Incidental Mutation 'R9379:Parp14'
ID |
709897 |
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 |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.493)
|
Stock # |
R9379 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 35680853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 260
(V260A)
|
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: V260A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422 AA Change: V260A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
T |
4: 39,451,201 (GRCm39) |
I136F |
possibly damaging |
Het |
1700019D03Rik |
T |
A |
1: 52,964,635 (GRCm39) |
D31V |
probably benign |
Het |
Abca14 |
G |
T |
7: 119,807,202 (GRCm39) |
E83* |
probably null |
Het |
Abcc5 |
T |
C |
16: 20,152,437 (GRCm39) |
T1370A |
probably damaging |
Het |
Ankhd1 |
T |
C |
18: 36,777,680 (GRCm39) |
V1621A |
probably benign |
Het |
Ano8 |
T |
A |
8: 71,936,178 (GRCm39) |
Q206L |
probably benign |
Het |
Aox3 |
A |
T |
1: 58,208,959 (GRCm39) |
I831F |
possibly damaging |
Het |
Atp2a2 |
T |
C |
5: 122,611,315 (GRCm39) |
I168V |
probably benign |
Het |
Atxn2 |
G |
A |
5: 121,885,509 (GRCm39) |
V239I |
probably damaging |
Het |
B230219D22Rik |
C |
A |
13: 55,847,283 (GRCm39) |
A132E |
probably damaging |
Het |
Btbd17 |
C |
A |
11: 114,682,749 (GRCm39) |
W321L |
possibly damaging |
Het |
Cacna1i |
T |
A |
15: 80,259,495 (GRCm39) |
V1255E |
probably damaging |
Het |
Camsap1 |
T |
C |
2: 25,846,318 (GRCm39) |
I132V |
|
Het |
Chd7 |
A |
G |
4: 8,752,210 (GRCm39) |
S236G |
unknown |
Het |
Clasp1 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTG |
1: 118,509,157 (GRCm39) |
|
probably benign |
Het |
Clasp1 |
TGC |
TGCCGC |
1: 118,509,168 (GRCm39) |
|
probably benign |
Het |
Col4a1 |
T |
A |
8: 11,249,838 (GRCm39) |
H1658L |
unknown |
Het |
D630044L22Rik |
A |
G |
17: 26,180,856 (GRCm39) |
H102R |
possibly damaging |
Het |
Dact3 |
G |
A |
7: 16,620,013 (GRCm39) |
V503I |
unknown |
Het |
Dcn |
G |
T |
10: 97,343,643 (GRCm39) |
R201L |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,024,567 (GRCm39) |
V1747A |
possibly damaging |
Het |
Dnajc14 |
T |
A |
10: 128,652,743 (GRCm39) |
|
probably null |
Het |
Dspp |
A |
T |
5: 104,322,760 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
C |
15: 81,532,760 (GRCm39) |
V1666A |
unknown |
Het |
Flvcr2 |
A |
G |
12: 85,850,000 (GRCm39) |
I429V |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,373,042 (GRCm39) |
|
probably benign |
Het |
Grip1 |
G |
T |
10: 119,780,961 (GRCm39) |
L203F |
probably damaging |
Het |
Hoga1 |
T |
C |
19: 42,051,697 (GRCm39) |
L250P |
probably damaging |
Het |
Htr2b |
A |
G |
1: 86,027,844 (GRCm39) |
S221P |
probably damaging |
Het |
Ighv1-24 |
T |
C |
12: 114,736,663 (GRCm39) |
Y79C |
possibly damaging |
Het |
Katnip |
T |
C |
7: 125,469,848 (GRCm39) |
L1439P |
probably damaging |
Het |
Kcnq1 |
A |
G |
7: 142,745,169 (GRCm39) |
T311A |
probably damaging |
Het |
Kif21a |
C |
T |
15: 90,854,030 (GRCm39) |
R779Q |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,916,166 (GRCm39) |
E231G |
probably damaging |
Het |
Lrrc8c |
T |
A |
5: 105,756,356 (GRCm39) |
Y710* |
probably null |
Het |
Mixl1 |
A |
G |
1: 180,522,258 (GRCm39) |
S208P |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,557,467 (GRCm39) |
Q2942L |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nup85 |
T |
C |
11: 115,469,424 (GRCm39) |
I322T |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,265,089 (GRCm39) |
D426G |
possibly damaging |
Het |
Or10n7-ps1 |
A |
G |
9: 39,598,114 (GRCm39) |
L42P |
probably damaging |
Het |
Or7e169 |
T |
A |
9: 19,757,212 (GRCm39) |
K234N |
possibly damaging |
Het |
Or8b4 |
C |
T |
9: 37,830,447 (GRCm39) |
L165F |
probably damaging |
Het |
Or9k2b |
A |
G |
10: 130,016,605 (GRCm39) |
M48T |
possibly damaging |
Het |
Osbpl9 |
A |
T |
4: 108,940,399 (GRCm39) |
H178Q |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,492,474 (GRCm39) |
T1777I |
probably damaging |
Het |
Ppp3cb |
T |
C |
14: 20,581,874 (GRCm39) |
D47G |
probably benign |
Het |
Pram1 |
T |
C |
17: 33,860,441 (GRCm39) |
V336A |
probably damaging |
Het |
Prl |
T |
A |
13: 27,243,503 (GRCm39) |
I58N |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,348,934 (GRCm39) |
D630G |
unknown |
Het |
Ralgapa1 |
G |
C |
12: 55,769,583 (GRCm39) |
P803A |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,779,071 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,898,002 (GRCm39) |
C131Y |
probably damaging |
Het |
Spata7 |
A |
G |
12: 98,600,548 (GRCm39) |
I54V |
probably benign |
Het |
St6galnac3 |
A |
G |
3: 153,215,070 (GRCm39) |
V28A |
probably benign |
Het |
Stra6l |
A |
T |
4: 45,849,093 (GRCm39) |
T6S |
probably benign |
Het |
Taf4b |
C |
T |
18: 14,946,431 (GRCm39) |
T418M |
probably damaging |
Het |
Taf6 |
A |
G |
5: 138,181,952 (GRCm39) |
I92T |
possibly damaging |
Het |
Tcaf2 |
C |
T |
6: 42,619,517 (GRCm39) |
S170N |
probably benign |
Het |
Tfrc |
A |
G |
16: 32,443,819 (GRCm39) |
D541G |
probably damaging |
Het |
Trav13n-3 |
T |
G |
14: 53,574,853 (GRCm39) |
L32V |
probably damaging |
Het |
Trpa1 |
T |
C |
1: 14,966,739 (GRCm39) |
T542A |
possibly damaging |
Het |
Ttc39b |
A |
T |
4: 83,189,376 (GRCm39) |
S53T |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,936,288 (GRCm39) |
Y1271C |
possibly damaging |
Het |
Ubap2 |
A |
T |
4: 41,216,630 (GRCm39) |
S268T |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,881,889 (GRCm39) |
V998A |
probably benign |
Het |
Usp44 |
T |
A |
10: 93,688,635 (GRCm39) |
I562K |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,496,066 (GRCm39) |
T553A |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,596,650 (GRCm39) |
V135A |
probably damaging |
Het |
Wbp2nl |
T |
A |
15: 82,198,311 (GRCm39) |
S283T |
possibly damaging |
Het |
Wnk1 |
G |
A |
6: 119,928,678 (GRCm39) |
T1092I |
probably 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 |
R0586:Parp14
|
UTSW |
16 |
35,661,382 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- AGGCTCTACACTTGGTCTCC -3'
(R):5'- TGTTGACTGTATCAGCCACCG -3'
Sequencing Primer
(F):5'- TGACAGCCTGCATCATGG -3'
(R):5'- TGTATCAGCCACCGCTCAAATC -3'
|
Posted On |
2022-04-18 |