Mutagenetix > Incidental Mutation

Incidental Mutation 'R8493:Ptpn13'

658111

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

067935-MU

Accession Numbers

Essential gene?

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

Stock #

R8493 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103573058-103746169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103717671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1906 (I1906V)

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: I1906V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: I1906V

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,653,453 (GRCm39)	M1L	unknown	Het
Abca13	T	A	11: 9,460,668 (GRCm39)	I4226N	probably damaging	Het
Ankrd10	C	A	8: 11,678,518 (GRCm39)	E125*	probably null	Het
Apob	A	T	12: 8,059,009 (GRCm39)	D2497V	possibly damaging	Het
Arap1	G	A	7: 101,035,725 (GRCm39)	W87*	probably null	Het
Arhgef37	C	T	18: 61,640,277 (GRCm39)	V261I	probably benign	Het
Arl4a	A	C	12: 40,086,472 (GRCm39)	C92G	probably benign	Het
Arrdc2	C	T	8: 71,289,501 (GRCm39)		probably null	Het
Atg16l1	A	C	1: 87,706,704 (GRCm39)	T355P	probably damaging	Het
Card14	T	G	11: 119,224,435 (GRCm39)		probably null	Het
Cd109	G	A	9: 78,564,801 (GRCm39)	V249I	probably benign	Het
Cdhr4	A	G	9: 107,873,453 (GRCm39)	D395G	probably damaging	Het
Celsr1	C	A	15: 85,822,207 (GRCm39)	M1703I	possibly damaging	Het
Cfap157	A	G	2: 32,669,752 (GRCm39)	I277T	probably benign	Het
Chst4	A	G	8: 110,757,095 (GRCm39)	V173A	probably damaging	Het
Clca4b	T	C	3: 144,617,911 (GRCm39)	N731D	probably benign	Het
Col11a2	A	G	17: 34,278,936 (GRCm39)	E1122G	possibly damaging	Het
Csf1r	C	G	18: 61,247,954 (GRCm39)	P341A	probably damaging	Het
Dclk3	A	G	9: 111,297,215 (GRCm39)	E253G	probably benign	Het
Dnah2	T	A	11: 69,343,804 (GRCm39)	D2829V	probably damaging	Het
Dnah7a	T	C	1: 53,512,067 (GRCm39)	N2998S	probably damaging	Het
Ehbp1	C	T	11: 22,235,842 (GRCm39)		probably benign	Het
Eprs1	A	T	1: 185,139,371 (GRCm39)	K919*	probably null	Het
Esp16	A	T	17: 39,850,821 (GRCm39)	K67*	probably null	Het
Fam169a	G	T	13: 97,259,367 (GRCm39)	E474D	probably benign	Het
Fam83h	C	T	15: 75,874,502 (GRCm39)	R945H	probably benign	Het
Flnb	T	A	14: 7,869,822 (GRCm38)	V195E	probably damaging	Het
Gm3159	T	C	14: 4,398,567 (GRCm38)	I86T	probably damaging	Het
Gm4744	G	A	6: 40,926,281 (GRCm39)	S103F		Het
Gvin2	A	G	7: 105,548,088 (GRCm39)	S1655P	probably benign	Het
Ift122	T	A	6: 115,887,292 (GRCm39)	I713N	probably benign	Het
Ilkap	A	G	1: 91,306,266 (GRCm39)	I105T	probably damaging	Het
Isl1	G	T	13: 116,441,835 (GRCm39)	H133N	possibly damaging	Het
Jade1	T	A	3: 41,559,113 (GRCm39)	L398Q	possibly damaging	Het
Kcnh7	C	T	2: 62,681,003 (GRCm39)	V195M	probably benign	Het
Kif3a	A	T	11: 53,489,627 (GRCm39)	K669*	probably null	Het
