Incidental Mutation 'R2185:Ptov1'
| ID |
324780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptov1
|
| Ensembl Gene |
ENSMUSG00000038502 |
| Gene Name |
prostate tumor over expressed gene 1 |
| Synonyms |
Gcap3, 1110030G05Rik |
| MMRRC Submission |
040187-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R2185 (G1)
|
| Quality Score |
31 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44512491-44519212 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 44516707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003044]
[ENSMUST00000046575]
[ENSMUST00000098478]
[ENSMUST00000107876]
[ENSMUST00000123015]
[ENSMUST00000207363]
[ENSMUST00000155050]
[ENSMUST00000201882]
[ENSMUST00000202646]
[ENSMUST00000200892]
[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 benign
Transcript: ENSMUST00000046575
|
| SMART Domains |
Protein: ENSMUSP00000035281
Gene: ENSMUSG00000038502
| 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: ENSMUST00000144669
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208655
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207393
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208765
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207303
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208687
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208385
|
| 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 |
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: ENSMUST00000200892
|
| SMART Domains |
Protein: ENSMUSP00000144163
Gene: ENSMUSG00000002963
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_33
|
18 |
100 |
3.9e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209003
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209018
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,829 (GRCm39) |
D119G |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,089,830 (GRCm39) |
M427T |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,402,912 (GRCm39) |
F53S |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,605,390 (GRCm39) |
E272G |
probably benign |
Het |
| Aqr |
C |
T |
2: 113,961,015 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
G |
A |
1: 44,100,541 (GRCm39) |
H186Y |
probably benign |
Het |
| Cibar1 |
A |
T |
4: 12,169,041 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,634,317 (GRCm39) |
Y92C |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,002 (GRCm39) |
N2374K |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,794,256 (GRCm39) |
I664L |
probably benign |
Het |
| Ctnnd1 |
A |
T |
2: 84,442,892 (GRCm39) |
D626E |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,772,619 (GRCm39) |
S476P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,927,953 (GRCm39) |
Y254C |
probably damaging |
Het |
| Gabrr3 |
T |
C |
16: 59,255,031 (GRCm39) |
S239P |
probably damaging |
Het |
| Gen1 |
T |
C |
12: 11,311,041 (GRCm39) |
T64A |
probably null |
Het |
| Gm14399 |
C |
A |
2: 174,973,188 (GRCm39) |
C189F |
probably damaging |
Het |
| Gm9476 |
T |
G |
10: 100,143,040 (GRCm39) |
|
noncoding transcript |
Het |
| Kcnh5 |
A |
T |
12: 75,177,705 (GRCm39) |
F134I |
possibly damaging |
Het |
| Kdm4b |
G |
C |
17: 56,700,750 (GRCm39) |
A474P |
probably benign |
Het |
| Kif2b |
TTCTCTCTCT |
TTCTCTCT |
11: 91,467,797 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrrc28 |
C |
T |
7: 67,195,201 (GRCm39) |
R203Q |
possibly damaging |
Het |
| Lrrc8e |
G |
T |
8: 4,284,986 (GRCm39) |
E404* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,369,349 (GRCm39) |
M239K |
probably damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,704 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
G |
18: 35,714,278 (GRCm39) |
Y75C |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,783,047 (GRCm39) |
V187A |
probably benign |
Het |
| Ncbp2 |
A |
G |
16: 31,775,195 (GRCm39) |
D116G |
probably damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,572 (GRCm39) |
I26F |
probably benign |
Het |
| Or4p8 |
A |
C |
2: 88,727,047 (GRCm39) |
V298G |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,735,509 (GRCm39) |
D195E |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,363 (GRCm39) |
Y119C |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,359,827 (GRCm39) |
M894K |
possibly damaging |
Het |
| Prpf8 |
C |
T |
11: 75,377,939 (GRCm39) |
R8* |
probably null |
Het |
| Prss12 |
T |
A |
3: 123,280,793 (GRCm39) |
S493T |
probably benign |
Het |
| Rfpl4 |
A |
T |
7: 5,118,499 (GRCm39) |
L24M |
probably damaging |
Het |
| Rundc1 |
C |
A |
11: 101,316,157 (GRCm39) |
D76E |
probably benign |
Het |
| Slc5a11 |
G |
T |
7: 122,872,421 (GRCm39) |
A673S |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,258,868 (GRCm39) |
M613T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,260,219 (GRCm39) |
H677L |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,566 (GRCm39) |
N161S |
probably damaging |
Het |
| Trp73 |
A |
T |
4: 154,189,274 (GRCm39) |
|
probably null |
Het |
| Tsr1 |
A |
G |
11: 74,792,906 (GRCm39) |
I405V |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,718,988 (GRCm39) |
T280A |
possibly damaging |
Het |
| Ube2q2 |
A |
G |
9: 55,102,366 (GRCm39) |
|
probably null |
Het |
| Usp5 |
T |
C |
6: 124,794,373 (GRCm39) |
E769G |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,901 (GRCm39) |
K284* |
probably null |
Het |
| Zfp963 |
C |
A |
8: 70,195,561 (GRCm39) |
K297N |
probably benign |
Het |
| Zfp975 |
C |
A |
7: 42,311,105 (GRCm39) |
A503S |
possibly damaging |
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 |
|
|
IGL02217:Ptov1
|
APN |
7 |
44,516,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAACTTCTGGGGCCACTG -3'
(R):5'- GACCTAGGAATTCTCCCCTCTG -3'
Sequencing Primer
(F):5'- GGTCCGTCTCCCTGCAGTAG -3'
(R):5'- CTCGAGTCTTTGGAGCCCTG -3'
|
| Posted On |
2015-06-29 |
Incidental Mutation