Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02308:Ptpro'

287694

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02308

Quality Score

Status

Chromosome

Chromosomal Location

137229317-137440231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137431698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1158 (M1158V)

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077115] [ENSMUST00000167002] [ENSMUST00000167679] [ENSMUST00000203914]

AlphaFold

E9Q612

Predicted Effect

probably benign
Transcript: ENSMUST00000077115
AA Change: M1186V

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: M1186V

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 benign
Transcript: ENSMUST00000167002
AA Change: M365V

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: M365V

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	69	91	N/A	INTRINSIC
PTPc	126	386	1.43e-127	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167679
AA Change: M1158V

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: M1158V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203255

Predicted Effect

probably benign
Transcript: ENSMUST00000203914
AA Change: M337V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: M337V

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
PTPc	98	358	6.1e-130	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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	A	11: 72,093,308 (GRCm39)	S8F	probably damaging	Het
Alpk1	T	A	3: 127,522,931 (GRCm39)	Q37L	probably damaging	Het
Cfap43	T	C	19: 47,736,463 (GRCm39)	T1343A	probably benign	Het
Cmbl	C	A	15: 31,585,554 (GRCm39)	P146Q	possibly damaging	Het
Cog2	A	T	8: 125,259,951 (GRCm39)		probably null	Het
Dgkh	C	A	14: 78,825,016 (GRCm39)	V880L	probably benign	Het
Dop1a	T	C	9: 86,402,141 (GRCm39)	S1114P	probably damaging	Het
Eif5b	T	A	1: 38,080,828 (GRCm39)	V723D	probably damaging	Het
Gdf11	A	G	10: 128,721,253 (GRCm39)	Y314H	probably damaging	Het
Gm10110	T	C	14: 90,135,031 (GRCm39)		noncoding transcript	Het
Gria1	G	A	11: 57,127,750 (GRCm39)	V320I	probably benign	Het
H2-Q10	T	A	17: 35,784,463 (GRCm39)	*326R	probably null	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Lama5	A	G	2: 179,832,120 (GRCm39)		probably benign	Het
Mios	A	G	6: 8,231,269 (GRCm39)	I718V	probably benign	Het
Mroh8	A	G	2: 157,096,893 (GRCm39)	V318A	probably damaging	Het
Nags	A	G	11: 102,039,897 (GRCm39)	*528W	probably null	Het
Nom1	T	A	5: 29,642,708 (GRCm39)	V403D	probably damaging	Het
Npffr2	C	A	5: 89,731,310 (GRCm39)	N413K	probably benign	Het
Olr1	C	T	6: 129,476,860 (GRCm39)	R135K	possibly damaging	Het
Or1e34	A	T	11: 73,779,121 (GRCm39)	Y26N	probably benign	Het
Or52e8	T	A	7: 104,624,665 (GRCm39)	I176F	possibly damaging	Het
Pkhd1	A	G	1: 20,140,600 (GRCm39)		probably null	Het
Sh3d19	A	G	3: 86,001,017 (GRCm39)	K238E	probably damaging	Het
Smarcc2	G	T	10: 128,318,641 (GRCm39)	R641L	probably damaging	Het
Th	T	C	7: 142,451,794 (GRCm39)	E75G	possibly damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Top6bl	T	C	19: 4,713,583 (GRCm39)	K132E	probably damaging	Het
Ttn	G	A	2: 76,724,705 (GRCm39)	R2107*	probably null	Het
Ubr2	A	T	17: 47,245,119 (GRCm39)	C1636S	probably damaging	Het
Vmn2r100	T	A	17: 19,741,597 (GRCm39)	I103K	possibly damaging	Het
Vmn2r88	A	G	14: 51,655,437 (GRCm39)	M558V	possibly damaging	Het
Zzef1	G	A	11: 72,777,573 (GRCm39)	M1801I	probably benign	Het

Other mutations in Ptpro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ptpro	APN	6	137,371,907 (GRCm39)	critical splice donor site	probably null
IGL00844:Ptpro	APN	6	137,391,237 (GRCm39)	missense	probably damaging	1.00
IGL00983:Ptpro	APN	6	137,395,246 (GRCm39)	missense	probably benign	0.01
IGL01073:Ptpro	APN	6	137,354,086 (GRCm39)	missense	probably damaging	1.00
IGL01832:Ptpro	APN	6	137,370,666 (GRCm39)	missense	possibly damaging	0.93
IGL02387:Ptpro	APN	6	137,387,978 (GRCm39)	missense	probably damaging	0.96
IGL02605:Ptpro	APN	6	137,357,316 (GRCm39)	missense	probably benign	0.02
IGL02666:Ptpro	APN	6	137,355,057 (GRCm39)	missense	probably damaging	0.96
IGL03275:Ptpro	APN	6	137,427,004 (GRCm39)	missense	probably damaging	1.00
Brau	UTSW	6	137,431,596 (GRCm39)	missense	probably damaging	1.00
court	UTSW	6	137,370,673 (GRCm39)	nonsense	probably null
Hoff	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
Jester	UTSW	6	137,426,915 (GRCm39)	missense	probably damaging	1.00
mann	UTSW	6	137,388,114 (GRCm39)	splice site	probably null
R0017:Ptpro	UTSW	6	137,393,825 (GRCm39)	missense	probably benign	0.03
R0017:Ptpro	UTSW	6	137,393,825 (GRCm39)	missense	probably benign	0.03
R0020:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0022:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0023:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0024:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0094:Ptpro	UTSW	6	137,363,350 (GRCm39)	missense	probably benign	0.08
R0094:Ptpro	UTSW	6	137,363,350 (GRCm39)	missense	probably benign	0.08
R0103:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0106:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0316:Ptpro	UTSW	6	137,353,987 (GRCm39)	missense	possibly damaging	0.81
R0427:Ptpro	UTSW	6	137,345,294 (GRCm39)	missense	possibly damaging	0.81
R0456:Ptpro	UTSW	6	137,391,228 (GRCm39)	missense	probably benign	0.04
R0536:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0537:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0552:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0555:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0664:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0708:Ptpro	UTSW	6	137,363,251 (GRCm39)	missense	probably benign	0.26
R0730:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0735:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0738:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0786:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0811:Ptpro	UTSW	6	137,345,077 (GRCm39)	missense	probably benign	0.00
R0812:Ptpro	UTSW	6	137,345,077 (GRCm39)	missense	probably benign	0.00
R0881:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R0973:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1259:Ptpro	UTSW	6	137,369,739 (GRCm39)	missense	probably damaging	0.98
R1340:Ptpro	UTSW	6	137,418,079 (GRCm39)	missense	possibly damaging	0.95
R1381:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1382:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1385:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1396:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1401:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1416:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1422:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1448:Ptpro	UTSW	6	137,418,114 (GRCm39)	missense	probably damaging	1.00
R1513:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1518:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1526:Ptpro	UTSW	6	137,438,724 (GRCm39)	missense	probably damaging	1.00
R1540:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1571:Ptpro	UTSW	6	137,355,128 (GRCm39)	missense	probably benign
R1573:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1587:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1588:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1649:Ptpro	UTSW	6	137,421,015 (GRCm39)	nonsense	probably null
R1700:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1701:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1745:Ptpro	UTSW	6	137,377,643 (GRCm39)	missense	probably benign	0.03
R1772:Ptpro	UTSW	6	137,407,741 (GRCm39)	missense	probably damaging	1.00
R1911:Ptpro	UTSW	6	137,377,617 (GRCm39)	splice site	probably benign
R1958:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R1967:Ptpro	UTSW	6	137,393,863 (GRCm39)	missense	probably benign	0.38
R2025:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R2026:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R2040:Ptpro	UTSW	6	137,363,162 (GRCm39)	splice site	probably benign
R2115:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R2117:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R2130:Ptpro	UTSW	6	137,388,114 (GRCm39)	splice site	probably null
R2161:Ptpro	UTSW	6	137,426,885 (GRCm39)	missense	probably benign	0.01
R2431:Ptpro	UTSW	6	137,420,583 (GRCm39)	nonsense	probably null
R2915:Ptpro	UTSW	6	137,391,239 (GRCm39)	start gained	probably benign
R2988:Ptpro	UTSW	6	137,420,597 (GRCm39)	nonsense	probably null
R3772:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3773:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3795:Ptpro	UTSW	6	137,357,307 (GRCm39)	missense	probably benign
R3885:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3886:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3887:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3888:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R3893:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R4032:Ptpro	UTSW	6	137,438,740 (GRCm39)	missense	probably damaging	1.00
R4133:Ptpro	UTSW	6	137,397,370 (GRCm39)	missense	probably damaging	1.00
R4377:Ptpro	UTSW	6	137,357,264 (GRCm39)	missense	probably benign	0.26
R4455:Ptpro	UTSW	6	137,370,657 (GRCm39)	missense	probably damaging	1.00
R4613:Ptpro	UTSW	6	137,393,834 (GRCm39)	nonsense	probably null
R4827:Ptpro	UTSW	6	137,419,708 (GRCm39)	missense	probably damaging	1.00
R4863:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R4870:Ptpro	UTSW	6	137,354,130 (GRCm39)	missense	probably damaging	0.96
R4910:Ptpro	UTSW	6	137,345,336 (GRCm39)	missense	probably damaging	0.99
R4932:Ptpro	UTSW	6	137,388,103 (GRCm39)	nonsense	probably null
R4941:Ptpro	UTSW	6	137,369,763 (GRCm39)	missense	probably damaging	1.00
R4989:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R5009:Ptpro	UTSW	6	137,354,130 (GRCm39)	missense	probably damaging	0.96
R5032:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R5033:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R5162:Ptpro	UTSW	6	137,420,592 (GRCm39)	missense	probably damaging	1.00
R5393:Ptpro	UTSW	6	137,357,222 (GRCm39)	missense	probably benign	0.04
R5423:Ptpro	UTSW	6	137,419,705 (GRCm39)	missense	probably damaging	1.00
R5782:Ptpro	UTSW	6	137,376,496 (GRCm39)	missense	possibly damaging	0.80
R6103:Ptpro	UTSW	6	137,377,704 (GRCm39)	missense	possibly damaging	0.76
R6239:Ptpro	UTSW	6	137,357,606 (GRCm39)	missense	probably benign	0.28
R6488:Ptpro	UTSW	6	137,370,673 (GRCm39)	nonsense	probably null
R6494:Ptpro	UTSW	6	137,359,640 (GRCm39)	missense	probably benign	0.20
R6746:Ptpro	UTSW	6	137,371,821 (GRCm39)	missense	probably damaging	1.00
R6763:Ptpro	UTSW	6	137,395,279 (GRCm39)	splice site	probably null
R6888:Ptpro	UTSW	6	137,357,198 (GRCm39)	missense	probably benign	0.30
R6983:Ptpro	UTSW	6	137,426,915 (GRCm39)	missense	probably damaging	1.00
R7019:Ptpro	UTSW	6	137,357,476 (GRCm39)	missense	probably benign
R7218:Ptpro	UTSW	6	137,431,596 (GRCm39)	missense	probably damaging	1.00
R7236:Ptpro	UTSW	6	137,345,335 (GRCm39)	missense	probably damaging	1.00
R7299:Ptpro	UTSW	6	137,418,142 (GRCm39)	critical splice donor site	probably null
R7381:Ptpro	UTSW	6	137,376,559 (GRCm39)	missense	possibly damaging	0.93
R7493:Ptpro	UTSW	6	137,359,647 (GRCm39)	missense	probably benign	0.01
R7733:Ptpro	UTSW	6	137,391,284 (GRCm39)	nonsense	probably null
R7793:Ptpro	UTSW	6	137,393,818 (GRCm39)	missense	probably damaging	0.99
R7804:Ptpro	UTSW	6	137,376,599 (GRCm39)	splice site	probably null
R7833:Ptpro	UTSW	6	137,393,861 (GRCm39)	nonsense	probably null
R7859:Ptpro	UTSW	6	137,369,805 (GRCm39)	critical splice donor site	probably null
R7873:Ptpro	UTSW	6	137,407,737 (GRCm39)	missense	probably benign	0.44
R8042:Ptpro	UTSW	6	137,393,881 (GRCm39)	missense	possibly damaging	0.71
R8859:Ptpro	UTSW	6	137,403,782 (GRCm39)	nonsense	probably null
R8979:Ptpro	UTSW	6	137,345,140 (GRCm39)	missense	probably benign
R9138:Ptpro	UTSW	6	137,388,113 (GRCm39)	critical splice donor site	probably null
R9309:Ptpro	UTSW	6	137,431,656 (GRCm39)	missense	probably damaging	1.00
R9420:Ptpro	UTSW	6	137,420,933 (GRCm39)	missense	probably benign	0.08
R9612:Ptpro	UTSW	6	137,391,318 (GRCm39)	missense	probably benign	0.31
R9625:Ptpro	UTSW	6	137,371,873 (GRCm39)	missense	probably damaging	1.00
R9697:Ptpro	UTSW	6	137,363,288 (GRCm39)	missense	probably damaging	1.00
R9715:Ptpro	UTSW	6	137,345,108 (GRCm39)	missense	probably damaging	0.96
Z1177:Ptpro	UTSW	6	137,355,138 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16