Mutagenetix > Incidental Mutation

Incidental Mutation 'R8975:Ptpn13'

683370

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

068809-MU

Accession Numbers

Essential gene?

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

Stock #

R8975 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103573058-103746169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103649266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 223 (H223R)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048957
AA Change: H223R

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: H223R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (64/64)

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
1700018F24Rik	A	G	5: 144,980,192 (GRCm39)	D47G	probably damaging	Het
4930550C14Rik	A	T	9: 53,334,258 (GRCm39)	K167M	possibly damaging	Het
Abhd16b	A	G	2: 181,135,806 (GRCm39)	N236S	probably benign	Het
Ahnak	T	G	19: 8,990,101 (GRCm39)	V3795G	probably damaging	Het
Atg2b	A	T	12: 105,602,725 (GRCm39)	M1606K	probably damaging	Het
Bmt2	A	T	6: 13,630,611 (GRCm39)	I187K	probably damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Cep290	A	G	10: 100,349,782 (GRCm39)	N610D	possibly damaging	Het
Ctps1	C	T	4: 120,406,743 (GRCm39)	D338N	probably benign	Het
Ctsz	A	T	2: 174,275,421 (GRCm39)	I118N	probably benign	Het
Depdc1b	A	G	13: 108,525,094 (GRCm39)	E483G	probably null	Het
Dhh	T	C	15: 98,795,976 (GRCm39)	S60G	probably damaging	Het
Dpagt1	T	C	9: 44,237,446 (GRCm39)		probably benign	Het
Dpy19l1	T	C	9: 24,359,102 (GRCm39)	K162R	probably damaging	Het
Dynap	T	C	18: 70,375,093 (GRCm39)	T41A	possibly damaging	Het
Dyrk4	T	C	6: 126,871,783 (GRCm39)	N162D	probably benign	Het
Efcab3	A	G	11: 104,954,415 (GRCm39)	K5090E	probably benign	Het
Eml5	T	A	12: 98,776,829 (GRCm39)	T1429S	probably damaging	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fer1l5	A	G	1: 36,456,897 (GRCm39)	D1625G	probably benign	Het
Frmd4b	G	A	6: 97,283,477 (GRCm39)	T484M	possibly damaging	Het
Hhat	T	C	1: 192,431,250 (GRCm39)	E33G	probably damaging	Het
Ifngr1	A	G	10: 19,485,360 (GRCm39)	D453G	probably damaging	Het
Itpr3	T	A	17: 27,335,628 (GRCm39)	I2246N	possibly damaging	Het
Larp4b	T	G	13: 9,195,537 (GRCm39)	I212S	probably damaging	Het
Lilra5	T	C	7: 4,241,636 (GRCm39)	V145A	probably benign	Het
Map1lc3a	A	G	2: 155,118,926 (GRCm39)	K30R	possibly damaging	Het
Mapk8ip1	A	G	2: 92,215,166 (GRCm39)	Y652H	probably damaging	Het
Med23	A	G	10: 24,780,334 (GRCm39)	E994G	probably benign	Het
Mep1b	A	T	18: 21,208,714 (GRCm39)	D30V	probably benign	Het
Mki67	C	A	7: 135,297,364 (GRCm39)	A2557S	possibly damaging	Het
Mki67	T	C	7: 135,300,129 (GRCm39)	D1635G	probably benign	Het
Msantd5f6	A	G	4: 73,320,167 (GRCm39)	L204P	probably damaging	Het
Mup3	A	T	4: 62,003,472 (GRCm39)	D132E	probably benign	Het
Myo15b	A	T	11: 115,781,780 (GRCm39)	T2830S	unknown	Het
Myocd	T	A	11: 65,069,287 (GRCm39)	H979L	probably damaging	Het
Nvl	A	T	1: 180,958,001 (GRCm39)	N260K	probably benign	Het
Or2a57	T	A	6: 43,213,056 (GRCm39)	H171Q	probably benign	Het
Or2d2b	T	A	7: 106,705,664 (GRCm39)	T135S	probably benign	Het
Or4d2	T	A	11: 87,784,645 (GRCm39)	Y35F	probably damaging	Het
Pdha2	C	A	3: 140,917,649 (GRCm39)		probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Phtf2	A	C	5: 20,969,249 (GRCm39)	V687G	probably damaging	Het
Plagl2	C	T	2: 153,074,346 (GRCm39)	G185D	possibly damaging	Het
Ppp1r3e	A	G	14: 55,113,946 (GRCm39)	V242A	probably benign	Het
Proser3	A	G	7: 30,239,458 (GRCm39)	S549P	possibly damaging	Het
Prrc2c	A	G	1: 162,533,630 (GRCm39)	V995A	unknown	Het
Rsf1	CG	CGTCGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn11a	T	C	9: 119,587,565 (GRCm39)	E1393G	probably damaging	Het
Sipa1l1	T	A	12: 82,479,612 (GRCm39)	S1432T	possibly damaging	Het
Slc10a5	G	C	3: 10,399,670 (GRCm39)	A330G	probably benign	Het
Slc2a5	A	C	4: 150,224,270 (GRCm39)	N293H	probably damaging	Het
Spmap1	A	T	11: 97,663,572 (GRCm39)	Y93N	probably damaging	Het
Spmip4	C	T	6: 50,561,391 (GRCm39)	R176H	probably damaging	Het
Sptbn1	T	C	11: 30,073,869 (GRCm39)	E1400G	possibly damaging	Het
Stk33	T	A	7: 108,935,280 (GRCm39)	I171F	probably damaging	Het
Syne1	G	A	10: 5,161,945 (GRCm39)	H5450Y	probably benign	Het
Tbcd	G	C	11: 121,387,679 (GRCm39)		probably benign	Het
Tkt	T	A	14: 30,288,884 (GRCm39)		probably benign	Het
Tpra1	A	T	6: 88,888,726 (GRCm39)	M303L	probably benign	Het
Ubr3	T	C	2: 69,752,651 (GRCm39)	S303P	probably damaging	Het
Uqcrc1	T	C	9: 108,776,721 (GRCm39)	F341S	probably damaging	Het
Vmn1r223	T	C	13: 23,434,248 (GRCm39)	S281P	possibly damaging	Het
Vmn1r32	C	A	6: 66,530,189 (GRCm39)	A196S	probably benign	Het
Zfp644	G	T	5: 106,785,467 (GRCm39)	T360N	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
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	103,717,671 (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
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'- TGTTCAGCGGCCATGTTTC -3'
(R):5'- GGAGAGTGCATCCATCTGTG -3'

Sequencing Primer
(F):5'- CTTGGCATCCCTGAGGTCAC -3'
(R):5'- CATCTGTGGAGTACTAGTTTTGAAC -3'

Posted On

2021-10-11