Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01510:Ptpn13'

89165

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpn13

Ensembl Gene

ENSMUSG00000034573

Gene Name

protein tyrosine phosphatase, non-receptor type 13

Synonyms

PTPL1, Ptpri, PTP-BL

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

IGL01510

Quality Score

Status

Chromosome

Chromosomal Location

103425192-103598303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103562300 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 1567 (T1567I)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048957]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048957
AA Change: T1567I

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

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: T1567I

Domain	Start	End	E-Value	Type
KIND	3	190	2.3e-80	SMART
Blast:B41	340	447	6e-34	BLAST
coiled coil region	460	487	N/A	INTRINSIC
B41	561	774	3.3e-68	SMART
FERM_C	780	869	3.2e-35	SMART
low complexity region	1049	1058	N/A	INTRINSIC
PDZ	1093	1170	7.6e-25	SMART
low complexity region	1224	1236	N/A	INTRINSIC
low complexity region	1309	1322	N/A	INTRINSIC
low complexity region	1331	1341	N/A	INTRINSIC
PDZ	1365	1442	1.7e-24	SMART
low complexity region	1450	1468	N/A	INTRINSIC
PDZ	1499	1579	3.5e-19	SMART
PDZ	1773	1845	1.2e-21	SMART
PDZ	1867	1942	1.6e-16	SMART
low complexity region	2123	2134	N/A	INTRINSIC
PTPc	2179	2436	6.9e-113	SMART

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 signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large intracellular protein. It has a catalytic PTP domain at its C-terminus and two major structural domains: a region with five PDZ domains and a FERM domain that binds to plasma membrane and cytoskeletal elements. This PTP was found to interact with, and dephosphorylate, Fas receptor and IkappaBalpha through the PDZ domains. This suggests it has a role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathways. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal T-helper cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,143,979 (GRCm38)	Q6R	probably damaging	Het
Adam5	A	T	8: 24,804,465 (GRCm38)	C373S	probably damaging	Het
Adgre4	T	C	17: 55,818,760 (GRCm38)		probably null	Het
Akap10	A	T	11: 61,878,020 (GRCm38)	M614K	possibly damaging	Het
Amigo2	T	C	15: 97,245,081 (GRCm38)	T487A	probably benign	Het
Asap1	T	C	15: 64,158,928 (GRCm38)	D300G	probably damaging	Het
Atp4a	C	A	7: 30,720,791 (GRCm38)	L788M	probably benign	Het
Bcl3	T	A	7: 19,809,614 (GRCm38)	H309L	probably damaging	Het
Cblc	T	C	7: 19,785,275 (GRCm38)	N376S	probably benign	Het
Cd200r2	A	T	16: 44,909,311 (GRCm38)	I110L	probably benign	Het
Ceacam3	T	C	7: 17,159,842 (GRCm38)	M426T	probably benign	Het
Cep295	G	A	9: 15,354,626 (GRCm38)	R29*	probably null	Het
Ces1a	G	T	8: 93,045,098 (GRCm38)	P24T	probably damaging	Het
Ctps	G	T	4: 120,558,844 (GRCm38)	T194K	probably damaging	Het
Cul3	A	G	1: 80,282,679 (GRCm38)	S318P	probably damaging	Het
Fasl	A	T	1: 161,781,953 (GRCm38)	S155T	possibly damaging	Het
Gldc	C	T	19: 30,113,721 (GRCm38)		probably null	Het
Gpr21	T	A	2: 37,518,421 (GRCm38)	C326*	probably null	Het
Gtf2a1	A	G	12: 91,567,833 (GRCm38)	S216P	probably benign	Het
Hoxb5	A	T	11: 96,303,992 (GRCm38)	S127C	possibly damaging	Het
Htt	A	T	5: 34,907,512 (GRCm38)	Q3023L	probably damaging	Het
Kalrn	T	A	16: 34,235,330 (GRCm38)	H855L	possibly damaging	Het
Lars	T	C	18: 42,242,109 (GRCm38)	I289V	probably benign	Het
Lrig3	C	A	10: 126,008,698 (GRCm38)	T677K	probably damaging	Het
Mapk7	A	T	11: 61,491,160 (GRCm38)	W309R	probably damaging	Het
Mmp12	A	G	9: 7,358,307 (GRCm38)	T468A	possibly damaging	Het
Muc5b	A	T	7: 141,859,061 (GRCm38)	N1915Y	unknown	Het
Naprt	A	G	15: 75,890,988 (GRCm38)		probably benign	Het
Nfatc1	T	C	18: 80,698,188 (GRCm38)	Y199C	probably damaging	Het
Olfr857	A	T	9: 19,713,279 (GRCm38)	I151F	probably benign	Het
Olfr919	T	C	9: 38,697,905 (GRCm38)	I158V	probably benign	Het
Phip	T	A	9: 82,913,871 (GRCm38)	I566F	probably benign	Het
Pnpla3	T	A	15: 84,171,072 (GRCm38)		probably benign	Het
Ptpn20	A	G	14: 33,638,386 (GRCm38)		probably null	Het
Ptprq	G	T	10: 107,712,048 (GRCm38)	T163K	probably damaging	Het
Slc8a1	A	G	17: 81,648,365 (GRCm38)	C415R	probably damaging	Het
Slco4c1	A	G	1: 96,867,953 (GRCm38)	S127P	probably damaging	Het
Tcerg1l	A	T	7: 138,394,305 (GRCm38)		probably benign	Het
Thbd	C	T	2: 148,406,974 (GRCm38)	V325M	probably damaging	Het
Trim37	G	A	11: 87,177,860 (GRCm38)	R344H	probably damaging	Het
Ttn	T	C	2: 76,872,765 (GRCm38)		probably benign	Het
Uvrag	G	A	7: 99,004,589 (GRCm38)	Q65*	probably null	Het
Wrap53	G	A	11: 69,562,740 (GRCm38)	S342L	possibly damaging	Het
Zbtb11	T	G	16: 55,990,343 (GRCm38)	V288G	probably damaging	Het

