Incidental Mutation 'IGL02197:Papola'
| ID |
284074 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
IGL02197
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105795442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 631
(N631I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000166329]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021535
AA Change: N631I
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: N631I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.5e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
2.4e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
8.9e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109901
AA Change: N631I
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: N631I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
17 |
N/A |
INTRINSIC |
|
Pfam:PAP_central
|
21 |
364 |
4.1e-120 |
PFAM |
|
Pfam:NTP_transf_2
|
82 |
175 |
8.1e-16 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
435 |
4.1e-21 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163473
AA Change: N631I
PolyPhen 2
Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: N631I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
9.2e-112 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.3e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.6e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
667 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164798
AA Change: N301I
|
| SMART Domains |
Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: N301I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
36 |
5.3e-8 |
PFAM |
|
Pfam:PAP_RNA-bind
|
38 |
106 |
8.5e-22 |
PFAM |
|
low complexity region
|
190 |
206 |
N/A |
INTRINSIC |
|
low complexity region
|
254 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
276 |
293 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166329
|
| SMART Domains |
Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166471
AA Change: N319I
|
| SMART Domains |
Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: N319I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
1 |
53 |
9.5e-21 |
PFAM |
|
Pfam:PAP_RNA-bind
|
55 |
123 |
1.3e-21 |
PFAM |
|
low complexity region
|
207 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
335 |
357 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168186
AA Change: N631I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: N631I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1.1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.6e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
5e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
712 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170002
AA Change: N631I
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: N631I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
365 |
1e-111 |
PFAM |
|
Pfam:NTP_transf_2
|
75 |
175 |
3.5e-11 |
PFAM |
|
Pfam:PAP_RNA-bind
|
366 |
508 |
4.8e-38 |
PFAM |
|
low complexity region
|
518 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
622 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000172089
AA Change: N39I
|
| SMART Domains |
Protein: ENSMUSP00000131729
Gene: ENSMUSG00000021111
AA Change: N39I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169938
|
| SMART Domains |
Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
157 |
4.5e-17 |
PFAM |
|
Pfam:NTP_transf_2
|
74 |
166 |
2.3e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the poly(A) polymerase family. It is required for the addition of adenosine residues for the creation of the 3'-poly(A) tail of mRNAs. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
T |
C |
2: 20,885,117 (GRCm39) |
S526G |
probably benign |
Het |
| Atad2b |
A |
T |
12: 5,068,056 (GRCm39) |
N1018I |
possibly damaging |
Het |
| Baz1b |
A |
G |
5: 135,237,951 (GRCm39) |
E209G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 36,960,884 (GRCm39) |
T445A |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,950,782 (GRCm39) |
T264S |
probably benign |
Het |
| Cdh1 |
A |
G |
8: 107,380,418 (GRCm39) |
E187G |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,196,923 (GRCm39) |
I325V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,687,152 (GRCm39) |
|
probably benign |
Het |
| Dnaaf3 |
T |
C |
7: 4,530,496 (GRCm39) |
D203G |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,878,441 (GRCm39) |
Y1045C |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,912,586 (GRCm39) |
D689V |
possibly damaging |
Het |
| Fnip1 |
T |
A |
11: 54,384,200 (GRCm39) |
L342I |
probably damaging |
Het |
| Frk |
T |
A |
10: 34,360,330 (GRCm39) |
N110K |
probably damaging |
Het |
| Gm5134 |
T |
C |
10: 75,790,536 (GRCm39) |
|
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,163 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9936 |
A |
G |
5: 114,995,152 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
A |
G |
13: 55,162,281 (GRCm39) |
F108L |
probably damaging |
Het |
| Homer2 |
A |
T |
7: 81,260,147 (GRCm39) |
S296T |
probably benign |
Het |
| Itga2b |
T |
A |
11: 102,357,145 (GRCm39) |
H245L |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,985 (GRCm39) |
F299S |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,849,012 (GRCm39) |
Y224H |
possibly damaging |
Het |
| Leng9 |
G |
T |
7: 4,151,723 (GRCm39) |
L318I |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,608,408 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,297,224 (GRCm39) |
I3246V |
probably benign |
Het |
| Map2k3 |
A |
G |
11: 60,837,590 (GRCm39) |
Y230C |
probably damaging |
Het |
| Myef2 |
T |
C |
2: 124,955,959 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
T |
11: 66,989,409 (GRCm39) |
I1510L |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,959,057 (GRCm39) |
