Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02871:Ptprs'

362560

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 #

IGL02871

Quality Score

Status

Chromosome

Chromosomal Location

56719426-56783480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56754443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 199 (E199G)

Ref Sequence

ENSEMBL: ENSMUSP00000153134 (fasta)

Gene Model

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

AlphaFold

B0V2N1

Predicted Effect

probably damaging
Transcript: ENSMUST00000067538
AA Change: E199G

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

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: E199G

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: E199G

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

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: E199G

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 damaging
Transcript: ENSMUST00000223859
AA Change: E199G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224006

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	C	A	13: 114,291,374 (GRCm39)	H179Q	probably benign	Het
Bin3	T	A	14: 70,366,354 (GRCm39)	C72*	probably null	Het
Brca2	C	T	5: 150,466,017 (GRCm39)	T1927I	probably benign	Het
Cap2	A	G	13: 46,678,968 (GRCm39)	D26G	probably benign	Het
Casz1	T	G	4: 149,028,776 (GRCm39)	S1074A	possibly damaging	Het
Chd5	C	T	4: 152,461,142 (GRCm39)	P1244L	probably damaging	Het
Exosc9	A	G	3: 36,619,430 (GRCm39)	N408S	probably benign	Het
Ezr	G	A	17: 7,009,789 (GRCm39)	Q352*	probably null	Het
Fbxl4	T	A	4: 22,386,213 (GRCm39)	D273E	probably benign	Het
Gm3269	A	T	14: 16,028,154 (GRCm39)	N193I	probably damaging	Het
Haus8	A	T	8: 71,709,138 (GRCm39)	M90K	probably benign	Het
Igkv5-39	A	T	6: 69,877,490 (GRCm39)	S89T	probably benign	Het
Nlrp4b	A	C	7: 10,449,192 (GRCm39)	D465A	probably benign	Het
Nsf	A	G	11: 103,752,882 (GRCm39)		probably benign	Het
Nt5c1b	G	A	12: 10,431,325 (GRCm39)	M409I	probably damaging	Het
Or4a75	T	C	2: 89,448,504 (GRCm39)	I11V	probably benign	Het
Or4c103	T	A	2: 88,513,428 (GRCm39)	Y216F	probably damaging	Het
Or5ac17	T	A	16: 59,036,737 (GRCm39)	K80*	probably null	Het
Pga5	T	C	19: 10,649,144 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,472,153 (GRCm39)	I355K	probably damaging	Het
Prom1	T	C	5: 44,187,018 (GRCm39)	Y404C	probably damaging	Het
Sec24c	T	C	14: 20,742,950 (GRCm39)	S935P	probably benign	Het
Slc22a13	T	C	9: 119,025,077 (GRCm39)	T200A	probably benign	Het
Svep1	T	A	4: 58,100,871 (GRCm39)	I1264L	probably benign	Het
Tcf7l2	T	A	19: 55,907,429 (GRCm39)	C349S	probably damaging	Het
Thbs2	T	C	17: 14,906,048 (GRCm39)	H284R	probably benign	Het
Vmn2r19	C	T	6: 123,313,042 (GRCm39)	S704L	probably damaging	Het
Vmn2r50	A	G	7: 9,781,714 (GRCm39)	Y344H	possibly 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
IGL01781:Ptprs	APN	17	56,742,676 (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
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

2015-12-18