Incidental Mutation 'R0787:Ptov1'
ID 76902
Institutional Source Beutler Lab
Gene Symbol Ptov1
Ensembl Gene ENSMUSG00000038502
Gene Name prostate tumor over expressed gene 1
Synonyms Gcap3, 1110030G05Rik
MMRRC Submission 038967-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # R0787 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44512491-44519212 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 44514894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000003044] [ENSMUST00000046575] [ENSMUST00000098478] [ENSMUST00000107876] [ENSMUST00000123015] [ENSMUST00000124168] [ENSMUST00000207363] [ENSMUST00000200892] [ENSMUST00000201882] [ENSMUST00000202646] [ENSMUST00000155050] [ENSMUST00000209018]
AlphaFold Q91VU8
Predicted Effect probably benign
Transcript: ENSMUST00000003044
SMART Domains Protein: ENSMUSP00000003044
Gene: ENSMUSG00000002963

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000046575
SMART Domains Protein: ENSMUSP00000035281
Gene: ENSMUSG00000038502

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000124168
SMART Domains Protein: ENSMUSP00000144330
Gene: ENSMUSG00000002963

DomainStartEndE-ValueType
PDB:1YJM|C 1 51 3e-30 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207393
Predicted Effect probably benign
Transcript: ENSMUST00000207416
Predicted Effect probably benign
Transcript: ENSMUST00000207363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126860
Predicted Effect probably benign
Transcript: ENSMUST00000200892
SMART Domains Protein: ENSMUSP00000144163
Gene: ENSMUSG00000002963

DomainStartEndE-ValueType
Pfam:AAA_33 18 100 3.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201882
SMART Domains Protein: ENSMUSP00000144690
Gene: ENSMUSG00000002963

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
PDB:1YJM|C 1 50 9e-30 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209139
Predicted Effect probably null
Transcript: ENSMUST00000208682
Predicted Effect probably null
Transcript: ENSMUST00000208682
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208655
Predicted Effect probably benign
Transcript: ENSMUST00000208410
Predicted Effect probably benign
Transcript: ENSMUST00000208666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209003
Predicted Effect probably benign
Transcript: ENSMUST00000209018
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208687
Predicted Effect probably benign
Transcript: ENSMUST00000208385
Meta Mutation Damage Score 0.9592 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 96.9%
  • 20x: 93.4%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001F09Rik A T 14: 43,202,950 (GRCm39) probably null Het
Abca8a T A 11: 109,933,814 (GRCm39) Y1197F possibly damaging Het
Abcc2 T C 19: 43,786,955 (GRCm39) probably null Het
Adamts16 A T 13: 70,886,948 (GRCm39) C979S probably damaging Het
Agap2 T A 10: 126,921,019 (GRCm39) D523E unknown Het
Ankfy1 T A 11: 72,651,122 (GRCm39) I1024N probably damaging Het
Ankrd13c A G 3: 157,700,315 (GRCm39) S379G probably null Het
Arhgap40 T C 2: 158,389,710 (GRCm39) S625P probably benign Het
Armc12 G C 17: 28,757,740 (GRCm39) A291P probably damaging Het
Armc9 A G 1: 86,130,227 (GRCm39) N524D probably damaging Het
Col12a1 G T 9: 79,545,767 (GRCm39) T2305K probably damaging Het
Cyp2c54 T C 19: 40,036,079 (GRCm39) N277S probably benign Het
Czib T A 4: 107,747,326 (GRCm39) L6Q probably damaging Het
Dennd2b G T 7: 109,124,827 (GRCm39) R1068S possibly damaging Het
E130311K13Rik A T 3: 63,827,719 (GRCm39) V129E probably benign Het
Ehbp1l1 T C 19: 5,772,696 (GRCm39) D79G possibly damaging Het
Epb41l1 A G 2: 156,336,010 (GRCm39) E58G probably damaging Het
Fam217b T A 2: 178,062,702 (GRCm39) V222E probably benign Het
Fat1 T A 8: 45,493,592 (GRCm39) Y3913N probably damaging Het
Fgd4 A G 16: 16,241,765 (GRCm39) probably benign Het
Hltf A T 3: 20,160,610 (GRCm39) D759V probably damaging Het
Hsp90ab1 ACTTCTT ACTT 17: 45,880,425 (GRCm39) probably benign Het
Isg15 C T 4: 156,284,396 (GRCm39) R44H probably benign Het
Itga4 C T 2: 79,109,497 (GRCm39) T232I probably benign Het
Kntc1 C A 5: 123,934,167 (GRCm39) H1399Q probably benign Het
Lig1 A C 7: 13,032,995 (GRCm39) K499Q probably benign Het
Lrrn3 C A 12: 41,504,230 (GRCm39) C29F probably damaging Het
Mtmr10 T C 7: 63,950,363 (GRCm39) I136T possibly damaging Het
Naip1 A G 13: 100,562,604 (GRCm39) Y854H probably benign Het
Or6c201 T C 10: 128,969,395 (GRCm39) N81D possibly damaging Het
Pcdh9 G A 14: 94,124,193 (GRCm39) A659V possibly damaging Het
Phf20l1 T A 15: 66,487,479 (GRCm39) probably benign Het
Phgdh A G 3: 98,241,865 (GRCm39) V83A probably damaging Het
Pik3r1 A T 13: 101,827,031 (GRCm39) M326K probably benign Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkd1l2 T C 8: 117,802,916 (GRCm39) D235G possibly damaging Het
Pkhd1l1 C A 15: 44,392,660 (GRCm39) P1665Q probably damaging Het
Ppp1r7 A G 1: 93,292,678 (GRCm39) T326A probably damaging Het
Prr22 A T 17: 57,078,072 (GRCm39) Y75F possibly damaging Het
Rasal2 A G 1: 156,986,266 (GRCm39) S766P probably damaging Het
Shmt1 T C 11: 60,683,802 (GRCm39) T337A probably benign Het
Tbc1d4 A T 14: 101,686,645 (GRCm39) I1168N probably damaging Het
Tecpr2 T C 12: 110,912,777 (GRCm39) V1126A probably benign Het
Tep1 A T 14: 51,066,687 (GRCm39) S2304T possibly damaging Het
Tiam1 C A 16: 89,586,449 (GRCm39) R1446M probably damaging Het
Tmem87a T C 2: 120,200,965 (GRCm39) I425V probably benign Het
Ubr3 T C 2: 69,781,765 (GRCm39) probably benign Het
Ubxn7 T A 16: 32,200,581 (GRCm39) probably benign Het
Vmn2r13 A G 5: 109,304,713 (GRCm39) S573P probably damaging Het
Wdfy3 A T 5: 102,105,254 (GRCm39) V191E probably damaging Het
Zdhhc3 A T 9: 122,912,688 (GRCm39) C153* probably null Het
Zfp407 A T 18: 84,227,147 (GRCm39) V2154D probably damaging Het
Zfp407 A G 18: 84,227,471 (GRCm39) V2046A probably benign Het
Zfr T A 15: 12,140,634 (GRCm39) I227N unknown Het
Other mutations in Ptov1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- TCTGCCCCTCTGAAGCCTATAAAGC -3'
(R):5'- TCCCCAGGCAGTAAGATGTTGAGTG -3'

Sequencing Primer
(F):5'- CTGAAGCCTATAAAGCTATGTTTCCC -3'
(R):5'- TGAGTGTGGAGGCCCAG -3'
Posted On 2013-10-16