Mutagenetix > Incidental Mutation

Incidental Mutation 'R5162:Ptpro'

397052

Institutional Source

Beutler Lab

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

MMRRC Submission

042744-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137443594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1007 (V1007D)

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably damaging
Transcript: ENSMUST00000077115
AA Change: V1035D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: V1035D

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 damaging
Transcript: ENSMUST00000167002
AA Change: V214D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: V214D

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 damaging
Transcript: ENSMUST00000167679
AA Change: V1007D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: V1007D

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

probably damaging
Transcript: ENSMUST00000203914
AA Change: V186D

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

SMART Domains

Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: V186D

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
PTPc	98	358	6.1e-130	SMART

Meta Mutation Damage Score

0.9197

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (61/62)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,293,671	T229S	probably benign	Het
Adrb3	T	C	8: 27,227,320	E367G	probably benign	Het
Ak9	T	A	10: 41,357,657	N630K	probably damaging	Het
Atp8b1	T	C	18: 64,561,662	I516M	possibly damaging	Het
Bcor	C	T	X: 12,040,486	R1551Q	probably damaging	Het
Cry1	T	A	10: 85,133,286	H558L	probably benign	Het
Cyp3a57	T	A	5: 145,369,083	W126R	probably damaging	Het
Dhx36	A	T	3: 62,493,780	V355E	probably damaging	Het
Diexf	G	T	1: 193,113,781	T192K	probably damaging	Het
Dpp6	A	G	5: 27,399,015		probably benign	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Enpp2	T	C	15: 54,847,296	D694G	probably benign	Het
Esrp2	T	C	8: 106,133,298	E336G	probably damaging	Het
Faah	A	T	4: 116,000,741		probably benign	Het
Fat1	G	A	8: 45,025,809	G2608R	probably benign	Het
Fbxo8	A	T	8: 56,569,319	Y122F	probably damaging	Het
Fgd5	A	G	6: 92,074,234	D1497G	probably damaging	Het
Fn3krp	T	C	11: 121,429,584	F252L	probably damaging	Het
Fnip2	T	C	3: 79,481,777	Y549C	probably damaging	Het
Gcm2	T	C	13: 41,103,655	N206S	probably benign	Het
Gm4758	A	T	16: 36,312,556	H65L	probably damaging	Het
Grn	C	A	11: 102,430,554		probably benign	Het
H2-T10	T	A	17: 36,118,951		probably null	Het
Henmt1	T	C	3: 108,940,050		probably null	Het
Man1b1	T	A	2: 25,343,353	L246Q	probably damaging	Het
Mdh2	T	C	5: 135,783,475		probably null	Het
Mocos	T	C	18: 24,654,052	F43L	probably damaging	Het
Mpp6	T	A	6: 50,178,515	W259R	probably damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Naip5	T	A	13: 100,223,406	I441F	possibly damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nars2	T	C	7: 97,059,820		probably benign	Het
Ncoa2	A	T	1: 13,175,172	M434K	possibly damaging	Het
Nlrp4g	T	A	9: 124,350,394		noncoding transcript	Het
Olfr459	G	T	6: 41,771,772	H176N	possibly damaging	Het
Olfr761	T	A	17: 37,952,364	Q220L	probably benign	Het
Pars2	A	G	4: 106,654,538	T506A	probably benign	Het
Pkp2	T	C	16: 16,260,336	S481P	probably damaging	Het
Plod3	T	C	5: 136,991,307	W459R	probably damaging	Het
Pramef12	A	T	4: 144,394,912	L181M	probably damaging	Het
Prdm10	A	T	9: 31,340,418	I361F	possibly damaging	Het
Raver2	T	C	4: 101,102,724	C134R	probably damaging	Het
Rnf130	G	C	11: 50,052,895	A123P	probably damaging	Het
Slc29a4	G	A	5: 142,721,452	A517T	possibly damaging	Het
Slc38a6	T	A	12: 73,329,985	S138T	possibly damaging	Het
Spred1	T	C	2: 117,177,621	V336A	possibly damaging	Het
Sptlc3	T	A	2: 139,631,343	M504K	probably benign	Het
Syt11	T	C	3: 88,747,842	D78G	probably damaging	Het
Trim23	C	T	13: 104,181,174	T61I	probably damaging	Het
Tsg101	T	C	7: 46,892,426	T260A	probably damaging	Het
Tyw5	T	C	1: 57,401,459	Y48C	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Vmn2r89	C	A	14: 51,456,163	H323Q	possibly damaging	Het
Vps18	A	G	2: 119,292,942	S117G	probably benign	Het
Zfp93	C	G	7: 24,276,332	Q581E	probably damaging	Het

Other mutations in Ptpro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ptpro	APN	6	137,394,909 (GRCm38)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- GTGATCCTCTGCCAACTTCG -3'
(R):5'- TTTCAAAAGAATGATGCAGCCC -3'

Sequencing Primer
(F):5'- TTCGTCATCAGCAAAAACGG -3'
(R):5'- TGATGCAGCCCCATGAAG -3'

Posted On

2016-06-21