Mutagenetix > Incidental Mutation

Incidental Mutation 'R4032:Ptprs'

313560

Institutional Source

Beutler Lab

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 #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56719426-56783480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56720386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1478 (Y1478C)

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: Y1888C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: Y1888C

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: Y1482C

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

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: Y1482C

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: ENSMUST00000223685

Predicted Effect

probably damaging
Transcript: ENSMUST00000223859
AA Change: Y1478C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224522

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap17	G	T	7: 122,879,289 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,237,389 (GRCm39)	M846L	probably damaging	Het
Capn5	G	T	7: 97,778,453 (GRCm39)	Q389K	probably damaging	Het
Cdkl3	T	A	11: 51,902,118 (GRCm39)	I109N	probably damaging	Het
Cry2	T	C	2: 92,244,172 (GRCm39)	I334V	probably benign	Het
Cs	T	C	10: 128,196,913 (GRCm39)	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,346,355 (GRCm39)	S89P	probably benign	Het
Dync1h1	C	T	12: 110,584,483 (GRCm39)	Q629*	probably null	Het
H4c12	T	C	13: 21,934,588 (GRCm39)	I30V	possibly damaging	Het
Itpka	C	T	2: 119,573,082 (GRCm39)	P75S	probably benign	Het
Lyst	C	T	13: 13,791,250 (GRCm39)	H38Y	probably damaging	Het
Mansc4	T	C	6: 146,976,678 (GRCm39)	K313E	probably benign	Het
Megf6	T	A	4: 154,261,550 (GRCm39)	C58*	probably null	Het
Mtor	T	C	4: 148,621,209 (GRCm39)	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877 (GRCm38)		probably null	Het
Nfkb1	T	C	3: 135,300,110 (GRCm39)	S657G	possibly damaging	Het
Or10d5j	T	C	9: 39,867,629 (GRCm39)	T213A	probably benign	Het
Or2a25	A	T	6: 42,888,559 (GRCm39)	Y34F	probably benign	Het
Or4m1	T	A	14: 50,557,767 (GRCm39)	D175V	possibly damaging	Het
Or4n5	G	T	14: 50,132,433 (GRCm39)	H275Q	probably benign	Het
Or51f23	A	G	7: 102,453,396 (GRCm39)	K237R	probably benign	Het
Pabir1	C	T	19: 24,454,106 (GRCm39)	M205I	probably benign	Het
Pde1b	A	G	15: 103,429,753 (GRCm39)	D82G	probably damaging	Het
Pdzrn4	C	T	15: 92,667,414 (GRCm39)	T522M	probably damaging	Het
Ptpro	C	A	6: 137,438,740 (GRCm39)	N373K	probably damaging	Het
Sdc2	A	T	15: 33,017,323 (GRCm39)	I46F	probably damaging	Het
Sergef	C	A	7: 46,092,726 (GRCm39)	E428*	probably null	Het
Stk36	A	G	1: 74,665,207 (GRCm39)	S651G	probably benign	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt8a	C	A	3: 125,667,807 (GRCm39)	D345Y	probably damaging	Het
Usp44	A	G	10: 93,683,127 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,594,263 (GRCm39)	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,180,858 (GRCm39)	T239A	possibly damaging	Het
Zfp87	T	C	13: 74,520,449 (GRCm39)	T210A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAACCTCGTTTTGGAATCAGAAG -3'
(R):5'- AACTCAGGCTCTGGCAAAGG -3'

Sequencing Primer
(F):5'- CCTCGTTTTGGAATCAGAAGGGAATG -3'
(R):5'- TCACCCCTGCAGGTTTGG -3'

Posted On

2015-04-30