L3mbtl4	G	A	17: 68,937,239 (GRCm39)	R420H	probably damaging	Het
Mrgprb1	A	T	7: 48,097,321 (GRCm39)	I197N	probably damaging	Het
Mthfd1	A	G	12: 76,340,929 (GRCm39)	T263A	probably damaging	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Naxe	A	G	3: 87,965,757 (GRCm39)		probably benign	Het
Ndufs2	T	C	1: 171,068,677 (GRCm39)	T51A	probably benign	Het
Nlrc5	T	A	8: 95,249,848 (GRCm39)	L1824Q	probably damaging	Het
Notch1	A	G	2: 26,362,251 (GRCm39)	V27A	unknown	Het
Nucks1	A	T	1: 131,857,473 (GRCm39)	M169L	probably benign	Het
Or10ag53	T	A	2: 87,083,215 (GRCm39)	D311E	probably benign	Het
Or13p4	C	T	4: 118,547,229 (GRCm39)	S140N	probably benign	Het
Or4a80	T	A	2: 89,582,599 (GRCm39)	Y191F	probably benign	Het
Or4k45	T	A	2: 111,395,324 (GRCm39)	H155L	probably damaging	Het
Or51aa2	A	T	7: 103,187,479 (GRCm39)	S321T	probably benign	Het
Or52n20	G	T	7: 104,320,022 (GRCm39)	V38L	probably benign	Het
Or5w10	T	A	2: 87,375,114 (GRCm39)	Y258F	probably damaging	Het
Pcnt	C	T	10: 76,239,457 (GRCm39)		probably null	Het
Pdcd7	T	C	9: 65,254,039 (GRCm39)	S206P	probably benign	Het
Pdia4	A	T	6: 47,773,575 (GRCm39)	Y591*	probably null	Het
Pgap6	G	T	17: 26,340,931 (GRCm39)	R678L	probably damaging	Het
Plxna4	C	T	6: 32,192,647 (GRCm39)	M771I	probably benign	Het
Pramel47	C	T	5: 95,488,092 (GRCm39)	H9Y	possibly damaging	Het
Rab33b	T	A	3: 51,391,795 (GRCm39)	S15T	probably benign	Het
Rasip1	A	T	7: 45,284,467 (GRCm39)	M644L	possibly damaging	Het
Rnf4	G	A	5: 34,506,035 (GRCm39)	C55Y	probably damaging	Het
Sel1l	A	T	12: 91,780,735 (GRCm39)	Y585*	probably null	Het
Slc40a1	A	T	1: 45,950,576 (GRCm39)	F292Y	probably damaging	Het
Smarca4	G	A	9: 21,570,144 (GRCm39)	D716N	probably damaging	Het
Sp7	T	A	15: 102,266,837 (GRCm39)	H323L	possibly damaging	Het
Speer1m	T	C	5: 11,971,489 (GRCm39)	L147P	probably damaging	Het
Sprtn	A	G	8: 125,629,933 (GRCm39)	S409G	probably benign	Het
St3gal2	T	G	8: 111,688,853 (GRCm39)	L131R	probably damaging	Het
Tctn1	A	G	5: 122,399,552 (GRCm39)	C91R	probably damaging	Het
Tgm1	A	T	14: 55,937,754 (GRCm39)	V785E	probably damaging	Het
Topaz1	G	T	9: 122,579,573 (GRCm39)	V828L	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ttc27	G	A	17: 75,050,047 (GRCm39)		probably null	Het
Usp2	G	A	9: 43,987,350 (GRCm39)	G216D	possibly damaging	Het
Vmn2r99	A	G	17: 19,614,020 (GRCm39)	D580G	probably benign	Het
Wbp1l	G	A	19: 46,640,988 (GRCm39)	R106H	possibly damaging	Het
Zmym2	G	T	14: 57,151,606 (GRCm39)	C497F	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
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	103,712,031 (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'- TTACAGTCACATGCCACGGAG -3'
(R):5'- ACTGCCCAGTGCTTTATGC -3'

Sequencing Primer
(F):5'- ACAAGCTTTGCTCAGGACG -3'
(R):5'- TATGCATGCATACATATACCCAAGG -3'

Posted On

2021-01-18