Incidental Mutation 'R7256:Papola'
ID |
564290 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papola
|
Ensembl Gene |
ENSMUSG00000021111 |
Gene Name |
poly (A) polymerase alpha |
Synonyms |
PapIII, Plap |
MMRRC Submission |
045317-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.907)
|
Stock # |
R7256 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105775604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 204
(C204S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
[ENSMUST00000170540]
[ENSMUST00000166329]
|
AlphaFold |
Q61183 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021535
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021535 Gene: ENSMUSG00000021111 AA Change: C204S
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 damaging
Transcript: ENSMUST00000109901
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105527 Gene: ENSMUSG00000021111 AA Change: C204S
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 damaging
Transcript: ENSMUST00000163473
AA Change: C204S
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000131668 Gene: ENSMUSG00000021111 AA Change: C204S
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 |
noncoding transcript
Transcript: ENSMUST00000163805
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164326
|
SMART Domains |
Protein: ENSMUSP00000125818 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164798
|
SMART Domains |
Protein: ENSMUSP00000125898 Gene: ENSMUSG00000021111
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 |
noncoding transcript
Transcript: ENSMUST00000165584
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166735
AA Change: C204S
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128908 Gene: ENSMUSG00000021111 AA Change: C204S
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
283 |
9.4e-73 |
PFAM |
Pfam:NTP_transf_2
|
72 |
175 |
5.7e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168186
AA Change: C204S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128402 Gene: ENSMUSG00000021111 AA Change: C204S
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 damaging
Transcript: ENSMUST00000170002
AA Change: C204S
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126275 Gene: ENSMUSG00000021111 AA Change: C204S
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 |
silent
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000130798 Gene: ENSMUSG00000021111 AA Change: C19S
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
1 |
95 |
5e-58 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172040
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166471
|
SMART Domains |
Protein: ENSMUSP00000132353 Gene: ENSMUSG00000021111
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 |
|
Meta Mutation Damage Score |
0.9190 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (70/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
G |
16: 85,659,923 (GRCm39) |
Y790H |
probably damaging |
Het |
Bend3 |
A |
C |
10: 43,369,667 (GRCm39) |
S7R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,431,997 (GRCm39) |
A1832V |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,288,851 (GRCm39) |
E338G |
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cecr2 |
T |
C |
6: 120,739,490 (GRCm39) |
S1406P |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,382,360 (GRCm39) |
T208A |
probably damaging |
Het |
Cep85l |
A |
C |
10: 53,172,351 (GRCm39) |
C569W |
probably damaging |
Het |
Ces5a |
G |
A |
8: 94,226,154 (GRCm39) |
T527I |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,796,608 (GRCm39) |
I200F |
probably damaging |
Het |
Cmas |
G |
A |
6: 142,716,312 (GRCm39) |
D251N |
probably damaging |
Het |
Ctcfl |
G |
T |
2: 172,960,268 (GRCm39) |
A105E |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dctn6 |
A |
T |
8: 34,557,962 (GRCm39) |
I170N |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,321,920 (GRCm39) |
Y3800C |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,724,988 (GRCm39) |
V465I |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,123,058 (GRCm39) |
T646A |
probably benign |
Het |
Etv4 |
T |
A |
11: 101,675,151 (GRCm39) |
|
probably null |
Het |
Exoc3l2 |
T |
C |
7: 19,218,628 (GRCm39) |
V549A |
unknown |
Het |
Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
Fry |
T |
G |
5: 150,390,251 (GRCm39) |
I179S |
|
Het |
Galntl5 |
A |
G |
5: 25,400,298 (GRCm39) |
H109R |
probably benign |
Het |
Garem1 |
C |
A |
18: 21,281,811 (GRCm39) |
G182W |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,032,285 (GRCm39) |
Y50N |
possibly damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,615,709 (GRCm39) |
F271I |
probably benign |
Het |
Hivep2 |
G |
T |
10: 14,004,845 (GRCm39) |
S481I |
probably benign |
Het |
Homez |
T |
A |
14: 55,094,877 (GRCm39) |
Q277L |
probably damaging |
Het |
Hoxb4 |
C |
A |
11: 96,210,722 (GRCm39) |
|
probably null |
Het |
Igll1 |
A |
G |
16: 16,678,957 (GRCm39) |
S118P |
probably damaging |
Het |
Ikzf2 |
A |
C |
1: 69,617,212 (GRCm39) |
|
probably null |
Het |
Kif5b |
A |
G |
18: 6,225,340 (GRCm39) |
V230A |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,657,040 (GRCm39) |
V719E |
probably benign |
Het |
Lsm7 |
G |
A |
10: 80,689,565 (GRCm39) |
R66W |
possibly damaging |
Het |
Map3k13 |
T |
A |
16: 21,710,988 (GRCm39) |
D90E |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,953,098 (GRCm39) |
K460E |
probably damaging |
Het |
Myh10 |
A |
C |
11: 68,681,515 (GRCm39) |
N1061H |
probably damaging |
Het |
Nepn |
A |
G |
10: 52,277,089 (GRCm39) |
Q275R |
probably benign |
Het |
Noc3l |
A |
T |
19: 38,800,800 (GRCm39) |
D227E |
probably benign |
Het |
Nploc4 |
G |
T |
11: 120,319,376 (GRCm39) |
S61R |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,381 (GRCm39) |
Y24C |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,553,699 (GRCm39) |
I1143N |
probably damaging |
Het |
Or14a256 |
G |
T |
7: 86,264,873 (GRCm39) |
H327N |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,192,838 (GRCm39) |
Y312N |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,180,004 (GRCm39) |
M57K |
probably damaging |
Het |
Or8h7 |
A |
G |
2: 86,720,956 (GRCm39) |
S188P |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,532,366 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
A |
G |
13: 6,606,633 (GRCm39) |
H229R |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,377 (GRCm39) |
Q906R |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 44,991,167 (GRCm39) |
N1018S |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,452,849 (GRCm39) |
D93E |
probably benign |
Het |
Prkd1 |
A |
G |
12: 50,435,125 (GRCm39) |
V534A |
possibly damaging |
Het |
Pygm |
A |
T |
19: 6,435,926 (GRCm39) |
I126F |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,472,415 (GRCm39) |
Y909C |
probably damaging |
Het |
Rasgrf2 |
G |
A |
13: 92,032,637 (GRCm39) |
Q560* |
probably null |
Het |
Rbp3 |
A |
T |
14: 33,684,540 (GRCm39) |
I1190F |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,183,921 (GRCm39) |
K1693E |
probably benign |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Rsph3a |
A |
G |
17: 8,165,002 (GRCm39) |
T121A |
probably benign |
Het |
Rufy3 |
A |
G |
5: 88,762,806 (GRCm39) |
N112S |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,502,591 (GRCm39) |
Q3548* |
probably null |
Het |
Sardh |
A |
T |
2: 27,108,824 (GRCm39) |
V637D |
probably benign |
Het |
Spata16 |
T |
C |
3: 26,722,016 (GRCm39) |
V179A |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,083,667 (GRCm39) |
E48G |
probably benign |
Het |
Tbc1d30 |
G |
A |
10: 121,124,870 (GRCm39) |
T319I |
probably damaging |
Het |
Tlr2 |
T |
A |
3: 83,744,913 (GRCm39) |
Q390L |
possibly damaging |
Het |
Tmem53 |
C |
T |
4: 117,109,237 (GRCm39) |
|
probably null |
Het |
Vmn1r113 |
T |
A |
7: 20,521,370 (GRCm39) |
I54N |
probably damaging |
Het |
Vmn1r223 |
A |
C |
13: 23,434,036 (GRCm39) |
Y210S |
probably damaging |
Het |
Zbbx |
A |
T |
3: 74,947,205 (GRCm39) |
H670Q |
probably benign |
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 |
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 |
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'- TGTACGTAAGGCTGAGGCTG -3'
(R):5'- TGCCCTGTTGATAAGGGAAAAGC -3'
Sequencing Primer
(F):5'- TGAGGCTGGGCAAACTGC -3'
(R):5'- CCTGTTGATAAGGGAAAAGCAAAAAG -3'
|
Posted On |
2019-06-26 |