Incidental Mutation 'R5956:Papola'
ID |
471202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Papola
|
Ensembl Gene |
ENSMUSG00000021111 |
Gene Name |
poly (A) polymerase alpha |
Synonyms |
PapIII, Plap |
MMRRC Submission |
044144-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.907)
|
Stock # |
R5956 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 105777300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 281
(W281R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000168186]
[ENSMUST00000170002]
[ENSMUST00000169938]
[ENSMUST00000166329]
[ENSMUST00000166735]
[ENSMUST00000170540]
|
AlphaFold |
Q61183 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021535
AA Change: W281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021535 Gene: ENSMUSG00000021111 AA Change: W281R
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: W281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105527 Gene: ENSMUSG00000021111 AA Change: W281R
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: W281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131668 Gene: ENSMUSG00000021111 AA Change: W281R
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 |
noncoding transcript
Transcript: ENSMUST00000166498
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168186
AA Change: W281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128402 Gene: ENSMUSG00000021111 AA Change: W281R
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: W281R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126275 Gene: ENSMUSG00000021111 AA Change: W281R
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 |
noncoding transcript
Transcript: ENSMUST00000170831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172040
|
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: ENSMUST00000166329
|
SMART Domains |
Protein: ENSMUSP00000131725 Gene: ENSMUSG00000021111
Domain | Start | End | E-Value | Type |
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166735
|
SMART Domains |
Protein: ENSMUSP00000128908 Gene: ENSMUSG00000021111
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 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 |
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
Meta Mutation Damage Score |
0.9744 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
98% (63/64) |
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 |
2700049A03Rik |
T |
A |
12: 71,203,893 (GRCm39) |
I398K |
possibly damaging |
Het |
Acad9 |
A |
G |
3: 36,129,323 (GRCm39) |
|
probably benign |
Het |
Acsm2 |
T |
C |
7: 119,153,704 (GRCm39) |
S5P |
unknown |
Het |
Akp3 |
T |
C |
1: 87,054,667 (GRCm39) |
I334T |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,357,311 (GRCm39) |
R176H |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,736,337 (GRCm39) |
|
probably benign |
Het |
Cav1 |
C |
A |
6: 17,307,918 (GRCm39) |
N23K |
probably damaging |
Het |
Cep126 |
A |
G |
9: 8,112,120 (GRCm39) |
V151A |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,481,606 (GRCm39) |
|
probably null |
Het |
Crim1 |
T |
A |
17: 78,623,146 (GRCm39) |
V448E |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,655,278 (GRCm39) |
E8G |
possibly damaging |
Het |
Ddx31 |
A |
T |
2: 28,764,185 (GRCm39) |
I464F |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,764,432 (GRCm39) |
|
probably benign |
Het |
Dhx16 |
A |
G |
17: 36,193,762 (GRCm39) |
E319G |
probably damaging |
Het |
Efl1 |
A |
G |
7: 82,301,107 (GRCm39) |
D37G |
probably damaging |
Het |
Epha5 |
T |
C |
5: 84,298,228 (GRCm39) |
R444G |
probably damaging |
Het |
Exoc2 |
C |
A |
13: 31,004,606 (GRCm39) |
C859F |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,860,908 (GRCm39) |
|
probably benign |
Het |
Gm12258 |
G |
A |
11: 58,750,285 (GRCm39) |
A9T |
probably benign |
Het |
Gpr141b |
T |
G |
13: 19,913,300 (GRCm39) |
|
noncoding transcript |
Het |
Grm4 |
A |
G |
17: 27,654,129 (GRCm39) |
V607A |
probably benign |
Het |
Gvin3 |
T |
C |
7: 106,200,677 (GRCm39) |
|
noncoding transcript |
Het |
Ighv1-74 |
C |
A |
12: 115,766,455 (GRCm39) |
W55L |
probably damaging |
Het |
Irx4 |
C |
A |
13: 73,415,626 (GRCm39) |
Y138* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,482,988 (GRCm39) |
T2352K |
probably benign |
Het |
Kcnk3 |
T |
G |
5: 30,745,854 (GRCm39) |
V65G |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,908,923 (GRCm39) |
E130G |
probably benign |
Het |
Mgat5 |
C |
A |
1: 127,310,676 (GRCm39) |
R197S |
probably benign |
Het |
Mpg |
T |
C |
11: 32,177,951 (GRCm39) |
|
probably null |
Het |
Muc5b |
T |
C |
7: 141,417,910 (GRCm39) |
C3619R |
probably damaging |
Het |
Myo15b |
G |
A |
11: 115,764,583 (GRCm39) |
V1321I |
probably benign |
Het |
Myo1b |
T |
C |
1: 51,815,391 (GRCm39) |
T658A |
probably damaging |
Het |
Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
Nsd1 |
T |
A |
13: 55,411,217 (GRCm39) |
F1423I |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or9g3 |
A |
G |
2: 85,584,183 (GRCm39) |
|
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,379,856 (GRCm39) |
R149G |
probably damaging |
Het |
Pacc1 |
A |
G |
1: 191,080,568 (GRCm39) |
S263G |
probably damaging |
Het |
Pole |
C |
T |
5: 110,485,153 (GRCm39) |
|
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,334 (GRCm39) |
N889S |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,460,626 (GRCm39) |
S1084P |
probably damaging |
Het |
Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
Siglece |
T |
C |
7: 43,308,760 (GRCm39) |
T198A |
probably damaging |
Het |
Sptb |
T |
A |
12: 76,650,942 (GRCm39) |
M1678L |
probably benign |
Het |
Taf8 |
A |
T |
17: 47,809,467 (GRCm39) |
M98K |
probably damaging |
Het |
Tead2 |
T |
A |
7: 44,870,138 (GRCm39) |
|
probably benign |
Het |
Trrap |
C |
T |
5: 144,744,201 (GRCm39) |
|
silent |
Het |
Ttn |
G |
T |
2: 76,775,914 (GRCm39) |
N1709K |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,926,768 (GRCm39) |
|
probably benign |
Het |
Ube3c |
T |
C |
5: 29,804,054 (GRCm39) |
|
probably benign |
Het |
Unc80 |
T |
C |
1: 66,567,123 (GRCm39) |
S910P |
probably damaging |
Het |
Usp30 |
G |
A |
5: 114,257,682 (GRCm39) |
R280Q |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,530,457 (GRCm39) |
S142G |
possibly damaging |
Het |
Wdr95 |
T |
G |
5: 149,517,947 (GRCm39) |
C360G |
probably benign |
Het |
Zbtb4 |
A |
G |
11: 69,669,040 (GRCm39) |
I588V |
probably benign |
Het |
Zdhhc4 |
A |
T |
5: 143,310,604 (GRCm39) |
|
probably benign |
Het |
Zfp568 |
C |
A |
7: 29,697,288 (GRCm39) |
N69K |
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 |
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 |
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'- TGTCCTGATTTGACTTCATAGAGC -3'
(R):5'- CGTTACACTTCTCACACCGG -3'
Sequencing Primer
(F):5'- CCTGATTTGACTTCATAGAGCAATAC -3'
(R):5'- CAAGTGAAATATGGGTGTGTCCAC -3'
|
Posted On |
2017-03-31 |