Incidental Mutation 'R0372:Papola'
ID |
30553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papola
|
Ensembl Gene |
ENSMUSG00000021111 |
Gene Name |
poly (A) polymerase alpha |
Synonyms |
PapIII, Plap |
MMRRC Submission |
038578-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R0372 (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 105785097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 410
(F410L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000166329]
[ENSMUST00000170002]
[ENSMUST00000168186]
[ENSMUST00000169938]
|
AlphaFold |
Q61183 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021535
AA Change: F410L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000021535 Gene: ENSMUSG00000021111 AA Change: F410L
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: F410L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000105527 Gene: ENSMUSG00000021111 AA Change: F410L
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: F410L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000131668 Gene: ENSMUSG00000021111 AA Change: F410L
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: F81L
|
SMART Domains |
Protein: ENSMUSP00000125898 Gene: ENSMUSG00000021111 AA Change: F81L
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: F98L
|
SMART Domains |
Protein: ENSMUSP00000132353 Gene: ENSMUSG00000021111 AA Change: F98L
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 |
noncoding transcript
Transcript: ENSMUST00000166498
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170002
AA Change: F410L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000126275 Gene: ENSMUSG00000021111 AA Change: F410L
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: ENSMUST00000168186
AA Change: F410L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000128402 Gene: ENSMUSG00000021111 AA Change: F410L
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 |
noncoding transcript
Transcript: ENSMUST00000170189
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169524
|
SMART Domains |
Protein: ENSMUSP00000130798 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
1 |
95 |
5e-58 |
PFAM |
|
Meta Mutation Damage Score |
0.0821 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 88.6%
|
Validation Efficiency |
97% (70/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
T |
A |
14: 64,210,931 (GRCm39) |
Q99L |
probably damaging |
Het |
Abca2 |
A |
G |
2: 25,327,365 (GRCm39) |
Y641C |
probably damaging |
Het |
Abhd10 |
A |
G |
16: 45,557,254 (GRCm39) |
|
probably null |
Het |
Acan |
G |
T |
7: 78,750,349 (GRCm39) |
A1707S |
probably benign |
Het |
Ankrd61 |
T |
A |
5: 143,827,993 (GRCm39) |
R284S |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,559,401 (GRCm39) |
K258E |
probably damaging |
Het |
Arl6ip6 |
T |
G |
2: 53,092,933 (GRCm39) |
F153V |
probably damaging |
Het |
Atp2c2 |
C |
A |
8: 120,484,180 (GRCm39) |
F930L |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,703,309 (GRCm39) |
|
probably null |
Het |
Axin2 |
A |
G |
11: 108,814,159 (GRCm39) |
S16G |
probably damaging |
Het |
Axin2 |
T |
A |
11: 108,814,936 (GRCm39) |
|
probably benign |
Het |
Bbs7 |
A |
T |
3: 36,656,981 (GRCm39) |
D282E |
probably benign |
Het |
Ccny |
A |
T |
18: 9,345,201 (GRCm39) |
V191D |
probably damaging |
Het |
Cdk11b |
A |
G |
4: 155,725,957 (GRCm39) |
|
probably benign |
Het |
Chd1 |
T |
A |
17: 17,607,552 (GRCm39) |
C367S |
probably benign |
Het |
Cnnm4 |
G |
A |
1: 36,537,091 (GRCm39) |
V472M |
probably damaging |
Het |
Cpb2 |
T |
A |
14: 75,479,817 (GRCm39) |
I8N |
probably benign |
Het |
Dusp11 |
A |
G |
6: 85,935,712 (GRCm39) |
|
probably benign |
Het |
Elmo1 |
T |
C |
13: 20,756,629 (GRCm39) |
|
probably null |
Het |
Gbf1 |
C |
T |
19: 46,274,143 (GRCm39) |
P1726S |
probably benign |
Het |
Hal |
A |
G |
10: 93,343,415 (GRCm39) |
|
probably benign |
Het |
Hlcs |
T |
C |
16: 93,939,766 (GRCm39) |
I671V |
possibly damaging |
Het |
Ifnab |
A |
G |
4: 88,609,071 (GRCm39) |
S132P |
probably benign |
Het |
Ing5 |
T |
C |
1: 93,740,142 (GRCm39) |
I70T |
probably damaging |
Het |
Ints1 |
T |
C |
5: 139,758,193 (GRCm39) |
N228S |
probably damaging |
Het |
Itgb6 |
T |
A |
2: 60,458,185 (GRCm39) |
I523F |
probably benign |
Het |
Kat2b |
T |
C |
17: 53,945,565 (GRCm39) |
F328S |
possibly damaging |
Het |
Kbtbd3 |
A |
T |
9: 4,316,950 (GRCm39) |
I34F |
possibly damaging |
Het |
Klhl11 |
A |
T |
11: 100,354,348 (GRCm39) |
I491N |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,155,489 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
G |
T |
10: 127,428,005 (GRCm39) |
P523T |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,620,810 (GRCm39) |
D3556V |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,365,387 (GRCm39) |
H262L |
probably benign |
Het |
Lrrc27 |
T |
A |
7: 138,806,103 (GRCm39) |
I256K |
probably benign |
Het |
Lrrc47 |
G |
A |
4: 154,104,089 (GRCm39) |
R523K |
probably benign |
Het |
Lrrc71 |
A |
T |
3: 87,653,084 (GRCm39) |
S111T |
probably benign |
Het |
Map3k7cl |
T |
C |
16: 87,378,100 (GRCm39) |
V72A |
probably damaging |
Het |
Mphosph10 |
G |
T |
7: 64,038,603 (GRCm39) |
|
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,148,657 (GRCm39) |
|
probably benign |
Het |
Nsd2 |
A |
T |
5: 34,048,895 (GRCm39) |
M1140L |
probably damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,661,155 (GRCm39) |
M440T |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,164,259 (GRCm39) |
L424Q |
probably damaging |
Het |
Or5h17 |
T |
C |
16: 58,820,450 (GRCm39) |
V134A |
probably benign |
Het |
Orc5 |
A |
T |
5: 22,738,782 (GRCm39) |
Y160N |
possibly damaging |
Het |
Pcdh10 |
A |
G |
3: 45,333,932 (GRCm39) |
E82G |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,706,439 (GRCm39) |
Y287C |
probably damaging |
Het |
Pld1 |
T |
A |
3: 28,142,787 (GRCm39) |
|
probably null |
Het |
Plekha8 |
G |
A |
6: 54,593,743 (GRCm39) |
|
probably null |
Het |
Ppbp |
C |
T |
5: 90,917,202 (GRCm39) |
T93M |
possibly damaging |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Rab3gap2 |
C |
T |
1: 184,994,891 (GRCm39) |
T810M |
possibly damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,872 (GRCm39) |
N418S |
possibly damaging |
Het |
Rnf20 |
C |
G |
4: 49,650,176 (GRCm39) |
R582G |
possibly damaging |
Het |
Serpine2 |
T |
C |
1: 79,799,147 (GRCm39) |
I36V |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,529 (GRCm39) |
V175E |
probably damaging |
Het |
Sned1 |
T |
C |
1: 93,213,673 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Spg11 |
GCC |
G |
2: 121,889,928 (GRCm39) |
|
probably null |
Het |
Tecrl |
C |
T |
5: 83,442,506 (GRCm39) |
C189Y |
probably damaging |
Het |
Tert |
A |
G |
13: 73,797,110 (GRCm39) |
D1116G |
probably damaging |
Het |
Thnsl2 |
T |
C |
6: 71,116,774 (GRCm39) |
Y126C |
probably damaging |
Het |
Tll2 |
T |
C |
19: 41,171,752 (GRCm39) |
|
probably null |
Het |
Ubqln4 |
C |
T |
3: 88,463,276 (GRCm39) |
S147L |
probably benign |
Het |
Ugt2b5 |
A |
T |
5: 87,288,117 (GRCm39) |
C17S |
probably benign |
Het |
Vps41 |
A |
T |
13: 19,026,417 (GRCm39) |
Q505L |
probably benign |
Het |
Zfp386 |
T |
C |
12: 116,018,436 (GRCm39) |
M35T |
possibly damaging |
Het |
Zfp777 |
T |
C |
6: 48,021,410 (GRCm39) |
M71V |
possibly damaging |
Het |
Zfp938 |
A |
T |
10: 82,063,662 (GRCm39) |
L34Q |
probably damaging |
Het |
Zfp974 |
A |
T |
7: 27,620,120 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTCAAGTATTTCTCAGAACCGCTC -3'
(R):5'- AAGGCACACTACACTTCCTGATGAAAG -3'
Sequencing Primer
(F):5'- CAGAACCGCTCTGTTTGGATAAAG -3'
(R):5'- ccagaagttccaggccag -3'
|
Posted On |
2013-04-24 |