Incidental Mutation 'IGL00471:Cpeb2'
| ID |
6434 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpeb2
|
| Ensembl Gene |
ENSMUSG00000039782 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
| Synonyms |
A630055H10Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
IGL00471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43443174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 955
(Y955F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114066]
[ENSMUST00000166713]
[ENSMUST00000169035]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000114065
AA Change: Y811F
|
| SMART Domains |
Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: Y811F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
41 |
N/A |
INTRINSIC |
|
RRM
|
265 |
337 |
1.5e-4 |
SMART |
|
RRM
|
373 |
446 |
1.86e-2 |
SMART |
|
PDB:2M13|A
|
447 |
512 |
1e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114066
|
| SMART Domains |
Protein: ENSMUSP00000109700
Gene: ENSMUSG00000039782
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
232 |
N/A |
INTRINSIC |
|
RRM
|
273 |
345 |
1.5e-4 |
SMART |
|
RRM
|
381 |
454 |
1.86e-2 |
SMART |
|
PDB:2M13|A
|
455 |
520 |
1e-6 |
PDB |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000166713
AA Change: Y985F
|
| SMART Domains |
Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: Y985F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
534 |
N/A |
INTRINSIC |
|
RRM
|
758 |
830 |
1.5e-4 |
SMART |
|
RRM
|
866 |
939 |
1.86e-2 |
SMART |
|
PDB:2M13|A
|
940 |
1005 |
2e-6 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169035
AA Change: Y955F
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: Y955F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
156 |
N/A |
INTRINSIC |
|
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
245 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
375 |
433 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
534 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
695 |
N/A |
INTRINSIC |
|
RRM
|
736 |
808 |
1.5e-4 |
SMART |
|
RRM
|
844 |
917 |
1.86e-2 |
SMART |
|
PDB:2M13|A
|
918 |
983 |
2e-6 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to cytoplasmic polyadenylation element binding protein (CPEB), an mRNA-binding protein that regulates cytoplasmic polyadenylation of mRNA as a trans factor in oogenesis and spermatogenesis. Studies of the similar gene in mice suggested a possible role of this protein in transcriptionally inactive haploid spermatids. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early postnatal lethality, decreased heart rate, and increased parasympathetic signaling leading to increased pulmonary acetylcholine level, bronchoconstriction, severe apnea, and abnormal breathing patterns. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,657,661 (GRCm39) |
V2793A |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,389 (GRCm39) |
Y249C |
probably damaging |
Het |
| Anks1 |
T |
C |
17: 28,277,390 (GRCm39) |
S1082P |
possibly damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| C4b |
T |
G |
17: 34,953,403 (GRCm39) |
T1027P |
probably damaging |
Het |
| Clec4d |
A |
T |
6: 123,251,732 (GRCm39) |
I205F |
probably damaging |
Het |
| Cst13 |
T |
A |
2: 148,672,224 (GRCm39) |
M133K |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,871,405 (GRCm39) |
L2418P |
probably damaging |
Het |
| Gli3 |
T |
C |
13: 15,898,354 (GRCm39) |
|
probably null |
Het |
| Hgfac |
C |
A |
5: 35,203,870 (GRCm39) |
H463N |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,792 (GRCm39) |
F183I |
probably damaging |
Het |
| Ighv1-5 |
T |
G |
12: 114,477,093 (GRCm39) |
I70L |
probably benign |
Het |
| Ltbp2 |
T |
C |
12: 84,837,838 (GRCm39) |
T1181A |
probably damaging |
Het |
| Morn1 |
A |
C |
4: 155,176,785 (GRCm39) |
K140Q |
possibly damaging |
Het |
| Nek1 |
A |
T |
8: 61,496,318 (GRCm39) |
M358L |
probably benign |
Het |
| Pcbd2 |
C |
T |
13: 55,924,413 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
A |
T |
2: 87,321,429 (GRCm39) |
L202Q |
probably damaging |
Het |
| Shq1 |
A |
G |
6: 100,641,444 (GRCm39) |
S146P |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,764,922 (GRCm39) |
|
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,548,403 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
A |
6: 48,475,147 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
T |
C |
2: 52,610,947 (GRCm39) |
D25G |
probably damaging |
Het |
| Tbx18 |
A |
T |
9: 87,587,676 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tmem26 |
A |
T |
10: 68,614,511 (GRCm39) |
I309F |
possibly damaging |
Het |
| Ube2c |
A |
G |
2: 164,613,213 (GRCm39) |
T44A |
probably benign |
Het |
|
| Other mutations in Cpeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00771:Cpeb2
|
APN |
5 |
43,394,890 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00797:Cpeb2
|
APN |
5 |
43,438,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Cpeb2
|
APN |
5 |
43,436,038 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01632:Cpeb2
|
APN |
5 |
43,394,765 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03137:Cpeb2
|
APN |
5 |
43,419,067 (GRCm39) |
splice site |
probably benign |
|
|
R0125:Cpeb2
|
UTSW |
5 |
43,395,743 (GRCm39) |
intron |
probably benign |
|
|
R0200:Cpeb2
|
UTSW |
5 |
43,419,119 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0453:Cpeb2
|
UTSW |
5 |
43,443,056 (GRCm39) |
splice site |
probably benign |
|
|
R1411:Cpeb2
|
UTSW |
5 |
43,391,113 (GRCm39) |
unclassified |
probably benign |
|
|
R1542:Cpeb2
|
UTSW |
5 |
43,443,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Cpeb2
|
UTSW |
5 |
43,443,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Cpeb2
|
UTSW |
5 |
43,441,273 (GRCm39) |
splice site |
probably benign |
|
|
R1703:Cpeb2
|
UTSW |
5 |
43,391,181 (GRCm39) |
unclassified |
probably benign |
|
|
R1899:Cpeb2
|
UTSW |
5 |
43,434,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1942:Cpeb2
|
UTSW |
5 |
43,392,596 (GRCm39) |
intron |
probably benign |
|
|
R3429:Cpeb2
|
UTSW |
5 |
43,438,573 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3610:Cpeb2
|
UTSW |
5 |
43,443,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3848:Cpeb2
|
UTSW |
5 |
43,394,788 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4005:Cpeb2
|
UTSW |
5 |
43,395,755 (GRCm39) |
intron |
probably benign |
|
|
R4306:Cpeb2
|
UTSW |
5 |
43,392,578 (GRCm39) |
intron |
probably benign |
|
|
R4667:Cpeb2
|
UTSW |
5 |
43,391,235 (GRCm39) |
unclassified |
probably benign |
|
|
R4754:Cpeb2
|
UTSW |
5 |
43,443,200 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4821:Cpeb2
|
UTSW |
5 |
43,390,817 (GRCm39) |
unclassified |
probably benign |
|
|
R4906:Cpeb2
|
UTSW |
5 |
43,402,005 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5237:Cpeb2
|
UTSW |
5 |
43,443,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6693:Cpeb2
|
UTSW |
5 |
43,443,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Cpeb2
|
UTSW |
5 |
43,434,848 (GRCm39) |
missense |
|
|
|
R7825:Cpeb2
|
UTSW |
5 |
43,394,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8138:Cpeb2
|
UTSW |
5 |
43,392,352 (GRCm39) |
missense |
|
|
|
R8162:Cpeb2
|
UTSW |
5 |
43,394,681 (GRCm39) |
missense |
|
|
|
R8735:Cpeb2
|
UTSW |
5 |
43,438,775 (GRCm39) |
nonsense |
probably null |
|
|
R9062:Cpeb2
|
UTSW |
5 |
43,391,171 (GRCm39) |
missense |
|
|
|
R9087:Cpeb2
|
UTSW |
5 |
43,438,461 (GRCm39) |
missense |
|
|
|
R9258:Cpeb2
|
UTSW |
5 |
43,391,455 (GRCm39) |
missense |
|
|
|
R9374:Cpeb2
|
UTSW |
5 |
43,391,584 (GRCm39) |
nonsense |
probably null |
|
|
R9460:Cpeb2
|
UTSW |
5 |
43,390,769 (GRCm39) |
start gained |
probably benign |
|
|
R9744:Cpeb2
|
UTSW |
5 |
43,391,268 (GRCm39) |
missense |
|
|
|
Z1176:Cpeb2
|
UTSW |
5 |
43,392,060 (GRCm39) |
missense |
|
|
|
| Posted On |
2012-04-20 |
Incidental Mutation