Other mutations in Ptpn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ptpn13	APN	5	103,551,058 (GRCm38)	missense	probably damaging	1.00
IGL00569:Ptpn13	APN	5	103,591,006 (GRCm38)	splice site	probably benign
IGL00764:Ptpn13	APN	5	103,597,718 (GRCm38)	missense	probably damaging	1.00
IGL00805:Ptpn13	APN	5	103,554,729 (GRCm38)	missense	probably benign	0.33
IGL00922:Ptpn13	APN	5	103,588,088 (GRCm38)	missense	probably damaging	1.00
IGL00959:Ptpn13	APN	5	103,517,571 (GRCm38)	critical splice donor site	probably null
IGL01090:Ptpn13	APN	5	103,541,314 (GRCm38)	missense	probably null	0.80
IGL01352:Ptpn13	APN	5	103,486,775 (GRCm38)	splice site	probably null
IGL01515:Ptpn13	APN	5	103,556,113 (GRCm38)	missense	probably benign	0.06
IGL01896:Ptpn13	APN	5	103,501,523 (GRCm38)	missense	possibly damaging	0.78
IGL02094:Ptpn13	APN	5	103,594,617 (GRCm38)	missense	probably damaging	1.00
IGL02561:Ptpn13	APN	5	103,562,291 (GRCm38)	missense	probably damaging	1.00
IGL02562:Ptpn13	APN	5	103,562,291 (GRCm38)	missense	probably damaging	1.00
IGL02567:Ptpn13	APN	5	103,562,291 (GRCm38)	missense	probably damaging	1.00
IGL02604:Ptpn13	APN	5	103,501,903 (GRCm38)	missense	probably benign	0.01
IGL02679:Ptpn13	APN	5	103,569,454 (GRCm38)	missense	possibly damaging	0.55
IGL02981:Ptpn13	APN	5	103,528,804 (GRCm38)	missense	probably damaging	1.00
IGL03131:Ptpn13	APN	5	103,517,559 (GRCm38)	missense	probably benign
IGL03136:Ptpn13	APN	5	103,543,463 (GRCm38)	missense	possibly damaging	0.49
IGL03163:Ptpn13	APN	5	103,591,346 (GRCm38)	missense	probably damaging	1.00
IGL03271:Ptpn13	APN	5	103,462,148 (GRCm38)	missense	probably damaging	1.00
IGL03297:Ptpn13	APN	5	103,541,077 (GRCm38)	missense	probably benign	0.13
IGL03328:Ptpn13	APN	5	103,516,348 (GRCm38)	missense	probably benign	0.00
IGL03343:Ptpn13	APN	5	103,554,950 (GRCm38)	missense	possibly damaging	0.88
IGL02835:Ptpn13	UTSW	5	103,560,025 (GRCm38)	missense	probably damaging	0.98
P0021:Ptpn13	UTSW	5	103,528,820 (GRCm38)	missense	probably benign	0.39
R0017:Ptpn13	UTSW	5	103,486,772 (GRCm38)	critical splice donor site	probably null
R0090:Ptpn13	UTSW	5	103,569,503 (GRCm38)	missense	probably damaging	1.00
R0111:Ptpn13	UTSW	5	103,580,763 (GRCm38)	splice site	probably benign
R0183:Ptpn13	UTSW	5	103,516,408 (GRCm38)	missense	probably benign	0.00
R0230:Ptpn13	UTSW	5	103,527,131 (GRCm38)	missense	probably damaging	1.00
R0302:Ptpn13	UTSW	5	103,565,225 (GRCm38)	missense	probably benign
R0360:Ptpn13	UTSW	5	103,533,348 (GRCm38)	missense	probably damaging	1.00
R0364:Ptpn13	UTSW	5	103,533,348 (GRCm38)	missense	probably damaging	1.00
R0388:Ptpn13	UTSW	5	103,555,062 (GRCm38)	missense	probably benign	0.31
R0504:Ptpn13	UTSW	5	103,501,496 (GRCm38)	missense	possibly damaging	0.92
R0558:Ptpn13	UTSW	5	103,529,717 (GRCm38)	missense	probably damaging	0.99
R0562:Ptpn13	UTSW	5	103,516,425 (GRCm38)	critical splice donor site	probably null
R0568:Ptpn13	UTSW	5	103,489,765 (GRCm38)	missense	probably damaging	1.00
R0609:Ptpn13	UTSW	5	103,556,145 (GRCm38)	missense	probably benign
