Mutagenetix > Incidental Mutation

Incidental Mutation 'R1145:Ptpro'

165068

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

039218-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1145 (G1)

Quality Score

208

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: 99.0%
3x: 97.9%
10x: 94.8%
20x: 88.4%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,668,276 (GRCm38)	S1257P	possibly damaging	Het
AC159637.1	C	T	12: 93,928,280 (GRCm38)		noncoding transcript	Het
Agk	T	C	6: 40,352,438 (GRCm38)		probably benign	Het
Arhgef5	C	A	6: 43,273,088 (GRCm38)	Q258K	possibly damaging	Het
Armc4	G	T	18: 7,268,436 (GRCm38)	P361Q	probably damaging	Het
C1s1	C	A	6: 124,540,800 (GRCm38)	D74Y	probably damaging	Het
Cpxm2	A	G	7: 132,057,648 (GRCm38)	S497P	probably damaging	Het
Ctsj	C	T	13: 61,002,543 (GRCm38)	S214N	probably damaging	Het
Dnali1	T	C	4: 125,065,547 (GRCm38)	S18G	possibly damaging	Het
Eif4g3	C	T	4: 138,165,818 (GRCm38)	T959M	probably damaging	Het
Eml6	A	G	11: 29,777,430 (GRCm38)	F1231L	probably benign	Het
Glp1r	T	C	17: 30,919,432 (GRCm38)	V160A	probably benign	Het
Gm11143	T	G	6: 69,617,408 (GRCm38)	V60G	unknown	Het
Hmcn1	A	T	1: 150,679,607 (GRCm38)		probably null	Het
Inpp5k	T	C	11: 75,633,459 (GRCm38)		probably benign	Het
Krtdap	A	T	7: 30,789,550 (GRCm38)		probably benign	Het
Ldb2	A	G	5: 44,532,674 (GRCm38)	L201P	probably damaging	Het
Loxl4	A	T	19: 42,608,555 (GRCm38)		probably benign	Het
Otud6b	T	A	4: 14,812,532 (GRCm38)	T272S	probably benign	Het
Pnpla2	T	C	7: 141,455,416 (GRCm38)	Y44H	probably damaging	Het
Sel1l3	C	T	5: 53,131,827 (GRCm38)	R884H	probably damaging	Het
Slc43a2	T	A	11: 75,566,989 (GRCm38)	Y363*	probably null	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 55,016,461 (GRCm38)		probably benign	Het
Tap2	C	A	17: 34,215,940 (GRCm38)	D652E	possibly damaging	Het
Unc80	T	C	1: 66,472,088 (GRCm38)	V85A	probably damaging	Het
Vwa3a	T	C	7: 120,793,343 (GRCm38)	Y802H	probably damaging	Het
Zc3h4	G	A	7: 16,416,913 (GRCm38)	R60Q	possibly damaging	Het
Zfp385a	A	T	15: 103,317,943 (GRCm38)		probably benign	Het

Other mutations in Ptpro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ptpro	APN	6	137,394,909 (GRCm38)	critical splice donor site	probably null
IGL00844:Ptpro	APN	6	137,414,239 (GRCm38)	missense	probably damaging	1.00
IGL00983:Ptpro	APN	6	137,418,248 (GRCm38)	missense	probably benign	0.01
IGL01073:Ptpro	APN	6	137,377,088 (GRCm38)	missense	probably damaging	1.00
IGL01832:Ptpro	APN	6	137,393,668 (GRCm38)	missense	possibly damaging	0.93
IGL02308:Ptpro	APN	6	137,454,700 (GRCm38)	missense	probably benign	0.37
IGL02387:Ptpro	APN	6	137,410,980 (GRCm38)	missense	probably damaging	0.96
IGL02605:Ptpro	APN	6	137,380,318 (GRCm38)	missense	probably benign	0.02
IGL02666:Ptpro	APN	6	137,378,059 (GRCm38)	missense	probably damaging	0.96
IGL03275:Ptpro	APN	6	137,450,006 (GRCm38)	missense	probably damaging	1.00
Brau	UTSW	6	137,454,598 (GRCm38)	missense	probably damaging	1.00
court	UTSW	6	137,393,675 (GRCm38)	nonsense	probably null
Hoff	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
Jester	UTSW	6	137,449,917 (GRCm38)	missense	probably damaging	1.00
mann	UTSW	6	137,411,116 (GRCm38)	splice site	probably null
R0017:Ptpro	UTSW	6	137,416,827 (GRCm38)	missense	probably benign	0.03
R0017:Ptpro	UTSW	6	137,416,827 (GRCm38)	missense	probably benign	0.03
R0020:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0022:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0023:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0024:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0094:Ptpro	UTSW	6	137,386,352 (GRCm38)	missense	probably benign	0.08
R0094:Ptpro	UTSW	6	137,386,352 (GRCm38)	missense	probably benign	0.08
R0103:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0106:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0316:Ptpro	UTSW	6	137,376,989 (GRCm38)	missense	possibly damaging	0.81
R0427:Ptpro	UTSW	6	137,368,296 (GRCm38)	missense	possibly damaging	0.81
R0456:Ptpro	UTSW	6	137,414,230 (GRCm38)	missense	probably benign	0.04
R0536:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0537:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0552:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0555:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0664:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0708:Ptpro	UTSW	6	137,386,253 (GRCm38)	missense	probably benign	0.26
R0730:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0735:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0738:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0786:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0811:Ptpro	UTSW	6	137,368,079 (GRCm38)	missense	probably benign	0.00
R0812:Ptpro	UTSW	6	137,368,079 (GRCm38)	missense	probably benign	0.00
R0881:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R0973:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1145:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1146:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1147:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1259:Ptpro	UTSW	6	137,392,741 (GRCm38)	missense	probably damaging	0.98
R1340:Ptpro	UTSW	6	137,441,081 (GRCm38)	missense	possibly damaging	0.95
R1381:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1382:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1385:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1396:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1401:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1416:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1422:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1448:Ptpro	UTSW	6	137,441,116 (GRCm38)	missense	probably damaging	1.00
R1513:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1518:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1526:Ptpro	UTSW	6	137,461,726 (GRCm38)	missense	probably damaging	1.00
R1540:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1571:Ptpro	UTSW	6	137,378,130 (GRCm38)	missense	probably benign
R1573:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1587:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1588:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1649:Ptpro	UTSW	6	137,444,017 (GRCm38)	nonsense	probably null
R1700:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1701:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1745:Ptpro	UTSW	6	137,400,645 (GRCm38)	missense	probably benign	0.03
R1772:Ptpro	UTSW	6	137,430,743 (GRCm38)	missense	probably damaging	1.00
R1911:Ptpro	UTSW	6	137,400,619 (GRCm38)	splice site	probably benign
R1958:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R1967:Ptpro	UTSW	6	137,416,865 (GRCm38)	missense	probably benign	0.38
R2025:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2026:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2040:Ptpro	UTSW	6	137,386,164 (GRCm38)	splice site	probably benign
R2115:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2117:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R2130:Ptpro	UTSW	6	137,411,116 (GRCm38)	splice site	probably null
R2161:Ptpro	UTSW	6	137,449,887 (GRCm38)	missense	probably benign	0.01
R2431:Ptpro	UTSW	6	137,443,585 (GRCm38)	nonsense	probably null
R2915:Ptpro	UTSW	6	137,414,241 (GRCm38)	start gained	probably benign
R2988:Ptpro	UTSW	6	137,443,599 (GRCm38)	nonsense	probably null
R3772:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3773:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3795:Ptpro	UTSW	6	137,380,309 (GRCm38)	missense	probably benign
R3885:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3886:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3887:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3888:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R3893:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R4032:Ptpro	UTSW	6	137,461,742 (GRCm38)	missense	probably damaging	1.00
R4133:Ptpro	UTSW	6	137,420,372 (GRCm38)	missense	probably damaging	1.00
R4377:Ptpro	UTSW	6	137,380,266 (GRCm38)	missense	probably benign	0.26
R4455:Ptpro	UTSW	6	137,393,659 (GRCm38)	missense	probably damaging	1.00
R4613:Ptpro	UTSW	6	137,416,836 (GRCm38)	nonsense	probably null
R4827:Ptpro	UTSW	6	137,442,710 (GRCm38)	missense	probably damaging	1.00
R4863:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R4870:Ptpro	UTSW	6	137,377,132 (GRCm38)	missense	probably damaging	0.96
R4910:Ptpro	UTSW	6	137,368,338 (GRCm38)	missense	probably damaging	0.99
R4932:Ptpro	UTSW	6	137,411,105 (GRCm38)	nonsense	probably null
R4941:Ptpro	UTSW	6	137,392,765 (GRCm38)	missense	probably damaging	1.00
R4989:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5009:Ptpro	UTSW	6	137,377,132 (GRCm38)	missense	probably damaging	0.96
R5032:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5033:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5162:Ptpro	UTSW	6	137,443,594 (GRCm38)	missense	probably damaging	1.00
R5393:Ptpro	UTSW	6	137,380,224 (GRCm38)	missense	probably benign	0.04
R5423:Ptpro	UTSW	6	137,442,707 (GRCm38)	missense	probably damaging	1.00
R5782:Ptpro	UTSW	6	137,399,498 (GRCm38)	missense	possibly damaging	0.80
R6103:Ptpro	UTSW	6	137,400,706 (GRCm38)	missense	possibly damaging	0.76
R6239:Ptpro	UTSW	6	137,380,608 (GRCm38)	missense	probably benign	0.28
R6488:Ptpro	UTSW	6	137,393,675 (GRCm38)	nonsense	probably null
R6494:Ptpro	UTSW	6	137,382,642 (GRCm38)	missense	probably benign	0.20
R6746:Ptpro	UTSW	6	137,394,823 (GRCm38)	missense	probably damaging	1.00
R6763:Ptpro	UTSW	6	137,418,281 (GRCm38)	splice site	probably null
R6888:Ptpro	UTSW	6	137,380,200 (GRCm38)	missense	probably benign	0.30
R6983:Ptpro	UTSW	6	137,449,917 (GRCm38)	missense	probably damaging	1.00
R7019:Ptpro	UTSW	6	137,380,478 (GRCm38)	missense	probably benign
R7218:Ptpro	UTSW	6	137,454,598 (GRCm38)	missense	probably damaging	1.00
R7236:Ptpro	UTSW	6	137,368,337 (GRCm38)	missense	probably damaging	1.00
R7299:Ptpro	UTSW	6	137,441,144 (GRCm38)	critical splice donor site	probably null
R7381:Ptpro	UTSW	6	137,399,561 (GRCm38)	missense	possibly damaging	0.93
R7493:Ptpro	UTSW	6	137,382,649 (GRCm38)	missense	probably benign	0.01
R7733:Ptpro	UTSW	6	137,414,286 (GRCm38)	nonsense	probably null
R7793:Ptpro	UTSW	6	137,416,820 (GRCm38)	missense	probably damaging	0.99
R7804:Ptpro	UTSW	6	137,399,601 (GRCm38)	splice site	probably null
R7833:Ptpro	UTSW	6	137,416,863 (GRCm38)	nonsense	probably null
R7859:Ptpro	UTSW	6	137,392,807 (GRCm38)	critical splice donor site	probably null
R7873:Ptpro	UTSW	6	137,430,739 (GRCm38)	missense	probably benign	0.44
R8042:Ptpro	UTSW	6	137,416,883 (GRCm38)	missense	possibly damaging	0.71
R8859:Ptpro	UTSW	6	137,426,784 (GRCm38)	nonsense	probably null
R8979:Ptpro	UTSW	6	137,368,142 (GRCm38)	missense	probably benign
R9138:Ptpro	UTSW	6	137,411,115 (GRCm38)	critical splice donor site	probably null
R9309:Ptpro	UTSW	6	137,454,658 (GRCm38)	missense	probably damaging	1.00
R9420:Ptpro	UTSW	6	137,443,935 (GRCm38)	missense	probably benign	0.08
R9612:Ptpro	UTSW	6	137,414,320 (GRCm38)	missense	probably benign	0.31
R9625:Ptpro	UTSW	6	137,394,875 (GRCm38)	missense	probably damaging	1.00
R9697:Ptpro	UTSW	6	137,386,290 (GRCm38)	missense	probably damaging	1.00
R9715:Ptpro	UTSW	6	137,368,110 (GRCm38)	missense	probably damaging	0.96
Z1177:Ptpro	UTSW	6	137,378,140 (GRCm38)	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

2014-03-28