Incidental Mutation 'R4814:Papola'
| ID |
426186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| MMRRC Submission |
042432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R4814 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 105765912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 4
(P4Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125818
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021535]
[ENSMUST00000109901]
[ENSMUST00000163473]
[ENSMUST00000164326]
[ENSMUST00000166329]
[ENSMUST00000170002]
[ENSMUST00000166735]
[ENSMUST00000168186]
[ENSMUST00000169938]
[ENSMUST00000170540]
|
| AlphaFold |
Q61183 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021535
AA Change: P4Q
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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: P4Q
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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: P4Q
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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 damaging
Transcript: ENSMUST00000164326
AA Change: P4Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111
AA Change: P4Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165584
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166329
AA Change: P4Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111
AA Change: P4Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170002
AA Change: P4Q
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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: ENSMUST00000166498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166735
AA Change: P4Q
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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 |
possibly damaging
Transcript: ENSMUST00000168186
AA Change: P4Q
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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: ENSMUST00000169938
AA Change: P4Q
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
AA Change: P4Q
| 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: ENSMUST00000172040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170540
|
| Meta Mutation Damage Score |
0.1272 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
G |
16: 56,471,116 (GRCm39) |
V587G |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,547,632 (GRCm39) |
D1002G |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,254,687 (GRCm39) |
I385L |
probably benign |
Het |
| Adra1a |
C |
G |
14: 66,875,481 (GRCm39) |
A152G |
probably benign |
Het |
| Agbl4 |
A |
T |
4: 111,513,565 (GRCm39) |
Y437F |
possibly damaging |
Het |
| Amt |
A |
G |
9: 108,176,979 (GRCm39) |
T196A |
probably benign |
Het |
| Apobr |
G |
A |
7: 126,185,859 (GRCm39) |
V457M |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,956,667 (GRCm39) |
K3563E |
probably damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Chrna9 |
T |
C |
5: 66,134,492 (GRCm39) |
W448R |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,427,466 (GRCm39) |
D224V |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,405 (GRCm39) |
R643L |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,586,896 (GRCm39) |
H200R |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,986,898 (GRCm39) |
R3182S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,354 (GRCm39) |
C295R |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,281,173 (GRCm39) |
N394K |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,915,322 (GRCm39) |
|
probably null |
Het |
| Gckr |
C |
T |
5: 31,455,644 (GRCm39) |
Q66* |
probably null |
Het |
| Gm26996 |
A |
T |
6: 130,556,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9386 |
C |
A |
17: 81,246,141 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
A |
T |
10: 40,947,258 (GRCm39) |
M108K |
possibly damaging |
Het |
| H2-Q10 |
A |
C |
17: 35,784,481 (GRCm39) |
|
probably benign |
Het |
| Hpf1 |
A |
G |
8: 61,346,841 (GRCm39) |
D52G |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,279,377 (GRCm39) |
R989G |
probably damaging |
Het |
| Kat7 |
A |
G |
11: 95,193,949 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
G |
T |
3: 89,570,031 (GRCm39) |
V615F |
probably damaging |
Het |
| Lgi1 |
G |
T |
19: 38,289,326 (GRCm39) |
|
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 80,000,117 (GRCm39) |
T510S |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,128,114 (GRCm39) |
|
probably null |
Het |
| Mapt |
T |
C |
11: 104,189,786 (GRCm39) |
V252A |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,826,260 (GRCm39) |
S223T |
possibly damaging |
Het |
| Meig1 |
T |
A |
2: 3,412,959 (GRCm39) |
I21L |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,113,684 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mrpl46 |
A |
C |
7: 78,430,343 (GRCm39) |
N142K |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,750,062 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Oas1h |
C |
A |
5: 121,000,728 (GRCm39) |
H113N |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,245 (GRCm39) |
T203S |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,213 (GRCm39) |
I197V |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,476 (GRCm39) |
T240M |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,817 (GRCm39) |
L144F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,572,450 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,329,980 (GRCm39) |
L65F |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,645,022 (GRCm39) |
N151S |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,080,032 (GRCm39) |
H82Q |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,768,923 (GRCm39) |
T496M |
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,372,863 (GRCm39) |
Q1466P |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,821,022 (GRCm39) |
T342A |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,470 (GRCm39) |
T36A |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,275 (GRCm39) |
S186G |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,350,899 (GRCm39) |
D126E |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,718,763 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,687,337 (GRCm39) |
T355K |
probably damaging |
Het |
| Sntg2 |
A |
G |
12: 30,423,267 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,284 (GRCm39) |
M152L |
probably benign |
Het |
| Spats2l |
G |
T |
1: 57,977,085 (GRCm39) |
A308S |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,777,323 (GRCm39) |
|
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,504 (GRCm39) |
C478* |
probably null |
Het |
| Tekt5 |
A |
G |
16: 10,200,771 (GRCm39) |
L250P |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 128,061,328 (GRCm39) |
I425L |
probably benign |
Het |
| Tmem174 |
T |
A |
13: 98,773,456 (GRCm39) |
I125F |
probably damaging |
Het |
| Trafd1 |
T |
G |
5: 121,512,079 (GRCm39) |
I404L |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,373 (GRCm39) |
P500S |
possibly damaging |
Het |
| Trpm6 |
T |
A |
19: 18,839,576 (GRCm39) |
N1616K |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,715 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,567 (GRCm39) |
I706F |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,090 (GRCm39) |
Q149R |
possibly 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 |
|
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'- CTAGGGATACATTTTGTCGGGAATG -3'
(R):5'- GACGGTAAGCATCCCAAAGC -3'
Sequencing Primer
(F):5'- ACCTATAGTTCTAGCATTGTGGGAC -3'
(R):5'- AGCACTCCACTCACTGCTATC -3'
|
| Posted On |
2016-08-17 |
Incidental Mutation