Incidental Mutation 'IGL02513:Pabpc2'
| ID |
296631 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pabpc2
|
| Ensembl Gene |
ENSMUSG00000051732 |
| Gene Name |
poly(A) binding protein, cytoplasmic 2 |
| Synonyms |
Pabp2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
IGL02513
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
39906550-39909135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39908193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 486
(T486I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063219]
|
| AlphaFold |
Q62029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063219
AA Change: T486I
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: T486I
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
12 |
85 |
1.64e-19 |
SMART |
|
RRM
|
100 |
171 |
7.57e-24 |
SMART |
|
RRM
|
192 |
264 |
5.23e-27 |
SMART |
|
RRM
|
295 |
366 |
3.53e-24 |
SMART |
|
low complexity region
|
398 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
490 |
500 |
N/A |
INTRINSIC |
|
PolyA
|
546 |
609 |
1.69e-27 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,042,979 (GRCm39) |
V787F |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,786,451 (GRCm39) |
I268V |
probably benign |
Het |
| Atg14 |
T |
A |
14: 47,783,081 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,408,562 (GRCm39) |
|
probably benign |
Het |
| Ccdc9 |
A |
G |
7: 16,018,434 (GRCm39) |
|
probably benign |
Het |
| Cers6 |
T |
C |
2: 68,899,013 (GRCm39) |
F217S |
probably benign |
Het |
| Crebbp |
A |
C |
16: 3,944,469 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,049,869 (GRCm39) |
|
probably benign |
Het |
| Dmac2l |
A |
T |
12: 69,787,819 (GRCm39) |
Y85F |
probably benign |
Het |
| Eml1 |
T |
A |
12: 108,496,571 (GRCm39) |
V609E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,222,636 (GRCm39) |
S204P |
probably damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,843 (GRCm39) |
D128G |
probably damaging |
Het |
| Itgal |
T |
A |
7: 126,927,844 (GRCm39) |
V1013D |
possibly damaging |
Het |
| Kctd18 |
A |
G |
1: 58,004,559 (GRCm39) |
Y112H |
probably damaging |
Het |
| Kdm4d |
T |
A |
9: 14,375,850 (GRCm39) |
T3S |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,000,765 (GRCm39) |
|
probably null |
Het |
| Mex3c |
T |
A |
18: 73,723,360 (GRCm39) |
D484E |
possibly damaging |
Het |
| Nalf1 |
T |
A |
8: 9,257,930 (GRCm39) |
D406V |
probably benign |
Het |
| Nat14 |
T |
C |
7: 4,927,050 (GRCm39) |
V74A |
possibly damaging |
Het |
| Or2b6 |
A |
G |
13: 21,823,510 (GRCm39) |
F61S |
probably damaging |
Het |
| Pgm2 |
A |
G |
5: 64,260,289 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
T |
A |
2: 29,973,149 (GRCm39) |
I353N |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,083,260 (GRCm39) |
S594R |
possibly damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,830,350 (GRCm39) |
A606T |
possibly damaging |
Het |
| Tcof1 |
A |
G |
18: 60,964,850 (GRCm39) |
V623A |
possibly damaging |
Het |
| Tg |
A |
G |
15: 66,577,123 (GRCm39) |
E1482G |
probably benign |
Het |
| Uba1 |
A |
G |
X: 20,541,885 (GRCm39) |
T546A |
probably benign |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,934 (GRCm39) |
K310E |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,569,126 (GRCm39) |
W653R |
probably damaging |
Het |
| Zdhhc19 |
A |
T |
16: 32,318,440 (GRCm39) |
I99F |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,239 (GRCm39) |
Y974C |
probably damaging |
Het |
|
| Other mutations in Pabpc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00963:Pabpc2
|
APN |
18 |
39,908,390 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01295:Pabpc2
|
APN |
18 |
39,907,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02061:Pabpc2
|
APN |
18 |
39,908,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02104:Pabpc2
|
APN |
18 |
39,907,936 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0201:Pabpc2
|
UTSW |
18 |
39,908,360 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0383:Pabpc2
|
UTSW |
18 |
39,908,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0616:Pabpc2
|
UTSW |
18 |
39,906,792 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0727:Pabpc2
|
UTSW |
18 |
39,908,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1597:Pabpc2
|
UTSW |
18 |
39,906,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Pabpc2
|
UTSW |
18 |
39,908,169 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1818:Pabpc2
|
UTSW |
18 |
39,907,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Pabpc2
|
UTSW |
18 |
39,908,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3087:Pabpc2
|
UTSW |
18 |
39,907,319 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4080:Pabpc2
|
UTSW |
18 |
39,908,583 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4332:Pabpc2
|
UTSW |
18 |
39,908,393 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4386:Pabpc2
|
UTSW |
18 |
39,908,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4445:Pabpc2
|
UTSW |
18 |
39,907,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4718:Pabpc2
|
UTSW |
18 |
39,907,556 (GRCm39) |
missense |
probably benign |
|
|
R4744:Pabpc2
|
UTSW |
18 |
39,907,881 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4748:Pabpc2
|
UTSW |
18 |
39,907,322 (GRCm39) |
nonsense |
probably null |
|
|
R5085:Pabpc2
|
UTSW |
18 |
39,907,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Pabpc2
|
UTSW |
18 |
39,908,436 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5994:Pabpc2
|
UTSW |
18 |
39,906,947 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6216:Pabpc2
|
UTSW |
18 |
39,907,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Pabpc2
|
UTSW |
18 |
39,906,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6355:Pabpc2
|
UTSW |
18 |
39,907,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7221:Pabpc2
|
UTSW |
18 |
39,906,963 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7738:Pabpc2
|
UTSW |
18 |
39,907,319 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7767:Pabpc2
|
UTSW |
18 |
39,907,607 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8059:Pabpc2
|
UTSW |
18 |
39,907,875 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8190:Pabpc2
|
UTSW |
18 |
39,908,520 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8528:Pabpc2
|
UTSW |
18 |
39,908,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8905:Pabpc2
|
UTSW |
18 |
39,907,704 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9617:Pabpc2
|
UTSW |
18 |
39,907,602 (GRCm39) |
missense |
probably benign |
|
|
X0024:Pabpc2
|
UTSW |
18 |
39,908,450 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation