Incidental Mutation 'IGL00844:Ptpro'
ID |
13222 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 |
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00844
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
137252319-137463233 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 137414239 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 786
(H786N)
|
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: H786N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000076364 Gene: ENSMUSG00000030223 AA Change: H786N
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 benign
Transcript: ENSMUST00000167002
|
SMART Domains |
Protein: ENSMUSP00000131764 Gene: ENSMUSG00000030223
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: H786N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000127112 Gene: ENSMUSG00000030223 AA Change: H786N
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 benign
Transcript: ENSMUST00000203914
|
SMART Domains |
Protein: ENSMUSP00000144870 Gene: ENSMUSG00000030223
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
PTPc
|
98 |
358 |
6.1e-130 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204780
|
Coding Region Coverage |
|
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 |
3425401B19Rik |
A |
T |
14: 32,662,999 |
C336* |
probably null |
Het |
Adgrv1 |
T |
C |
13: 81,540,119 |
D994G |
probably damaging |
Het |
Arhgap36 |
G |
T |
X: 49,497,754 |
Q421H |
probably damaging |
Het |
Arhgef17 |
A |
G |
7: 100,929,449 |
V764A |
probably benign |
Het |
Atf7ip |
T |
C |
6: 136,560,681 |
V304A |
probably benign |
Het |
Babam2 |
T |
A |
5: 32,007,307 |
F299L |
probably damaging |
Het |
Ceacam11 |
T |
G |
7: 17,973,670 |
D126E |
possibly damaging |
Het |
Dlg3 |
C |
A |
X: 100,806,593 |
H197Q |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,905,622 |
L590Q |
probably damaging |
Het |
Fras1 |
A |
G |
5: 96,534,853 |
|
probably benign |
Het |
Gabarapl1 |
T |
C |
6: 129,538,635 |
F79L |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,875,711 |
V137A |
probably damaging |
Het |
Gphn |
T |
C |
12: 78,664,568 |
|
probably benign |
Het |
Hnrnpr |
A |
G |
4: 136,339,205 |
I399M |
probably benign |
Het |
Madd |
A |
C |
2: 91,167,868 |
S636A |
probably damaging |
Het |
Pi15 |
T |
C |
1: 17,621,540 |
|
probably benign |
Het |
Ppp3cb |
A |
T |
14: 20,531,686 |
M87K |
possibly damaging |
Het |
Rnase11 |
T |
C |
14: 51,049,756 |
I114V |
possibly damaging |
Het |
Sirt4 |
A |
G |
5: 115,479,626 |
|
probably null |
Het |
Stab1 |
T |
C |
14: 31,147,066 |
D1534G |
probably damaging |
Het |
Sulf2 |
A |
G |
2: 166,094,492 |
S185P |
possibly damaging |
Het |
Svs6 |
A |
C |
2: 164,317,587 |
K90T |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,617,196 |
M2102T |
probably benign |
Het |
Ttll5 |
T |
C |
12: 85,843,826 |
V77A |
probably damaging |
Het |
Usp9x |
T |
G |
X: 13,128,446 |
S959A |
probably benign |
Het |
Vps50 |
C |
T |
6: 3,532,177 |
Q227* |
probably null |
Het |
Zfp57 |
C |
A |
17: 37,009,622 |
Q120K |
possibly damaging |
Het |
Zswim2 |
T |
C |
2: 83,923,771 |
N182D |
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 |
|
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 |
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 |
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 |
|
Posted On |
2012-12-06 |