Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02736:Ptprs'

305660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprs

Ensembl Gene

ENSMUSG00000013236

Gene Name

protein tyrosine phosphatase, receptor type, S

Synonyms

Ptpt9, PTP-NU3, RPTPsigma, PTPsigma

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

56412426-56476483 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56458248 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 12 (V12E)

Ref Sequence

ENSEMBL: ENSMUSP00000153134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223742] [ENSMUST00000223859]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067538
AA Change: V12E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: V12E

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
IGc2	45	114	3.38e-10	SMART
IGc2	147	214	2.4e-15	SMART
IGc2	244	305	8.26e-5	SMART
FN3	319	398	2.8e-14	SMART
FN3	414	497	3.24e-10	SMART
FN3	512	590	3.17e-13	SMART
FN3	605	692	9.69e-9	SMART
FN3	707	796	2.42e-9	SMART
FN3	811	890	2.22e0	SMART
FN3	905	995	8.31e-8	SMART
FN3	1009	1085	3.22e-5	SMART
low complexity region	1164	1177	N/A	INTRINSIC
transmembrane domain	1259	1281	N/A	INTRINSIC
PTPc	1351	1609	1.54e-136	SMART
PTPc	1638	1900	3.12e-128	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086828
AA Change: V12E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: V12E

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
IGc2	45	114	3.38e-10	SMART
IGc2	147	214	2.4e-15	SMART
IGc2	244	305	8.26e-5	SMART
FN3	319	398	2.8e-14	SMART
FN3	414	497	3.24e-10	SMART
FN3	512	590	3.17e-13	SMART
FN3	603	679	2.54e-3	SMART
low complexity region	758	771	N/A	INTRINSIC
transmembrane domain	853	875	N/A	INTRINSIC
PTPc	945	1203	1.54e-136	SMART
PTPc	1232	1494	3.12e-128	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143018

Predicted Effect

probably benign
Transcript: ENSMUST00000223742
AA Change: V12E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223859
AA Change: V12E

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225381

Coding Region Coverage

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 contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of multiple Ig-like and fibronectin type III-like domains. Studies of the similar gene in mice suggested that this PTP may be involved in cell-cell interaction, primary axonogenesis, and axon guidance during embryogenesis. This PTP has been also implicated in the molecular control of adult nerve repair. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Almost half of null homozygotes die in the first day of life. Embryos are characterized by decreased brain size including small pituitary glands and small olfactory bulbs. Adult mice are small, lack estrus, have decreased litter sizes and have impairedolfaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	C	1: 37,637,873	E76G	probably damaging	Het
9430007A20Rik	G	A	4: 144,528,637	R209K	probably benign	Het
A830018L16Rik	G	A	1: 11,972,051	A416T	probably benign	Het
Akap12	A	G	10: 4,355,637	I816V	probably benign	Het
Antxrl	A	G	14: 34,056,618		probably benign	Het
Atp1a3	G	A	7: 24,980,109	T920I	probably damaging	Het
Cd22	C	T	7: 30,878,045		probably null	Het
Cntn3	T	A	6: 102,203,939	N765I	probably damaging	Het
Crebbp	G	A	16: 4,154,910	P307S	probably benign	Het
Dapk2	T	A	9: 66,268,916	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952	T127S	probably benign	Het
Dnmbp	A	T	19: 43,849,770		probably benign	Het
Erbin	A	G	13: 103,839,395	S664P	probably damaging	Het
Hectd4	G	T	5: 121,342,719	C2941F	possibly damaging	Het
Ighv1-4	A	G	12: 114,487,252	Y79H	probably benign	Het
Matn3	T	A	12: 8,955,422	D277E	possibly damaging	Het
Mgarp	C	A	3: 51,396,445	A36S	possibly damaging	Het
Mycbp2	A	G	14: 103,114,242		probably benign	Het
Nynrin	G	A	14: 55,870,909	A1158T	probably damaging	Het
Olfr427	T	G	1: 174,099,647	I63S	probably damaging	Het
Olfr729	G	A	14: 50,148,424	A150V	probably benign	Het
Palm2	C	A	4: 57,709,721	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,040,666	D1295G	probably benign	Het
Ppig	A	G	2: 69,736,094	I171M	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,263,591	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,428,311	V157A	possibly damaging	Het
Sox6	A	C	7: 115,580,640	D302E	probably damaging	Het
Spata3	T	C	1: 86,024,435	V136A	probably damaging	Het
St6galnac6	G	A	2: 32,614,971	R129H	probably benign	Het
Tmem184c	A	T	8: 77,597,846	D338E	probably damaging	Het
Tmem67	A	G	4: 12,045,789		probably null	Het
Ttn	A	T	2: 76,878,270		probably benign	Het
Usp16	T	C	16: 87,464,835	V113A	possibly damaging	Het
Utrn	A	G	10: 12,421,640	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,417,383	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,791,974	M694L	probably benign	Het
Zfp345	A	T	2: 150,474,554	Y45N	probably damaging	Het

Other mutations in Ptprs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ptprs	APN	17	56458243	missense	probably damaging	0.99
IGL01388:Ptprs	APN	17	56421261	missense	probably damaging	1.00
IGL01568:Ptprs	APN	17	56413958	missense	probably damaging	1.00
IGL01781:Ptprs	APN	17	56435676	missense	probably damaging	1.00
IGL02499:Ptprs	APN	17	56437884	missense	probably damaging	1.00
IGL02576:Ptprs	APN	17	56414958	missense	probably damaging	1.00
IGL02871:Ptprs	APN	17	56447443	missense	probably damaging	1.00
IGL02946:Ptprs	APN	17	56424032	missense	probably benign
IGL03061:Ptprs	APN	17	56418830	missense	probably damaging	0.96
IGL03347:Ptprs	APN	17	56435972	missense	probably benign	0.07
IGL03351:Ptprs	APN	17	56437943	missense	probably damaging	1.00
P0019:Ptprs	UTSW	17	56447474	splice site	probably benign
PIT4434001:Ptprs	UTSW	17	56454984	missense	probably null	0.02
PIT4520001:Ptprs	UTSW	17	56414980	missense	probably damaging	1.00
R0240:Ptprs	UTSW	17	56436087	unclassified	probably null
R0240:Ptprs	UTSW	17	56436087	unclassified	probably null
R0504:Ptprs	UTSW	17	56454220	missense	possibly damaging	0.60
R0518:Ptprs	UTSW	17	56419621	critical splice donor site	probably null
R0539:Ptprs	UTSW	17	56458255	missense	probably damaging	0.97
R0620:Ptprs	UTSW	17	56429103	missense	possibly damaging	0.93
R0683:Ptprs	UTSW	17	56414086	missense	probably damaging	1.00
R1147:Ptprs	UTSW	17	56423504	missense	probably damaging	1.00
R1147:Ptprs	UTSW	17	56423504	missense	probably damaging	1.00
R1474:Ptprs	UTSW	17	56424128	missense	probably damaging	0.98
R1502:Ptprs	UTSW	17	56437992	missense	probably benign	0.00
R1817:Ptprs	UTSW	17	56419527	missense	probably damaging	1.00
R1844:Ptprs	UTSW	17	56434510	missense	probably damaging	1.00
R2077:Ptprs	UTSW	17	56434990	missense	probably null	0.26
R2086:Ptprs	UTSW	17	56454984	missense	probably null	0.02
R2149:Ptprs	UTSW	17	56417706	missense	probably damaging	1.00
R3618:Ptprs	UTSW	17	56428965	missense	probably benign	0.25
R3722:Ptprs	UTSW	17	56417485	missense	probably damaging	1.00
R3771:Ptprs	UTSW	17	56428978	missense	possibly damaging	0.58
R3772:Ptprs	UTSW	17	56428978	missense	possibly damaging	0.58
R3773:Ptprs	UTSW	17	56428978	missense	possibly damaging	0.58
R4032:Ptprs	UTSW	17	56413386	missense	probably damaging	1.00
R4326:Ptprs	UTSW	17	56447468	missense	possibly damaging	0.83
R4327:Ptprs	UTSW	17	56447468	missense	possibly damaging	0.83
R4480:Ptprs	UTSW	17	56426404	missense	possibly damaging	0.79
R4505:Ptprs	UTSW	17	56451678	missense	possibly damaging	0.57
R4507:Ptprs	UTSW	17	56419014	missense	probably damaging	1.00
R4588:Ptprs	UTSW	17	56425534	missense	probably damaging	1.00
R4662:Ptprs	UTSW	17	56417666	missense	probably damaging	1.00
R4708:Ptprs	UTSW	17	56428067	missense	probably damaging	1.00
R5016:Ptprs	UTSW	17	56419070	missense	probably damaging	1.00
R5416:Ptprs	UTSW	17	56435724	missense	probably damaging	1.00
R5447:Ptprs	UTSW	17	56429128	missense	possibly damaging	0.50
R6041:Ptprs	UTSW	17	56419080	missense	probably benign	0.00
R6329:Ptprs	UTSW	17	56417427	nonsense	probably null
R6377:Ptprs	UTSW	17	56418935	missense	probably damaging	1.00
R6605:Ptprs	UTSW	17	56422195	missense	probably damaging	1.00
R6749:Ptprs	UTSW	17	56437884	missense	probably damaging	1.00
R7113:Ptprs	UTSW	17	56451697	missense	probably benign	0.40
R7114:Ptprs	UTSW	17	56451697	missense	probably benign	0.40
R7133:Ptprs	UTSW	17	56417429	missense	probably damaging	1.00
R7220:Ptprs	UTSW	17	56418988	missense	probably benign	0.29
R7423:Ptprs	UTSW	17	56414793	missense	probably damaging	1.00
R7440:Ptprs	UTSW	17	56424256	missense	possibly damaging	0.75
R7457:Ptprs	UTSW	17	56419502	missense	probably damaging	0.99
R7574:Ptprs	UTSW	17	56423538	missense	probably benign	0.00
RF014:Ptprs	UTSW	17	56416935	missense	probably damaging	1.00
X0028:Ptprs	UTSW	17	56437831	missense	probably damaging	1.00

Posted On

2015-04-16