Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00334:Ptpro'

5357

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptpro

Ensembl Gene

ENSMUSG00000030223

Gene Name

protein tyrosine phosphatase, receptor type, O

Synonyms

Ptpn15, PTP-oc, GLEPP1, PTP-U2, PTP-BK, PTP-phi, D28, PTPROt

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00334

Quality Score

Status

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 137394909 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077115] [ENSMUST00000167679]

AlphaFold

E9Q612

Predicted Effect

probably null
Transcript: ENSMUST00000077115

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	269	291	N/A	INTRINSIC
FN3	443	528	1.07e-1	SMART
FN3	540	626	7.07e-2	SMART
FN3	642	722	4.47e1	SMART
FN3	733	812	5.92e-4	SMART
transmembrane domain	831	853	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC
PTPc	947	1207	1.43e-127	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000167679

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	269	291	N/A	INTRINSIC
FN3	443	528	1.07e-1	SMART
FN3	540	626	7.07e-2	SMART
FN3	642	722	4.47e1	SMART
FN3	733	812	5.92e-4	SMART
transmembrane domain	831	853	N/A	INTRINSIC
PTPc	919	1179	1.43e-127	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for one allele display impaired glomerular filtration due to podocyte structural anomalies and a predisposition for hypertension. Mice homozygous for a second allele exhibit susceptibility to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arsb	T	G	13: 93,939,279 (GRCm38)	H423Q	probably benign	Het
Bltp2	T	A	11: 78,269,574 (GRCm38)	L620I	possibly damaging	Het
Ces1f	T	C	8: 93,267,992 (GRCm38)	T264A	probably benign	Het
Clcn6	C	A	4: 148,017,902 (GRCm38)		probably null	Het
Cyb5r3	C	A	15: 83,160,404 (GRCm38)	A138S	probably benign	Het
Cyp3a57	A	T	5: 145,371,024 (GRCm38)	N197Y	probably damaging	Het
Dctn2	A	G	10: 127,277,690 (GRCm38)		probably benign	Het
Dnmt1	C	T	9: 20,910,270 (GRCm38)	A1197T	possibly damaging	Het
Dock2	T	C	11: 34,704,661 (GRCm38)	D436G	probably damaging	Het
Drd4	A	G	7: 141,292,183 (GRCm38)	N49S	probably damaging	Het
Dst	T	A	1: 34,166,292 (GRCm38)	V521D	probably damaging	Het
Eif5b	T	C	1: 38,041,719 (GRCm38)	S714P	probably damaging	Het
Glis3	A	G	19: 28,540,264 (GRCm38)	I178T	probably damaging	Het
Gm11565	T	A	11: 99,915,195 (GRCm38)	C138S	possibly damaging	Het
H1f8	T	A	6: 115,947,627 (GRCm38)		probably benign	Het
Hdx	T	A	X: 111,582,881 (GRCm38)	I623F	probably benign	Het
Huwe1	T	G	X: 151,885,627 (GRCm38)	L843V	probably damaging	Het
Hyal2	T	C	9: 107,570,405 (GRCm38)	Y86H	probably damaging	Het
Irf7	A	T	7: 141,264,640 (GRCm38)	S157T	probably benign	Het
Jmjd4	T	A	11: 59,455,314 (GRCm38)	M331K	probably damaging	Het
Kdm2a	A	T	19: 4,356,898 (GRCm38)	D112E	possibly damaging	Het
Mamdc2	A	C	19: 23,378,774 (GRCm38)	Y103*	probably null	Het
Map2k3	T	C	11: 60,943,215 (GRCm38)	V77A	possibly damaging	Het
Mideas	G	A	12: 84,172,855 (GRCm38)	R442*	probably null	Het
Mprip	T	A	11: 59,748,591 (GRCm38)	D403E	probably benign	Het
Mutyh	T	A	4: 116,819,319 (GRCm38)	V496D	possibly damaging	Het
Nbeal1	T	C	1: 60,281,883 (GRCm38)	V2051A	probably damaging	Het
Nbeal1	T	C	1: 60,328,103 (GRCm38)	L2575P	probably damaging	Het
Or10j5	T	G	1: 172,957,591 (GRCm38)	S265R	possibly damaging	Het
Or51a6	T	C	7: 102,955,104 (GRCm38)	K173E	probably benign	Het
Pcdhb6	T	A	18: 37,334,224 (GRCm38)	I66N	probably damaging	Het
Pck2	T	C	14: 55,542,641 (GRCm38)	Y89H	probably benign	Het
Poglut3	C	A	9: 53,398,028 (GRCm38)		probably benign	Het
Poglut3	T	A	9: 53,398,030 (GRCm38)		probably benign	Het
Polr3e	C	T	7: 120,940,811 (GRCm38)	Q594*	probably null	Het
Rfx4	A	G	10: 84,780,053 (GRCm38)	K28E	possibly damaging	Het
Shox2	T	C	3: 66,981,441 (GRCm38)	E39G	possibly damaging	Het
Slc22a16	A	T	10: 40,573,934 (GRCm38)	D122V	probably benign	Het
Smr3a	A	C	5: 88,008,060 (GRCm38)		probably benign	Het
Spmip8	G	A	8: 95,313,048 (GRCm38)	R31H	probably damaging	Het
Taf4	G	T	2: 179,976,625 (GRCm38)	L8M	unknown	Het
Tbkbp1	T	A	11: 97,137,648 (GRCm38)		probably benign	Het
Tmem120b	G	T	5: 123,115,167 (GRCm38)	E210D	probably damaging	Het
Tmem120b	A	T	5: 123,115,166 (GRCm38)		probably null	Het
Trim21	C	T	7: 102,559,598 (GRCm38)	V305M	probably damaging	Het
Ube4a	A	T	9: 44,948,141 (GRCm38)	L353Q	probably damaging	Het
Zfyve1	A	T	12: 83,574,798 (GRCm38)	N274K	probably benign	Het

Other mutations in Ptpro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Ptpro	APN	6	137,414,239 (GRCm38)	missense	probably damaging	1.00
IGL00983:Ptpro	APN	6	137,418,248 (GRCm38)	missense	probably benign	0.01
IGL01073:Ptpro	APN	6	137,377,088 (GRCm38)	missense	probably damaging	1.00
IGL01832:Ptpro	APN	6	137,393,668 (GRCm38)	missense	possibly damaging	0.93
IGL02308:Ptpro	APN	6	137,454,700 (GRCm38)	missense	probably benign	0.37
IGL02387:Ptpro	APN	6	137,410,980 (GRCm38)	missense	probably damaging	0.96
IGL02605:Ptpro	APN	6	137,380,318 (GRCm38)	missense	probably benign	0.02
IGL02666:Ptpro	APN	6	137,378,059 (GRCm38)	missense	probably damaging	0.96
IGL03275:Ptpro	APN	6	137,450,006 (GRCm38)	missense	probably damaging	1.00
Brau	UTSW	6	137,454,598 (GRCm38)	missense	probably damaging	1.00
court	UTSW	6	137,393,675 (GRCm38)	nonsense	probably null
Hoff	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
Jester	UTSW	6	137,449,917 (GRCm38)	missense	probably damaging	1.00
mann	UTSW	6	137,411,116 (GRCm38)	splice site	probably null
R0017:Ptpro	UTSW	6	137,416,827 (GRCm38)	missense	probably benign	0.03
R0017:Ptpro	UTSW	6	137,416,827 (GRCm38)	missense	probably benign	0.03
R0020:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0022:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0023:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0024:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0094:Ptpro	UTSW	6	137,386,352 (GRCm38)	missense	probably benign	0.08
R0094:Ptpro	UTSW	6	137,386,352 (GRCm38)	missense	probably benign	0.08
R0103:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0106:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0316:Ptpro	UTSW	6	137,376,989 (GRCm38)	missense	possibly damaging	0.81
R0427:Ptpro	UTSW	6	137,368,296 (GRCm38)	missense	possibly damaging	0.81
R0456:Ptpro	UTSW	6	137,414,230 (GRCm38)	missense	probably benign	0.04
R0536:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0537:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0552:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0555:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0664:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0708:Ptpro	UTSW	6	137,386,253 (GRCm38)	missense	probably benign	0.26
R0730:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0735:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0738:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0786:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0811:Ptpro	UTSW	6	137,368,079 (GRCm38)	missense	probably benign	0.00
R0812:Ptpro	UTSW	6	137,368,079 (GRCm38)	missense	probably benign	0.00
R0881:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0973:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1259:Ptpro	UTSW	6	137,392,741 (GRCm38)	missense	probably damaging	0.98
R1340:Ptpro	UTSW	6	137,441,081 (GRCm38)	missense	possibly damaging	0.95
R1381:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1382:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1385:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1396:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1401:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1416:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1422:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1448:Ptpro	UTSW	6	137,441,116 (GRCm38)	missense	probably damaging	1.00
R1513:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1518:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1526:Ptpro	UTSW	6	137,461,726 (GRCm38)	missense	probably damaging	1.00
R1540:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1571:Ptpro	UTSW	6	137,378,130 (GRCm38)	missense	probably benign
R1573:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1587:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1588:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1649:Ptpro	UTSW	6	137,444,017 (GRCm38)	nonsense	probably null
R1700:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1701:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1745:Ptpro	UTSW	6	137,400,645 (GRCm38)	missense	probably benign	0.03
R1772:Ptpro	UTSW	6	137,430,743 (GRCm38)	missense	probably damaging	1.00
R1911:Ptpro	UTSW	6	137,400,619 (GRCm38)	splice site	probably benign
R1958:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1967:Ptpro	UTSW	6	137,416,865 (GRCm38)	missense	probably benign	0.38
R2025:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2026:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2040:Ptpro	UTSW	6	137,386,164 (GRCm38)	splice site	probably benign
R2115:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2117:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2130:Ptpro	UTSW	6	137,411,116 (GRCm38)	splice site	probably null
R2161:Ptpro	UTSW	6	137,449,887 (GRCm38)	missense	probably benign	0.01
R2431:Ptpro	UTSW	6	137,443,585 (GRCm38)	nonsense	probably null
R2915:Ptpro	UTSW	6	137,414,241 (GRCm38)	start gained	probably benign
R2988:Ptpro	UTSW	6	137,443,599 (GRCm38)	nonsense	probably null
R3772:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3773:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3795:Ptpro	UTSW	6	137,380,309 (GRCm38)	missense	probably benign
R3885:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3886:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3887:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3888:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3893:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R4032:Ptpro	UTSW	6	137,461,742 (GRCm38)	missense	probably damaging	1.00
R4133:Ptpro	UTSW	6	137,420,372 (GRCm38)	missense	probably damaging	1.00
R4377:Ptpro	UTSW	6	137,380,266 (GRCm38)	missense	probably benign	0.26
R4455:Ptpro	UTSW	6	137,393,659 (GRCm38)	missense	probably damaging	1.00
R4613:Ptpro	UTSW	6	137,416,836 (GRCm38)	nonsense	probably null
R4827:Ptpro	UTSW	6	137,442,710 (GRCm38)	missense	probably damaging	1.00
R4863:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R4870:Ptpro	UTSW	6	137,377,132 (GRCm38)	missense	probably damaging	0.96
R4910:Ptpro	UTSW	6	137,368,338 (GRCm38)	missense	probably damaging	0.99
R4932:Ptpro	UTSW	6	137,411,105 (GRCm38)	nonsense	probably null
R4941:Ptpro	UTSW	6	137,392,765 (GRCm38)	missense	probably damaging	1.00
R4989:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5009:Ptpro	UTSW	6	137,377,132 (GRCm38)	missense	probably damaging	0.96
R5032:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5033:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5162:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5393:Ptpro	UTSW	6	137,380,224 (GRCm38)	missense	probably benign	0.04
R5423:Ptpro	UTSW	6	137,442,707 (GRCm38)	missense	probably damaging	1.00
R5782:Ptpro	UTSW	6	137,399,498 (GRCm38)	missense	possibly damaging	0.80
R6103:Ptpro	UTSW	6	137,400,706 (GRCm38)	missense	possibly damaging	0.76
R6239:Ptpro	UTSW	6	137,380,608 (GRCm38)	missense	probably benign	0.28
R6488:Ptpro	UTSW	6	137,393,675 (GRCm38)	nonsense	probably null
R6494:Ptpro	UTSW	6	137,382,642 (GRCm38)	missense	probably benign	0.20
R6746:Ptpro	UTSW	6	137,394,823 (GRCm38)	missense	probably damaging	1.00
R6763:Ptpro	UTSW	6	137,418,281 (GRCm38)	splice site	probably null
R6888:Ptpro	UTSW	6	137,380,200 (GRCm38)	missense	probably benign	0.30
R6983:Ptpro	UTSW	6	137,449,917 (GRCm38)	missense	probably damaging	1.00
R7019:Ptpro	UTSW	6	137,380,478 (GRCm38)	missense	probably benign
R7218:Ptpro	UTSW	6	137,454,598 (GRCm38)	missense	probably damaging	1.00
R7236:Ptpro	UTSW	6	137,368,337 (GRCm38)	missense	probably damaging	1.00
R7299:Ptpro	UTSW	6	137,441,144 (GRCm38)	critical splice donor site	probably null
R7381:Ptpro	UTSW	6	137,399,561 (GRCm38)	missense	possibly damaging	0.93
R7493:Ptpro	UTSW	6	137,382,649 (GRCm38)	missense	probably benign	0.01
R7733:Ptpro	UTSW	6	137,414,286 (GRCm38)	nonsense	probably null
R7793:Ptpro	UTSW	6	137,416,820 (GRCm38)	missense	probably damaging	0.99
R7804:Ptpro	UTSW	6	137,399,601 (GRCm38)	splice site	probably null
R7833:Ptpro	UTSW	6	137,416,863 (GRCm38)	nonsense	probably null
R7859:Ptpro	UTSW	6	137,392,807 (GRCm38)	critical splice donor site	probably null
R7873:Ptpro	UTSW	6	137,430,739 (GRCm38)	missense	probably benign	0.44
R8042:Ptpro	UTSW	6	137,416,883 (GRCm38)	missense	possibly damaging	0.71
R8859:Ptpro	UTSW	6	137,426,784 (GRCm38)	nonsense	probably null
R8979:Ptpro	UTSW	6	137,368,142 (GRCm38)	missense	probably benign
R9138:Ptpro	UTSW	6	137,411,115 (GRCm38)	critical splice donor site	probably null
R9309:Ptpro	UTSW	6	137,454,658 (GRCm38)	missense	probably damaging	1.00
R9420:Ptpro	UTSW	6	137,443,935 (GRCm38)	missense	probably benign	0.08
R9612:Ptpro	UTSW	6	137,414,320 (GRCm38)	missense	probably benign	0.31
R9625:Ptpro	UTSW	6	137,394,875 (GRCm38)	missense	probably damaging	1.00
R9697:Ptpro	UTSW	6	137,386,290 (GRCm38)	missense	probably damaging	1.00
R9715:Ptpro	UTSW	6	137,368,110 (GRCm38)	missense	probably damaging	0.96
Z1177:Ptpro	UTSW	6	137,378,140 (GRCm38)	missense	probably damaging	1.00

Posted On

2012-04-20