Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Ptpn13'

243986

Institutional Source

Beutler Lab

Gene Symbol

Ptpn13

Ensembl Gene

ENSMUSG00000034573

Gene Name

protein tyrosine phosphatase, non-receptor type 13

Synonyms

PTPL1, PTP-BL, Ptpri

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103573058-103746169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103637527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 138 (D138E)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048957
AA Change: D138E

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: D138E

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

possibly damaging
Transcript: ENSMUST00000196014
AA Change: D138E

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143571
Gene: ENSMUSG00000034573
AA Change: D138E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199412

Meta Mutation Damage Score

0.1752

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Wbp2	T	C	11: 115,970,424 (GRCm39)		probably null	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Ptpn13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ptpn13	APN	5	103,698,924 (GRCm39)	missense	probably damaging	1.00
IGL00569:Ptpn13	APN	5	103,738,872 (GRCm39)	splice site	probably benign
IGL00764:Ptpn13	APN	5	103,745,584 (GRCm39)	missense	probably damaging	1.00
IGL00805:Ptpn13	APN	5	103,702,595 (GRCm39)	missense	probably benign	0.33
IGL00922:Ptpn13	APN	5	103,735,954 (GRCm39)	missense	probably damaging	1.00
IGL00959:Ptpn13	APN	5	103,665,437 (GRCm39)	critical splice donor site	probably null
IGL01090:Ptpn13	APN	5	103,689,180 (GRCm39)	missense	probably null	0.80
IGL01352:Ptpn13	APN	5	103,634,641 (GRCm39)	splice site	probably null
IGL01510:Ptpn13	APN	5	103,710,166 (GRCm39)	missense	probably damaging	1.00
IGL01515:Ptpn13	APN	5	103,703,979 (GRCm39)	missense	probably benign	0.06
IGL01896:Ptpn13	APN	5	103,649,389 (GRCm39)	missense	possibly damaging	0.78
IGL02094:Ptpn13	APN	5	103,742,483 (GRCm39)	missense	probably damaging	1.00
IGL02561:Ptpn13	APN	5	103,710,157 (GRCm39)	missense	probably damaging	1.00
IGL02562:Ptpn13	APN	5	103,710,157 (GRCm39)	missense	probably damaging	1.00
IGL02567:Ptpn13	APN	5	103,710,157 (GRCm39)	missense	probably damaging	1.00
IGL02604:Ptpn13	APN	5	103,649,769 (GRCm39)	missense	probably benign	0.01
IGL02679:Ptpn13	APN	5	103,717,320 (GRCm39)	missense	possibly damaging	0.55
IGL02981:Ptpn13	APN	5	103,676,670 (GRCm39)	missense	probably damaging	1.00
IGL03131:Ptpn13	APN	5	103,665,425 (GRCm39)	missense	probably benign
IGL03136:Ptpn13	APN	5	103,691,329 (GRCm39)	missense	possibly damaging	0.49
IGL03163:Ptpn13	APN	5	103,739,212 (GRCm39)	missense	probably damaging	1.00
IGL03271:Ptpn13	APN	5	103,610,014 (GRCm39)	missense	probably damaging	1.00
IGL03297:Ptpn13	APN	5	103,688,943 (GRCm39)	missense	probably benign	0.13
IGL03328:Ptpn13	APN	5	103,664,214 (GRCm39)	missense	probably benign	0.00
IGL03343:Ptpn13	APN	5	103,702,816 (GRCm39)	missense	possibly damaging	0.88
IGL02835:Ptpn13	UTSW	5	103,707,891 (GRCm39)	missense	probably damaging	0.98
P0021:Ptpn13	UTSW	5	103,676,686 (GRCm39)	missense	probably benign	0.39
R0017:Ptpn13	UTSW	5	103,634,638 (GRCm39)	critical splice donor site	probably null
R0090:Ptpn13	UTSW	5	103,717,369 (GRCm39)	missense	probably damaging	1.00
R0111:Ptpn13	UTSW	5	103,728,629 (GRCm39)	splice site	probably benign
R0183:Ptpn13	UTSW	5	103,664,274 (GRCm39)	missense	probably benign	0.00
R0230:Ptpn13	UTSW	5	103,674,997 (GRCm39)	missense	probably damaging	1.00
R0302:Ptpn13	UTSW	5	103,713,091 (GRCm39)	missense	probably benign
R0360:Ptpn13	UTSW	5	103,681,214 (GRCm39)	missense	probably damaging	1.00
R0364:Ptpn13	UTSW	5	103,681,214 (GRCm39)	missense	probably damaging	1.00
R0388:Ptpn13	UTSW	5	103,702,928 (GRCm39)	missense	probably benign	0.31
R0504:Ptpn13	UTSW	5	103,649,362 (GRCm39)	missense	possibly damaging	0.92
R0558:Ptpn13	UTSW	5	103,677,583 (GRCm39)	missense	probably damaging	0.99
R0562:Ptpn13	UTSW	5	103,664,291 (GRCm39)	critical splice donor site	probably null
R0568:Ptpn13	UTSW	5	103,637,631 (GRCm39)	missense	probably damaging	1.00
R0609:Ptpn13	UTSW	5	103,704,011 (GRCm39)	missense	probably benign
R0669:Ptpn13	UTSW	5	103,703,975 (GRCm39)	missense	probably benign
R0739:Ptpn13	UTSW	5	103,722,998 (GRCm39)	missense	probably benign
R1006:Ptpn13	UTSW	5	103,734,655 (GRCm39)	missense	probably benign	0.04
R1164:Ptpn13	UTSW	5	103,637,639 (GRCm39)	missense	probably damaging	1.00
R1274:Ptpn13	UTSW	5	103,698,126 (GRCm39)	missense	probably damaging	0.98
R1501:Ptpn13	UTSW	5	103,664,230 (GRCm39)	missense	probably benign	0.01
R1529:Ptpn13	UTSW	5	103,711,998 (GRCm39)	missense	probably benign	0.00
R1533:Ptpn13	UTSW	5	103,704,044 (GRCm39)	nonsense	probably null
R1613:Ptpn13	UTSW	5	103,684,737 (GRCm39)	missense	possibly damaging	0.89
R1616:Ptpn13	UTSW	5	103,713,103 (GRCm39)	missense	possibly damaging	0.49
R1830:Ptpn13	UTSW	5	103,691,325 (GRCm39)	missense	probably benign	0.00
R1892:Ptpn13	UTSW	5	103,649,545 (GRCm39)	missense	possibly damaging	0.92
R1907:Ptpn13	UTSW	5	103,728,575 (GRCm39)	missense	probably null	0.45
R2143:Ptpn13	UTSW	5	103,703,999 (GRCm39)	missense	probably benign
R2145:Ptpn13	UTSW	5	103,703,999 (GRCm39)	missense	probably benign
R2151:Ptpn13	UTSW	5	103,673,651 (GRCm39)	missense	probably damaging	1.00
R2180:Ptpn13	UTSW	5	103,717,424 (GRCm39)	missense	probably damaging	1.00
R2313:Ptpn13	UTSW	5	103,712,027 (GRCm39)	missense	probably damaging	1.00
R3522:Ptpn13	UTSW	5	103,737,720 (GRCm39)	splice site	probably benign
R3773:Ptpn13	UTSW	5	103,624,987 (GRCm39)	missense	probably damaging	1.00
R3924:Ptpn13	UTSW	5	103,698,607 (GRCm39)	splice site	probably benign
R4289:Ptpn13	UTSW	5	103,681,151 (GRCm39)	missense	probably damaging	1.00
R4348:Ptpn13	UTSW	5	103,717,592 (GRCm39)	missense	probably damaging	1.00
R4385:Ptpn13	UTSW	5	103,681,273 (GRCm39)	splice site	probably null
R4526:Ptpn13	UTSW	5	103,649,335 (GRCm39)	missense	probably benign	0.32
R4557:Ptpn13	UTSW	5	103,688,976 (GRCm39)	missense	probably damaging	1.00
R4596:Ptpn13	UTSW	5	103,671,558 (GRCm39)	missense	probably benign	0.06
R4632:Ptpn13	UTSW	5	103,717,726 (GRCm39)	missense	possibly damaging	0.46
R4727:Ptpn13	UTSW	5	103,717,721 (GRCm39)	missense	probably benign
R4780:Ptpn13	UTSW	5	103,734,639 (GRCm39)	missense	probably benign	0.04
R4793:Ptpn13	UTSW	5	103,730,644 (GRCm39)	critical splice donor site	probably null
R4812:Ptpn13	UTSW	5	103,671,481 (GRCm39)	missense	probably benign	0.00
R4939:Ptpn13	UTSW	5	103,665,335 (GRCm39)	splice site	probably null
R4951:Ptpn13	UTSW	5	103,735,912 (GRCm39)	missense	probably benign	0.00
R5052:Ptpn13	UTSW	5	103,709,846 (GRCm39)	missense	probably damaging	1.00
R5148:Ptpn13	UTSW	5	103,640,098 (GRCm39)	missense	probably damaging	1.00
R5309:Ptpn13	UTSW	5	103,688,919 (GRCm39)	missense	probably damaging	1.00
R5521:Ptpn13	UTSW	5	103,649,294 (GRCm39)	missense	probably benign	0.03
R5545:Ptpn13	UTSW	5	103,709,830 (GRCm39)	missense	probably damaging	1.00
R5696:Ptpn13	UTSW	5	103,702,625 (GRCm39)	missense	probably benign	0.20
R5735:Ptpn13	UTSW	5	103,702,686 (GRCm39)	missense	probably benign	0.03
R5815:Ptpn13	UTSW	5	103,745,556 (GRCm39)	splice site	probably null
R5876:Ptpn13	UTSW	5	103,624,826 (GRCm39)	missense	probably damaging	1.00
R5878:Ptpn13	UTSW	5	103,624,984 (GRCm39)	missense	possibly damaging	0.89
R6366:Ptpn13	UTSW	5	103,698,919 (GRCm39)	missense	probably damaging	1.00
R6455:Ptpn13	UTSW	5	103,689,150 (GRCm39)	missense	probably benign	0.00
R6492:Ptpn13	UTSW	5	103,649,478 (GRCm39)	missense	probably benign	0.02
R6709:Ptpn13	UTSW	5	103,734,622 (GRCm39)	missense	probably benign	0.18
R6759:Ptpn13	UTSW	5	103,713,121 (GRCm39)	missense	possibly damaging	0.49
R6944:Ptpn13	UTSW	5	103,624,857 (GRCm39)	missense	probably null	1.00
R7079:Ptpn13	UTSW	5	103,649,752 (GRCm39)	missense	probably benign	0.00
R7253:Ptpn13	UTSW	5	103,713,150 (GRCm39)	missense	possibly damaging	0.68
R7254:Ptpn13	UTSW	5	103,742,502 (GRCm39)	missense	probably damaging	1.00
R7391:Ptpn13	UTSW	5	103,688,847 (GRCm39)	missense	probably damaging	1.00
R7451:Ptpn13	UTSW	5	103,674,961 (GRCm39)	missense	probably benign	0.16
R7614:Ptpn13	UTSW	5	103,649,331 (GRCm39)	missense	probably benign	0.13
R7652:Ptpn13	UTSW	5	103,677,578 (GRCm39)	missense	probably benign	0.12
R7655:Ptpn13	UTSW	5	103,688,849 (GRCm39)	missense	probably benign	0.00
R7656:Ptpn13	UTSW	5	103,688,849 (GRCm39)	missense	probably benign	0.00
R7683:Ptpn13	UTSW	5	103,713,018 (GRCm39)	missense	probably benign	0.01
R7734:Ptpn13	UTSW	5	103,709,828 (GRCm39)	missense	probably damaging	1.00
R7794:Ptpn13	UTSW	5	103,640,090 (GRCm39)	missense	probably benign	0.06
R7834:Ptpn13	UTSW	5	103,610,014 (GRCm39)	missense	probably damaging	1.00
R7911:Ptpn13	UTSW	5	103,688,924 (GRCm39)	missense	probably damaging	1.00
R8010:Ptpn13	UTSW	5	103,707,803 (GRCm39)	nonsense	probably null
R8308:Ptpn13	UTSW	5	103,688,838 (GRCm39)	missense	probably damaging	0.99
R8493:Ptpn13	UTSW	5	103,717,671 (GRCm39)	missense	probably benign	0.01
R8493:Ptpn13	UTSW	5	103,712,031 (GRCm39)	missense	probably damaging	1.00
R8507:Ptpn13	UTSW	5	103,705,815 (GRCm39)	missense	probably damaging	1.00
R8556:Ptpn13	UTSW	5	103,707,038 (GRCm39)	missense	probably damaging	1.00
R8924:Ptpn13	UTSW	5	103,739,101 (GRCm39)	missense	probably damaging	1.00
R8933:Ptpn13	UTSW	5	103,727,671 (GRCm39)	missense	probably benign	0.00
R8958:Ptpn13	UTSW	5	103,698,973 (GRCm39)	missense	probably benign	0.15
R8975:Ptpn13	UTSW	5	103,649,266 (GRCm39)	missense	probably benign	0.32
R9080:Ptpn13	UTSW	5	103,637,494 (GRCm39)	missense	probably damaging	0.99
R9091:Ptpn13	UTSW	5	103,649,735 (GRCm39)	missense	possibly damaging	0.67
R9219:Ptpn13	UTSW	5	103,745,632 (GRCm39)	missense	probably benign	0.16
R9270:Ptpn13	UTSW	5	103,649,735 (GRCm39)	missense	possibly damaging	0.67
R9577:Ptpn13	UTSW	5	103,676,675 (GRCm39)	missense	probably damaging	1.00
R9593:Ptpn13	UTSW	5	103,674,998 (GRCm39)	missense	possibly damaging	0.94
R9705:Ptpn13	UTSW	5	103,681,221 (GRCm39)	missense	possibly damaging	0.89
RF017:Ptpn13	UTSW	5	103,741,446 (GRCm39)	missense	probably benign	0.45
Z1177:Ptpn13	UTSW	5	103,717,422 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGGAAAACATGTTGACTTCCTTCTC -3'
(R):5'- CAAGTATGACTATGCTTACACGTTAGC -3'

Sequencing Primer
(F):5'- TAAATACATCAGCGAGACATAACTG -3'
(R):5'- ATGCTTACACGTTAGCACTGTAGC -3'

Posted On

2014-10-16