Mutagenetix > Incidental Mutation

Incidental Mutation 'R2431:Ptpro'

250400

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

040392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 137443585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 183 (W183*)

Ref Sequence

ENSEMBL: ENSMUSP00000144870 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably null
Transcript: ENSMUST00000077115
AA Change: W1032*

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: W1032*

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: ENSMUST00000167002
AA Change: W211*

SMART Domains

Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: W211*

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 null
Transcript: ENSMUST00000167679
AA Change: W1004*

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: W1004*

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 null
Transcript: ENSMUST00000203914
AA Change: W183*

SMART Domains

Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: W183*

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	T	C	11: 97,452,404 (GRCm38)	V504A	probably benign	Het
Atr	T	G	9: 95,862,892 (GRCm38)	N87K	probably benign	Het
Auts2	A	T	5: 132,259,048 (GRCm38)	L32*	probably null	Het
Bptf	A	G	11: 107,047,240 (GRCm38)	V2675A	possibly damaging	Het
Brdt	C	T	5: 107,378,015 (GRCm38)		probably null	Het
Ccdc162	T	C	10: 41,569,845 (GRCm38)	K444E	probably benign	Het
Cnot1	T	C	8: 95,774,652 (GRCm38)	D96G	probably damaging	Het
Cpq	C	A	15: 33,594,119 (GRCm38)	Y425*	probably null	Het
Eri1	A	G	8: 35,476,478 (GRCm38)	Y221H	probably damaging	Het
Fbln2	A	G	6: 91,269,973 (GRCm38)	E1065G	probably damaging	Het
Focad	T	C	4: 88,331,027 (GRCm38)	V837A	unknown	Het
Ica1	G	A	6: 8,658,265 (GRCm38)	T284I	probably benign	Het
Isg15	C	T	4: 156,200,701 (GRCm38)		probably null	Het
Ltbp4	T	C	7: 27,319,676 (GRCm38)	T1073A	possibly damaging	Het
Mmp16	A	T	4: 18,054,491 (GRCm38)	R332S	probably benign	Het
Myg1	G	C	15: 102,337,736 (GRCm38)	G349R	probably damaging	Het
Olfr1444	T	C	19: 12,862,606 (GRCm38)	V277A	probably damaging	Het
Olfr447	T	C	6: 42,912,012 (GRCm38)	L163S	probably damaging	Het
Olfr703	T	C	7: 106,845,391 (GRCm38)	V260A	possibly damaging	Het
Olfr834	A	G	9: 18,988,003 (GRCm38)	N5S	probably damaging	Het
Piezo2	T	C	18: 63,245,624 (GRCm38)	H78R	possibly damaging	Het
Pkd1l1	T	C	11: 8,947,197 (GRCm38)	N121D	probably damaging	Het
Pkhd1	T	C	1: 20,201,165 (GRCm38)	T3055A	possibly damaging	Het
Ppp5c	C	T	7: 17,015,425 (GRCm38)	V160M	probably damaging	Het
Ptpn23	G	A	9: 110,386,279 (GRCm38)	R1438*	probably null	Het
Pygm	T	C	19: 6,393,785 (GRCm38)	M592T	probably damaging	Het
Qdpr	A	G	5: 45,444,730 (GRCm38)	V68A	probably damaging	Het
Rfc5	A	C	5: 117,385,458 (GRCm38)	S92A	probably damaging	Het
Ripor3	T	C	2: 167,989,795 (GRCm38)	Q362R	probably benign	Het
Ror1	G	A	4: 100,441,155 (GRCm38)	C575Y	probably damaging	Het
Skint9	T	A	4: 112,389,267 (GRCm38)	D216V	probably damaging	Het
Sox6	T	C	7: 115,550,007 (GRCm38)		probably null	Het
Ugp2	A	T	11: 21,329,025 (GRCm38)	V387D	probably damaging	Het
Umodl1	T	C	17: 30,992,088 (GRCm38)	S747P	possibly damaging	Het
Vtcn1	A	T	3: 100,825,577 (GRCm38)	I7F	possibly damaging	Het
Zfp507	C	T	7: 35,795,402 (GRCm38)	R72H	probably benign	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
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'- GTGTGTGATCCTCTGCCAAC -3'
(R):5'- TTCAAAAGAATGATGCAGCCC -3'

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

Posted On

2014-11-12