Mutagenetix > Incidental Mutation

Incidental Mutation 'R0708:Ptpro'

63850

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

038891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0708 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137386253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 462 (S462P)

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably benign
Transcript: ENSMUST00000077115
AA Change: S462P

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: S462P

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: ENSMUST00000167679
AA Change: S462P

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: S462P

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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.3%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brdt	A	T	5: 107,358,900 (GRCm38)	K450*	probably null	Het
Cand2	G	A	6: 115,803,805 (GRCm38)	E1217K	probably damaging	Het
Col9a1	A	T	1: 24,237,261 (GRCm38)	Q750L	possibly damaging	Het
Dnah6	A	T	6: 73,212,622 (GRCm38)	S14R	probably benign	Het
Enox1	A	G	14: 77,592,912 (GRCm38)	N319S	probably benign	Het
Frs2	G	A	10: 117,074,092 (GRCm38)	T455M	probably damaging	Het
Glra3	C	T	8: 56,125,364 (GRCm38)		probably benign	Het
Gmppa	T	C	1: 75,442,574 (GRCm38)	F375S	probably damaging	Het
Hectd4	G	A	5: 121,286,463 (GRCm38)		probably null	Het
Hgf	C	A	5: 16,566,763 (GRCm38)	C129*	probably null	Het
Insc	T	A	7: 114,845,146 (GRCm38)	V456E	probably damaging	Het
Ints14	G	A	9: 64,983,984 (GRCm38)	V416I	probably benign	Het
Klk1b11	T	C	7: 43,997,728 (GRCm38)	F29L	possibly damaging	Het
Ogfod1	C	T	8: 94,039,045 (GRCm38)	L79F	possibly damaging	Het
Olfr926	T	A	9: 38,877,275 (GRCm38)	V33E	probably damaging	Het
Orc3	A	T	4: 34,597,368 (GRCm38)	I224N	probably damaging	Het
Papss2	T	C	19: 32,637,216 (GRCm38)	F111L	probably damaging	Het
Poc1b	A	G	10: 99,155,130 (GRCm38)	D291G	probably null	Het
Prl8a8	A	T	13: 27,511,545 (GRCm38)	M72K	possibly damaging	Het
Ptpn7	C	A	1: 135,134,547 (GRCm38)	T77K	probably damaging	Het
Rab3gap2	T	A	1: 185,249,926 (GRCm38)	S392T	probably damaging	Het
Sema4d	A	G	13: 51,712,719 (GRCm38)	V245A	probably benign	Het
Sgcb	A	T	5: 73,640,882 (GRCm38)		probably null	Het
Slc24a1	T	A	9: 64,947,890 (GRCm38)	K578N	unknown	Het
Sptbn1	A	T	11: 30,114,739 (GRCm38)	V1920E	probably damaging	Het
Tecr	A	T	8: 83,573,109 (GRCm38)	I101N	probably damaging	Het
Tectb	T	C	19: 55,191,552 (GRCm38)	F277L	probably benign	Het
Tgs1	T	A	4: 3,586,152 (GRCm38)	L343H	probably benign	Het
Thbs4	C	A	13: 92,773,186 (GRCm38)	G368W	probably damaging	Het
Zfp558	T	C	9: 18,456,827 (GRCm38)	S222G	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGCTGACACTACTATTGC -3'
(R):5'- TCCCATCACCACAGGCTGAATTTC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- GAATTTCAAGCGGCCTTCAG -3'

Posted On

2013-07-30