Incidental Mutation 'R9366:Parp14'
ID |
709011 |
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 # |
R9366 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
35653244-35691914 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to C
at 35659630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000042665
|
SMART Domains |
Protein: ENSMUSP00000037657 Gene: ENSMUSG00000034422
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: 99.7%
- 20x: 99.1%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
C |
T |
8: 71,914,328 (GRCm39) |
R100Q |
probably benign |
Het |
Acp5 |
C |
T |
9: 22,039,224 (GRCm39) |
C163Y |
probably damaging |
Het |
Ankrd17 |
C |
T |
5: 90,416,508 (GRCm39) |
R1108Q |
probably damaging |
Het |
Atp2b4 |
C |
A |
1: 133,642,920 (GRCm39) |
G1062C |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,117,558 (GRCm39) |
M788K |
possibly damaging |
Het |
C1s2 |
C |
A |
6: 124,602,694 (GRCm39) |
A506S |
probably benign |
Het |
Capn9 |
C |
G |
8: 125,332,280 (GRCm39) |
T417S |
probably benign |
Het |
Cd109 |
T |
G |
9: 78,622,275 (GRCm39) |
S1422A |
probably benign |
Het |
Cd207 |
G |
T |
6: 83,648,779 (GRCm39) |
N294K |
probably damaging |
Het |
Cdc42bpa |
A |
G |
1: 179,921,675 (GRCm39) |
E605G |
probably damaging |
Het |
Cdhr1 |
C |
A |
14: 36,811,463 (GRCm39) |
G216V |
possibly damaging |
Het |
Ckap2 |
A |
T |
8: 22,658,988 (GRCm39) |
M585K |
possibly damaging |
Het |
Clp1 |
G |
T |
2: 84,556,473 (GRCm39) |
S2R |
probably benign |
Het |
Cngb3 |
G |
T |
4: 19,395,983 (GRCm39) |
V342F |
probably benign |
Het |
Col18a1 |
T |
C |
10: 76,932,258 (GRCm39) |
D65G |
unknown |
Het |
Col3a1 |
C |
T |
1: 45,380,391 (GRCm39) |
P972S |
unknown |
Het |
Cxcr5 |
C |
T |
9: 44,424,730 (GRCm39) |
C309Y |
possibly damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcc |
A |
T |
18: 71,708,281 (GRCm39) |
N478K |
probably damaging |
Het |
Emb |
G |
T |
13: 117,357,096 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
T |
7: 98,290,860 (GRCm39) |
N101K |
probably benign |
Het |
Epb41l5 |
A |
G |
1: 119,548,448 (GRCm39) |
Y137H |
probably damaging |
Het |
Etfdh |
C |
T |
3: 79,519,271 (GRCm39) |
G354D |
probably benign |
Het |
Fa2h |
A |
T |
8: 112,076,006 (GRCm39) |
Y206N |
probably benign |
Het |
Gabrr2 |
T |
C |
4: 33,085,771 (GRCm39) |
V217A |
|
Het |
Gimap4 |
A |
G |
6: 48,668,037 (GRCm39) |
K264R |
probably benign |
Het |
Gpr31b |
C |
A |
17: 13,270,375 (GRCm39) |
D265Y |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,417,025 (GRCm39) |
T474A |
probably benign |
Het |
Kif21a |
T |
C |
15: 90,843,951 (GRCm39) |
E1096G |
probably damaging |
Het |
Letm2 |
A |
T |
8: 26,084,165 (GRCm39) |
V22E |
probably damaging |
Het |
Lrrc45 |
A |
G |
11: 120,611,552 (GRCm39) |
E642G |
probably damaging |
Het |
Mark1 |
A |
T |
1: 184,653,792 (GRCm39) |
V170E |
probably damaging |
Het |
Mbd6 |
G |
A |
10: 127,122,304 (GRCm39) |
Q175* |
probably null |
Het |
Mrc1 |
T |
A |
2: 14,321,709 (GRCm39) |
D1067E |
probably damaging |
Het |
Muc5b |
A |
G |
7: 141,417,041 (GRCm39) |
H3329R |
probably benign |
Het |
Myh1 |
A |
T |
11: 67,110,114 (GRCm39) |
D1434V |
probably damaging |
Het |
Myo5a |
T |
A |
9: 75,124,800 (GRCm39) |
L1785Q |
probably damaging |
Het |
Myrfl |
A |
G |
10: 116,670,358 (GRCm39) |
I295T |
possibly damaging |
Het |
Nav3 |
C |
A |
10: 109,659,364 (GRCm39) |
R751L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,172,699 (GRCm39) |
K1536R |
probably benign |
Het |
Nynrin |
T |
G |
14: 56,100,587 (GRCm39) |
S126A |
probably damaging |
Het |
Or13p3 |
A |
T |
4: 118,566,831 (GRCm39) |
T76S |
probably damaging |
Het |
Or5m8 |
A |
G |
2: 85,822,731 (GRCm39) |
D190G |
possibly damaging |
Het |
Or6c69c |
A |
T |
10: 129,911,067 (GRCm39) |
K263* |
probably null |
Het |
Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
Pin1 |
C |
A |
9: 20,566,841 (GRCm39) |
T81N |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,410,308 (GRCm39) |
I2605T |
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,937,658 (GRCm39) |
|
probably null |
Het |
Proser3 |
G |
A |
7: 30,248,478 (GRCm39) |
S72L |
probably damaging |
Het |
Pum2 |
T |
A |
12: 8,783,344 (GRCm39) |
S598T |
probably benign |
Het |
Pwp1 |
T |
A |
10: 85,717,870 (GRCm39) |
N269K |
probably damaging |
Het |
Qsox1 |
A |
G |
1: 155,665,162 (GRCm39) |
S260P |
probably benign |
Het |
Ric3 |
A |
G |
7: 108,653,644 (GRCm39) |
L149P |
probably damaging |
Het |
Rif1 |
A |
G |
2: 52,010,356 (GRCm39) |
T707A |
|
Het |
Rnf213 |
A |
C |
11: 119,327,057 (GRCm39) |
R1682S |
|
Het |
Rpgrip1l |
G |
T |
8: 91,996,809 (GRCm39) |
Y690* |
probably null |
Het |
Slc29a2 |
A |
G |
19: 5,074,609 (GRCm39) |
T34A |
probably damaging |
Het |
Slc6a1 |
A |
G |
6: 114,280,974 (GRCm39) |
N176S |
possibly damaging |
Het |
Slco1b2 |
T |
A |
6: 141,602,552 (GRCm39) |
Y168* |
probably null |
Het |
Snca |
C |
A |
6: 60,792,675 (GRCm39) |
A78S |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,058,010 (GRCm39) |
D257E |
probably benign |
Het |
Srebf2 |
T |
C |
15: 82,083,837 (GRCm39) |
V959A |
probably benign |
Het |
Stk3 |
A |
C |
15: 35,072,634 (GRCm39) |
I209S |
probably damaging |
Het |
Thsd7a |
A |
T |
6: 12,555,480 (GRCm39) |
C135S |
|
Het |
Tlnrd1 |
G |
T |
7: 83,531,582 (GRCm39) |
A283E |
probably benign |
Het |
Tomm70a |
A |
T |
16: 56,970,259 (GRCm39) |
K546* |
probably null |
Het |
Trak1 |
C |
T |
9: 121,301,578 (GRCm39) |
T778I |
probably damaging |
Het |
Trappc9 |
T |
C |
15: 72,808,937 (GRCm39) |
I709V |
probably benign |
Het |
Trgc3 |
A |
G |
13: 19,446,825 (GRCm39) |
T115A |
probably benign |
Het |
Trp53rkb |
T |
C |
2: 166,637,700 (GRCm39) |
S219P |
possibly damaging |
Het |
Ubqlnl |
G |
C |
7: 103,798,592 (GRCm39) |
L302V |
possibly damaging |
Het |
Uqcc1 |
C |
A |
2: 155,771,995 (GRCm39) |
|
probably benign |
Het |
Vps13a |
G |
A |
19: 16,672,894 (GRCm39) |
R1293W |
probably damaging |
Het |
Vps9d1 |
G |
T |
8: 123,974,486 (GRCm39) |
S267* |
probably null |
Het |
Vwa5b1 |
A |
T |
4: 138,318,229 (GRCm39) |
I546N |
probably damaging |
Het |
Zbtb8b |
A |
T |
4: 129,326,151 (GRCm39) |
M338K |
probably benign |
Het |
Zfp652 |
C |
T |
11: 95,643,833 (GRCm39) |
R344* |
probably null |
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 |
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'- GGCCTTGTCATGCATCAATAAGAG -3'
(R):5'- CTACATGGGAGCCCTTCATG -3'
Sequencing Primer
(F):5'- GTCCTGTGAAGGCTCAATTCCAG -3'
(R):5'- ACATGGGAGCCCTTCATGTCTAC -3'
|
Posted On |
2022-04-18 |