R0669:Ptpn13	UTSW	5	103,556,109 (GRCm38)	missense	probably benign
R0739:Ptpn13	UTSW	5	103,575,132 (GRCm38)	missense	probably benign
R1006:Ptpn13	UTSW	5	103,586,789 (GRCm38)	missense	probably benign	0.04
R1164:Ptpn13	UTSW	5	103,489,773 (GRCm38)	missense	probably damaging	1.00
R1274:Ptpn13	UTSW	5	103,550,260 (GRCm38)	missense	probably damaging	0.98
R1501:Ptpn13	UTSW	5	103,516,364 (GRCm38)	missense	probably benign	0.01
R1529:Ptpn13	UTSW	5	103,564,132 (GRCm38)	missense	probably benign	0.00
R1533:Ptpn13	UTSW	5	103,556,178 (GRCm38)	nonsense	probably null
R1613:Ptpn13	UTSW	5	103,536,871 (GRCm38)	missense	possibly damaging	0.89
R1616:Ptpn13	UTSW	5	103,565,237 (GRCm38)	missense	possibly damaging	0.49
R1830:Ptpn13	UTSW	5	103,543,459 (GRCm38)	missense	probably benign	0.00
R1892:Ptpn13	UTSW	5	103,501,679 (GRCm38)	missense	possibly damaging	0.92
R1907:Ptpn13	UTSW	5	103,580,709 (GRCm38)	missense	probably null	0.45
R2143:Ptpn13	UTSW	5	103,556,133 (GRCm38)	missense	probably benign
R2145:Ptpn13	UTSW	5	103,556,133 (GRCm38)	missense	probably benign
R2151:Ptpn13	UTSW	5	103,525,785 (GRCm38)	missense	probably damaging	1.00
R2180:Ptpn13	UTSW	5	103,569,558 (GRCm38)	missense	probably damaging	1.00
R2264:Ptpn13	UTSW	5	103,489,661 (GRCm38)	missense	possibly damaging	0.96
R2313:Ptpn13	UTSW	5	103,564,161 (GRCm38)	missense	probably damaging	1.00
R3522:Ptpn13	UTSW	5	103,589,854 (GRCm38)	splice site	probably benign
R3773:Ptpn13	UTSW	5	103,477,121 (GRCm38)	missense	probably damaging	1.00
R3924:Ptpn13	UTSW	5	103,550,741 (GRCm38)	splice site	probably benign
R4289:Ptpn13	UTSW	5	103,533,285 (GRCm38)	missense	probably damaging	1.00
R4348:Ptpn13	UTSW	5	103,569,726 (GRCm38)	missense	probably damaging	1.00
R4385:Ptpn13	UTSW	5	103,533,407 (GRCm38)	splice site	probably null
R4526:Ptpn13	UTSW	5	103,501,469 (GRCm38)	missense	probably benign	0.32
R4557:Ptpn13	UTSW	5	103,541,110 (GRCm38)	missense	probably damaging	1.00
R4596:Ptpn13	UTSW	5	103,523,692 (GRCm38)	missense	probably benign	0.06
R4632:Ptpn13	UTSW	5	103,569,860 (GRCm38)	missense	possibly damaging	0.46
R4727:Ptpn13	UTSW	5	103,569,855 (GRCm38)	missense	probably benign
R4780:Ptpn13	UTSW	5	103,586,773 (GRCm38)	missense	probably benign	0.04
R4793:Ptpn13	UTSW	5	103,582,778 (GRCm38)	critical splice donor site	probably null
R4812:Ptpn13	UTSW	5	103,523,615 (GRCm38)	missense	probably benign	0.00
R4939:Ptpn13	UTSW	5	103,517,469 (GRCm38)	splice site	probably null
R4951:Ptpn13	UTSW	5	103,588,046 (GRCm38)	missense	probably benign	0.00
R5052:Ptpn13	UTSW	5	103,561,980 (GRCm38)	missense	probably damaging	1.00
R5148:Ptpn13	UTSW	5	103,492,232 (GRCm38)	missense	probably damaging	1.00
R5309:Ptpn13	UTSW	5	103,541,053 (GRCm38)	missense	probably damaging	1.00
R5521:Ptpn13	UTSW	5	103,501,428 (GRCm38)	missense	probably benign	0.03
R5545:Ptpn13	UTSW	5	103,561,964 (GRCm38)	missense	probably damaging	1.00
R5696:Ptpn13	UTSW	5	103,554,759 (GRCm38)	missense	probably benign	0.20
R5735:Ptpn13	UTSW	5	103,554,820 (GRCm38)	missense	probably benign	0.03
R5815:Ptpn13	UTSW	5	103,597,690 (GRCm38)	splice site	probably null
R5876:Ptpn13	UTSW	5	103,476,960 (GRCm38)	missense	probably damaging	1.00
R5878:Ptpn13	UTSW	5	103,477,118 (GRCm38)	missense	possibly damaging	0.89
R6366:Ptpn13	UTSW	5	103,551,053 (GRCm38)	missense	probably damaging	1.00
R6455:Ptpn13	UTSW	5	103,541,284 (GRCm38)	missense	probably benign	0.00
R6492:Ptpn13	UTSW	5	103,501,612 (GRCm38)	missense	probably benign	0.02
R6709:Ptpn13	UTSW	5	103,586,756 (GRCm38)	missense	probably benign	0.18
R6759:Ptpn13	UTSW	5	103,565,255 (GRCm38)	missense	possibly damaging	0.49
R6944:Ptpn13	UTSW	5	103,476,991 (GRCm38)	missense	probably null	1.00
R7079:Ptpn13	UTSW	5	103,501,886 (GRCm38)	missense	probably benign	0.00
R7253:Ptpn13	UTSW	5	103,565,284 (GRCm38)	missense	possibly damaging	0.68
R7254:Ptpn13	UTSW	5	103,594,636 (GRCm38)	missense	probably damaging	1.00
R7391:Ptpn13	UTSW	5	103,540,981 (GRCm38)	missense	probably damaging	1.00
R7451:Ptpn13	UTSW	5	103,527,095 (GRCm38)	missense	probably benign	0.16
R7614:Ptpn13	UTSW	5	103,501,465 (GRCm38)	missense	probably benign	0.13
R7652:Ptpn13	UTSW	5	103,529,712 (GRCm38)	missense	probably benign	0.12
R7655:Ptpn13	UTSW	5	103,540,983 (GRCm38)	missense	probably benign	0.00
R7656:Ptpn13	UTSW	5	103,540,983 (GRCm38)	missense	probably benign	0.00
R7683:Ptpn13	UTSW	5	103,565,152 (GRCm38)	missense	probably benign	0.01
R7734:Ptpn13	UTSW	5	103,561,962 (GRCm38)	missense	probably damaging	1.00
R7794:Ptpn13	UTSW	5	103,492,224 (GRCm38)	missense	probably benign	0.06
R7834:Ptpn13	UTSW	5	103,462,148 (GRCm38)	missense	probably damaging	1.00
R7911:Ptpn13	UTSW	5	103,541,058 (GRCm38)	missense	probably damaging	1.00
R8010:Ptpn13	UTSW	5	103,559,937 (GRCm38)	nonsense	probably null
R8308:Ptpn13	UTSW	5	103,540,972 (GRCm38)	missense	probably damaging	0.99
R8493:Ptpn13	UTSW	5	103,569,805 (GRCm38)	missense	probably benign	0.01
R8493:Ptpn13	UTSW	5	103,564,165 (GRCm38)	missense	probably damaging	1.00
R8507:Ptpn13	UTSW	5	103,557,949 (GRCm38)	missense	probably damaging	1.00
R8556:Ptpn13	UTSW	5	103,559,172 (GRCm38)	missense	probably damaging	1.00
R8924:Ptpn13	UTSW	5	103,591,235 (GRCm38)	missense	probably damaging	1.00
R8933:Ptpn13	UTSW	5	103,579,805 (GRCm38)	missense	probably benign	0.00
R8958:Ptpn13	UTSW	5	103,551,107 (GRCm38)	missense	probably benign	0.15
R8975:Ptpn13	UTSW	5	103,501,400 (GRCm38)	missense	probably benign	0.32
R9080:Ptpn13	UTSW	5	103,489,628 (GRCm38)	missense	probably damaging	0.99
R9091:Ptpn13	UTSW	5	103,501,869 (GRCm38)	missense	possibly damaging	0.67
R9219:Ptpn13	UTSW	5	103,597,766 (GRCm38)	missense	probably benign	0.16
R9270:Ptpn13	UTSW	5	103,501,869 (GRCm38)	missense	possibly damaging	0.67
R9577:Ptpn13	UTSW	5	103,528,809 (GRCm38)	missense	probably damaging	1.00
R9593:Ptpn13	UTSW	5	103,527,132 (GRCm38)	missense	possibly damaging	0.94
R9705:Ptpn13	UTSW	5	103,533,355 (GRCm38)	missense	possibly damaging	0.89
RF017:Ptpn13	UTSW	5	103,593,580 (GRCm38)	missense	probably benign	0.45
Z1177:Ptpn13	UTSW	5	103,569,556 (GRCm38)	missense	probably damaging	1.00

Posted On

2013-12-03