Mutagenetix > Incidental Mutations

Incidental Mutation 'RF014:Ptprs'

603444

Institutional Source

Beutler Lab

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 #

RF014 (G1)

Quality Score

120.008

Status

Validated

Chromosome

Chromosomal Location

56412426-56476483 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56416935 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1686 (I1686N)

Ref Sequence

ENSEMBL: ENSMUSP00000064048 (fasta)

Gene Model

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

PDB Structure

Crystal structure of mouse PTPsigma [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000067538
AA Change: I1686N

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

SMART Domains

Protein: ENSMUSP00000064048
Gene: ENSMUSG00000013236
AA Change: I1686N

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: I1280N

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

SMART Domains

Protein: ENSMUSP00000084038
Gene: ENSMUSG00000013236
AA Change: I1280N

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

probably damaging
Transcript: ENSMUST00000223859
AA Change: I1276N

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,857		probably benign	Het
9530003J23Rik	A	G	10: 117,234,417	*152Q	probably null	Het
A2ml1	T	C	6: 128,570,068	N366S	probably damaging	Het
Abca5	T	C	11: 110,279,754		probably null	Het
Acaca	T	C	11: 84,231,724	V323A	probably benign	Het
Agbl3	T	A	6: 34,799,358	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,370,768	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,453,154	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 109,033,422		probably benign	Het
Best3	A	T	10: 117,004,505	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,141,265		probably benign	Het
Ccdc186	A	G	19: 56,813,472	L71S	probably benign	Het
Ces1d	C	A	8: 93,176,165		probably null	Het
Chga	AGC	AGCGGC	12: 102,561,393		probably benign	Het
Chga	AGC	AGCTGC	12: 102,561,405		probably benign	Het
Clstn3	T	A	6: 124,459,266	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 130,093,067		probably benign	Het
Cpxm2	G	T	7: 132,070,863	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dst	T	C	1: 34,247,679	S3364P	probably benign	Het
Edc4	C	T	8: 105,884,600	T61M	probably benign	Het
Fndc5	A	G	4: 129,142,167	H199R	probably benign	Het
Gm43302	T	A	5: 105,274,757	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,835,286		probably benign	Het
Irf9	C	T	14: 55,605,877	R179*	probably null	Het
Jakmip1	A	T	5: 37,174,526	K850M	possibly damaging	Het
Kalrn	G	A	16: 34,039,933	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,042,251		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 95,940,657		probably benign	Het
Lctl	A	G	9: 64,118,930	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,718,553		probably benign	Het
Luzp2	A	T	7: 55,172,205	I157F	probably damaging	Het
Mamld1	GCA	GCACCA	X: 71,118,845		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,306,295		probably benign	Het
Mbd3l1	A	T	9: 18,485,000	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,268,029	Q461L	probably benign	Het
Mto1	G	T	9: 78,448,316	R7L	probably benign	Het
Muc4	A	T	16: 32,751,858	S579C	probably damaging	Het
Ngfr	T	C	11: 95,578,201	Y117C	probably damaging	Het
Olfr432	A	T	1: 174,050,987	I205F	possibly damaging	Het
Olfr537-ps1	A	T	7: 140,538,777	M87L	probably benign	Het
Olfr926	C	A	9: 38,877,900	H241Q	probably benign	Het
Plch2	A	G	4: 155,007,120	S179P	probably damaging	Het
Pogz	T	G	3: 94,878,247	S838A	possibly damaging	Het
Pot1b	T	A	17: 55,674,106	T303S	probably benign	Het
Pou2f2	T	A	7: 25,115,737	I72L	unknown	Het
Ppil2	C	T	16: 17,097,418	V109M	probably damaging	Het
Ptpn4	A	G	1: 119,684,465		probably null	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,858,489		probably benign	Het
Rnf14	T	A	18: 38,309,570	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,346		probably benign	Het
Sgo2b	T	C	8: 63,931,405	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,621,356		probably benign	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Stox1	T	A	10: 62,664,246	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,665		probably benign	Het
Thegl	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,016,400		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,801,283		probably benign	Het
Trim33	T	C	3: 103,329,092	V506A	possibly damaging	Het
Uckl1	T	C	2: 181,570,194	D373G	probably benign	Het
Vmn2r94	G	T	17: 18,253,287	C492*	probably null	Het
Wdr33	A	G	18: 31,881,273	D396G	probably damaging	Het
Zbtb11	A	T	16: 55,980,597	I105L	probably damaging	Het
Zbtb40	A	T	4: 137,017,306	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,109,744	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,036,466		probably benign	Het
Zfp72	A	G	13: 74,375,054	F15S	probably benign	Het
Znrd1as	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 36,965,060		probably benign	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
IGL02736:Ptprs	APN	17	56458248	missense	possibly damaging	0.88
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	splice site	probably null
R0240:Ptprs	UTSW	17	56436087	splice site	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
R7851:Ptprs	UTSW	17	56425482	missense	probably benign
R7903:Ptprs	UTSW	17	56424960	nonsense	probably null
R8013:Ptprs	UTSW	17	56435994	missense	probably damaging	1.00
R8014:Ptprs	UTSW	17	56435994	missense	probably damaging	1.00
R8094:Ptprs	UTSW	17	56428947	missense	probably benign	0.01
R8112:Ptprs	UTSW	17	56434532	nonsense	probably null
R8181:Ptprs	UTSW	17	56429064	missense	probably damaging	1.00
R8511:Ptprs	UTSW	17	56447440	missense	probably damaging	1.00
X0028:Ptprs	UTSW	17	56437831	missense	probably damaging	1.00
Z1176:Ptprs	UTSW	17	56417050	missense	possibly damaging	0.82
Z1176:Ptprs	UTSW	17	56422211	nonsense	probably null
Z1176:Ptprs	UTSW	17	56434468	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGGCTAGCTTACTCAAAACCTAATC -3'
(R):5'- GATTTTGTTGCACTGGCCCC -3'

Sequencing Primer
(F):5'- TGGGGTCTATCCACAGGAC -3'
(R):5'- GCCCCAGCCTCTTTGCC -3'

Posted On

2019-12-04