Incidental Mutation 'R0586:Parp14'
ID |
55787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Parp14
|
Ensembl Gene |
ENSMUSG00000034422 |
Gene Name |
poly (ADP-ribose) polymerase family, member 14 |
Synonyms |
CoaSt6, collaborator of Stat6, 1600029O10Rik |
MMRRC Submission |
038776-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R0586 (G1)
|
Quality Score |
140 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35661382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 1522
(K1522R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037657
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042665]
|
AlphaFold |
Q2EMV9 |
PDB Structure |
Solution structure of WWE domain in Parp14 protein [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000042665
AA Change: K1522R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422 AA Change: K1522R
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
49 |
N/A |
INTRINSIC |
low complexity region
|
93 |
115 |
N/A |
INTRINSIC |
RRM
|
228 |
297 |
4.71e-2 |
SMART |
coiled coil region
|
443 |
468 |
N/A |
INTRINSIC |
Blast:A1pp
|
693 |
746 |
6e-6 |
BLAST |
low complexity region
|
771 |
795 |
N/A |
INTRINSIC |
A1pp
|
814 |
948 |
7.62e-41 |
SMART |
A1pp
|
1026 |
1160 |
5.88e-24 |
SMART |
A1pp
|
1239 |
1358 |
6.82e-20 |
SMART |
PDB:1X4R|A
|
1532 |
1619 |
9e-53 |
PDB |
Pfam:PARP
|
1632 |
1817 |
2.5e-29 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.4%
|
Validation Efficiency |
100% (74/74) |
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 poly(ADP-ribose) polymerase (PARP) protein family. The encoded anti-apoptotic protein may regulate aerobic glycolysis and promote survival of cancer cells. Increased expression of this gene has been reported in a variety of tumor types. [provided by RefSeq, Jul 2016] PHENOTYPE: Mice homozygous for a gene trap allele exhibit altered B cell subsets and inability to respond to the apoptosis protective affects of IL4. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,092,860 (GRCm39) |
V308E |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,356,418 (GRCm39) |
|
probably benign |
Het |
Astn2 |
C |
T |
4: 66,103,379 (GRCm39) |
V345M |
unknown |
Het |
Brwd1 |
T |
C |
16: 95,844,286 (GRCm39) |
E756G |
probably damaging |
Het |
Ccpg1 |
C |
T |
9: 72,909,103 (GRCm39) |
L135F |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,845 (GRCm39) |
H694Y |
probably damaging |
Het |
Cfh |
G |
A |
1: 140,110,920 (GRCm39) |
T14I |
probably damaging |
Het |
Cfhr2 |
G |
A |
1: 139,741,172 (GRCm39) |
R268* |
probably null |
Het |
Clca3a1 |
T |
A |
3: 144,738,350 (GRCm39) |
I53L |
probably benign |
Het |
Clcn6 |
A |
G |
4: 148,123,206 (GRCm39) |
|
probably benign |
Het |
Cnfn |
C |
T |
7: 25,067,256 (GRCm39) |
V98I |
probably benign |
Het |
Cntnap1 |
C |
T |
11: 101,077,840 (GRCm39) |
R1122W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,272,024 (GRCm39) |
E384V |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,648,705 (GRCm39) |
|
probably benign |
Het |
Ctsj |
T |
A |
13: 61,151,515 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
C |
19: 39,501,934 (GRCm39) |
|
probably benign |
Het |
Dock5 |
A |
C |
14: 68,046,481 (GRCm39) |
I767S |
probably damaging |
Het |
Eftud2 |
T |
C |
11: 102,737,446 (GRCm39) |
T552A |
probably damaging |
Het |
Epdr1 |
A |
G |
13: 19,778,715 (GRCm39) |
I25T |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,789,138 (GRCm39) |
D568V |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,836,516 (GRCm39) |
V145D |
probably damaging |
Het |
Fhip1b |
T |
C |
7: 105,038,654 (GRCm39) |
E195G |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,555,342 (GRCm39) |
T1732S |
probably damaging |
Het |
Fuz |
T |
C |
7: 44,547,982 (GRCm39) |
V183A |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,046 (GRCm39) |
S284P |
probably damaging |
Het |
Hoxb4 |
G |
T |
11: 96,209,713 (GRCm39) |
G40C |
probably damaging |
Het |
Kcnn1 |
T |
C |
8: 71,316,513 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
C |
A |
15: 98,733,088 (GRCm39) |
|
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,203,732 (GRCm39) |
V366A |
unknown |
Het |
Ldlr |
G |
A |
9: 21,651,040 (GRCm39) |
R486H |
probably benign |
Het |
Lnpep |
A |
T |
17: 17,795,658 (GRCm39) |
|
probably benign |
Het |
Mical3 |
A |
T |
6: 121,006,602 (GRCm39) |
|
probably benign |
Het |
Myh15 |
T |
C |
16: 48,992,250 (GRCm39) |
|
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,716 (GRCm39) |
H542Q |
probably benign |
Het |
Opn4 |
A |
G |
14: 34,320,930 (GRCm39) |
|
probably benign |
Het |
Or13a20 |
T |
C |
7: 140,231,976 (GRCm39) |
F28S |
probably benign |
Het |
Or4a68 |
T |
A |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
Or8g4 |
A |
T |
9: 39,662,414 (GRCm39) |
H244L |
probably damaging |
Het |
Or8h10 |
T |
C |
2: 86,809,126 (GRCm39) |
N5D |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,594,335 (GRCm39) |
D1259E |
probably benign |
Het |
Pogz |
C |
T |
3: 94,786,664 (GRCm39) |
A1084V |
probably damaging |
Het |
Popdc3 |
G |
A |
10: 45,191,359 (GRCm39) |
V157M |
probably benign |
Het |
Prrt4 |
T |
C |
6: 29,171,183 (GRCm39) |
Y423C |
probably damaging |
Het |
Qrich1 |
C |
T |
9: 108,411,719 (GRCm39) |
H415Y |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,433,235 (GRCm39) |
N801D |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,525,124 (GRCm39) |
|
probably benign |
Het |
Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,650,445 (GRCm39) |
D356G |
probably null |
Het |
Skint8 |
C |
G |
4: 111,794,126 (GRCm39) |
P172R |
probably damaging |
Het |
Slc12a8 |
T |
G |
16: 33,478,600 (GRCm39) |
M643R |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,271,113 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,640,321 (GRCm39) |
L272P |
probably damaging |
Het |
Tcaf1 |
T |
A |
6: 42,650,473 (GRCm39) |
M869L |
probably damaging |
Het |
Tecpr1 |
T |
C |
5: 144,154,219 (GRCm39) |
N78S |
probably damaging |
Het |
Tectb |
A |
T |
19: 55,170,356 (GRCm39) |
Y69F |
probably damaging |
Het |
Them4 |
A |
T |
3: 94,237,101 (GRCm39) |
N187I |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,244,582 (GRCm39) |
|
probably null |
Het |
Tnik |
G |
T |
3: 28,631,510 (GRCm39) |
|
probably benign |
Het |
Tns2 |
G |
T |
15: 102,018,020 (GRCm39) |
|
probably benign |
Het |
Tnxb |
A |
G |
17: 34,891,118 (GRCm39) |
D487G |
probably damaging |
Het |
Trim33 |
T |
A |
3: 103,217,660 (GRCm39) |
C202S |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,350 (GRCm39) |
I1145F |
probably damaging |
Het |
Trpv2 |
A |
G |
11: 62,483,596 (GRCm39) |
T478A |
probably benign |
Het |
Ube2e3 |
T |
C |
2: 78,750,334 (GRCm39) |
Y187H |
probably benign |
Het |
Ubxn11 |
A |
G |
4: 133,836,963 (GRCm39) |
R64G |
possibly damaging |
Het |
Wwtr1 |
T |
C |
3: 57,366,487 (GRCm39) |
T407A |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,502 (GRCm39) |
S1325T |
possibly damaging |
Het |
|
Other mutations in Parp14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00337:Parp14
|
APN |
16 |
35,661,445 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00497:Parp14
|
APN |
16 |
35,655,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00754:Parp14
|
APN |
16 |
35,659,741 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00960:Parp14
|
APN |
16 |
35,661,589 (GRCm39) |
missense |
probably benign |
0.20 |
IGL01321:Parp14
|
APN |
16 |
35,676,929 (GRCm39) |
missense |
probably benign |
|
IGL01397:Parp14
|
APN |
16 |
35,679,098 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01591:Parp14
|
APN |
16 |
35,678,877 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL01728:Parp14
|
APN |
16 |
35,677,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01734:Parp14
|
APN |
16 |
35,678,970 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02156:Parp14
|
APN |
16 |
35,678,967 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02951:Parp14
|
APN |
16 |
35,678,903 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03067:Parp14
|
APN |
16 |
35,676,878 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03135:Parp14
|
APN |
16 |
35,678,381 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03141:Parp14
|
APN |
16 |
35,659,663 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03146:Parp14
|
APN |
16 |
35,678,823 (GRCm39) |
nonsense |
probably null |
|
IGL03333:Parp14
|
APN |
16 |
35,661,800 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03391:Parp14
|
APN |
16 |
35,678,640 (GRCm39) |
missense |
probably benign |
|
thurston
|
UTSW |
16 |
35,664,785 (GRCm39) |
splice site |
probably benign |
|
PIT4585001:Parp14
|
UTSW |
16 |
35,678,975 (GRCm39) |
missense |
probably benign |
0.03 |
R0306:Parp14
|
UTSW |
16 |
35,676,944 (GRCm39) |
missense |
probably benign |
|
R0506:Parp14
|
UTSW |
16 |
35,661,779 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0606:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R0612:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R0699:Parp14
|
UTSW |
16 |
35,680,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R0786:Parp14
|
UTSW |
16 |
35,661,172 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0883:Parp14
|
UTSW |
16 |
35,678,888 (GRCm39) |
missense |
probably benign |
0.03 |
R0900:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1087:Parp14
|
UTSW |
16 |
35,678,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Parp14
|
UTSW |
16 |
35,664,785 (GRCm39) |
splice site |
probably benign |
|
R1120:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1134:Parp14
|
UTSW |
16 |
35,655,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R1153:Parp14
|
UTSW |
16 |
35,678,041 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1159:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1160:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1237:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1238:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1239:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1423:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1511:Parp14
|
UTSW |
16 |
35,677,594 (GRCm39) |
missense |
probably benign |
0.00 |
R1518:Parp14
|
UTSW |
16 |
35,677,008 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1619:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1707:Parp14
|
UTSW |
16 |
35,678,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1831:Parp14
|
UTSW |
16 |
35,678,958 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1840:Parp14
|
UTSW |
16 |
35,683,819 (GRCm39) |
missense |
probably damaging |
1.00 |
R1889:Parp14
|
UTSW |
16 |
35,677,130 (GRCm39) |
missense |
probably benign |
0.09 |
R1902:Parp14
|
UTSW |
16 |
35,673,888 (GRCm39) |
critical splice donor site |
probably null |
|
R1943:Parp14
|
UTSW |
16 |
35,656,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Parp14
|
UTSW |
16 |
35,678,671 (GRCm39) |
missense |
probably benign |
0.08 |
R2115:Parp14
|
UTSW |
16 |
35,678,904 (GRCm39) |
missense |
probably benign |
0.16 |
R2216:Parp14
|
UTSW |
16 |
35,677,575 (GRCm39) |
missense |
probably benign |
0.00 |
R2519:Parp14
|
UTSW |
16 |
35,678,573 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3851:Parp14
|
UTSW |
16 |
35,674,118 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4052:Parp14
|
UTSW |
16 |
35,678,771 (GRCm39) |
missense |
probably benign |
0.05 |
R4671:Parp14
|
UTSW |
16 |
35,678,691 (GRCm39) |
missense |
probably benign |
0.00 |
R4867:Parp14
|
UTSW |
16 |
35,677,697 (GRCm39) |
missense |
probably benign |
0.01 |
R4941:Parp14
|
UTSW |
16 |
35,666,403 (GRCm39) |
missense |
probably benign |
|
R4992:Parp14
|
UTSW |
16 |
35,661,512 (GRCm39) |
missense |
probably benign |
0.05 |
R5055:Parp14
|
UTSW |
16 |
35,664,733 (GRCm39) |
missense |
probably benign |
0.00 |
R5073:Parp14
|
UTSW |
16 |
35,655,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R5170:Parp14
|
UTSW |
16 |
35,677,649 (GRCm39) |
missense |
probably benign |
0.21 |
R5422:Parp14
|
UTSW |
16 |
35,686,545 (GRCm39) |
missense |
probably benign |
0.01 |
R5543:Parp14
|
UTSW |
16 |
35,655,137 (GRCm39) |
missense |
probably benign |
0.00 |
R5549:Parp14
|
UTSW |
16 |
35,661,505 (GRCm39) |
missense |
probably benign |
0.00 |
R5553:Parp14
|
UTSW |
16 |
35,677,306 (GRCm39) |
missense |
probably benign |
0.01 |
R5691:Parp14
|
UTSW |
16 |
35,683,909 (GRCm39) |
missense |
probably benign |
0.12 |
R5774:Parp14
|
UTSW |
16 |
35,678,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R5855:Parp14
|
UTSW |
16 |
35,661,297 (GRCm39) |
nonsense |
probably null |
|
R5942:Parp14
|
UTSW |
16 |
35,659,737 (GRCm39) |
missense |
probably damaging |
0.98 |
R5990:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R5991:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6018:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6022:Parp14
|
UTSW |
16 |
35,661,827 (GRCm39) |
missense |
probably benign |
0.14 |
R6075:Parp14
|
UTSW |
16 |
35,677,389 (GRCm39) |
missense |
probably damaging |
0.99 |
R6395:Parp14
|
UTSW |
16 |
35,676,918 (GRCm39) |
missense |
probably benign |
0.00 |
R6525:Parp14
|
UTSW |
16 |
35,680,811 (GRCm39) |
missense |
probably benign |
0.05 |
R6683:Parp14
|
UTSW |
16 |
35,655,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R7525:Parp14
|
UTSW |
16 |
35,677,861 (GRCm39) |
missense |
probably benign |
0.00 |
R8011:Parp14
|
UTSW |
16 |
35,677,004 (GRCm39) |
missense |
probably benign |
0.00 |
R8192:Parp14
|
UTSW |
16 |
35,691,584 (GRCm39) |
missense |
probably benign |
0.01 |
R8367:Parp14
|
UTSW |
16 |
35,678,124 (GRCm39) |
missense |
probably benign |
0.36 |
R8526:Parp14
|
UTSW |
16 |
35,661,307 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8751:Parp14
|
UTSW |
16 |
35,677,181 (GRCm39) |
missense |
probably benign |
0.32 |
R8962:Parp14
|
UTSW |
16 |
35,677,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9231:Parp14
|
UTSW |
16 |
35,661,583 (GRCm39) |
missense |
probably damaging |
0.98 |
R9363:Parp14
|
UTSW |
16 |
35,678,586 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9366:Parp14
|
UTSW |
16 |
35,659,630 (GRCm39) |
critical splice donor site |
probably null |
|
R9379:Parp14
|
UTSW |
16 |
35,680,853 (GRCm39) |
missense |
probably benign |
0.08 |
R9562:Parp14
|
UTSW |
16 |
35,677,775 (GRCm39) |
missense |
probably benign |
0.16 |
R9565:Parp14
|
UTSW |
16 |
35,677,775 (GRCm39) |
missense |
probably benign |
0.16 |
R9696:Parp14
|
UTSW |
16 |
35,661,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R9696:Parp14
|
UTSW |
16 |
35,661,251 (GRCm39) |
missense |
possibly damaging |
0.67 |
X0026:Parp14
|
UTSW |
16 |
35,677,527 (GRCm39) |
nonsense |
probably null |
|
X0060:Parp14
|
UTSW |
16 |
35,655,077 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Parp14
|
UTSW |
16 |
35,661,956 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Parp14
|
UTSW |
16 |
35,665,708 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Parp14
|
UTSW |
16 |
35,691,573 (GRCm39) |
missense |
probably benign |
0.16 |
|
Predicted Primers |
PCR Primer
(F):5'- TACCTTCAGCTTTGACGAGGCG -3'
(R):5'- AGAGCAGCTTTCCTACACCAATGAC -3'
Sequencing Primer
(F):5'- AGTCCACCGTGAAATCCTGATTG -3'
(R):5'- TTCCTACACCAATGACGATGAGTG -3'
|
Posted On |
2013-07-11 |