D1088G |
possibly damaging |
Het |
| Nek9 |
C |
A |
12: 85,354,704 (GRCm39) |
V745L |
probably null |
Het |
| Neu1 |
T |
A |
17: 35,153,641 (GRCm39) |
V355D |
possibly damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,028 (GRCm39) |
T73A |
probably benign |
Het |
| Or6e1 |
T |
C |
14: 54,519,409 (GRCm39) |
*314W |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,965,878 (GRCm39) |
S682P |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,039,925 (GRCm39) |
S2071P |
possibly damaging |
Het |
| Pga5 |
A |
G |
19: 10,649,277 (GRCm39) |
|
probably benign |
Het |
| Phlda1 |
T |
A |
10: 111,343,014 (GRCm39) |
M250K |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,253,869 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
A |
G |
15: 85,699,994 (GRCm39) |
Y1981H |
possibly damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,663 (GRCm39) |
P108S |
probably benign |
Het |
| Ptprg |
T |
G |
14: 12,220,613 (GRCm38) |
F442V |
probably damaging |
Het |
| Rab36 |
A |
G |
10: 74,887,874 (GRCm39) |
I248M |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,113 (GRCm39) |
R257Q |
probably null |
Het |
| Sdc1 |
A |
G |
12: 8,840,835 (GRCm39) |
Q200R |
possibly damaging |
Het |
| Slc10a7 |
A |
G |
8: 79,242,292 (GRCm39) |
T60A |
probably damaging |
Het |
| Snx13 |
A |
G |
12: 35,156,800 (GRCm39) |
D484G |
probably damaging |
Het |
| Tlr1 |
G |
A |
5: 65,083,797 (GRCm39) |
T260M |
probably damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,691,596 (GRCm39) |
V286A |
probably damaging |
Het |
| Traip |
T |
G |
9: 107,845,936 (GRCm39) |
L343R |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,165,828 (GRCm39) |
H204R |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,224 (GRCm39) |
S960G |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,180,184 (GRCm39) |
P129L |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,930,202 (GRCm39) |
F3980I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,854,879 (GRCm39) |
N2248S |
probably benign |
Het |
| Vps26c |
G |
T |
16: 94,302,549 (GRCm39) |
|
probably benign |
Het |
| Wnk4 |
T |
C |
11: 101,154,783 (GRCm39) |
L324P |
probably damaging |
Het |
|
| Other mutations in Papola |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01140:Papola
|
APN |
12 |
105,775,856 (GRCm39) |
nonsense |
probably null |
|
|
IGL02511:Papola
|
APN |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02608:Papola
|
APN |
12 |
105,775,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03081:Papola
|
APN |
12 |
105,785,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03378:Papola
|
APN |
12 |
105,775,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03401:Papola
|
APN |
12 |
105,795,381 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0027:Papola
|
UTSW |
12 |
105,799,395 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0325:Papola
|
UTSW |
12 |
105,773,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Papola
|
UTSW |
12 |
105,785,097 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1553:Papola
|
UTSW |
12 |
105,786,669 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1746:Papola
|
UTSW |
12 |
105,773,468 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1954:Papola
|
UTSW |
12 |
105,794,532 (GRCm39) |
splice site |
probably null |
|
|
R2424:Papola
|
UTSW |
12 |
105,793,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4133:Papola
|
UTSW |
12 |
105,765,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4156:Papola
|
UTSW |
12 |
105,767,010 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4718:Papola
|
UTSW |
12 |
105,786,707 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4814:Papola
|
UTSW |
12 |
105,765,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5237:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5372:Papola
|
UTSW |
12 |
105,793,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5420:Papola
|
UTSW |
12 |
105,772,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5430:Papola
|
UTSW |
12 |
105,775,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Papola
|
UTSW |
12 |
105,789,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5944:Papola
|
UTSW |
12 |
105,778,644 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5956:Papola
|
UTSW |
12 |
105,777,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6143:Papola
|
UTSW |
12 |
105,793,219 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6193:Papola
|
UTSW |
12 |
105,786,605 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6413:Papola
|
UTSW |
12 |
105,772,763 (GRCm39) |
start gained |
probably benign |
|
|
R6490:Papola
|
UTSW |
12 |
105,771,196 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6649:Papola
|
UTSW |
12 |
105,778,566 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6891:Papola
|
UTSW |
12 |
105,775,950 (GRCm39) |
unclassified |
probably benign |
|
|
R7147:Papola
|
UTSW |
12 |
105,774,897 (GRCm39) |
start gained |
probably benign |
|
|
R7177:Papola
|
UTSW |
12 |
105,775,790 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7178:Papola
|
UTSW |
12 |
105,773,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Papola
|
UTSW |
12 |
105,775,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7583:Papola
|
UTSW |
12 |
105,777,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Papola
|
UTSW |
12 |
105,775,836 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8945:Papola
|
UTSW |
12 |
105,775,946 (GRCm39) |
unclassified |
probably benign |
|
|
R9177:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9249:Papola
|
UTSW |
12 |
105,799,403 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Papola
|
UTSW |
12 |
105,766,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation