Incidental Mutation 'R4386:Pabpc2'
| ID |
326247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pabpc2
|
| Ensembl Gene |
ENSMUSG00000051732 |
| Gene Name |
poly(A) binding protein, cytoplasmic 2 |
| Synonyms |
Pabp2 |
| MMRRC Submission |
041680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4386 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
39906550-39909135 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39908238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 501
(V501A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066639
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063219]
|
| AlphaFold |
Q62029 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063219
AA Change: V501A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: V501A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,379,982 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
G |
T |
7: 119,373,094 (GRCm39) |
W199L |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,778 (GRCm39) |
D236E |
probably benign |
Het |
| Arhgap1 |
T |
C |
2: 91,498,582 (GRCm39) |
Y160H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,045,247 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,718,801 (GRCm39) |
E334G |
probably damaging |
Het |
| Ciz1 |
C |
T |
2: 32,260,111 (GRCm39) |
T219M |
possibly damaging |
Het |
| Cluap1 |
A |
C |
16: 3,751,586 (GRCm39) |
D315A |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,210,154 (GRCm39) |
|
probably null |
Het |
| Cul2 |
T |
C |
18: 3,434,856 (GRCm39) |
S668P |
probably damaging |
Het |
| Fah |
T |
A |
7: 84,248,344 (GRCm39) |
T125S |
probably damaging |
Het |
| Fam221a |
G |
A |
6: 49,355,366 (GRCm39) |
C156Y |
probably damaging |
Het |
| Gm6158 |
G |
T |
14: 24,120,362 (GRCm39) |
|
noncoding transcript |
Het |
| Hbq1b |
T |
A |
11: 32,237,295 (GRCm39) |
V63E |
probably damaging |
Het |
| Ighv6-5 |
G |
A |
12: 114,380,337 (GRCm39) |
T79I |
possibly damaging |
Het |
| Kif12 |
G |
A |
4: 63,089,455 (GRCm39) |
T99M |
probably damaging |
Het |
| Kif1a |
T |
A |
1: 92,996,272 (GRCm39) |
K298M |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,080,707 (GRCm39) |
Q1245R |
probably benign |
Het |
| Marchf4 |
G |
A |
1: 72,467,973 (GRCm39) |
P353L |
probably benign |
Het |
| Nadk |
A |
T |
4: 155,667,032 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,247,389 (GRCm39) |
T345A |
probably damaging |
Het |
| Niban3 |
A |
G |
8: 72,060,155 (GRCm39) |
|
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,001,333 (GRCm39) |
M408L |
probably benign |
Het |
| Nuak1 |
T |
A |
10: 84,229,908 (GRCm39) |
E155V |
probably damaging |
Het |
| Oosp1 |
C |
T |
19: 11,645,158 (GRCm39) |
V169I |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,836,124 (GRCm39) |
R122H |
probably benign |
Het |
| Or2t26 |
T |
A |
11: 49,039,842 (GRCm39) |
Y253N |
probably damaging |
Het |
| Or5ae2 |
T |
C |
7: 84,505,756 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,267,460 (GRCm39) |
V279E |
probably damaging |
Het |
| Pik3c2a |
A |
G |
7: 115,953,334 (GRCm39) |
V1187A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,484,516 (GRCm39) |
V2013A |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,055,914 (GRCm39) |
S759T |
possibly damaging |
Het |
| Scgb1b2 |
T |
A |
7: 30,990,089 (GRCm39) |
K86N |
possibly damaging |
Het |
| Sdk1 |
T |
C |
5: 142,080,381 (GRCm39) |
I1291T |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,341,090 (GRCm39) |
Y1396C |
probably benign |
Het |
| Slc24a3 |
A |
G |
2: 145,448,746 (GRCm39) |
E380G |
probably benign |
Het |
| Spock1 |
A |
G |
13: 57,588,263 (GRCm39) |
S270P |
probably damaging |
Het |
| Tmem128 |
T |
C |
5: 38,419,418 (GRCm39) |
S57P |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,453,887 (GRCm39) |
R125W |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,882,758 (GRCm39) |
S220P |
probably damaging |
Het |
| Usp45 |
T |
C |
4: 21,830,505 (GRCm39) |
|
probably null |
Het |
| Usp5 |
C |
T |
6: 124,795,437 (GRCm39) |
|
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,573 (GRCm39) |
C32* |
probably null |
Het |
| Vmn2r112 |
T |
A |
17: 22,820,303 (GRCm39) |
F59I |
probably benign |
Het |
| Wfdc9 |
A |
T |
2: 164,492,458 (GRCm39) |
S56R |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,806 (GRCm39) |
I650V |
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 |
|
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'- TTGCTCAACCAAGGCCAAGTG -3'
(R):5'- AGCCTTTCACCCAGCATTTG -3'
Sequencing Primer
(F):5'- CAAGTGCTCGCTGGATTGCTC -3'
(R):5'- CATTTGCTTCGGCTCTTGAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation