Incidental Mutation 'R6693:Cpeb2'
| ID |
528166 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb2
|
| Ensembl Gene |
ENSMUSG00000039782 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
| Synonyms |
A630055H10Rik |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43443255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 982
(D982V)
|
| 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: D838V
|
| SMART Domains |
Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: D838V
| 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: D1012V
|
| SMART Domains |
Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: D1012V
| 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: D982V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: D982V
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
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 |
|
|
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 |
|
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'- AGCAGACTCCACAGAGGTTTC -3'
(R):5'- CTGCTGATAACGATGCATGTATC -3'
Sequencing Primer
(F):5'- AGCCATATGTGCTAGATGACC -3'
(R):5'- ATGCATGTATCGAGAGCTGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation