Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01781:Ptprs'

153936

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptprs

Ensembl Gene

ENSMUSG00000013236

Gene Name

protein tyrosine phosphatase receptor type S

Synonyms

Ptpt9, PTPsigma, PTP-NU3, RPTPsigma

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01781

Quality Score

Status

Chromosome

Chromosomal Location

56719426-56783480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56742676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 489 (L489F)

Ref Sequence

ENSEMBL: ENSMUSP00000153134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067538] [ENSMUST00000086828] [ENSMUST00000223642] [ENSMUST00000223859] [ENSMUST00000225456]

AlphaFold

B0V2N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067538
AA Change: L489F

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

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: L489F

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

probably damaging
Transcript: ENSMUST00000086828
AA Change: L489F

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

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: L489F

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: ENSMUST00000223642

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223691

Predicted Effect

probably damaging
Transcript: ENSMUST00000223859
AA Change: L489F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225785

Predicted Effect

probably benign
Transcript: ENSMUST00000225456

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,280 (GRCm39)	I3618N	probably damaging	Het
Acss1	A	G	2: 150,479,792 (GRCm39)	L305P	probably damaging	Het
Alox12e	A	T	11: 70,212,282 (GRCm39)	L132Q	probably damaging	Het
Atp6v0a4	T	C	6: 38,051,095 (GRCm39)	N428D	possibly damaging	Het
Ccdc80	C	T	16: 44,946,493 (GRCm39)	H811Y	probably damaging	Het
Cgn	T	C	3: 94,680,515 (GRCm39)	M596V	probably benign	Het
Cpn1	T	A	19: 43,954,657 (GRCm39)	E323V	possibly damaging	Het
Cul9	A	G	17: 46,850,230 (GRCm39)	S447P	probably benign	Het
Cyp2f2	A	T	7: 26,829,846 (GRCm39)	Y182F	probably benign	Het
Dnajc13	T	C	9: 104,039,558 (GRCm39)	M2104V	possibly damaging	Het
Eri3	T	C	4: 117,421,874 (GRCm39)	F51L	probably benign	Het
Fgd5	A	G	6: 91,965,698 (GRCm39)	S486G	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Ifna4	T	C	4: 88,760,389 (GRCm39)	S98P	probably damaging	Het
Impg2	A	G	16: 56,072,588 (GRCm39)	K340R	probably benign	Het
Man2b2	T	C	5: 36,971,089 (GRCm39)	N759S	possibly damaging	Het
Mfsd1	A	G	3: 67,495,244 (GRCm39)		probably benign	Het
Or2d36	T	A	7: 106,746,903 (GRCm39)	C127S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,566 (GRCm39)	N139K	probably damaging	Het
Peak1	A	T	9: 56,167,349 (GRCm39)	I193N	possibly damaging	Het
Pip4p2	T	C	4: 14,893,566 (GRCm39)	L143S	probably damaging	Het
Pramel28	C	A	4: 143,692,299 (GRCm39)	C234F	probably benign	Het
Psg27	T	A	7: 18,298,989 (GRCm39)	T111S	probably damaging	Het
Rpgrip1l	A	G	8: 91,996,846 (GRCm39)	V76A	probably benign	Het
Scd1	A	T	19: 44,388,787 (GRCm39)	M221K	possibly damaging	Het
Slc38a7	A	G	8: 96,570,386 (GRCm39)		probably null	Het
Spon2	T	C	5: 33,372,904 (GRCm39)	D266G	probably benign	Het
Spry4	C	T	18: 38,723,478 (GRCm39)	G95D	probably damaging	Het
Supt20	A	G	3: 54,602,626 (GRCm39)	M1V	probably null	Het
Trappc11	A	C	8: 47,967,163 (GRCm39)	F404V	possibly damaging	Het
Vmn1r178	C	A	7: 23,593,434 (GRCm39)	Q161K	probably damaging	Het
Vmn2r25	T	C	6: 123,816,324 (GRCm39)	E419G	possibly damaging	Het
Vstm5	A	G	9: 15,168,968 (GRCm39)	H146R	probably damaging	Het

Other mutations in Ptprs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Ptprs	APN	17	56,765,243 (GRCm39)	missense	probably damaging	0.99
IGL01388:Ptprs	APN	17	56,728,261 (GRCm39)	missense	probably damaging	1.00
IGL01568:Ptprs	APN	17	56,720,958 (GRCm39)	missense	probably damaging	1.00
IGL02499:Ptprs	APN	17	56,744,884 (GRCm39)	missense	probably damaging	1.00
IGL02576:Ptprs	APN	17	56,721,958 (GRCm39)	missense	probably damaging	1.00
IGL02736:Ptprs	APN	17	56,765,248 (GRCm39)	missense	possibly damaging	0.88
IGL02871:Ptprs	APN	17	56,754,443 (GRCm39)	missense	probably damaging	1.00
IGL02946:Ptprs	APN	17	56,731,032 (GRCm39)	missense	probably benign
IGL03061:Ptprs	APN	17	56,725,830 (GRCm39)	missense	probably damaging	0.96
IGL03347:Ptprs	APN	17	56,742,972 (GRCm39)	missense	probably benign	0.07
IGL03351:Ptprs	APN	17	56,744,943 (GRCm39)	missense	probably damaging	1.00
P0019:Ptprs	UTSW	17	56,754,474 (GRCm39)	splice site	probably benign
PIT4434001:Ptprs	UTSW	17	56,761,984 (GRCm39)	missense	probably null	0.02
PIT4520001:Ptprs	UTSW	17	56,721,980 (GRCm39)	missense	probably damaging	1.00
R0240:Ptprs	UTSW	17	56,743,087 (GRCm39)	splice site	probably null
R0240:Ptprs	UTSW	17	56,743,087 (GRCm39)	splice site	probably null
R0504:Ptprs	UTSW	17	56,761,220 (GRCm39)	missense	possibly damaging	0.60
R0518:Ptprs	UTSW	17	56,726,621 (GRCm39)	critical splice donor site	probably null
R0539:Ptprs	UTSW	17	56,765,255 (GRCm39)	missense	probably damaging	0.97
R0620:Ptprs	UTSW	17	56,736,103 (GRCm39)	missense	possibly damaging	0.93
R0683:Ptprs	UTSW	17	56,721,086 (GRCm39)	missense	probably damaging	1.00
R1147:Ptprs	UTSW	17	56,730,504 (GRCm39)	missense	probably damaging	1.00
R1147:Ptprs	UTSW	17	56,730,504 (GRCm39)	missense	probably damaging	1.00
R1474:Ptprs	UTSW	17	56,731,128 (GRCm39)	missense	probably damaging	0.98
R1502:Ptprs	UTSW	17	56,744,992 (GRCm39)	missense	probably benign	0.00
R1817:Ptprs	UTSW	17	56,726,527 (GRCm39)	missense	probably damaging	1.00
R1844:Ptprs	UTSW	17	56,741,510 (GRCm39)	missense	probably damaging	1.00
R2077:Ptprs	UTSW	17	56,741,990 (GRCm39)	missense	probably null	0.26
R2086:Ptprs	UTSW	17	56,761,984 (GRCm39)	missense	probably null	0.02
R2149:Ptprs	UTSW	17	56,724,706 (GRCm39)	missense	probably damaging	1.00
R3618:Ptprs	UTSW	17	56,735,965 (GRCm39)	missense	probably benign	0.25
R3722:Ptprs	UTSW	17	56,724,485 (GRCm39)	missense	probably damaging	1.00
R3771:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R3772:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R3773:Ptprs	UTSW	17	56,735,978 (GRCm39)	missense	possibly damaging	0.58
R4032:Ptprs	UTSW	17	56,720,386 (GRCm39)	missense	probably damaging	1.00
R4326:Ptprs	UTSW	17	56,754,468 (GRCm39)	missense	possibly damaging	0.83
R4327:Ptprs	UTSW	17	56,754,468 (GRCm39)	missense	possibly damaging	0.83
R4480:Ptprs	UTSW	17	56,733,404 (GRCm39)	missense	possibly damaging	0.79
R4505:Ptprs	UTSW	17	56,758,678 (GRCm39)	missense	possibly damaging	0.57
R4507:Ptprs	UTSW	17	56,726,014 (GRCm39)	missense	probably damaging	1.00
R4588:Ptprs	UTSW	17	56,732,534 (GRCm39)	missense	probably damaging	1.00
R4662:Ptprs	UTSW	17	56,724,666 (GRCm39)	missense	probably damaging	1.00
R4708:Ptprs	UTSW	17	56,735,067 (GRCm39)	missense	probably damaging	1.00
R5016:Ptprs	UTSW	17	56,726,070 (GRCm39)	missense	probably damaging	1.00
R5416:Ptprs	UTSW	17	56,742,724 (GRCm39)	missense	probably damaging	1.00
R5447:Ptprs	UTSW	17	56,736,128 (GRCm39)	missense	possibly damaging	0.50
R6041:Ptprs	UTSW	17	56,726,080 (GRCm39)	missense	probably benign	0.00
R6329:Ptprs	UTSW	17	56,724,427 (GRCm39)	nonsense	probably null
R6377:Ptprs	UTSW	17	56,725,935 (GRCm39)	missense	probably damaging	1.00
R6605:Ptprs	UTSW	17	56,729,195 (GRCm39)	missense	probably damaging	1.00
R6749:Ptprs	UTSW	17	56,744,884 (GRCm39)	missense	probably damaging	1.00
R7113:Ptprs	UTSW	17	56,758,697 (GRCm39)	missense	probably benign	0.40
R7114:Ptprs	UTSW	17	56,758,697 (GRCm39)	missense	probably benign	0.40
R7133:Ptprs	UTSW	17	56,724,429 (GRCm39)	missense	probably damaging	1.00
R7220:Ptprs	UTSW	17	56,725,988 (GRCm39)	missense	probably benign	0.29
R7423:Ptprs	UTSW	17	56,721,793 (GRCm39)	missense	probably damaging	1.00
R7440:Ptprs	UTSW	17	56,731,256 (GRCm39)	missense	possibly damaging	0.75
R7457:Ptprs	UTSW	17	56,726,502 (GRCm39)	missense	probably damaging	0.99
R7574:Ptprs	UTSW	17	56,730,538 (GRCm39)	missense	probably benign	0.00
R7851:Ptprs	UTSW	17	56,732,482 (GRCm39)	missense	probably benign
R7903:Ptprs	UTSW	17	56,731,960 (GRCm39)	nonsense	probably null
R8013:Ptprs	UTSW	17	56,742,994 (GRCm39)	missense	probably damaging	1.00
R8014:Ptprs	UTSW	17	56,742,994 (GRCm39)	missense	probably damaging	1.00
R8094:Ptprs	UTSW	17	56,735,947 (GRCm39)	missense	probably benign	0.01
R8112:Ptprs	UTSW	17	56,741,532 (GRCm39)	nonsense	probably null
R8181:Ptprs	UTSW	17	56,736,064 (GRCm39)	missense	probably damaging	1.00
R8511:Ptprs	UTSW	17	56,754,440 (GRCm39)	missense	probably damaging	1.00
R8682:Ptprs	UTSW	17	56,742,849 (GRCm39)	missense	probably damaging	0.98
R8875:Ptprs	UTSW	17	56,742,946 (GRCm39)	missense	probably damaging	1.00
R8911:Ptprs	UTSW	17	56,730,320 (GRCm39)	missense	probably benign	0.07
R8970:Ptprs	UTSW	17	56,730,353 (GRCm39)	missense	possibly damaging	0.94
R9117:Ptprs	UTSW	17	56,742,853 (GRCm39)	missense	possibly damaging	0.84
R9297:Ptprs	UTSW	17	56,765,257 (GRCm39)	missense	probably damaging	0.96
R9539:Ptprs	UTSW	17	56,725,715 (GRCm39)	missense	probably benign	0.09
R9803:Ptprs	UTSW	17	56,729,217 (GRCm39)	missense	probably damaging	1.00
RF014:Ptprs	UTSW	17	56,723,935 (GRCm39)	missense	probably damaging	1.00
X0028:Ptprs	UTSW	17	56,744,831 (GRCm39)	missense	probably damaging	1.00
Z1176:Ptprs	UTSW	17	56,741,468 (GRCm39)	missense	possibly damaging	0.66
Z1176:Ptprs	UTSW	17	56,729,211 (GRCm39)	nonsense	probably null
Z1176:Ptprs	UTSW	17	56,724,050 (GRCm39)	missense	possibly damaging	0.82

Posted On

2014-02-04