Incidental Mutation 'R3802:Papolg'
| ID |
274367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papolg
|
| Ensembl Gene |
ENSMUSG00000020273 |
| Gene Name |
poly(A) polymerase gamma |
| Synonyms |
9630006B20Rik |
| MMRRC Submission |
040761-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R3802 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
23812646-23845253 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23826449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 235
(I235N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020513]
[ENSMUST00000102863]
|
| AlphaFold |
Q6PCL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020513
AA Change: I235N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020513
Gene: ENSMUSG00000020273
AA Change: I235N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
20 |
363 |
1.4e-118 |
PFAM |
|
Pfam:NTP_transf_2
|
53 |
174 |
2.8e-15 |
PFAM |
|
Pfam:PAP_RNA-bind
|
365 |
431 |
2.4e-22 |
PFAM |
|
Pfam:PAP_RNA-bind
|
421 |
506 |
1.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102863
AA Change: I235N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099927
Gene: ENSMUSG00000020273
AA Change: I235N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
16 |
364 |
1.5e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
89 |
174 |
9.2e-12 |
PFAM |
|
Pfam:PAP_RNA-bind
|
365 |
429 |
6.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150711
|
| Meta Mutation Damage Score |
0.9459 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (47/47) |
| 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(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
| Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
| Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
| Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
| Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
| Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
| Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
| Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
| Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
| Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
| Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,582,943 (GRCm39) |
D309N |
possibly damaging |
Het |
| Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
| Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
| Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
| Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
| Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
| Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,072,877 (GRCm39) |
F166L |
possibly damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
| Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
| Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
| Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
| Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
| Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
| Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
| Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
| Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
| Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
| Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Papolg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Papolg
|
APN |
11 |
23,826,377 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01016:Papolg
|
APN |
11 |
23,835,570 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01394:Papolg
|
APN |
11 |
23,817,235 (GRCm39) |
missense |
probably benign |
|
|
IGL01710:Papolg
|
APN |
11 |
23,814,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01786:Papolg
|
APN |
11 |
23,824,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Papolg
|
APN |
11 |
23,829,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02127:Papolg
|
APN |
11 |
23,820,870 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02329:Papolg
|
APN |
11 |
23,841,869 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02535:Papolg
|
APN |
11 |
23,840,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02588:Papolg
|
APN |
11 |
23,840,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Papolg
|
APN |
11 |
23,845,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03301:Papolg
|
APN |
11 |
23,824,503 (GRCm39) |
missense |
probably benign |
0.05 |
|
Runningback
|
UTSW |
11 |
23,823,919 (GRCm39) |
splice site |
probably null |
|
|
R0124:Papolg
|
UTSW |
11 |
23,817,535 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0369:Papolg
|
UTSW |
11 |
23,822,425 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0454:Papolg
|
UTSW |
11 |
23,829,868 (GRCm39) |
splice site |
probably null |
|
|
R0743:Papolg
|
UTSW |
11 |
23,820,818 (GRCm39) |
splice site |
probably null |
|
|
R0931:Papolg
|
UTSW |
11 |
23,832,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1856:Papolg
|
UTSW |
11 |
23,817,379 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1940:Papolg
|
UTSW |
11 |
23,817,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2239:Papolg
|
UTSW |
11 |
23,826,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4275:Papolg
|
UTSW |
11 |
23,818,378 (GRCm39) |
missense |
probably benign |
|
|
R4989:Papolg
|
UTSW |
11 |
23,823,919 (GRCm39) |
splice site |
probably null |
|
|
R5074:Papolg
|
UTSW |
11 |
23,817,331 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5122:Papolg
|
UTSW |
11 |
23,817,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6048:Papolg
|
UTSW |
11 |
23,841,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6365:Papolg
|
UTSW |
11 |
23,832,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Papolg
|
UTSW |
11 |
23,829,857 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7117:Papolg
|
UTSW |
11 |
23,845,207 (GRCm39) |
start gained |
probably benign |
|
|
R7283:Papolg
|
UTSW |
11 |
23,817,394 (GRCm39) |
missense |
not run |
|
|
R7372:Papolg
|
UTSW |
11 |
23,816,439 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7761:Papolg
|
UTSW |
11 |
23,841,884 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8503:Papolg
|
UTSW |
11 |
23,820,292 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9212:Papolg
|
UTSW |
11 |
23,823,817 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGAAACCACTATGCCTGG -3'
(R):5'- TATGTACATTAGGGAACAGGGC -3'
Sequencing Primer
(F):5'- GAAACCACTATGCCTGGCTATAG -3'
(R):5'- CAGAGAGCCAGAAGTAGAAACC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation