Mutagenetix > Incidental Mutation

Incidental Mutation 'R8042:Ptpro'

618571

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

067479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8042 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137229317-137440231 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137393881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 850 (T850A)

Ref Sequence

ENSEMBL: ENSMUSP00000076364 (fasta)

Gene Model

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

AlphaFold

E9Q612

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077115
AA Change: T850A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000076364
Gene: ENSMUSG00000030223
AA Change: T850A

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

possibly damaging
Transcript: ENSMUST00000167002
AA Change: T29A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131764
Gene: ENSMUSG00000030223
AA Change: T29A

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

possibly damaging
Transcript: ENSMUST00000167679
AA Change: T850A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127112
Gene: ENSMUSG00000030223
AA Change: T850A

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

possibly damaging
Transcript: ENSMUST00000203914
AA Change: T29A

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144870
Gene: ENSMUSG00000030223
AA Change: T29A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (46/46)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 120,002,233 (GRCm39)	Y1582C	possibly damaging	Het
Acly	A	G	11: 100,405,151 (GRCm39)	I339T	probably damaging	Het
Adcy4	A	G	14: 56,012,696 (GRCm39)	V541A	probably benign	Het
Arhgef3	T	A	14: 27,084,766 (GRCm39)	V45D	possibly damaging	Het
Azi2	C	A	9: 117,891,165 (GRCm39)	Q397K	probably benign	Het
Cacna1h	G	T	17: 25,611,445 (GRCm39)	S451*	probably null	Het
Cacna2d3	A	T	14: 28,826,995 (GRCm39)		probably benign	Het
Cep85l	A	G	10: 53,224,759 (GRCm39)	Y277H	probably damaging	Het
Cep97	C	A	16: 55,731,965 (GRCm39)	V608L	probably benign	Het
Crb1	T	A	1: 139,242,392 (GRCm39)	Y362F	probably damaging	Het
Ctc1	T	A	11: 68,920,669 (GRCm39)		probably benign	Het
Dnah14	T	C	1: 181,471,196 (GRCm39)		probably null	Het
Dock4	T	C	12: 40,795,759 (GRCm39)	F859L	probably benign	Het
Errfi1	T	C	4: 150,950,914 (GRCm39)	F114S	possibly damaging	Het
Gbp9	T	A	5: 105,242,108 (GRCm39)	I150F	probably damaging	Het
Loxhd1	C	T	18: 77,518,888 (GRCm39)	T1898M	probably damaging	Het
Lrrc9	A	T	12: 72,507,680 (GRCm39)	T394S	probably benign	Het
Ltbp2	T	C	12: 84,838,673 (GRCm39)	E1115G	probably damaging	Het
Mast4	T	C	13: 102,917,753 (GRCm39)	S552G	probably damaging	Het
Mgat4b	T	A	11: 50,123,203 (GRCm39)	Y263*	probably null	Het
Moxd2	T	C	6: 40,862,301 (GRCm39)	I173V	probably benign	Het
Mrc2	T	C	11: 105,239,181 (GRCm39)	V1312A	probably damaging	Het
Myh1	A	T	11: 67,097,429 (GRCm39)	I465F	probably damaging	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nt5dc1	T	C	10: 34,273,210 (GRCm39)	D196G	probably benign	Het
Obscn	T	C	11: 58,931,143 (GRCm39)	D5028G	possibly damaging	Het
Pabpc1	A	G	15: 36,598,553 (GRCm39)	F447S	probably benign	Het
Pcsk6	T	G	7: 65,577,683 (GRCm39)	N201K	possibly damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Rnf213	A	G	11: 119,332,480 (GRCm39)	D2564G		Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Het
Sec24a	T	C	11: 51,595,144 (GRCm39)	T939A	probably benign	Het
Serpine1	A	T	5: 137,095,855 (GRCm39)	L242H	probably benign	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc6a6	A	C	6: 91,718,226 (GRCm39)	I347L	probably benign	Het
Spns2	A	T	11: 72,345,003 (GRCm39)	L495H	possibly damaging	Het
Stam2	A	G	2: 52,596,409 (GRCm39)		probably null	Het
Syt12	C	A	19: 4,503,852 (GRCm39)	V260F	probably damaging	Het
Tdrd7	T	A	4: 45,987,516 (GRCm39)	S50T	possibly damaging	Het
Tert	T	A	13: 73,775,264 (GRCm39)	V39E	probably damaging	Het
Tmem147	T	A	7: 30,427,978 (GRCm39)	S75C	probably damaging	Het
Tnpo2	C	T	8: 85,778,188 (GRCm39)	P564S	probably damaging	Het
Utp25	A	G	1: 192,796,980 (GRCm39)	V1A		Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Zfp738	A	G	13: 67,819,010 (GRCm39)	L327S	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
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
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'- ATGTTCCTACAGTAGAGGTGGAG -3'
(R):5'- TTCTGCAATGTGAGGAAAGTAGTTG -3'

Sequencing Primer
(F):5'- GGAAAGGCTGCGAATGGCTC -3'
(R):5'- ATCCTAGTGGTAGAGTACTTGCC -3'

Posted On

2020-01-23