Mutagenetix > Incidental Mutation

Incidental Mutation 'R6488:Ptpro'

522505

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 137393675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 591 (Y591*)

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably null
Transcript: ENSMUST00000077115
AA Change: Y591*

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: Y591*

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: ENSMUST00000167679
AA Change: Y591*

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: Y591*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

96% (65/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,625,874	Q334*	probably null	Het
4933406M09Rik	T	A	1: 134,390,888	V466D	probably damaging	Het
Abhd15	T	C	11: 77,516,022	F275S	possibly damaging	Het
Adamts7	A	G	9: 90,171,482	T27A	probably benign	Het
Ankar	A	G	1: 72,681,808		probably null	Het
Ap2a2	T	C	7: 141,602,307	V183A	probably benign	Het
Arhgef37	G	A	18: 61,518,052	A134V	probably benign	Het
Col3a1	C	A	1: 45,331,534		probably benign	Het
Cxcr5	A	G	9: 44,513,979	V127A	probably damaging	Het
Eif4b	T	A	15: 102,092,987		probably benign	Het
Ext2	A	G	2: 93,806,085	V228A	probably damaging	Het
Fam83h	T	C	15: 76,002,053	E1145G	possibly damaging	Het
Fcgbp	A	G	7: 28,093,538	D989G	probably damaging	Het
Fchsd1	T	C	18: 37,967,268		probably null	Het
Fcnb	T	C	2: 28,078,289	K219E	probably damaging	Het
Fndc7	T	C	3: 108,870,575	E355G	probably damaging	Het
Glis3	T	C	19: 28,298,853	H746R	probably benign	Het
Glod4	A	G	11: 76,237,785	V74A	probably damaging	Het
Gm10436	T	C	12: 88,177,587	H152R	possibly damaging	Het
Gpc6	T	C	14: 117,964,713	I445T	possibly damaging	Het
Hdlbp	T	C	1: 93,428,224	D337G	probably damaging	Het
Hnf1a	T	C	5: 114,955,961	T190A	probably benign	Het
Iqgap1	G	C	7: 80,730,326	T1129R	probably benign	Het
Kcnc3	T	C	7: 44,595,182	F299L	possibly damaging	Het
Kif1bp	C	A	10: 62,559,658		probably null	Het
Kif26b	T	C	1: 178,529,573	V4A	unknown	Het
Klra9	G	T	6: 130,179,032	Y253*	probably null	Het
Krtap4-1	G	T	11: 99,628,077	R36S	unknown	Het
Lman1l	A	G	9: 57,620,643	S10P	possibly damaging	Het
Lrpprc	T	C	17: 84,751,353	N693S	probably damaging	Het
Lrrc49	A	T	9: 60,602,633	F157L	probably damaging	Het
Mettl22	T	C	16: 8,487,361	F293L	probably damaging	Het
Mga	T	A	2: 119,960,907	N2424K	probably damaging	Het
Mpdz	G	T	4: 81,287,733	A1784E	probably benign	Het
Mpv17l	G	A	16: 13,946,588		probably null	Het
Mtus1	G	A	8: 41,041,508	S29L	possibly damaging	Het
Myo15	A	T	11: 60,478,487	H691L	possibly damaging	Het
Nbea	T	C	3: 55,717,843	T2276A	probably damaging	Het
Npas4	A	G	19: 4,985,983	S718P	probably damaging	Het
Ntrk2	T	A	13: 58,861,356	N320K	possibly damaging	Het
Nup214	T	A	2: 31,991,372	I414N	possibly damaging	Het
Oas2	A	G	5: 120,738,363	F15S	probably damaging	Het
Olfr1474	T	C	19: 13,471,617	Y216H	probably damaging	Het
Olfr625-ps1	T	C	7: 103,683,078	I110T	probably damaging	Het
Pabpc6	A	G	17: 9,669,599	Y8H	probably damaging	Het
Pbx1	T	A	1: 168,191,395	N294Y	probably damaging	Het
Pcyt1a	T	C	16: 32,467,081	M190T	probably damaging	Het
Pogk	T	C	1: 166,399,422	I387V	possibly damaging	Het
Ppp6r2	T	C	15: 89,268,538	L294P	probably benign	Het
Ptprn2	T	A	12: 116,872,038	I331K	probably benign	Het
Ptprz1	T	A	6: 23,001,517	L1202*	probably null	Het
Rab37	A	G	11: 115,157,963	T73A	probably benign	Het
Rad51ap2	T	G	12: 11,458,160	S694R	possibly damaging	Het
Rb1cc1	T	A	1: 6,270,727	D148E	probably damaging	Het
Rraga	G	A	4: 86,576,328	R137H	probably damaging	Het
Serpinf2	A	G	11: 75,437,503	V73A	probably benign	Het
Siglec1	T	C	2: 131,081,307	N506S	probably damaging	Het
Slc35e4	T	C	11: 3,912,602	T196A	possibly damaging	Het
St6galnac3	C	T	3: 153,411,757	A110T	probably damaging	Het
Thsd1	T	C	8: 22,243,717	V260A	probably benign	Het
Tpbg	T	A	9: 85,844,485	V169D	possibly damaging	Het
Trav16n	A	G	14: 53,351,585	E106G	probably benign	Het
Vmn1r219	T	C	13: 23,162,965	I108T	probably benign	Het
Vmn2r50	T	C	7: 10,037,717	I686V	probably damaging	Het
Zdhhc20	C	T	14: 57,840,832	R329K	probably benign	Het
Zfp64	A	G	2: 168,935,209		probably null	Het
Zfp941	C	T	7: 140,812,750	R232H	probably benign	Het

