Mutagenetix > Incidental Mutation

Incidental Mutation 'R3619:Ptprt'

268546

Institutional Source

Beutler Lab

Gene Symbol

Ptprt

Ensembl Gene

ENSMUSG00000053141

Gene Name

protein tyrosine phosphatase, receptor type, T

Synonyms

RPTPrho

MMRRC Submission

040676-MU

Accession Numbers

Essential gene?

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

Stock #

R3619 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

161521990-162661147 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 161566157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 945 (Y945C)

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: Y945C

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

SMART Domains

Protein: ENSMUSP00000105067
Gene: ENSMUSG00000053141
AA Change: Y945C

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: Y964C

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

SMART Domains

Protein: ENSMUSP00000105068
Gene: ENSMUSG00000053141
AA Change: Y964C

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: Y955C

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

SMART Domains

Protein: ENSMUSP00000105069
Gene: ENSMUSG00000053141
AA Change: Y955C

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: Y945C

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

SMART Domains

Protein: ENSMUSP00000105071
Gene: ENSMUSG00000053141
AA Change: Y945C

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: 99.1%
3x: 98.5%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc82	T	A	9: 13,252,306 (GRCm38)	D74E	probably benign	Het
Chmp3	T	A	6: 71,577,825 (GRCm38)	I168N	probably damaging	Het
Dazap1	T	C	10: 80,285,360 (GRCm38)		probably benign	Het
Dpp6	T	C	5: 27,721,120 (GRCm38)	S673P	possibly damaging	Het
Enpep	G	C	3: 129,284,158 (GRCm38)	S603R	possibly damaging	Het
Fgf11	T	C	11: 69,799,408 (GRCm38)	S118G	probably benign	Het
Foxi3	T	C	6: 70,957,063 (GRCm38)	L178P	probably damaging	Het
Gbx1	G	T	5: 24,526,113 (GRCm38)	P235Q	probably benign	Het
Gm8267	A	T	14: 44,724,056 (GRCm38)	M60K	possibly damaging	Het
Gnmt	G	A	17: 46,729,037 (GRCm38)	R39C	possibly damaging	Het
Hnrnpab	T	C	11: 51,602,611 (GRCm38)	N257D	possibly damaging	Het
Klhl31	G	T	9: 77,655,476 (GRCm38)	A508S	probably benign	Het
Lrif1	A	G	3: 106,732,546 (GRCm38)	K316E	probably damaging	Het
Magi3	A	T	3: 104,054,405 (GRCm38)	F436I	probably damaging	Het
Mef2a	G	A	7: 67,268,327 (GRCm38)	S111L	probably benign	Het
Micu1	T	C	10: 59,768,258 (GRCm38)		probably null	Het
Mpst	A	G	15: 78,410,122 (GRCm38)	E18G	probably damaging	Het
Npepps	G	T	11: 97,248,265 (GRCm38)	F160L	possibly damaging	Het
Olfr118	T	A	17: 37,672,640 (GRCm38)	F206I	probably benign	Het
Olfr510	A	T	7: 108,667,850 (GRCm38)	I145F	probably benign	Het
Orc6	T	C	8: 85,299,994 (GRCm38)		probably null	Het
Palm3	T	A	8: 84,029,344 (GRCm38)	V495E	probably benign	Het
Pam	A	G	1: 97,834,432 (GRCm38)	F809L	probably damaging	Het
Pcdh15	T	C	10: 74,643,395 (GRCm38)	V708A	probably benign	Het
Pcdha12	G	A	18: 37,020,704 (GRCm38)	D159N	probably damaging	Het
Plxna1	C	A	6: 89,357,453 (GRCm38)	A65S	probably damaging	Het
Pym1	T	G	10: 128,765,204 (GRCm38)	V31G	probably damaging	Het
Stard9	C	T	2: 120,699,019 (GRCm38)	T1919I	possibly damaging	Het
Tas1r3	C	T	4: 155,860,953 (GRCm38)	V604I	probably damaging	Het
Ttc27	G	A	17: 74,751,128 (GRCm38)		probably null	Het
Wfdc6b	A	T	2: 164,614,906 (GRCm38)	Y46F	probably benign	Het
Zbtb48	A	T	4: 152,026,027 (GRCm38)		probably null	Het
Zfp385b	G	A	2: 77,415,889 (GRCm38)	P177S	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
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'- GCCACTAGTGTAGAAAGACTTTGG -3'
(R):5'- TATGGCAAACCTGTATGGGCC -3'

Sequencing Primer
(F):5'- TAGTGTAGAAAGACTTTGGTGAAAAC -3'
(R):5'- AACCTGTATGGGCCCCTCATAG -3'

Posted On

2015-02-19