540,804 (GRCm38)	P779L	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
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
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
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'- GCATCCTGTGAGCAGTTTTG -3'
(R):5'- TGCCTAGTTTGGAAACCCAAG -3'

Sequencing Primer
(F):5'- CCTGTGAGCAGTTTTGAAGGATTAAG -3'
(R):5'- GTTACCCGGAAGTACAGTGTACACTC -3'

Posted On

2018-02-27