Mutagenetix > Incidental Mutation

Incidental Mutation 'R6455:Ptpn13'

519531

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

044591-MU

Accession Numbers

Essential gene?

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

Stock #

R6455 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103573058-103746169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103689150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 981 (M981T)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048957
AA Change: M981T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: M981T

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

noncoding transcript
Transcript: ENSMUST00000199412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200581

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

96% (70/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,042,376 (GRCm39)	R1899G	probably damaging	Het
Abca6	C	T	11: 110,132,407 (GRCm39)	G296D	probably damaging	Het
Abcb5	A	T	12: 118,854,284 (GRCm39)		probably null	Het
Adam28	T	G	14: 68,870,657 (GRCm39)	T339P	probably damaging	Het
Adam34l	T	A	8: 44,079,189 (GRCm39)	H345L	probably damaging	Het
Adcy10	C	G	1: 165,345,943 (GRCm39)	Q331E	probably damaging	Het
Aldh1a2	A	T	9: 71,160,196 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,673,639 (GRCm39)	I3078N	probably damaging	Het
Amtn	A	T	5: 88,528,139 (GRCm39)	N71Y	probably damaging	Het
Arhgef18	A	T	8: 3,438,753 (GRCm39)	Y370F	probably benign	Het
Arid4a	T	C	12: 71,121,862 (GRCm39)	S748P	probably benign	Het
Atp2b1	C	A	10: 98,852,842 (GRCm39)	Q108K	possibly damaging	Het
Bcdin3d	T	C	15: 99,368,830 (GRCm39)	D123G	probably benign	Het
Capn15	A	G	17: 26,184,410 (GRCm39)	S24P	probably damaging	Het
Cc2d2a	T	A	5: 43,896,754 (GRCm39)	S1550R	possibly damaging	Het
Ccdc7a	C	T	8: 129,559,091 (GRCm39)	V1174M	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Ceacam3	T	C	7: 16,895,863 (GRCm39)	I611T	possibly damaging	Het
Chrna1	C	T	2: 73,397,180 (GRCm39)	D370N	possibly damaging	Het
Dlg2	C	A	7: 92,093,716 (GRCm39)		probably null	Het
Dll4	A	T	2: 119,164,276 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,058,108 (GRCm39)	S137P	probably benign	Het
Epn2	A	T	11: 61,424,467 (GRCm39)	M250K	probably damaging	Het
Fat2	T	A	11: 55,161,283 (GRCm39)	Q3149L	probably damaging	Het
Fbxl13	G	A	5: 21,761,812 (GRCm39)	S341F	probably benign	Het
Gm5141	A	T	13: 62,922,597 (GRCm39)	C191S	probably damaging	Het
Gm5150	C	T	3: 16,044,815 (GRCm39)	G137S	probably damaging	Het
Gpr75	C	T	11: 30,841,529 (GRCm39)	R145W	probably damaging	Het
Heatr5b	G	A	17: 79,060,502 (GRCm39)	H2058Y	probably benign	Het
Ina	G	A	19: 47,012,000 (GRCm39)	E473K	probably benign	Het
Irx6	T	C	8: 93,402,700 (GRCm39)	S22P	probably benign	Het
Itpr1	T	A	6: 108,394,933 (GRCm39)	M32K	probably damaging	Het
Jmjd1c	T	A	10: 67,061,795 (GRCm39)	S1383T	probably benign	Het
Lclat1	T	A	17: 73,468,828 (GRCm39)	S3T	probably damaging	Het
Llgl1	G	A	11: 60,600,486 (GRCm39)	V612M	probably damaging	Het
Mios	A	G	6: 8,231,239 (GRCm39)	R708G	probably benign	Het
Mphosph8	T	C	14: 56,925,943 (GRCm39)	L636P	probably damaging	Het
Mrgpra2b	T	A	7: 47,113,893 (GRCm39)	N254Y	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Myog	G	A	1: 134,218,226 (GRCm39)	D145N	probably benign	Het
Nat10	T	A	2: 103,570,231 (GRCm39)	I371F	possibly damaging	Het
Neb	A	T	2: 52,057,656 (GRCm39)	Y229*	probably null	Het
Nlrp6	T	A	7: 140,507,422 (GRCm39)	I896K	possibly damaging	Het
Or11g7	A	T	14: 50,691,042 (GRCm39)	I178L	possibly damaging	Het
Or52p2	G	A	7: 102,237,878 (GRCm39)	A24V	probably benign	Het
Or5an11	T	C	19: 12,246,070 (GRCm39)	S159P	probably damaging	Het
Pate5	T	A	9: 35,755,351 (GRCm39)	K3*	probably null	Het
Pcdhgc5	A	C	18: 37,954,301 (GRCm39)	E525A	probably damaging	Het
Pira1	T	A	7: 3,741,930 (GRCm39)	Y150F	probably benign	Het
Pkd2	C	A	5: 104,607,790 (GRCm39)	D96E	probably benign	Het
Prtg	A	G	9: 72,815,138 (GRCm39)	D1022G	probably damaging	Het
Rc3h2	C	A	2: 37,299,482 (GRCm39)	A183S	probably damaging	Het
Rorb	A	T	19: 18,937,856 (GRCm39)	I270N	probably damaging	Het
Rpgrip1	C	T	14: 52,378,646 (GRCm39)	R524W	probably damaging	Het
Slc25a10	T	C	11: 120,386,031 (GRCm39)	V124A	probably damaging	Het
Slc40a1	T	A	1: 45,958,107 (GRCm39)	I109F	probably damaging	Het
Spen	G	A	4: 141,202,820 (GRCm39)	R1936W	probably damaging	Het
St6gal2	T	A	17: 55,789,514 (GRCm39)	Y183N	probably benign	Het
Svil	A	G	18: 5,056,629 (GRCm39)	K588E	possibly damaging	Het
Tas2r122	C	T	6: 132,688,626 (GRCm39)	W89*	probably null	Het
Tbxas1	T	A	6: 38,929,079 (GRCm39)		probably benign	Het
Tia1	T	A	6: 86,397,360 (GRCm39)	I111N	probably damaging	Het
Tlr9	T	A	9: 106,101,198 (GRCm39)	L163H	probably damaging	Het
Tnn	C	T	1: 159,942,289 (GRCm39)	V806M	probably damaging	Het
Traf5	G	A	1: 191,731,887 (GRCm39)	A318V	probably benign	Het
Ttc3	T	A	16: 94,219,482 (GRCm39)	M1K	probably null	Het
Utp25	G	T	1: 192,810,684 (GRCm39)	D106E	probably benign	Het
Vmn1r192	T	A	13: 22,372,000 (GRCm39)	R73S	probably benign	Het
Vmn1r71	T	C	7: 10,482,331 (GRCm39)	Y53C	probably benign	Het
Vmn2r34	T	A	7: 7,686,582 (GRCm39)	N372Y	probably damaging	Het
Wbp2	A	T	11: 115,970,579 (GRCm39)	S229R	probably damaging	Het
Wdr18	C	T	10: 79,801,115 (GRCm39)	T176I	probably damaging	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
R2264:Ptpn13	UTSW	5	103,637,527 (GRCm39)	missense	possibly damaging	0.96
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
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'- ACCCCTGTCAGTTCAAGCTG -3'
(R):5'- GGCAACAGACTTTGAACTACAG -3'

Sequencing Primer
(F):5'- CTGTCAGTTCAAGCTGAGATTC -3'
(R):5'- TGTCAATGCAAAAAGAACACGGTG -3'

Posted On

2018-05-24