Mutagenetix > Incidental Mutation

Incidental Mutation 'R3005:Ptov1'

257418

Institutional Source

Beutler Lab

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) question?

Stock #

R3005 (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 44513886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 52 (N52S)

Ref Sequence

ENSEMBL: ENSMUSP00000146633 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000046575
AA Change: N321S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035281
Gene: ENSMUSG00000038502
AA Change: N321S

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

noncoding transcript
Transcript: ENSMUST00000153085
AA Change: N137S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140732
AA Change: N543S

Predicted Effect

probably damaging
Transcript: ENSMUST00000207363
AA Change: N52S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000207416
AA Change: N62S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144669

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: 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: 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: ENSMUST00000209018
AA Change: N17S

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

unknown
Transcript: ENSMUST00000208410
AA Change: N75S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208655

Predicted Effect

probably benign
Transcript: ENSMUST00000208666

Predicted Effect

probably benign
Transcript: ENSMUST00000208682

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209003

Predicted Effect

probably benign
Transcript: ENSMUST00000208385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208765

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep162	C	A	9: 87,114,113 (GRCm39)	V320L	probably benign	Het
Cnga1	T	A	5: 72,762,450 (GRCm39)	I355F	probably damaging	Het
Csnk1e	T	C	15: 79,323,005 (GRCm39)	I15V	probably benign	Het
Dele1	T	A	18: 38,393,012 (GRCm39)	N405K	possibly damaging	Het
Exosc8	T	C	3: 54,639,568 (GRCm39)		probably null	Het
Garre1	T	C	7: 33,984,209 (GRCm39)	E138G	probably damaging	Het
Gstm3	G	T	3: 107,874,923 (GRCm39)	Q110K	probably benign	Het
Hace1	G	A	10: 45,524,959 (GRCm39)	G242R	probably damaging	Het
Lcn6	T	A	2: 25,567,261 (GRCm39)		probably null	Het
Msh6	A	G	17: 88,295,713 (GRCm39)	E1088G	probably benign	Het
Nlrp4c	G	A	7: 6,068,524 (GRCm39)	V142M	probably benign	Het
Nup50	G	A	15: 84,813,661 (GRCm39)		probably null	Het
Or51g2	C	T	7: 102,622,465 (GRCm39)	V245I	possibly damaging	Het
Ppp2r5a	A	T	1: 191,091,173 (GRCm39)	F218Y	probably damaging	Het
Rif1	G	A	2: 51,972,776 (GRCm39)	A303T	probably damaging	Het
Ror1	T	A	4: 100,298,961 (GRCm39)	V778E	probably damaging	Het
Tcaf3	A	T	6: 42,570,978 (GRCm39)	L258H	probably damaging	Het
Utp20	C	A	10: 88,613,317 (GRCm39)	K1321N	probably damaging	Het
Vmn2r54	T	A	7: 12,349,221 (GRCm39)	Q787L	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
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'- GGGATGGTGCATGCAAACAC -3'
(R):5'- TCATGCAGCTCATTCCGCAG -3'

Sequencing Primer
(F):5'- GGGTACAGGACATCCTAGCTG -3'
(R):5'- AGCTCATTCCGCAGCAGTTG -3'

Posted On

2015-01-11