Incidental Mutation 'R4133:Papola'
| ID |
314763 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Papola
|
| Ensembl Gene |
ENSMUSG00000021111 |
| Gene Name |
poly (A) polymerase alpha |
| Synonyms |
PapIII, Plap |
| MMRRC Submission |
041637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.907)
|
| Stock # |
R4133 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
105750953-105805203 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105765917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 6
(T6A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126275
(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: T6A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000021535
Gene: ENSMUSG00000021111
AA Change: T6A
| 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: T6A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105527
Gene: ENSMUSG00000021111
AA Change: T6A
| 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: T6A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000131668
Gene: ENSMUSG00000021111
AA Change: T6A
| 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
AA Change: T6A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000125818
Gene: ENSMUSG00000021111
AA Change: T6A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
64 |
9.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165584
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166329
AA Change: T6A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000131725
Gene: ENSMUSG00000021111
AA Change: T6A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP_central
|
17 |
99 |
4.8e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170002
AA Change: T6A
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126275
Gene: ENSMUSG00000021111
AA Change: T6A
| 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: T6A
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128908
Gene: ENSMUSG00000021111
AA Change: T6A
| 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: T6A
PolyPhen 2
Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128402
Gene: ENSMUSG00000021111
AA Change: T6A
| 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: ENSMUST00000169938
AA Change: T6A
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000130687
Gene: ENSMUSG00000021111
AA Change: T6A
| 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 |
0.0577 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (77/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700036A12Rik |
T |
A |
9: 60,677,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh3b1 |
A |
G |
19: 3,970,808 (GRCm39) |
I184T |
probably damaging |
Het |
| Arhgap42 |
C |
T |
9: 9,011,300 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
A |
G |
1: 34,845,185 (GRCm39) |
D1463G |
probably damaging |
Het |
| Arpc5 |
A |
G |
1: 152,644,622 (GRCm39) |
T52A |
probably benign |
Het |
| Asb6 |
A |
G |
2: 30,718,247 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,889,567 (GRCm39) |
V482A |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,338,535 (GRCm39) |
N469S |
probably benign |
Het |
| Btaf1 |
T |
A |
19: 36,939,138 (GRCm39) |
N266K |
probably benign |
Het |
| Btla |
T |
C |
16: 45,059,661 (GRCm39) |
Y122H |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,323,370 (GRCm39) |
M1278T |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,287,976 (GRCm39) |
S524P |
probably benign |
Het |
| Cep78 |
A |
G |
19: 15,946,519 (GRCm39) |
S438P |
probably damaging |
Het |
| Clca4a |
T |
G |
3: 144,675,113 (GRCm39) |
E171D |
probably benign |
Het |
| Cldn6 |
A |
T |
17: 23,900,467 (GRCm39) |
I144F |
probably damaging |
Het |
| Cpd |
G |
A |
11: 76,705,644 (GRCm39) |
Q363* |
probably null |
Het |
| Cpn1 |
G |
A |
19: 43,974,723 (GRCm39) |
P2L |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,748,864 (GRCm39) |
D264G |
probably damaging |
Het |
| Ddx39b |
C |
T |
17: 35,472,065 (GRCm39) |
S368L |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,425,254 (GRCm39) |
K681E |
probably damaging |
Het |
| Dennd1c |
A |
C |
17: 57,383,980 (GRCm39) |
W15G |
possibly damaging |
Het |
| Dgkd |
T |
G |
1: 87,869,223 (GRCm39) |
|
probably null |
Het |
| Dnah7c |
G |
T |
1: 46,705,150 (GRCm39) |
A2388S |
probably benign |
Het |
