Incidental Mutation 'R4306:Cpeb2'
ID |
324022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpeb2
|
Ensembl Gene |
ENSMUSG00000039782 |
Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
Synonyms |
A630055H10Rik |
MMRRC Submission |
041092-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.374)
|
Stock # |
R4306 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 43392578 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 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 |
probably benign
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 benign
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200685
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187911
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
97% (33/34) |
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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
A |
1: 12,042,300 (GRCm39) |
S440* |
probably null |
Het |
Chrdl2 |
A |
G |
7: 99,671,229 (GRCm39) |
T116A |
probably damaging |
Het |
Chst12 |
T |
C |
5: 140,510,401 (GRCm39) |
F343L |
probably damaging |
Het |
Cyp27b1 |
A |
G |
10: 126,886,957 (GRCm39) |
D391G |
probably benign |
Het |
Dll3 |
T |
C |
7: 28,001,082 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,260,932 (GRCm39) |
I2030N |
probably damaging |
Het |
Fap |
C |
T |
2: 62,361,051 (GRCm39) |
|
probably null |
Het |
Frmd4a |
C |
T |
2: 4,337,889 (GRCm39) |
R32C |
probably benign |
Het |
Fzd7 |
T |
C |
1: 59,523,566 (GRCm39) |
V483A |
probably damaging |
Het |
Gpm6a |
T |
C |
8: 55,500,428 (GRCm39) |
|
probably null |
Het |
Gprc6a |
T |
C |
10: 51,492,735 (GRCm39) |
H539R |
probably damaging |
Het |
Irs1 |
C |
T |
1: 82,265,685 (GRCm39) |
A844T |
probably benign |
Het |
Myo1a |
T |
G |
10: 127,549,950 (GRCm39) |
S477A |
probably benign |
Het |
Naga |
C |
T |
15: 82,221,095 (GRCm39) |
W67* |
probably null |
Het |
Or51ah3 |
G |
C |
7: 103,210,380 (GRCm39) |
R232T |
possibly damaging |
Het |
Or51ah3 |
A |
T |
7: 103,210,379 (GRCm39) |
R232* |
probably null |
Het |
Osbpl1a |
T |
C |
18: 12,952,652 (GRCm39) |
E87G |
probably benign |
Het |
Prr27 |
A |
G |
5: 87,990,766 (GRCm39) |
H126R |
probably benign |
Het |
Rb1 |
G |
A |
14: 73,500,135 (GRCm39) |
T504I |
probably damaging |
Het |
Rnf144b |
A |
G |
13: 47,396,418 (GRCm39) |
N252D |
probably damaging |
Het |
Slit2 |
T |
A |
5: 48,460,125 (GRCm39) |
N1385K |
possibly damaging |
Het |
Spaca7b |
T |
A |
8: 11,728,590 (GRCm39) |
N27I |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,954 (GRCm39) |
I88V |
probably benign |
Het |
Trip11 |
A |
G |
12: 101,853,198 (GRCm39) |
F465L |
probably benign |
Het |
Usp31 |
G |
A |
7: 121,306,152 (GRCm39) |
P109S |
possibly damaging |
Het |
Vmn2r12 |
A |
G |
5: 109,233,872 (GRCm39) |
L780P |
probably damaging |
Het |
Vmn2r71 |
G |
T |
7: 85,273,360 (GRCm39) |
D725Y |
probably damaging |
Het |
Zfp459 |
T |
C |
13: 67,561,307 (GRCm39) |
K47R |
probably damaging |
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 |
|
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 |
|
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'- ACTCGGAGAACGGCTTCTAC -3'
(R):5'- AGAAGTCGAGAGCACTCCAG -3'
Sequencing Primer
(F):5'- GCTGCCATCGTCCATGAAC -3'
(R):5'- AGAGCACTCCAGCCCGC -3'
|
Posted On |
2015-06-24 |