Mutagenetix > Incidental Mutation

Incidental Mutation 'R9715:Ptpro'

730397

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9715 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137229317-137440231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137345108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 38 (N38I)

Ref Sequence

ENSEMBL: ENSMUSP00000076364 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably damaging
Transcript: ENSMUST00000077115
AA Change: N38I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: N38I

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: ENSMUST00000167679
AA Change: N38I

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: N38I

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	C	T	7: 45,629,359 (GRCm39)	V1323I	probably damaging	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Cbr3	A	G	16: 93,481,941 (GRCm39)	D99G	probably benign	Het
Ccdc17	T	A	4: 116,455,090 (GRCm39)	L215Q	probably damaging	Het
Cep350	A	G	1: 155,751,107 (GRCm39)	Y2022H	probably benign	Het
Cimip2c	G	C	5: 30,641,261 (GRCm39)	D170H	possibly damaging	Het
Cnbd2	T	C	2: 156,183,547 (GRCm39)	S338P	probably benign	Het
D5Ertd579e	A	T	5: 36,787,029 (GRCm39)	V113D	possibly damaging	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Ephb1	T	C	9: 101,848,384 (GRCm39)	N679S	probably damaging	Het
Faxc	T	C	4: 21,993,307 (GRCm39)	I317T	probably damaging	Het
Fgd5	T	C	6: 91,965,290 (GRCm39)	Y508H	possibly damaging	Het
Foxd2	G	T	4: 114,765,195 (GRCm39)	A275E	unknown	Het
Fut9	C	A	4: 25,620,679 (GRCm39)	S45I	probably benign	Het
Gm5148	T	C	3: 37,768,801 (GRCm39)	N140D	unknown	Het
Gpr37l1	C	T	1: 135,089,391 (GRCm39)	G225S	probably damaging	Het
Gramd1c	G	A	16: 43,825,840 (GRCm39)	S107L	possibly damaging	Het
Gtpbp2	A	G	17: 46,478,301 (GRCm39)	D483G		Het
Ik	G	A	18: 36,886,566 (GRCm39)	R346H	probably benign	Het
Ino80e	A	T	7: 126,461,098 (GRCm39)	Y50N	unknown	Het
Irag1	A	T	7: 110,470,640 (GRCm39)	S898T	possibly damaging	Het
Kbtbd2	A	G	6: 56,756,566 (GRCm39)	V390A	probably benign	Het
Limch1	A	C	5: 67,156,360 (GRCm39)	N276H	probably damaging	Het
Negr1	T	G	3: 156,774,936 (GRCm39)		probably null	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp14	G	A	7: 106,781,626 (GRCm39)	M274I	probably benign	Het
Nr1d1	T	C	11: 98,662,943 (GRCm39)	I17V	probably benign	Het
Or10ad1b	T	A	15: 98,124,902 (GRCm39)	D210V	probably damaging	Het
Or4k35	T	C	2: 111,100,623 (GRCm39)	I30V	probably benign	Het
Or5p64	A	G	7: 107,855,198 (GRCm39)	I49T	probably benign	Het
Ppip5k2	A	G	1: 97,677,312 (GRCm39)	V334A		Het
Ppp1r9a	G	A	6: 5,045,936 (GRCm39)	V467I	probably damaging	Het
Ppp2r2c	A	G	5: 37,097,488 (GRCm39)	I225V	possibly damaging	Het
Scn2a	C	A	2: 65,579,149 (GRCm39)	Q1495K	possibly damaging	Het
Scn7a	A	T	2: 66,519,902 (GRCm39)	Y1001N	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Sh3bgrl2	T	A	9: 83,430,513 (GRCm39)	M1K	probably null	Het
Slc25a12	C	T	2: 71,109,899 (GRCm39)	V516M	probably benign	Het
Sptbn4	A	G	7: 27,091,000 (GRCm39)	L1402P	probably damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,278,612 (GRCm39)		probably benign	Het
Svop	A	G	5: 114,198,169 (GRCm39)	S135P	probably benign	Het
Sycp2	G	T	2: 178,035,957 (GRCm39)	D243E	probably damaging	Het
Tcerg1	T	C	18: 42,706,413 (GRCm39)	F1030S	probably damaging	Het
Tecta	T	A	9: 42,286,596 (GRCm39)	N687Y	probably damaging	Het
Tep1	A	T	14: 51,081,759 (GRCm39)	H1230Q		Het
Tfap2b	T	C	1: 19,284,373 (GRCm39)	S94P	probably damaging	Het
Tll2	C	A	19: 41,092,238 (GRCm39)	G533V	probably damaging	Het
Vmn2r55	A	G	7: 12,402,061 (GRCm39)	V409A	probably damaging	Het
Wdr41	A	G	13: 95,145,373 (GRCm39)	E194G	probably damaging	Het
Zan	G	T	5: 137,398,817 (GRCm39)	S4182R	unknown	Het
Zfpl1	T	C	19: 6,134,074 (GRCm39)	Y40C	probably damaging	Het
Znrf3	C	A	11: 5,232,454 (GRCm39)	R257L	possibly 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
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
Z1177:Ptpro	UTSW	6	137,355,138 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCATGAGATGGGCAAACTGAC -3'
(R):5'- TGGTGACCACATTCCCGTTG -3'

Sequencing Primer
(F):5'- CAAACTGACATCTGGTGTGTGAC -3'
(R):5'- CGTTGACTACCACCAGAGTG -3'

Posted On

2022-10-06