Mutagenetix > Incidental Mutation

Incidental Mutation 'R5391:Ptov1'

425849

Institutional Source

Beutler Lab

Gene Symbol

Ptov1

Ensembl Gene

ENSMUSG00000038502

Gene Name

prostate tumor over expressed gene 1

Synonyms

Gcap3, 1110030G05Rik

MMRRC Submission

042963-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R5391 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44512491-44519212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44513008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 397 (Q397R)

Ref Sequence

ENSEMBL: ENSMUSP00000035281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003044] [ENSMUST00000046575] [ENSMUST00000098478] [ENSMUST00000107876] [ENSMUST00000123015] [ENSMUST00000124168] [ENSMUST00000207363] [ENSMUST00000202646] [ENSMUST00000139003] [ENSMUST00000200892] [ENSMUST00000201882] [ENSMUST00000155050] [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: Q397R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035281
Gene: ENSMUSG00000038502
AA Change: Q397R

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

probably benign
Transcript: ENSMUST00000124168

SMART Domains

Protein: ENSMUSP00000144330
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	51	3e-30	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126860

Predicted Effect

not run
Transcript: ENSMUST00000152198
AA Change: Q138R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140732
AA Change: S836G

Predicted Effect

probably benign
Transcript: ENSMUST00000207363
AA Change: Q128R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152747

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: ENSMUST00000139003

SMART Domains

Protein: ENSMUSP00000143904
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	51	3e-30	PDB

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: 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: ENSMUST00000155050

SMART Domains

Protein: ENSMUSP00000144663
Gene: ENSMUSG00000002963

Domain	Start	End	E-Value	Type
PDB:1YJM\|C	1	50	9e-30	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000209018
AA Change: Q57R

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209003

Predicted Effect

probably benign
Transcript: ENSMUST00000208666

Predicted Effect

probably benign
Transcript: ENSMUST00000208682

Predicted Effect

probably benign
Transcript: ENSMUST00000208385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208765

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	G	A	5: 8,855,481 (GRCm39)	M38I	probably null	Het
Actl7a	A	G	4: 56,743,661 (GRCm39)	T63A	probably benign	Het
Amfr	G	A	8: 94,702,676 (GRCm39)	P497S	probably damaging	Het
Ankrd33b	T	C	15: 31,325,352 (GRCm39)	I122V	probably damaging	Het
Asap1	G	T	15: 63,965,901 (GRCm39)	T1011K	possibly damaging	Het
Cbfa2t3	G	A	8: 123,360,134 (GRCm39)	R506*	probably null	Het
Ccs	C	G	19: 4,883,510 (GRCm39)	C96S	probably benign	Het
Cpt1a	A	G	19: 3,399,260 (GRCm39)	D20G	probably damaging	Het
Ctdspl2	G	A	2: 121,834,629 (GRCm39)		probably null	Het
Dhx57	T	C	17: 80,582,510 (GRCm39)	Y365C	probably damaging	Het
Dnah3	C	T	7: 119,689,299 (GRCm39)	M38I	probably benign	Het
Dnajc6	T	C	4: 101,485,355 (GRCm39)		probably null	Het
Elac2	A	G	11: 64,885,120 (GRCm39)	S450G	probably benign	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Il12rb2	T	C	6: 67,269,404 (GRCm39)	N803S	probably benign	Het
Itgb4	T	A	11: 115,875,894 (GRCm39)	M477K	probably benign	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Krt78	C	A	15: 101,860,263 (GRCm39)	E218*	probably null	Het
Lpar1	A	G	4: 58,486,902 (GRCm39)	L105P	probably damaging	Het
Megf8	G	A	7: 25,039,714 (GRCm39)	G936D	possibly damaging	Het
Mov10	G	A	3: 104,709,849 (GRCm39)	H346Y	probably benign	Het
Nfia	A	G	4: 97,671,538 (GRCm39)	I83V	probably damaging	Het
Or5b101	G	T	19: 13,005,150 (GRCm39)	A181E	probably damaging	Het
Or6d15	T	C	6: 116,559,808 (GRCm39)	Y33C	probably damaging	Het
Pcdhgb6	T	G	18: 37,875,640 (GRCm39)	I116S	probably damaging	Het
Pdcd6ip	G	T	9: 113,520,586 (GRCm39)	Q133K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Pik3cd	A	T	4: 149,743,588 (GRCm39)	V207E	probably damaging	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rasl12	G	T	9: 65,305,949 (GRCm39)	A35S	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sec16a	A	G	2: 26,330,044 (GRCm39)	V657A	possibly damaging	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Tbce	T	C	13: 14,180,550 (GRCm39)	I293M	probably damaging	Het
Tektl1	G	A	10: 78,588,688 (GRCm39)	Q41*	probably null	Het
Tmem176a	T	C	6: 48,821,630 (GRCm39)	L204P	probably damaging	Het
Tmem87a	A	G	2: 120,193,358 (GRCm39)		probably null	Het
Tns1	A	T	1: 74,029,568 (GRCm39)		probably null	Het
Usf3	T	A	16: 44,037,826 (GRCm39)	S769T	probably benign	Het
Vmn2r82	A	G	10: 79,192,491 (GRCm39)	T23A	probably null	Het
Vps26a	A	G	10: 62,292,526 (GRCm39)	*328Q	probably null	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wwc2	A	T	8: 48,316,906 (GRCm39)	I729K	unknown	Het
Zbtb44	A	G	9: 30,964,601 (GRCm39)		probably null	Het
Zfp800	A	T	6: 28,242,992 (GRCm39)	S658T	probably damaging	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zfp935	G	T	13: 62,602,632 (GRCm39)	Y189*	probably null	Het
Zkscan1	T	A	5: 138,095,363 (GRCm39)	H203Q	probably benign	Het
Zkscan14	T	C	5: 145,132,604 (GRCm39)	D309G	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
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
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
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'- CCCAGGGATATTGGTAGCAG -3'
(R):5'- AGGGTGAGTGAGTATCCTGAC -3'

Sequencing Primer
(F):5'- ATGCAGCAGGTCTCTCTCAG -3'
(R):5'- AGTATCCTGACTCGGGCCTG -3'

Posted On

2016-08-04