Mutagenetix > Incidental Mutations

Incidental Mutation 'R1501:Ptpn13'

169254

Institutional Source

Beutler Lab

Gene Symbol

Ptpn13

Ensembl Gene

ENSMUSG00000034573

Gene Name

protein tyrosine phosphatase, non-receptor type 13

Synonyms

PTPL1, Ptpri, PTP-BL

MMRRC Submission

040867-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.300) question?

Stock #

R1501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103425192-103598303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103516364 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 406 (I406T)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048957] [ENSMUST00000196014]

Predicted Effect

probably benign
Transcript: ENSMUST00000048957
AA Change: I406T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: I406T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196014

SMART Domains

Protein: ENSMUSP00000143571
Gene: ENSMUSG00000034573

Domain	Start	End	E-Value	Type
KIND	3	190	2.3e-80	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199412

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	T	14: 78,513,347	S533R	probably benign	Het
Amph	C	T	13: 19,104,291	Q317*	probably null	Het
Bach2	A	G	4: 32,562,279	T249A	possibly damaging	Het
Cacna2d3	A	G	14: 28,981,180	C845R	probably damaging	Het
Calml4	A	G	9: 62,871,340	K12E	probably benign	Het
Chrd	C	T	16: 20,737,533	R615W	probably damaging	Het
Chst15	T	A	7: 132,269,069	K246*	probably null	Het
Cmtr2	G	A	8: 110,221,603	D182N	probably benign	Het
Cyp2d9	C	A	15: 82,454,324	C186*	probably null	Het
Cyp3a13	G	T	5: 137,911,630		probably null	Het
Dcaf17	A	T	2: 71,081,988	I320F	probably damaging	Het
Ddx10	T	C	9: 53,233,997	I227V	possibly damaging	Het
Dlc1	G	T	8: 36,938,148	N162K	probably benign	Het
Dnhd1	G	A	7: 105,668,463	R455H	probably benign	Het
Drg2	G	T	11: 60,464,853	A306S	probably benign	Het
Dsg1a	A	T	18: 20,332,019	R422S	probably damaging	Het
Ehbp1l1	A	G	19: 5,716,424	V353A	probably damaging	Het
Emilin2	T	C	17: 71,310,761	S34G	probably benign	Het
Enpp2	C	A	15: 54,839,514	W862L	probably damaging	Het
Exoc2	T	C	13: 30,935,502	I139V	probably benign	Het
Fhad1	C	T	4: 141,964,625	R400H	probably benign	Het
Fv1	C	T	4: 147,870,138	T387M	probably damaging	Het
Gatad1	T	A	5: 3,643,701	D156V	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm4799	G	A	10: 82,954,635		noncoding transcript	Het
Hadha	A	G	5: 30,128,806	F405S	probably benign	Het
Ifit3	T	C	19: 34,588,251	V399A	probably benign	Het
Il1rapl1	G	T	X: 87,304,863	Y150*	probably null	Het
Kirrel	T	C	3: 87,090,472	E248G	probably benign	Het
Krt72	C	A	15: 101,778,334	K392N	probably damaging	Het
Loxhd1	G	A	18: 77,356,832	G309D	probably damaging	Het
Mc3r	T	G	2: 172,249,380	I174S	probably benign	Het
Me3	A	G	7: 89,633,065	D52G	probably benign	Het
Med12l	T	C	3: 59,260,835		probably null	Het
Mgat5	G	A	1: 127,397,641		probably null	Het
Mgea5	T	C	19: 45,778,640	D99G	probably null	Het
Mphosph10	A	T	7: 64,389,504	F239L	probably damaging	Het
Mrps7	T	C	11: 115,604,197	S13P	probably benign	Het
Nexn	T	C	3: 152,237,686	T527A	possibly damaging	Het
Nlrp1b	G	A	11: 71,156,059	H1156Y	probably damaging	Het
Nostrin	A	G	2: 69,158,785	E120G	probably damaging	Het
Nsun2	A	G	13: 69,631,587	E624G	probably damaging	Het
Olfr1189	G	A	2: 88,592,148	V115I	possibly damaging	Het
Olfr495	A	C	7: 108,396,082	K321Q	probably benign	Het
Olfr503	G	A	7: 108,544,575	V15I	probably benign	Het
Olfr730	A	G	14: 50,187,082	I45T	probably damaging	Het
Phldb2	T	C	16: 45,777,783	N802S	probably damaging	Het
Pik3c2g	T	C	6: 139,844,070		probably null	Het
Pikfyve	T	A	1: 65,265,284	I1670N	possibly damaging	Het
Pld5	A	G	1: 175,975,521	F393L	probably benign	Het
Plekhg1	C	A	10: 3,957,361	D759E	probably benign	Het
Plekhm1	A	G	11: 103,387,062	S403P	probably benign	Het
Pop1	T	C	15: 34,510,357	F432L	probably benign	Het
Ptpn5	G	T	7: 47,089,875	D185E	probably benign	Het
Rad50	G	T	11: 53,688,151	Q527K	possibly damaging	Het
Scn7a	A	G	2: 66,700,163	F613L	probably benign	Het
Sec16a	T	A	2: 26,440,045	M653L	probably benign	Het
Sh3bp2	T	C	5: 34,555,576		probably null	Het
Slc22a3	G	A	17: 12,507,104	T74I	probably benign	Het
Slc23a4	A	G	6: 34,955,122	L272P	probably damaging	Het
Slc26a8	T	C	17: 28,638,562	D869G	possibly damaging	Het
Slc5a11	T	A	7: 123,260,508	V291E	probably damaging	Het
Slc6a19	C	A	13: 73,684,048	A470S	probably benign	Het
Slfn8	A	G	11: 83,003,180	S878P	probably damaging	Het
Smchd1	A	G	17: 71,365,094	M1655T	possibly damaging	Het
Srgap2	A	G	1: 131,292,699	L179P	probably damaging	Het
Tbx2	A	G	11: 85,834,796	D191G	probably damaging	Het
Tenm3	A	G	8: 48,343,316	Y485H	probably damaging	Het
Trim12c	T	A	7: 104,340,888		probably benign	Het
Trpc6	A	G	9: 8,610,169	T213A	probably damaging	Het
Upp1	T	A	11: 9,134,708		probably null	Het
Vmn1r46	A	T	6: 89,976,216	I16L	probably benign	Het
Vmn2r75	A	T	7: 86,165,642	D214E	possibly damaging	Het
Vmn2r95	T	A	17: 18,439,856	Y177N	probably damaging	Het
Vmn2r99	T	G	17: 19,362,259	I42S	possibly damaging	Het
Zeb1	A	T	18: 5,761,399	K232N	possibly damaging	Het
Zfp280b	T	C	10: 76,039,769	I494T	probably damaging	Het
Zfp804a	A	G	2: 82,235,799	D38G	probably damaging	Het