| Etv4 |
C |
A |
11: 101,661,324 (GRCm39) |
K442N |
probably damaging |
Het |
| Fam234a |
T |
C |
17: 26,432,532 (GRCm39) |
D539G |
probably damaging |
Het |
| Fancm |
A |
G |
12: 65,167,304 (GRCm39) |
T1538A |
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,229,034 (GRCm39) |
N725K |
possibly damaging |
Het |
| Fcer2a |
T |
A |
8: 3,741,130 (GRCm39) |
N4I |
possibly damaging |
Het |
| Fgd5 |
T |
C |
6: 92,046,418 (GRCm39) |
V1229A |
probably damaging |
Het |
| Garin4 |
A |
T |
1: 190,895,205 (GRCm39) |
N479K |
probably benign |
Het |
| Gm5471 |
A |
T |
15: 44,835,297 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5478 |
T |
A |
15: 101,553,080 (GRCm39) |
I331F |
probably damaging |
Het |
| Gm6729 |
C |
A |
10: 86,377,030 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
G |
T |
5: 121,415,897 (GRCm39) |
|
probably null |
Het |
| Hspb3 |
A |
C |
13: 113,800,027 (GRCm39) |
M1R |
probably null |
Het |
| Igkv10-95 |
T |
C |
6: 68,657,601 (GRCm39) |
V19A |
probably damaging |
Het |
| Il1rap |
A |
G |
16: 26,541,636 (GRCm39) |
S626G |
probably benign |
Het |
| Ints9 |
A |
G |
14: 65,228,003 (GRCm39) |
H103R |
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,152,996 (GRCm39) |
D894E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,605 (GRCm39) |
H225R |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,057,650 (GRCm39) |
Y575H |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,119,481 (GRCm39) |
I2653F |
probably damaging |
Het |
| Map4k5 |
A |
T |
12: 69,892,497 (GRCm39) |
L144Q |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,842,482 (GRCm39) |
Y252C |
probably damaging |
Het |
| Mmgt2 |
A |
G |
11: 62,555,877 (GRCm39) |
E75G |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Nckap5 |
A |
G |
1: 126,150,443 (GRCm39) |
V162A |
probably benign |
Het |
| Nr3c2 |
T |
C |
8: 77,636,378 (GRCm39) |
I493T |
probably damaging |
Het |
| Or2ag16 |
A |
C |
7: 106,352,286 (GRCm39) |
L103R |
probably damaging |
Het |
| Or2t46 |
A |
T |
11: 58,471,901 (GRCm39) |
Y77F |
probably damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,465 (GRCm39) |
F75L |
probably benign |
Het |
| Ppp1cc |
G |
A |
5: 122,306,289 (GRCm39) |
R36Q |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,397,370 (GRCm39) |
W81C |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,773 (GRCm39) |
S162P |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,869,196 (GRCm39) |
S540P |
probably damaging |
Het |
| Scn5a |
T |
A |
9: 119,315,438 (GRCm39) |
T1757S |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,900,206 (GRCm39) |
I1154V |
probably benign |
Het |
| Sirt1 |
T |
C |
10: 63,171,438 (GRCm39) |
I209V |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,009,218 (GRCm39) |
I406L |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,450,947 (GRCm39) |
E255G |
probably damaging |
Het |
| Snap91 |
C |
A |
9: 86,659,102 (GRCm39) |
G477V |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,404,548 (GRCm39) |
Q2780R |
probably benign |
Het |
| Spmap2 |
T |
C |
10: 79,415,884 (GRCm39) |
T236A |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,312,095 (GRCm39) |
Y196C |
probably damaging |
Het |
| Ssxb9 |
A |
T |
X: 8,235,845 (GRCm39) |
T18S |
probably damaging |
Het |
| Stxbp5l |
T |
C |
16: 37,028,481 (GRCm39) |
I527M |
possibly damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,968 (GRCm39) |
Y69C |
probably damaging |
Het |
| Thoc3 |
T |
C |
13: 54,616,361 (GRCm39) |
D87G |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,783 (GRCm39) |
K213R |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,197,240 (GRCm39) |
L1221Q |
probably damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,183,138 (GRCm39) |
Y187F |
probably damaging |
Het |
| Washc2 |
G |
A |
6: 116,235,891 (GRCm39) |
E1121K |
probably damaging |
Het |
| Zfx |
T |
C |
X: 93,124,464 (GRCm39) |
N360D |
probably damaging |
Het |
| Znhit3 |
A |
G |
11: 84,807,139 (GRCm39) |
V10A |
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 |
|
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'- CTAGGGATACATTTTGTCGGGAATG -3'
(R):5'- GACGGTAAGCATCCCAAAGC -3'
Sequencing Primer
(F):5'- ACCTATAGTTCTAGCATTGTGGGAC -3'
(R):5'- AGCACTCCACTCACTGCTATC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation