Mutagenetix > Incidental Mutation

Incidental Mutation 'R4377:Ptpro'

325146

Institutional Source

Beutler Lab

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

MMRRC Submission

041676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137229317-137440231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137357264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 252 (F252I)

Ref Sequence

ENSEMBL: ENSMUSP00000076364 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably benign
Transcript: ENSMUST00000077115
AA Change: F252I

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: F252I

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: F252I

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: F252I

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: ENSMUST00000203010

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,467 (GRCm39)	M681V	probably damaging	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
BC034090	A	G	1: 155,108,196 (GRCm39)	C384R	probably benign	Het
Ccdc180	T	A	4: 45,941,877 (GRCm39)	L1380Q	probably damaging	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cenpp	A	G	13: 49,647,907 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,923,680 (GRCm39)	V12A	probably benign	Het
Dapk1	A	G	13: 60,867,498 (GRCm39)	D235G	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Frmd3	T	A	4: 74,046,535 (GRCm39)		probably null	Het
Gart	G	A	16: 91,430,982 (GRCm39)	A360V	probably benign	Het
Gm7251	T	A	13: 49,958,676 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Itgal	A	G	7: 126,927,453 (GRCm39)	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,202 (GRCm39)	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,379,082 (GRCm39)	V138M	probably benign	Het
Kit	T	C	5: 75,801,159 (GRCm39)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Krt33a	T	C	11: 99,903,253 (GRCm39)	E263G	possibly damaging	Het
Mark2	T	C	19: 7,268,054 (GRCm39)	I50V	possibly damaging	Het
Mug2	G	T	6: 122,047,966 (GRCm39)		probably null	Het
Mvk	A	G	5: 114,591,022 (GRCm39)		probably benign	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naa15	T	C	3: 51,355,786 (GRCm39)	I229T	possibly damaging	Het
Napb	A	C	2: 148,574,184 (GRCm39)		probably null	Het
Ncoa3	T	G	2: 165,896,417 (GRCm39)	L440R	possibly damaging	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or8g52	T	A	9: 39,631,103 (GRCm39)	F193L	probably benign	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plekha5	T	C	6: 140,525,191 (GRCm39)	Y376H	probably damaging	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Ptprc	A	T	1: 137,995,663 (GRCm39)	M982K	probably benign	Het
Pusl1	A	G	4: 155,975,037 (GRCm39)	V188A	probably benign	Het
Rad54l2	A	G	9: 106,570,421 (GRCm39)	S1300P	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Rtel1	T	A	2: 180,997,589 (GRCm39)	H1104Q	probably damaging	Het
Setbp1	T	C	18: 78,903,137 (GRCm39)	R177G	probably damaging	Het
Skint6	T	C	4: 113,093,715 (GRCm39)	T143A	possibly damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Zfp583	A	G	7: 6,320,680 (GRCm39)	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
IGL02308:Ptpro	APN	6	137,431,698 (GRCm39)	missense	probably benign	0.37
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
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

Predicted Primers

PCR Primer
(F):5'- CTGATAATTGTGTTGGACTCATGAG -3'
(R):5'- GCACTGACAAAGTCCTCCTC -3'

Sequencing Primer
(F):5'- CTCTTCCACAGCACCATATC -3'
(R):5'- AAAGTCCTCCTCGTTTTCAGGGG -3'

Posted On

2015-07-06