Incidental Mutation 'R5237:Papola'
| ID |
398563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| MMRRC Submission |
042808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R5237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105793219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 513
(V513A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000166329]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021535
AA Change: V513A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: V513A
| 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 |
probably benign
Transcript: ENSMUST00000109901
AA Change: V513A
PolyPhen 2
Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: V513A
| 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 |
probably benign
Transcript: ENSMUST00000163473
AA Change: V513A
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: V513A
| 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: V184A
|
| SMART Domains |
Protein: ENSMUSP00000125898
Gene: ENSMUSG00000021111
AA Change: V184A
| 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: V201A
|
| SMART Domains |
Protein: ENSMUSP00000132353
Gene: ENSMUSG00000021111
AA Change: V201A
| 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 |
probably benign
Transcript: ENSMUST00000168186
AA Change: V513A
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: V513A
| 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 |
probably benign
Transcript: ENSMUST00000170002
AA Change: V513A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: V513A
| 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 |
probably benign
Transcript: ENSMUST00000172089
|
| SMART Domains |
Protein: ENSMUSP00000131729
Gene: ENSMUSG00000021111
| 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 |
|
| Meta Mutation Damage Score |
0.0697 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
100% (76/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,850 (GRCm39) |
W369* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,923,236 (GRCm39) |
M190K |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,303,906 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
A |
T |
11: 7,099,553 (GRCm39) |
I678L |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,817 (GRCm39) |
S27P |
probably benign |
Het |
| Ankrd24 |
C |
A |
10: 81,478,379 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,296,844 (GRCm39) |
V383L |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,150,802 (GRCm39) |
V1105A |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,730 (GRCm39) |
S684T |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,550,444 (GRCm39) |
L360P |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,544 (GRCm39) |
Q428L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,295,068 (GRCm39) |
|
probably benign |
Het |
| Cpeb2 |
G |
A |
5: 43,443,099 (GRCm39) |
C930Y |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,393 (GRCm39) |
D103G |
probably benign |
Het |
| Cyb5a |
T |
G |
18: 84,889,689 (GRCm39) |
F39L |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,207 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,486,690 (GRCm39) |
|
probably null |
Het |
| Efcab9 |
A |
T |
11: 32,472,832 (GRCm39) |
I205K |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,107,819 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
C |
A |
15: 100,591,274 (GRCm39) |
C610F |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Gcc1 |
A |
T |
6: 28,420,651 (GRCm39) |
I222K |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,631 (GRCm39) |
H146L |
probably benign |
Het |
| H2-T23 |
C |
T |
17: 36,341,258 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,304,728 (GRCm39) |
I3124N |
probably benign |
Het |
| Hsf2 |
C |
A |
10: 57,382,317 (GRCm39) |
D364E |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,738,016 (GRCm39) |
T250A |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,197,487 (GRCm39) |
E372G |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,478,169 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,601,609 (GRCm39) |
Y524C |
probably damaging |
Het |
| Mfsd6l |
C |
A |
11: 68,448,096 (GRCm39) |
Q316K |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,757,840 (GRCm39) |
T417A |
possibly damaging |
Het |
| Mymk |
T |
C |
2: 26,952,200 (GRCm39) |
*181W |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,087,505 (GRCm39) |
T1093A |
probably benign |
Het |
| Or10al4 |
T |
A |
17: 38,037,268 (GRCm39) |
C118S |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,732 (GRCm39) |
V206A |
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,513 (GRCm39) |
K327* |
probably null |
Het |
| Or8b54 |
C |
T |
9: 38,687,252 (GRCm39) |
R234W |
probably damaging |
Het |
| Pex26 |
T |
A |
6: 121,162,806 (GRCm39) |
L119Q |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,568,249 (GRCm39) |
I1219V |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,095,251 (GRCm39) |
V64A |
probably benign |
Het |
| Plekho1 |
A |
G |
3: 95,902,937 (GRCm39) |
V24A |
probably damaging |
Het |
| Pon2 |
A |
C |
6: 5,265,455 (GRCm39) |
S311A |
probably benign |
Het |
| Pramel31 |
G |
T |
4: 144,089,041 (GRCm39) |
E120* |
probably null |
Het |
| Rsrc2 |
T |
C |
5: 123,877,645 (GRCm39) |
|
probably benign |
Het |
| Selenov |
T |
C |
7: 27,987,572 (GRCm39) |
D295G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,595,075 (GRCm39) |
Y48F |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,190 (GRCm39) |
D1159V |
possibly damaging |
Het |
| Setx |
C |
T |
2: 29,036,995 (GRCm39) |
T1160I |
probably benign |
Het |
| Sin3b |
A |
C |
8: 73,459,971 (GRCm39) |
|
probably null |
Het |
| Skint11 |
A |
G |
4: 114,102,042 (GRCm39) |
K352E |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,919,118 (GRCm39) |
V914E |
possibly damaging |
Het |
| Srgap1 |
A |
G |
10: 121,643,788 (GRCm39) |
Y633H |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,839 (GRCm39) |
D2032G |
probably damaging |
Het |
| Sv2c |
G |
A |
13: 96,118,391 (GRCm39) |
T486I |
possibly damaging |
Het |
| Tesk1 |
T |
C |
4: 43,447,100 (GRCm39) |
F496S |
probably damaging |
Het |
| Tfg |
T |
A |
16: 56,533,071 (GRCm39) |
E29D |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,880,333 (GRCm39) |
T2038I |
probably damaging |
Het |
| Tor4a |
T |
G |
2: 25,084,976 (GRCm39) |
N309T |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,003,821 (GRCm39) |
T257A |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,790,828 (GRCm39) |
A621V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r6 |
A |
C |
6: 56,980,179 (GRCm39) |
Q258H |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,863 (GRCm39) |
C786R |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,953 (GRCm39) |
D638G |
probably benign |
Het |
| Zfp934 |
A |
G |
13: 62,665,652 (GRCm39) |
C330R |
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 |
|
|
IGL02197:Papola
|
APN |
12 |
105,795,442 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGTGTAAATCAGCACAAGTAG -3'
(R):5'- TTAACAAACAAATGGTTCCTCTCCC -3'
Sequencing Primer
(F):5'- CACAAGTAGTGTTCACTTCTCATTAC -3'
(R):5'- AAATGGTTCCTCTCCCCTGCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation