Incidental Mutation 'R3087:Pabpc2'
ID |
262878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pabpc2
|
Ensembl Gene |
ENSMUSG00000051732 |
Gene Name |
poly(A) binding protein, cytoplasmic 2 |
Synonyms |
Pabp2 |
MMRRC Submission |
040576-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R3087 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
39906550-39909135 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39907319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 195
(I195V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063219]
|
AlphaFold |
Q62029 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063219
AA Change: I195V
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000066639 Gene: ENSMUSG00000051732 AA Change: I195V
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 |
|
Meta Mutation Damage Score |
0.0713 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
97% (29/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aknad1 |
C |
T |
3: 108,664,179 (GRCm39) |
Q381* |
probably null |
Het |
Arhgef39 |
C |
T |
4: 43,497,581 (GRCm39) |
|
probably null |
Het |
Cblif |
A |
T |
19: 11,737,737 (GRCm39) |
K383* |
probably null |
Het |
Ccdc85a |
G |
T |
11: 28,342,857 (GRCm39) |
C113* |
probably null |
Het |
Cdc16 |
T |
C |
8: 13,809,004 (GRCm39) |
Y19H |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,657,347 (GRCm39) |
M289K |
probably benign |
Het |
Cyp2u1 |
G |
A |
3: 131,096,676 (GRCm39) |
A34V |
probably benign |
Het |
Dkk2 |
A |
C |
3: 131,791,900 (GRCm39) |
N36T |
probably damaging |
Het |
Fam222a |
A |
G |
5: 114,750,015 (GRCm39) |
S404G |
probably damaging |
Het |
Fbll1 |
A |
T |
11: 35,689,017 (GRCm39) |
V82E |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,284,856 (GRCm39) |
S754P |
probably benign |
Het |
Fmo5 |
T |
C |
3: 97,549,011 (GRCm39) |
W220R |
probably damaging |
Het |
Gm7275 |
A |
G |
16: 47,894,098 (GRCm39) |
|
noncoding transcript |
Het |
Gmeb2 |
G |
T |
2: 180,897,433 (GRCm39) |
|
probably benign |
Het |
Ifi44l |
T |
C |
3: 151,468,494 (GRCm39) |
H12R |
unknown |
Het |
Itsn2 |
T |
C |
12: 4,716,303 (GRCm39) |
Y1021H |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,882,257 (GRCm39) |
S374P |
possibly damaging |
Het |
Map4k4 |
A |
T |
1: 40,060,242 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
T |
13: 102,990,434 (GRCm39) |
|
probably benign |
Het |
Mdfic |
T |
A |
6: 15,799,668 (GRCm39) |
L265H |
probably damaging |
Het |
Pramel25 |
A |
G |
4: 143,520,416 (GRCm39) |
D56G |
probably benign |
Het |
Prdm1 |
T |
C |
10: 44,322,823 (GRCm39) |
Y224C |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,786,483 (GRCm39) |
Y420C |
probably damaging |
Het |
Tlr6 |
A |
T |
5: 65,111,668 (GRCm39) |
M413K |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
Vmn1r11 |
A |
C |
6: 57,114,691 (GRCm39) |
K81N |
possibly damaging |
Het |
Vmn2r107 |
G |
A |
17: 20,580,607 (GRCm39) |
E515K |
probably benign |
Het |
Vstm4 |
T |
C |
14: 32,614,592 (GRCm39) |
V178A |
possibly 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 |
IGL02513:Pabpc2
|
APN |
18 |
39,908,193 (GRCm39) |
missense |
probably benign |
0.08 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGAGAATGGCTCCAAGGGC -3'
(R):5'- GCGCTCGACCAACATAAATG -3'
Sequencing Primer
(F):5'- TCCAAGGGCCACGGATTTGTAC -3'
(R):5'- GCTCGACCAACATAAATGTGTTTTCC -3'
|
Posted On |
2015-02-05 |