Mutagenetix > Incidental Mutation

Incidental Mutation 'R0568:Ptpn13'

46256

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

038759-MU

Accession Numbers

Essential gene?

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

Stock #

R0568 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103573058-103746169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103637631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 173 (V173A)

Ref Sequence

ENSEMBL: ENSMUSP00000048119 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000048957
AA Change: V173A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048119
Gene: ENSMUSG00000034573
AA Change: V173A

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 damaging
Transcript: ENSMUST00000196014
AA Change: V173A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143571
Gene: ENSMUSG00000034573
AA Change: V173A

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

0.2585

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	G	A	4: 49,451,003 (GRCm39)	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,189,594 (GRCm39)		probably benign	Het
Adamtsl1	T	C	4: 86,336,789 (GRCm39)	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,114,377 (GRCm39)		probably null	Het
Bag2	T	C	1: 33,786,059 (GRCm39)	M88V	probably benign	Het
Brms1l	A	G	12: 55,908,173 (GRCm39)		probably null	Het
C8b	A	G	4: 104,650,577 (GRCm39)	I462V	probably benign	Het
Cfap410	C	T	10: 77,818,872 (GRCm39)	T181I	possibly damaging	Het
Cfap410	A	T	10: 77,820,381 (GRCm39)	*250C	probably null	Het
Cnpy4	A	G	5: 138,190,839 (GRCm39)	E167G	probably damaging	Het
Copa	T	C	1: 171,939,704 (GRCm39)	V624A	possibly damaging	Het
Gm4553	G	T	7: 141,719,357 (GRCm39)	P24T	unknown	Het
Gna12	A	G	5: 140,746,638 (GRCm39)	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,240,083 (GRCm39)	E302*	probably null	Het
Hmcn2	C	A	2: 31,305,248 (GRCm39)	S3140R	probably benign	Het
Hspa4	A	G	11: 53,153,703 (GRCm39)		probably benign	Het
Hspbp1	A	T	7: 4,687,431 (GRCm39)	L60*	probably null	Het
Lats1	A	T	10: 7,588,292 (GRCm39)	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,559,442 (GRCm39)		probably benign	Het
Lrrc3	T	A	10: 77,737,419 (GRCm39)	R6W	probably damaging	Het
Lxn	C	T	3: 67,368,335 (GRCm39)	A143T	probably damaging	Het
Mga	T	C	2: 119,765,903 (GRCm39)	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,386,835 (GRCm39)	I286N	probably damaging	Het
Or4c107	T	A	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Pitpnm2	A	G	5: 124,278,580 (GRCm39)		probably benign	Het
Plxna2	T	C	1: 194,433,694 (GRCm39)	V581A	probably benign	Het
Polr3d	A	T	14: 70,676,959 (GRCm39)	H378Q	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syngr3	C	T	17: 24,905,555 (GRCm39)	A140T	probably benign	Het
Tent2	A	G	13: 93,291,500 (GRCm39)	S381P	probably benign	Het
Tprn	T	C	2: 25,154,333 (GRCm39)	V545A	probably damaging	Het
Trim66	T	C	7: 109,059,902 (GRCm39)	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,285,224 (GRCm39)		probably benign	Het
Vps9d1	A	G	8: 123,973,487 (GRCm39)	V432A	probably damaging	Het
Zswim9	A	T	7: 12,994,952 (GRCm39)	D401E	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
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
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'- TCATCTCCTGTGAACATTCGCTGTG -3'
(R):5'- TCAAGTGTCAGGAAGCAGCAGACC -3'

Sequencing Primer
(F):5'- GTTCCTGAGATCCCATTAAGGC -3'
(R):5'- CTGAAATCACTCTGGGTGAATGC -3'

Posted On

2013-06-11