Incidental Mutation 'R0039:Prune1'
| ID |
15690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prune1
|
| Ensembl Gene |
ENSMUSG00000015711 |
| Gene Name |
prune exopolyphosphatase |
| Synonyms |
Prune, 9230112O05Rik, Prune-M1 |
| MMRRC Submission |
038333-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0039 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95160985-95189387 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95169678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 175
(T175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015855]
|
| AlphaFold |
Q8BIW1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015855
AA Change: T175S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000015855
Gene: ENSMUSG00000015711
AA Change: T175S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DHH
|
19 |
181 |
2.5e-10 |
PFAM |
|
DHHA2
|
215 |
359 |
1.88e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148959
|
| Meta Mutation Damage Score |
0.4544 |
| Coding Region Coverage |
- 1x: 82.5%
- 3x: 74.4%
- 10x: 54.3%
- 20x: 37.4%
|
| Validation Efficiency |
95% (60/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a flattened pancake appearance at E9. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
C |
T |
12: 52,565,518 (GRCm39) |
Q830* |
probably null |
Het |
| Atic |
A |
T |
1: 71,617,009 (GRCm39) |
E523V |
possibly damaging |
Het |
| Cass4 |
T |
A |
2: 172,268,900 (GRCm39) |
F329L |
probably damaging |
Het |
| Cdk17 |
A |
T |
10: 93,062,640 (GRCm39) |
|
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,819,033 (GRCm39) |
R886H |
probably benign |
Het |
| Cep170 |
A |
C |
1: 176,610,061 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,654,541 (GRCm39) |
K82E |
probably benign |
Het |
| Dtd1 |
C |
T |
2: 144,588,896 (GRCm39) |
R185W |
probably damaging |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
T |
G |
12: 51,800,608 (GRCm39) |
E2070A |
possibly damaging |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,846 (GRCm39) |
K257* |
probably null |
Het |
| Ighv8-5 |
T |
A |
12: 115,031,207 (GRCm39) |
T111S |
possibly damaging |
Het |
| Lmtk2 |
G |
T |
5: 144,103,205 (GRCm39) |
L321F |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,592,416 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mroh8 |
T |
C |
2: 157,071,849 (GRCm39) |
H552R |
possibly damaging |
Het |
| Myh2 |
T |
A |
11: 67,069,103 (GRCm39) |
L304Q |
probably damaging |
Het |
| Rdh10 |
C |
T |
1: 16,199,508 (GRCm39) |
T238I |
probably damaging |
Het |
| Rlf |
T |
A |
4: 121,004,039 (GRCm39) |
H1647L |
possibly damaging |
Het |
| Rreb1 |
C |
T |
13: 38,083,613 (GRCm39) |
T92M |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,392,788 (GRCm39) |
M268K |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,313,926 (GRCm39) |
V1893A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,745,209 (GRCm39) |
L518Q |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,179,819 (GRCm39) |
V343D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,262,772 (GRCm39) |
S171P |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,440,221 (GRCm39) |
Q82* |
probably null |
Het |
| Unc13c |
A |
G |
9: 73,576,847 (GRCm39) |
|
probably benign |
Het |
| Wdr43 |
G |
T |
17: 71,960,487 (GRCm39) |
G590* |
probably null |
Het |
|
| Other mutations in Prune1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01861:Prune1
|
APN |
3 |
95,172,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Prune1
|
APN |
3 |
95,166,548 (GRCm39) |
splice site |
probably benign |
|
|
IGL02659:Prune1
|
APN |
3 |
95,162,711 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0194:Prune1
|
UTSW |
3 |
95,169,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1791:Prune1
|
UTSW |
3 |
95,175,553 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2072:Prune1
|
UTSW |
3 |
95,162,719 (GRCm39) |
missense |
probably benign |
|
|
R2513:Prune1
|
UTSW |
3 |
95,165,430 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3814:Prune1
|
UTSW |
3 |
95,172,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Prune1
|
UTSW |
3 |
95,169,542 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4455:Prune1
|
UTSW |
3 |
95,189,207 (GRCm39) |
splice site |
probably null |
|
|
R4589:Prune1
|
UTSW |
3 |
95,169,642 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5664:Prune1
|
UTSW |
3 |
95,165,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Prune1
|
UTSW |
3 |
95,169,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6773:Prune1
|
UTSW |
3 |
95,171,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7285:Prune1
|
UTSW |
3 |
95,162,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Prune1
|
UTSW |
3 |
95,189,021 (GRCm39) |
unclassified |
probably benign |
|
|
R7635:Prune1
|
UTSW |
3 |
95,162,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8367:Prune1
|
UTSW |
3 |
95,172,837 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9000:Prune1
|
UTSW |
3 |
95,162,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Prune1
|
UTSW |
3 |
95,162,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2012-12-21 |
Incidental Mutation