Incidental Mutation 'IGL01604:Cpeb2'
| ID |
92692 |
| 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: 0.390)
|
| Stock # |
IGL01604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 43436038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114066]
[ENSMUST00000166713]
[ENSMUST00000169035]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114065
|
| SMART Domains |
Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
| 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 null
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 |
probably null
Transcript: ENSMUST00000166713
|
| SMART Domains |
Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
| 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 null
Transcript: ENSMUST00000169035
|
| SMART Domains |
Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,168,462 (GRCm39) |
I1416L |
possibly damaging |
Het |
| Abcc4 |
A |
T |
14: 118,765,406 (GRCm39) |
M992K |
possibly damaging |
Het |
| Adnp |
A |
G |
2: 168,026,258 (GRCm39) |
S346P |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Cblif |
A |
G |
19: 11,735,126 (GRCm39) |
T249A |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,994,059 (GRCm39) |
*105W |
probably null |
Het |
| Chd1 |
A |
G |
17: 15,990,359 (GRCm39) |
D1637G |
possibly damaging |
Het |
| Cul4a |
T |
C |
8: 13,183,843 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,675,256 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,709,944 (GRCm39) |
T539A |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,854,749 (GRCm39) |
N1792D |
probably benign |
Het |
| Gm9696 |
A |
C |
3: 59,879,723 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd1c |
T |
C |
10: 67,085,541 (GRCm39) |
F2444L |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,900,482 (GRCm39) |
F728I |
probably damaging |
Het |
| Megf9 |
C |
A |
4: 70,367,028 (GRCm39) |
C318F |
probably null |
Het |
| Mpi |
G |
A |
9: 57,458,025 (GRCm39) |
A59V |
possibly damaging |
Het |
| Mrps28 |
A |
G |
3: 8,965,130 (GRCm39) |
I103T |
probably damaging |
Het |
| Msantd2 |
G |
A |
9: 37,434,144 (GRCm39) |
R329H |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,474,327 (GRCm39) |
L1681F |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,332,535 (GRCm39) |
|
probably benign |
Het |
| Or4k52 |
A |
G |
2: 111,610,935 (GRCm39) |
K90R |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,456,612 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,585,389 (GRCm39) |
E1596K |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,082,454 (GRCm39) |
E270G |
probably benign |
Het |
| Skor2 |
C |
A |
18: 76,947,646 (GRCm39) |
A456E |
possibly damaging |
Het |
| Slc13a2 |
A |
G |
11: 78,294,221 (GRCm39) |
I220T |
possibly damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,291,362 (GRCm39) |
M361K |
probably damaging |
Het |
| Tars2 |
G |
A |
3: 95,647,590 (GRCm39) |
R608C |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,593,746 (GRCm39) |
|
probably null |
Het |
| Tex14 |
A |
G |
11: 87,400,524 (GRCm39) |
I439V |
possibly damaging |
Het |
| Thbs2 |
T |
A |
17: 14,899,031 (GRCm39) |
I690F |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,418,244 (GRCm39) |
I1684V |
possibly damaging |
Het |
| Xdh |
T |
C |
17: 74,216,332 (GRCm39) |
I705V |
probably benign |
Het |
|
| Other mutations in Cpeb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00471:Cpeb2
|
APN |
5 |
43,443,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation