Incidental Mutation 'IGL02217:Ptov1'
ID |
284946 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ptov1
|
Ensembl Gene |
ENSMUSG00000038502 |
Gene Name |
prostate tumor over expressed gene 1 |
Synonyms |
Gcap3, 1110030G05Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.281)
|
Stock # |
IGL02217
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
44512491-44519212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44516900 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 70
(G70R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035281
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003044]
[ENSMUST00000046575]
[ENSMUST00000098478]
[ENSMUST00000107876]
[ENSMUST00000123015]
[ENSMUST00000207363]
[ENSMUST00000200892]
[ENSMUST00000202646]
[ENSMUST00000155050]
[ENSMUST00000201882]
[ENSMUST00000209018]
|
AlphaFold |
Q91VU8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003044
|
SMART Domains |
Protein: ENSMUSP00000003044 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJM|C
|
1 |
110 |
4e-62 |
PDB |
SCOP:d1lgpa_
|
8 |
114 |
5e-12 |
SMART |
Blast:FHA
|
31 |
74 |
1e-10 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
Pfam:PNK3P
|
165 |
327 |
9.3e-58 |
PFAM |
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
366 |
488 |
1.6e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046575
AA Change: G70R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035281 Gene: ENSMUSG00000038502 AA Change: G70R
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
50 |
N/A |
INTRINSIC |
low complexity region
|
64 |
82 |
N/A |
INTRINSIC |
Pfam:Med25
|
89 |
238 |
1.7e-58 |
PFAM |
Pfam:Med25
|
254 |
399 |
4.2e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098478
|
SMART Domains |
Protein: ENSMUSP00000096078 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJM|C
|
1 |
110 |
2e-62 |
PDB |
SCOP:d1lgpa_
|
8 |
114 |
5e-12 |
SMART |
Blast:FHA
|
31 |
74 |
1e-10 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
Pfam:PNK3P
|
165 |
220 |
2.9e-16 |
PFAM |
Pfam:PNK3P
|
211 |
291 |
5.3e-27 |
PFAM |
low complexity region
|
314 |
328 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
330 |
452 |
5.6e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107876
|
SMART Domains |
Protein: ENSMUSP00000103508 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJM|C
|
1 |
110 |
4e-62 |
PDB |
SCOP:d1lgpa_
|
8 |
114 |
5e-12 |
SMART |
Blast:FHA
|
31 |
74 |
1e-10 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
Pfam:PNK3P
|
165 |
327 |
1.9e-57 |
PFAM |
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
Pfam:AAA_33
|
366 |
488 |
5.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123015
|
SMART Domains |
Protein: ENSMUSP00000143862 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJ5|C
|
1 |
143 |
8e-72 |
PDB |
SCOP:d1lgpa_
|
8 |
114 |
7e-13 |
SMART |
Blast:FHA
|
31 |
74 |
2e-10 |
BLAST |
PDB:3U7G|A
|
144 |
165 |
7e-6 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132707
AA Change: R77Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207363
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145850
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207416
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208410
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208385
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144669
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200892
|
SMART Domains |
Protein: ENSMUSP00000144163 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
Pfam:AAA_33
|
18 |
100 |
3.9e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202646
|
SMART Domains |
Protein: ENSMUSP00000144484 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
Pfam:AAA_33
|
5 |
44 |
6.1e-7 |
PFAM |
Pfam:AAA_33
|
37 |
117 |
4.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155050
|
SMART Domains |
Protein: ENSMUSP00000144663 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJM|C
|
1 |
50 |
9e-30 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201882
|
SMART Domains |
Protein: ENSMUSP00000144690 Gene: ENSMUSG00000002963
Domain | Start | End | E-Value | Type |
PDB:1YJM|C
|
1 |
110 |
6e-63 |
PDB |
SCOP:d1lgpa_
|
8 |
114 |
3e-12 |
SMART |
Blast:FHA
|
31 |
74 |
2e-10 |
BLAST |
low complexity region
|
116 |
134 |
N/A |
INTRINSIC |
Pfam:PNK3P
|
165 |
327 |
9.9e-55 |
PFAM |
low complexity region
|
350 |
364 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000208682
AA Change: G31R
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209003
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208991
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209018
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208687
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208765
|
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 protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
C |
A |
18: 24,603,955 (GRCm39) |
|
probably benign |
Het |
Actn1 |
G |
A |
12: 80,220,868 (GRCm39) |
Q647* |
probably null |
Het |
Adamts6 |
T |
A |
13: 104,598,873 (GRCm39) |
|
probably benign |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cabin1 |
G |
A |
10: 75,535,881 (GRCm39) |
T1389I |
possibly damaging |
Het |
Cenpc1 |
A |
G |
5: 86,177,059 (GRCm39) |
|
probably benign |
Het |
Clca4a |
T |
A |
3: 144,667,757 (GRCm39) |
T405S |
possibly damaging |
Het |
Cntln |
G |
A |
4: 85,018,495 (GRCm39) |
V1168M |
probably damaging |
Het |
Col18a1 |
A |
G |
10: 76,889,132 (GRCm39) |
S1494P |
probably damaging |
Het |
Cps1 |
A |
T |
1: 67,213,541 (GRCm39) |
T758S |
probably benign |
Het |
Cul3 |
A |
T |
1: 80,261,484 (GRCm39) |
M247K |
probably damaging |
Het |
Cyp3a57 |
A |
G |
5: 145,305,953 (GRCm39) |
|
probably null |
Het |
Dennd4c |
T |
A |
4: 86,732,036 (GRCm39) |
C917S |
probably benign |
Het |
Dhrs11 |
A |
T |
11: 84,713,221 (GRCm39) |
Y166* |
probably null |
Het |
Dtl |
A |
G |
1: 191,300,426 (GRCm39) |
V146A |
probably damaging |
Het |
Exosc9 |
A |
G |
3: 36,606,893 (GRCm39) |
E20G |
probably damaging |
Het |
Fer |
A |
G |
17: 64,445,960 (GRCm39) |
K437R |
probably benign |
Het |
Fkbp6 |
A |
T |
5: 135,366,484 (GRCm39) |
V284E |
probably benign |
Het |
Foxq1 |
A |
T |
13: 31,743,152 (GRCm39) |
S85C |
probably damaging |
Het |
Galnt12 |
T |
A |
4: 47,113,832 (GRCm39) |
S83R |
probably damaging |
Het |
Gpr156 |
A |
G |
16: 37,825,673 (GRCm39) |
D630G |
probably benign |
Het |
Hace1 |
A |
T |
10: 45,466,471 (GRCm39) |
|
probably null |
Het |
Hemgn |
G |
T |
4: 46,396,420 (GRCm39) |
T272K |
probably damaging |
Het |
Ifi213 |
T |
G |
1: 173,422,598 (GRCm39) |
E89A |
possibly damaging |
Het |
Jarid2 |
A |
G |
13: 45,066,677 (GRCm39) |
E954G |
probably damaging |
Het |
Kcnu1 |
A |
G |
8: 26,348,212 (GRCm39) |
D126G |
probably damaging |
Het |
Lbh |
A |
T |
17: 73,228,247 (GRCm39) |
I31F |
possibly damaging |
Het |
Lrrc37 |
T |
C |
11: 103,503,697 (GRCm39) |
|
probably benign |
Het |
Mdfic2 |
T |
A |
6: 98,225,033 (GRCm39) |
E83D |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,235,889 (GRCm39) |
E490G |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,897,266 (GRCm39) |
S686P |
probably damaging |
Het |
Nme4 |
A |
G |
17: 26,312,834 (GRCm39) |
M108T |
probably damaging |
Het |
Nod1 |
A |
C |
6: 54,920,404 (GRCm39) |
V638G |
possibly damaging |
Het |
Nrip2 |
A |
G |
6: 128,383,502 (GRCm39) |
N70S |
probably damaging |
Het |
Or2bd2 |
T |
A |
7: 6,443,244 (GRCm39) |
I115N |
probably damaging |
Het |
Or5as1 |
A |
G |
2: 86,980,231 (GRCm39) |
M258T |
probably benign |
Het |
Pitrm1 |
G |
A |
13: 6,617,377 (GRCm39) |
|
probably benign |
Het |
Proser1 |
A |
G |
3: 53,378,912 (GRCm39) |
K115E |
probably damaging |
Het |
Qtrt1 |
T |
G |
9: 21,328,685 (GRCm39) |
|
probably null |
Het |
Rbbp8nl |
A |
G |
2: 179,919,981 (GRCm39) |
|
probably benign |
Het |
Rplp1rt |
A |
T |
19: 12,824,227 (GRCm39) |
|
noncoding transcript |
Het |
Rtn3 |
G |
A |
19: 7,412,449 (GRCm39) |
T794I |
probably damaging |
Het |
Setd4 |
A |
G |
16: 93,390,183 (GRCm39) |
L82P |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,838,784 (GRCm39) |
L27F |
possibly damaging |
Het |
Srpk2 |
A |
C |
5: 23,750,568 (GRCm39) |
V45G |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,627,303 (GRCm39) |
F57S |
probably damaging |
Het |
Vcan |
T |
G |
13: 89,851,196 (GRCm39) |
T1255P |
probably damaging |
Het |
Vmn2r16 |
A |
C |
5: 109,487,676 (GRCm39) |
H183P |
probably damaging |
Het |
Wdr48 |
T |
C |
9: 119,738,601 (GRCm39) |
I286T |
probably benign |
Het |
|
Other mutations in Ptov1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01644:Ptov1
|
APN |
7 |
44,516,926 (GRCm39) |
nonsense |
probably null |
|
R0304:Ptov1
|
UTSW |
7 |
44,512,873 (GRCm39) |
splice site |
probably null |
|
R0335:Ptov1
|
UTSW |
7 |
44,514,046 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0470:Ptov1
|
UTSW |
7 |
44,514,235 (GRCm39) |
missense |
probably damaging |
0.96 |
R0787:Ptov1
|
UTSW |
7 |
44,514,894 (GRCm39) |
critical splice donor site |
probably null |
|
R1844:Ptov1
|
UTSW |
7 |
44,514,991 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2185:Ptov1
|
UTSW |
7 |
44,516,707 (GRCm39) |
unclassified |
probably benign |
|
R3005:Ptov1
|
UTSW |
7 |
44,513,886 (GRCm39) |
missense |
probably damaging |
0.99 |
R4460:Ptov1
|
UTSW |
7 |
44,515,000 (GRCm39) |
missense |
probably benign |
0.01 |
R4731:Ptov1
|
UTSW |
7 |
44,516,533 (GRCm39) |
missense |
probably benign |
0.23 |
R4732:Ptov1
|
UTSW |
7 |
44,516,533 (GRCm39) |
missense |
probably benign |
0.23 |
R4733:Ptov1
|
UTSW |
7 |
44,516,533 (GRCm39) |
missense |
probably benign |
0.23 |
R5063:Ptov1
|
UTSW |
7 |
44,515,026 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5356:Ptov1
|
UTSW |
7 |
44,514,089 (GRCm39) |
missense |
probably damaging |
0.97 |
R5391:Ptov1
|
UTSW |
7 |
44,513,008 (GRCm39) |
missense |
probably damaging |
0.98 |
R7998:Ptov1
|
UTSW |
7 |
44,514,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R9013:Ptov1
|
UTSW |
7 |
44,514,985 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
Posted On |
2015-04-16 |