Other mutations in Ptpro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ptpro	APN	6	137394909	critical splice donor site	probably null
IGL00844:Ptpro	APN	6	137414239	missense	probably damaging	1.00
IGL00983:Ptpro	APN	6	137418248	missense	probably benign	0.01
IGL01073:Ptpro	APN	6	137377088	missense	probably damaging	1.00
IGL01832:Ptpro	APN	6	137393668	missense	possibly damaging	0.93
IGL02308:Ptpro	APN	6	137454700	missense	probably benign	0.37
IGL02387:Ptpro	APN	6	137410980	missense	probably damaging	0.96
IGL02605:Ptpro	APN	6	137380318	missense	probably benign	0.02
IGL02666:Ptpro	APN	6	137378059	missense	probably damaging	0.96
IGL03275:Ptpro	APN	6	137450006	missense	probably damaging	1.00
Brau	UTSW	6	137454598	missense	probably damaging	1.00
court	UTSW	6	137393675	nonsense	probably null
Hoff	UTSW	6	137443594	missense	probably damaging	1.00
Jester	UTSW	6	137449917	missense	probably damaging	1.00
mann	UTSW	6	137411116	splice site	probably null
R0017:Ptpro	UTSW	6	137416827	missense	probably benign	0.03
R0017:Ptpro	UTSW	6	137416827	missense	probably benign	0.03
R0020:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0022:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0023:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0024:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0094:Ptpro	UTSW	6	137386352	missense	probably benign	0.08
R0094:Ptpro	UTSW	6	137386352	missense	probably benign	0.08
R0103:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0106:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0316:Ptpro	UTSW	6	137376989	missense	possibly damaging	0.81
R0427:Ptpro	UTSW	6	137368296	missense	possibly damaging	0.81
R0456:Ptpro	UTSW	6	137414230	missense	probably benign	0.04
R0536:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0537:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0552:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0555:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0664:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0708:Ptpro	UTSW	6	137386253	missense	probably benign	0.26
R0730:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0735:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0738:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0786:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0811:Ptpro	UTSW	6	137368079	missense	probably benign	0.00
R0812:Ptpro	UTSW	6	137368079	missense	probably benign	0.00
R0881:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R0973:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1259:Ptpro	UTSW	6	137392741	missense	probably damaging	0.98
R1340:Ptpro	UTSW	6	137441081	missense	possibly damaging	0.95
R1381:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1382:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1385:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1396:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1401:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1416:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1422:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1448:Ptpro	UTSW	6	137441116	missense	probably damaging	1.00
R1513:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1518:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1526:Ptpro	UTSW	6	137461726	missense	probably damaging	1.00
R1540:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1571:Ptpro	UTSW	6	137378130	missense	probably benign
R1573:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1587:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1588:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1649:Ptpro	UTSW	6	137444017	nonsense	probably null
R1700:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1701:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1745:Ptpro	UTSW	6	137400645	missense	probably benign	0.03
R1772:Ptpro	UTSW	6	137430743	missense	probably damaging	1.00
R1911:Ptpro	UTSW	6	137400619	splice site	probably benign
R1958:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R1967:Ptpro	UTSW	6	137416865	missense	probably benign	0.38
R2025:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R2026:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R2040:Ptpro	UTSW	6	137386164	splice site	probably benign
R2115:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R2117:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R2130:Ptpro	UTSW	6	137411116	splice site	probably null
R2161:Ptpro	UTSW	6	137449887	missense	probably benign	0.01
R2431:Ptpro	UTSW	6	137443585	nonsense	probably null
R2915:Ptpro	UTSW	6	137414241	start gained	probably benign
R2988:Ptpro	UTSW	6	137443599	nonsense	probably null
R3772:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3773:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3795:Ptpro	UTSW	6	137380309	missense	probably benign
R3885:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3886:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3887:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3888:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R3893:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R4032:Ptpro	UTSW	6	137461742	missense	probably damaging	1.00
R4133:Ptpro	UTSW	6	137420372	missense	probably damaging	1.00
R4377:Ptpro	UTSW	6	137380266	missense	probably benign	0.26
R4455:Ptpro	UTSW	6	137393659	missense	probably damaging	1.00
R4613:Ptpro	UTSW	6	137416836	nonsense	probably null
R4827:Ptpro	UTSW	6	137442710	missense	probably damaging	1.00
R4863:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R4870:Ptpro	UTSW	6	137377132	missense	probably damaging	0.96
R4910:Ptpro	UTSW	6	137368338	missense	probably damaging	0.99
R4932:Ptpro	UTSW	6	137411105	nonsense	probably null
R4941:Ptpro	UTSW	6	137392765	missense	probably damaging	1.00
R4989:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R5009:Ptpro	UTSW	6	137377132	missense	probably damaging	0.96
R5032:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R5033:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R5162:Ptpro	UTSW	6	137443594	missense	probably damaging	1.00
R5393:Ptpro	UTSW	6	137380224	missense	probably benign	0.04
R5423:Ptpro	UTSW	6	137442707	missense	probably damaging	1.00
R5782:Ptpro	UTSW	6	137399498	missense	possibly damaging	0.80
R6103:Ptpro	UTSW	6	137400706	missense	possibly damaging	0.76
R6239:Ptpro	UTSW	6	137380608	missense	probably benign	0.28
R6494:Ptpro	UTSW	6	137382642	missense	probably benign	0.20
R6746:Ptpro	UTSW	6	137394823	missense	probably damaging	1.00
R6763:Ptpro	UTSW	6	137418281	splice site	probably null
R6888:Ptpro	UTSW	6	137380200	missense	probably benign	0.30
R6983:Ptpro	UTSW	6	137449917	missense	probably damaging	1.00
R7019:Ptpro	UTSW	6	137380478	missense	probably benign
R7218:Ptpro	UTSW	6	137454598	missense	probably damaging	1.00
R7236:Ptpro	UTSW	6	137368337	missense	probably damaging	1.00
R7299:Ptpro	UTSW	6	137441144	critical splice donor site	probably null
R7381:Ptpro	UTSW	6	137399561	missense	possibly damaging	0.93
R7493:Ptpro	UTSW	6	137382649	missense	probably benign	0.01
R7733:Ptpro	UTSW	6	137414286	nonsense	probably null
R7793:Ptpro	UTSW	6	137416820	missense	probably damaging	0.99
R7804:Ptpro	UTSW	6	137399601	splice site	probably null
R7833:Ptpro	UTSW	6	137416863	nonsense	probably null
R7859:Ptpro	UTSW	6	137392807	critical splice donor site	probably null
R7873:Ptpro	UTSW	6	137430739	missense	probably benign	0.44
R8042:Ptpro	UTSW	6	137416883	missense	possibly damaging	0.71
R8859:Ptpro	UTSW	6	137426784	nonsense	probably null
R8979:Ptpro	UTSW	6	137368142	missense	probably benign
R9138:Ptpro	UTSW	6	137411115	critical splice donor site	probably null
R9309:Ptpro	UTSW	6	137454658	missense	probably damaging	1.00
R9420:Ptpro	UTSW	6	137443935	missense	probably benign	0.08
R9612:Ptpro	UTSW	6	137414320	missense	probably benign	0.31
R9625:Ptpro	UTSW	6	137394875	missense	probably damaging	1.00
R9697:Ptpro	UTSW	6	137386290	missense	probably damaging	1.00
R9715:Ptpro	UTSW	6	137368110	missense	probably damaging	0.96
Z1177:Ptpro	UTSW	6	137378140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCAGTTGAAGTCACAGTACAAAC -3'
(R):5'- TCCTTGAGAACATCTGTCTGC -3'

Sequencing Primer
(F):5'- ACACTAATGCCCCTTCCGG -3'
(R):5'- GAGAACATCTGTCTGCCTATGC -3'

Posted On

2018-06-06