Incidental Mutation 'R1411:Cpeb2'
ID |
200797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpeb2
|
Ensembl Gene |
ENSMUSG00000039782 |
Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
Synonyms |
A630055H10Rik |
MMRRC Submission |
039467-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.374)
|
Stock # |
R1411 (G1)
|
Quality Score |
114 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to G
at 43391113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114066]
[ENSMUST00000166713]
[ENSMUST00000169035]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 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 |
noncoding transcript
Transcript: ENSMUST00000127599
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140650
|
SMART Domains |
Protein: ENSMUSP00000130435 Gene: ENSMUSG00000085720
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
66 |
N/A |
INTRINSIC |
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000166713
AA Change: L103R
|
SMART Domains |
Protein: ENSMUSP00000130921 Gene: ENSMUSG00000039782 AA Change: L103R
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 |
unknown
Transcript: ENSMUST00000169035
AA Change: L103R
|
SMART Domains |
Protein: ENSMUSP00000125857 Gene: ENSMUSG00000039782 AA Change: L103R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200685
|
Meta Mutation Damage Score |
0.0674 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (46/46) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
Het |
Zfp974 |
A |
G |
7: 27,610,634 (GRCm39) |
S364P |
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 |
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 |
|
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CGGCCTGATAAATGCGGGACTTC -3'
(R):5'- GTGTGGCGGGCTCAACTCTTTC -3'
Sequencing Primer
(F):5'- TGCTGCACACTGCCCTG -3'
(R):5'- TGCTGCCGCTTACTGAAG -3'
|
Posted On |
2014-05-23 |