Mutagenetix > Incidental Mutation

Incidental Mutation 'R1745:Ptpro'

193919

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

039777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137229317-137440231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137377643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 698 (T698A)

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: T698A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: T698A

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: T698A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: T698A

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

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

98% (54/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,623,359 (GRCm39)	V851E	probably benign	Het
Adam28	A	G	14: 68,870,620 (GRCm39)	I351T	probably benign	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Ap2a1	T	C	7: 44,556,369 (GRCm39)	E285G	probably damaging	Het
Arfgef1	A	C	1: 10,243,480 (GRCm39)	I1023R	probably damaging	Het
Atp2c2	G	A	8: 120,451,833 (GRCm39)	V133I	probably benign	Het
Bpifb6	A	G	2: 153,753,403 (GRCm39)	T401A	possibly damaging	Het
Capn3	G	A	2: 120,320,170 (GRCm39)	V283M	possibly damaging	Het
Chd6	A	T	2: 160,823,587 (GRCm39)	V1261E	probably damaging	Het
Col22a1	C	T	15: 71,878,636 (GRCm39)	A174T	probably damaging	Het
Crnn	T	C	3: 93,054,198 (GRCm39)	V27A	probably benign	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkd	T	C	1: 87,859,766 (GRCm39)		probably null	Het
Diaph3	A	G	14: 87,203,996 (GRCm39)	L554P	probably damaging	Het
Ephb4	A	T	5: 137,358,696 (GRCm39)	H293L	probably benign	Het
Erbin	G	T	13: 103,975,957 (GRCm39)	H646N	probably damaging	Het
Faiml	T	C	9: 99,116,511 (GRCm39)	N60D	probably benign	Het
Fem1al	A	G	11: 29,774,723 (GRCm39)	S245P	probably benign	Het
Flot1	A	G	17: 36,135,552 (GRCm39)	E102G	probably damaging	Het
Fryl	G	A	5: 73,190,204 (GRCm39)		probably benign	Het
Gad1-ps	A	T	10: 99,281,386 (GRCm39)		noncoding transcript	Het
Gtf3c3	A	G	1: 54,473,371 (GRCm39)	S81P	probably damaging	Het
Hs1bp3	C	T	12: 8,371,690 (GRCm39)	Q91*	probably null	Het
Igf1r	T	C	7: 67,819,661 (GRCm39)	C324R	probably damaging	Het
Il23r	G	A	6: 67,443,275 (GRCm39)	T276I	probably damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kctd1	A	T	18: 15,196,263 (GRCm39)		probably benign	Het
Kmt2b	A	T	7: 30,285,275 (GRCm39)	M539K	possibly damaging	Het
Man2b1	T	A	8: 85,820,563 (GRCm39)	F617I	probably damaging	Het
Med15	G	A	16: 17,473,570 (GRCm39)		probably benign	Het
Myo9b	A	G	8: 71,806,691 (GRCm39)	K1543R	probably damaging	Het
N4bp2	A	G	5: 65,948,165 (GRCm39)	Y265C	probably benign	Het
N4bp2l2	A	T	5: 150,585,424 (GRCm39)	N185K	probably benign	Het
Nkx2-1	A	G	12: 56,580,529 (GRCm39)	M137T	probably benign	Het
Or51q1c	A	G	7: 103,653,270 (GRCm39)	T269A	probably benign	Het
Prickle2	A	T	6: 92,353,574 (GRCm39)	Y631N	probably damaging	Het
Rapgef3	T	C	15: 97,648,059 (GRCm39)	I690V	probably benign	Het
Rnf44	G	A	13: 54,830,005 (GRCm39)	R271W	probably damaging	Het
Rundc3a	GAGCC	GAGCCAGCC	11: 102,291,739 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,805,153 (GRCm39)	Y904H	probably damaging	Het
Suz12	T	C	11: 79,912,922 (GRCm39)	L322P	probably damaging	Het
Tnfsf13	G	A	11: 69,575,973 (GRCm39)	A38V	probably benign	Het
Topbp1	G	A	9: 103,186,044 (GRCm39)	R62H	probably benign	Het
Tor1aip1	G	T	1: 155,906,180 (GRCm39)		probably null	Het
Trpv4	A	T	5: 114,771,215 (GRCm39)	V438E	probably damaging	Het
Tsku	A	T	7: 98,001,386 (GRCm39)	V315E	possibly damaging	Het
Ttc38	T	C	15: 85,717,373 (GRCm39)	L16P	probably damaging	Het
Vmn1r170	A	G	7: 23,305,759 (GRCm39)	I54V	probably damaging	Het
Vmn1r71	T	C	7: 10,482,196 (GRCm39)	D98G	probably benign	Het
Wdfy3	A	T	5: 102,096,795 (GRCm39)	D334E	probably damaging	Het
Zfhx3	T	A	8: 109,682,494 (GRCm39)	F3311Y	unknown	Het
Zswim9	A	G	7: 13,003,482 (GRCm39)	S123P	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
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

Predicted Primers

PCR Primer
(F):5'- ATGGAGACCCCAGGGCTTGAAAAC -3'
(R):5'- CCCCTGCTGAATAAGGGATGCAAAC -3'

Sequencing Primer
(F):5'- CATTGGAAAACTGTCCATGCTG -3'
(R):5'- AGGGATGCAAACGCTCCTTC -3'

Posted On

2014-05-23