Incidental Mutation 'R4455:Prune1'
ID |
329126 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prune1
|
Ensembl Gene |
ENSMUSG00000015711 |
Gene Name |
prune exopolyphosphatase |
Synonyms |
Prune, 9230112O05Rik, Prune-M1 |
MMRRC Submission |
041715-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4455 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95160985-95189387 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 95189207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015855]
[ENSMUST00000039537]
[ENSMUST00000107187]
[ENSMUST00000143498]
|
AlphaFold |
Q8BIW1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015855
|
SMART Domains |
Protein: ENSMUSP00000015855 Gene: ENSMUSG00000015711
Domain | Start | End | E-Value | Type |
Pfam:DHH
|
19 |
181 |
2.5e-10 |
PFAM |
DHHA2
|
215 |
359 |
1.88e-33 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000039537
|
SMART Domains |
Protein: ENSMUSP00000043910 Gene: ENSMUSG00000038712
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
Pfam:DUF544
|
143 |
268 |
7.7e-51 |
PFAM |
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107187
|
SMART Domains |
Protein: ENSMUSP00000102805 Gene: ENSMUSG00000038712
Domain | Start | End | E-Value | Type |
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
Pfam:DUF544
|
143 |
266 |
7e-42 |
PFAM |
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
low complexity region
|
400 |
406 |
N/A |
INTRINSIC |
low complexity region
|
414 |
432 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135264
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137743
|
Predicted Effect |
probably null
Transcript: ENSMUST00000143498
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149568
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152640
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147963
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153928
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
100% (61/61) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
Aoc1l3 |
A |
T |
6: 48,964,394 (GRCm39) |
N134I |
possibly damaging |
Het |
Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
possibly damaging |
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 |
R0039:Prune1
|
UTSW |
3 |
95,169,678 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGGTAACCCGGCAGAATGTAC -3'
(R):5'- TCCAGACAGGTTGGGCTAGATAG -3'
Sequencing Primer
(F):5'- TGTACCCCGCCCTAGACCTAG -3'
(R):5'- GGTTGGGCTAGATAGAAAGAATTTG -3'
|
Posted On |
2015-07-21 |