Other mutations in Ptpn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ptpn13	APN	5	103551058	missense	probably damaging	1.00
IGL00569:Ptpn13	APN	5	103591006	splice site	probably benign
IGL00764:Ptpn13	APN	5	103597718	missense	probably damaging	1.00
IGL00805:Ptpn13	APN	5	103554729	missense	probably benign	0.33
IGL00922:Ptpn13	APN	5	103588088	missense	probably damaging	1.00
IGL00959:Ptpn13	APN	5	103517571	critical splice donor site	probably null
IGL01090:Ptpn13	APN	5	103541314	missense	probably null	0.80
IGL01352:Ptpn13	APN	5	103486775	splice site	probably null
IGL01510:Ptpn13	APN	5	103562300	missense	probably damaging	1.00
IGL01515:Ptpn13	APN	5	103556113	missense	probably benign	0.06
IGL01896:Ptpn13	APN	5	103501523	missense	possibly damaging	0.78
IGL02094:Ptpn13	APN	5	103594617	missense	probably damaging	1.00
IGL02561:Ptpn13	APN	5	103562291	missense	probably damaging	1.00
IGL02562:Ptpn13	APN	5	103562291	missense	probably damaging	1.00
IGL02567:Ptpn13	APN	5	103562291	missense	probably damaging	1.00
IGL02604:Ptpn13	APN	5	103501903	missense	probably benign	0.01
IGL02679:Ptpn13	APN	5	103569454	missense	possibly damaging	0.55
IGL02981:Ptpn13	APN	5	103528804	missense	probably damaging	1.00
IGL03131:Ptpn13	APN	5	103517559	missense	probably benign
IGL03136:Ptpn13	APN	5	103543463	missense	possibly damaging	0.49
IGL03163:Ptpn13	APN	5	103591346	missense	probably damaging	1.00
IGL03271:Ptpn13	APN	5	103462148	missense	probably damaging	1.00
IGL03297:Ptpn13	APN	5	103541077	missense	probably benign	0.13
IGL03328:Ptpn13	APN	5	103516348	missense	probably benign	0.00
IGL03343:Ptpn13	APN	5	103554950	missense	possibly damaging	0.88
IGL02835:Ptpn13	UTSW	5	103560025	missense	probably damaging	0.98
P0021:Ptpn13	UTSW	5	103528820	missense	probably benign	0.39
R0017:Ptpn13	UTSW	5	103486772	critical splice donor site	probably null
R0090:Ptpn13	UTSW	5	103569503	missense	probably damaging	1.00
R0111:Ptpn13	UTSW	5	103580763	splice site	probably benign
R0183:Ptpn13	UTSW	5	103516408	missense	probably benign	0.00
R0230:Ptpn13	UTSW	5	103527131	missense	probably damaging	1.00
R0302:Ptpn13	UTSW	5	103565225	missense	probably benign
R0360:Ptpn13	UTSW	5	103533348	missense	probably damaging	1.00
R0364:Ptpn13	UTSW	5	103533348	missense	probably damaging	1.00
R0388:Ptpn13	UTSW	5	103555062	missense	probably benign	0.31
R0504:Ptpn13	UTSW	5	103501496	missense	possibly damaging	0.92
R0558:Ptpn13	UTSW	5	103529717	missense	probably damaging	0.99
R0562:Ptpn13	UTSW	5	103516425	critical splice donor site	probably null
R0568:Ptpn13	UTSW	5	103489765	missense	probably damaging	1.00
R0609:Ptpn13	UTSW	5	103556145	missense	probably benign
R0669:Ptpn13	UTSW	5	103556109	missense	probably benign
R0739:Ptpn13	UTSW	5	103575132	missense	probably benign
R1006:Ptpn13	UTSW	5	103586789	missense	probably benign	0.04
R1164:Ptpn13	UTSW	5	103489773	missense	probably damaging	1.00
R1274:Ptpn13	UTSW	5	103550260	missense	probably damaging	0.98
R1529:Ptpn13	UTSW	5	103564132	missense	probably benign	0.00
R1533:Ptpn13	UTSW	5	103556178	nonsense	probably null
R1613:Ptpn13	UTSW	5	103536871	missense	possibly damaging	0.89
R1616:Ptpn13	UTSW	5	103565237	missense	possibly damaging	0.49
R1830:Ptpn13	UTSW	5	103543459	missense	probably benign	0.00
R1892:Ptpn13	UTSW	5	103501679	missense	possibly damaging	0.92
R1907:Ptpn13	UTSW	5	103580709	missense	probably null	0.45
R2143:Ptpn13	UTSW	5	103556133	missense	probably benign
R2145:Ptpn13	UTSW	5	103556133	missense	probably benign
R2151:Ptpn13	UTSW	5	103525785	missense	probably damaging	1.00
R2180:Ptpn13	UTSW	5	103569558	missense	probably damaging	1.00
R2264:Ptpn13	UTSW	5	103489661	missense	possibly damaging	0.96
R2313:Ptpn13	UTSW	5	103564161	missense	probably damaging	1.00
R3522:Ptpn13	UTSW	5	103589854	splice site	probably benign
R3773:Ptpn13	UTSW	5	103477121	missense	probably damaging	1.00
R3924:Ptpn13	UTSW	5	103550741	splice site	probably benign
R4289:Ptpn13	UTSW	5	103533285	missense	probably damaging	1.00
R4348:Ptpn13	UTSW	5	103569726	missense	probably damaging	1.00
R4385:Ptpn13	UTSW	5	103533407	splice site	probably null
R4526:Ptpn13	UTSW	5	103501469	missense	probably benign	0.32
R4557:Ptpn13	UTSW	5	103541110	missense	probably damaging	1.00
R4596:Ptpn13	UTSW	5	103523692	missense	probably benign	0.06
R4632:Ptpn13	UTSW	5	103569860	missense	possibly damaging	0.46
R4727:Ptpn13	UTSW	5	103569855	missense	probably benign
R4780:Ptpn13	UTSW	5	103586773	missense	probably benign	0.04
R4793:Ptpn13	UTSW	5	103582778	critical splice donor site	probably null
R4812:Ptpn13	UTSW	5	103523615	missense	probably benign	0.00
R4939:Ptpn13	UTSW	5	103517469	splice site	probably null
R4951:Ptpn13	UTSW	5	103588046	missense	probably benign	0.00
R5052:Ptpn13	UTSW	5	103561980	missense	probably damaging	1.00
R5148:Ptpn13	UTSW	5	103492232	missense	probably damaging	1.00
R5309:Ptpn13	UTSW	5	103541053	missense	probably damaging	1.00
R5521:Ptpn13	UTSW	5	103501428	missense	probably benign	0.03
R5545:Ptpn13	UTSW	5	103561964	missense	probably damaging	1.00
R5696:Ptpn13	UTSW	5	103554759	missense	probably benign	0.20
R5735:Ptpn13	UTSW	5	103554820	missense	probably benign	0.03
R5815:Ptpn13	UTSW	5	103597690	splice site	probably null
R5876:Ptpn13	UTSW	5	103476960	missense	probably damaging	1.00
R5878:Ptpn13	UTSW	5	103477118	missense	possibly damaging	0.89
R6366:Ptpn13	UTSW	5	103551053	missense	probably damaging	1.00
R6455:Ptpn13	UTSW	5	103541284	missense	probably benign	0.00
R6492:Ptpn13	UTSW	5	103501612	missense	probably benign	0.02
R6709:Ptpn13	UTSW	5	103586756	missense	probably benign	0.18
R6759:Ptpn13	UTSW	5	103565255	missense	possibly damaging	0.49
R6944:Ptpn13	UTSW	5	103476991	missense	probably null	1.00
R7079:Ptpn13	UTSW	5	103501886	missense	probably benign	0.00
R7253:Ptpn13	UTSW	5	103565284	missense	possibly damaging	0.68
R7254:Ptpn13	UTSW	5	103594636	missense	probably damaging	1.00
R7391:Ptpn13	UTSW	5	103540981	missense	probably damaging	1.00
R7451:Ptpn13	UTSW	5	103527095	missense	probably benign	0.16
R7614:Ptpn13	UTSW	5	103501465	missense	probably benign	0.13
R7652:Ptpn13	UTSW	5	103529712	missense	probably benign	0.12
R7655:Ptpn13	UTSW	5	103540983	missense	probably benign	0.00
R7656:Ptpn13	UTSW	5	103540983	missense	probably benign	0.00
R7683:Ptpn13	UTSW	5	103565152	missense	probably benign	0.01
R7734:Ptpn13	UTSW	5	103561962	missense	probably damaging	1.00
R7794:Ptpn13	UTSW	5	103492224	missense	probably benign	0.06
R7834:Ptpn13	UTSW	5	103462148	missense	probably damaging	1.00
R7911:Ptpn13	UTSW	5	103541058	missense	probably damaging	1.00
R8010:Ptpn13	UTSW	5	103559937	nonsense	probably null
R8308:Ptpn13	UTSW	5	103540972	missense	probably damaging	0.99
R8493:Ptpn13	UTSW	5	103564165	missense	probably damaging	1.00
R8493:Ptpn13	UTSW	5	103569805	missense	probably benign	0.01
R8507:Ptpn13	UTSW	5	103557949	missense	probably damaging	1.00
R8556:Ptpn13	UTSW	5	103559172	missense	probably damaging	1.00
RF017:Ptpn13	UTSW	5	103593580	missense	probably benign	0.45
Z1177:Ptpn13	UTSW	5	103569556	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-04-13