Mutagenetix > Incidental Mutation

Incidental Mutation 'R5356:Ptov1'

424102

Institutional Source

Beutler Lab

Gene Symbol

Ptov1

Ensembl Gene

ENSMUSG00000038502

Gene Name

prostate tumor over expressed gene 1

Synonyms

Gcap3, 1110030G05Rik

MMRRC Submission

042935-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R5356 (G1)

Quality Score

197

Status

Not validated

Chromosome

Chromosomal Location

44512491-44519212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44514089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 295 (T295S)

Ref Sequence

ENSEMBL: ENSMUSP00000035281 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003044] [ENSMUST00000046575] [ENSMUST00000098478] [ENSMUST00000107876] [ENSMUST00000123015] [ENSMUST00000124168] [ENSMUST00000207363] [ENSMUST00000139003] [ENSMUST00000200892] [ENSMUST00000155050] [ENSMUST00000201882] [ENSMUST00000202646] [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: T295S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035281
Gene: ENSMUSG00000038502
AA Change: T295S

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: E69D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132521
AA Change: N244I

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140732
AA Change: T517S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145684
AA Change: N37I

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207363
AA Change: T26S

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144669

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: 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

unknown
Transcript: ENSMUST00000207416
AA Change: T36S

Predicted Effect

unknown
Transcript: ENSMUST00000208410
AA Change: T49S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208991

Predicted Effect

probably benign
Transcript: ENSMUST00000208682

Predicted Effect

probably benign
Transcript: ENSMUST00000208666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209003

Predicted Effect

probably benign
Transcript: ENSMUST00000209018

Predicted Effect

probably benign
Transcript: ENSMUST00000208385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208765

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,119,405 (GRCm39)	T162I	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Amn1	T	C	6: 149,068,392 (GRCm39)	I205M	possibly damaging	Het
Ankrd50	A	C	3: 38,510,334 (GRCm39)	S678A	probably damaging	Het
Atg13	G	A	2: 91,522,811 (GRCm39)	R78*	probably null	Het
Bmper	T	G	9: 23,285,157 (GRCm39)	F235L	probably benign	Het
Btn2a2	C	T	13: 23,667,045 (GRCm39)	V187I	probably benign	Het
Cabs1	G	A	5: 88,127,492 (GRCm39)	V48I	probably benign	Het
Cacnb3	A	G	15: 98,539,498 (GRCm39)	I212V	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cep162	T	C	9: 87,088,948 (GRCm39)	E978G	probably damaging	Het
Cmya5	A	T	13: 93,199,993 (GRCm39)	L3445Q	probably damaging	Het
Cntrl	T	A	2: 35,038,911 (GRCm39)	L1067*	probably null	Het
Cyp20a1	G	A	1: 60,418,546 (GRCm39)	V329I	probably benign	Het
Cyp2d11	A	T	15: 82,274,712 (GRCm39)	N288K	probably benign	Het
D430041D05Rik	T	G	2: 104,085,754 (GRCm39)	T932P	probably damaging	Het
Dlk1	T	A	12: 109,421,447 (GRCm39)	C54S	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Entpd6	T	A	2: 150,612,303 (GRCm39)	F416L	probably damaging	Het
Evx1	A	G	6: 52,293,602 (GRCm39)	T257A	probably benign	Het
Fpr-rs3	A	T	17: 20,844,596 (GRCm39)	S182T	probably damaging	Het
Glra3	A	T	8: 56,393,936 (GRCm39)	I16F	probably benign	Het
Gm11437	C	A	11: 84,043,513 (GRCm39)	L259F	possibly damaging	Het
Gorasp1	A	T	9: 119,757,024 (GRCm39)	L386Q	probably damaging	Het
Gpsm1	T	C	2: 26,230,574 (GRCm39)	V508A	possibly damaging	Het
Gstm1	T	A	3: 107,920,052 (GRCm39)	I180F	probably benign	Het
Hc	T	C	2: 34,885,007 (GRCm39)	D1400G	probably benign	Het
Lrp2	A	G	2: 69,295,052 (GRCm39)	V3422A	possibly damaging	Het
Map3k4	A	G	17: 12,466,195 (GRCm39)	V1128A	possibly damaging	Het
Mboat2	G	C	12: 25,007,572 (GRCm39)	V363L	probably benign	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat3	A	G	15: 80,095,811 (GRCm39)	I213V	possibly damaging	Het
Mtf2	A	T	5: 108,254,476 (GRCm39)	T426S	possibly damaging	Het
Muc3a	T	C	5: 137,245,021 (GRCm39)	I151V	probably benign	Het
Myh6	T	C	14: 55,191,219 (GRCm39)	E874G	probably damaging	Het
Myo15a	G	A	11: 60,389,192 (GRCm39)	G2030R	probably damaging	Het
Ncdn	T	C	4: 126,641,021 (GRCm39)	Y493C	probably damaging	Het
Ncoa6	A	G	2: 155,263,112 (GRCm39)	F441L	probably damaging	Het
Ndc80	A	T	17: 71,828,103 (GRCm39)	S75T	possibly damaging	Het
Nf1	T	C	11: 79,364,282 (GRCm39)	F1571L	possibly damaging	Het
Nherf2	A	G	17: 24,860,945 (GRCm39)	V88A	probably damaging	Het
Nme8	A	G	13: 19,836,469 (GRCm39)	F236L	probably damaging	Het
Nsmce4a	C	A	7: 130,138,778 (GRCm39)	V289L	probably damaging	Het
Ntrk2	A	T	13: 59,208,056 (GRCm39)	D634V	probably damaging	Het
Pcsk6	G	C	7: 65,620,340 (GRCm39)	E479Q	probably damaging	Het
Pkd1	A	G	17: 24,812,551 (GRCm39)	Q3828R	probably damaging	Het
Ptprf	A	G	4: 118,083,535 (GRCm39)	M824T	probably benign	Het
Rbm6	T	A	9: 107,729,865 (GRCm39)	H129L	probably damaging	Het
Rbm8a2	A	G	1: 175,806,255 (GRCm39)	I74T	possibly damaging	Het
Ret	A	G	6: 118,174,079 (GRCm39)	S6P	possibly damaging	Het
Rspo3	A	T	10: 29,376,064 (GRCm39)	C70*	probably null	Het
Sike1	C	A	3: 102,909,106 (GRCm39)	A202D	possibly damaging	Het
Slco4c1	G	T	1: 96,759,835 (GRCm39)	P499H	probably damaging	Het
Smg1	A	G	7: 117,794,356 (GRCm39)		probably benign	Het
Tmem135	A	G	7: 88,954,723 (GRCm39)	V98A	probably benign	Het
Tor4a	T	A	2: 25,085,918 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,524,166 (GRCm39)	F397S	probably damaging	Het
Tyk2	A	G	9: 21,027,040 (GRCm39)	I581T	probably benign	Het
Unc13a	C	T	8: 72,115,158 (GRCm39)	D164N	probably benign	Het
Vwa3b	T	C	1: 37,153,664 (GRCm39)	I502T	probably damaging	Het
Xrcc6	A	G	15: 81,913,419 (GRCm39)	T6A	probably benign	Het
Zfp524	T	C	7: 5,021,432 (GRCm39)	V320A	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
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'- TGAATTCCGGAACAGTGGC -3'
(R):5'- TGAAGTGCCTTCTCGCTCTG -3'

Sequencing Primer
(F):5'- TTCCGGAACAGTGGCACGAG -3'
(R):5'- TCGCTCTGCCCCAAAGC -3'

Posted On

2016-08-04