Incidental Mutation 'R6355:Pabpc2'
ID |
512355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pabpc2
|
Ensembl Gene |
ENSMUSG00000051732 |
Gene Name |
poly(A) binding protein, cytoplasmic 2 |
Synonyms |
Pabp2 |
MMRRC Submission |
044507-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.145)
|
Stock # |
R6355 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
39906550-39909135 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39907445 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 237
(S237G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066639
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063219]
|
AlphaFold |
Q62029 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063219
AA Change: S237G
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000066639 Gene: ENSMUSG00000051732 AA Change: S237G
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr1a |
T |
G |
13: 30,565,482 (GRCm39) |
F182L |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,986,126 (GRCm39) |
E2470G |
probably benign |
Het |
Arhgap20 |
T |
C |
9: 51,755,020 (GRCm39) |
W418R |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,804,907 (GRCm39) |
D832G |
possibly damaging |
Het |
Btbd2 |
A |
G |
10: 80,481,183 (GRCm39) |
F325L |
possibly damaging |
Het |
Chrna10 |
A |
T |
7: 101,762,292 (GRCm39) |
|
probably null |
Het |
Cyp26a1 |
T |
C |
19: 37,687,377 (GRCm39) |
I188T |
possibly damaging |
Het |
Dnajc13 |
A |
G |
9: 104,080,469 (GRCm39) |
C871R |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,896,511 (GRCm39) |
S4287P |
probably benign |
Het |
Gm5519 |
A |
T |
19: 33,802,471 (GRCm39) |
*171C |
probably null |
Het |
Gnat1 |
C |
A |
9: 107,554,623 (GRCm39) |
V81F |
probably benign |
Het |
Gorab |
G |
A |
1: 163,214,138 (GRCm39) |
A264V |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,441,501 (GRCm39) |
V211E |
probably benign |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kif26b |
A |
C |
1: 178,743,743 (GRCm39) |
S1280R |
probably damaging |
Het |
Lce3e |
C |
T |
3: 92,875,042 (GRCm39) |
|
probably benign |
Het |
Magi1 |
A |
G |
6: 94,260,177 (GRCm39) |
Y43H |
probably benign |
Het |
Mon2 |
T |
A |
10: 122,858,825 (GRCm39) |
M829L |
possibly damaging |
Het |
Nmd3 |
G |
A |
3: 69,636,680 (GRCm39) |
V96I |
probably benign |
Het |
Ogfod1 |
T |
C |
8: 94,789,610 (GRCm39) |
M437T |
probably benign |
Het |
Or4f54 |
A |
G |
2: 111,123,230 (GRCm39) |
I206V |
probably benign |
Het |
Or5m9b |
T |
A |
2: 85,905,216 (GRCm39) |
I44K |
probably benign |
Het |
Or6b2 |
T |
C |
1: 92,407,702 (GRCm39) |
T214A |
probably benign |
Het |
Parp4 |
T |
A |
14: 56,839,757 (GRCm39) |
D488E |
possibly damaging |
Het |
Phldb2 |
C |
T |
16: 45,645,701 (GRCm39) |
M293I |
probably damaging |
Het |
Poc1b |
G |
A |
10: 98,965,436 (GRCm39) |
E80K |
probably damaging |
Het |
Prdm5 |
C |
A |
6: 65,860,578 (GRCm39) |
Q421K |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,604,989 (GRCm39) |
E479G |
possibly damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,745,639 (GRCm39) |
S1239P |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,330,235 (GRCm39) |
V1052A |
possibly damaging |
Het |
Satb2 |
G |
T |
1: 56,987,356 (GRCm39) |
D83E |
probably damaging |
Het |
Sccpdh |
T |
C |
1: 179,498,165 (GRCm39) |
S70P |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,291,643 (GRCm39) |
F1701S |
probably damaging |
Het |
Srsf9 |
A |
G |
5: 115,465,368 (GRCm39) |
M1V |
probably null |
Het |
Stk32a |
T |
A |
18: 43,430,659 (GRCm39) |
|
probably null |
Het |
Sult2a5 |
A |
C |
7: 13,396,462 (GRCm39) |
Y183S |
probably benign |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Tnip2 |
G |
A |
5: 34,656,541 (GRCm39) |
Q255* |
probably null |
Het |
Vmn1r26 |
A |
G |
6: 57,985,536 (GRCm39) |
W218R |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,916,659 (GRCm39) |
Y424C |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,291,763 (GRCm39) |
M1L |
probably damaging |
Het |
Wnt3a |
A |
T |
11: 59,166,058 (GRCm39) |
I74N |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,641,415 (GRCm39) |
H80Q |
probably benign |
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 |
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 |
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'- GGGATGCTTCTGAATGACCG -3'
(R):5'- AATGCCCTGATATCTGATGCTC -3'
Sequencing Primer
(F):5'- TGCTTCTGAATGACCGCAAAGTG -3'
(R):5'- ATGCCCTGATATCTGATGCTCTTATC -3'
|
Posted On |
2018-04-27 |