Mutagenetix > Incidental Mutation

Incidental Mutation 'R0786:Ptpro'

76854

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

038966-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137252319-137463233 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137443594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1007 (V1007D)

Ref Sequence

ENSEMBL: ENSMUSP00000127112 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

probably damaging
Transcript: ENSMUST00000077115
AA Change: V1035D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: V1035D

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: ENSMUST00000167002
AA Change: V214D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: V214D

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 damaging
Transcript: ENSMUST00000167679
AA Change: V1007D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: V1007D

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 damaging
Transcript: ENSMUST00000203914
AA Change: V186D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: V186D

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

Meta Mutation Damage Score

0.9197

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.6%
20x: 92.6%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrb3	T	C	8: 27,226,852		probably benign	Het
Atg2b	T	C	12: 105,636,508	H1592R	probably benign	Het
Bpifb1	C	T	2: 154,202,661	A16V	probably benign	Het
Casc1	A	G	6: 145,181,757		probably null	Het
Cep57	T	A	9: 13,809,870	Y271F	probably damaging	Het
Cfap54	A	T	10: 92,967,535	N1548K	possibly damaging	Het
Chrna6	A	T	8: 27,408,380	D103E	probably benign	Het
Clec12b	T	C	6: 129,380,688	N69S	probably benign	Het
Col27a1	T	C	4: 63,291,578		probably null	Het
Cwh43	T	A	5: 73,408,183	Y30*	probably null	Het
Dsg4	T	C	18: 20,449,372		probably null	Het
Efna3	T	C	3: 89,316,573	N103S	probably damaging	Het
Efr3a	A	G	15: 65,853,551	D532G	possibly damaging	Het
Fam227a	A	T	15: 79,626,268	V395D	probably benign	Het
Fes	T	A	7: 80,386,920	D93V	probably damaging	Het
Gbp3	T	A	3: 142,570,971	M510K	possibly damaging	Het
Gpr12	A	T	5: 146,583,504	S44T	probably damaging	Het
Gpr179	T	C	11: 97,343,274	N583S	probably damaging	Het
Hipk1	T	C	3: 103,744,304	T1093A	probably benign	Het
Hspb1	T	C	5: 135,889,243	L148P	probably damaging	Het
Kirrel3	A	G	9: 35,034,865	N640S	probably damaging	Het
Mak	G	T	13: 41,046,069	Q365K	probably benign	Het
Melk	A	G	4: 44,303,649	Y14C	unknown	Het
Myh7	T	C	14: 54,992,873	M1V	probably null	Het
Nsmf	A	G	2: 25,060,510	Y330C	probably damaging	Het
Parp14	A	G	16: 35,840,802	F1592S	possibly damaging	Het
Pnpla6	A	T	8: 3,523,317	I394F	probably benign	Het
Ppl	T	C	16: 5,089,054	R1126G	probably damaging	Het
Prss8	C	T	7: 127,926,474	R291Q	probably benign	Het
Rasgrp1	G	T	2: 117,300,499	D155E	probably benign	Het
Recql5	T	C	11: 115,895,802	I563V	probably benign	Het
Rhbg	C	T	3: 88,244,568	M394I	probably benign	Het
Rnf130	A	G	11: 50,087,437	D275G	probably damaging	Het
Smg9	T	C	7: 24,420,864	F421S	probably benign	Het
Tgm2	T	C	2: 158,124,381	E451G	probably damaging	Het
Tle1	T	A	4: 72,199,361	T21S	probably damaging	Het
Tmc5	T	C	7: 118,627,210	I266T	possibly damaging	Het
Tmigd3	T	A	3: 105,917,002	C96S	probably damaging	Het
Trdn	A	T	10: 33,305,081	T361S	probably benign	Het
Vgll3	A	T	16: 65,860,682	Q261L	probably benign	Het
Vmn2r104	A	T	17: 20,042,725	I158K	probably benign	Het
Zfp964	A	G	8: 69,664,081	K444E	possibly damaging	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
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
R6488:Ptpro	UTSW	6	137393675	nonsense	probably null
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
Z1177:Ptpro	UTSW	6	137378140	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGTGTGATCCTCTGCCAACTTC -3'
(R):5'- CCTTTCAAAAGAATGATGCAGCCCC -3'

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

Posted On

2013-10-16