Incidental Mutation 'R9374:Cpeb2'
| ID |
709488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb2
|
| Ensembl Gene |
ENSMUSG00000039782 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
| Synonyms |
A630055H10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.374)
|
| Stock # |
R9374 (G1)
|
| Quality Score |
116.008 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 43391584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 260
(S260*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114066]
[ENSMUST00000166713]
[ENSMUST00000169035]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000114065
AA Change: S94*
|
| SMART Domains |
Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: S94*
| 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 |
probably null
Transcript: ENSMUST00000166713
AA Change: S260*
|
| SMART Domains |
Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: S260*
| 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
AA Change: S260*
|
| SMART Domains |
Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: S260*
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
| Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
| Celf2 |
G |
A |
2: 6,590,886 (GRCm39) |
T303I |
possibly damaging |
Het |
| Cep290 |
T |
C |
10: 100,372,729 (GRCm39) |
S1176P |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,857,857 (GRCm39) |
I51N |
probably benign |
Het |
| Erbb4 |
G |
A |
1: 68,779,642 (GRCm39) |
Q45* |
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,988 (GRCm39) |
S499A |
possibly damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,850 (GRCm39) |
N114S |
probably benign |
Het |
| Hnrnph3 |
T |
C |
10: 62,853,957 (GRCm39) |
M54V |
probably benign |
Het |
| Map7d1 |
T |
C |
4: 126,127,429 (GRCm39) |
E720G |
unknown |
Het |
| Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
| Mef2c |
A |
G |
13: 83,810,461 (GRCm39) |
N371S |
probably benign |
Het |
| Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
| Mtor |
C |
T |
4: 148,599,397 (GRCm39) |
R1482C |
probably damaging |
Het |
| Ndst1 |
G |
T |
18: 60,845,931 (GRCm39) |
T126K |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,778,431 (GRCm39) |
|
probably benign |
Het |
| Obscn |
T |
C |
11: 58,922,787 (GRCm39) |
I5850V |
possibly damaging |
Het |
| Or11g1 |
C |
T |
14: 50,651,625 (GRCm39) |
S208F |
probably benign |
Het |
| Or5d14 |
C |
T |
2: 87,880,509 (GRCm39) |
W153* |
probably null |
Het |
| Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
| Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
| Pi4ka |
T |
C |
16: 17,125,574 (GRCm39) |
E1187G |
|
Het |
| Pkn1 |
A |
T |
8: 84,404,367 (GRCm39) |
N543K |
probably benign |
Het |
| Plin1 |
T |
C |
7: 79,372,544 (GRCm39) |
N343D |
probably benign |
Het |
| Prpf4 |
T |
C |
4: 62,336,131 (GRCm39) |
V286A |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
| Rbpms |
A |
G |
8: 34,294,173 (GRCm39) |
F190S |
possibly damaging |
Het |
| Rpl10a |
T |
A |
17: 28,548,006 (GRCm39) |
F49Y |
possibly damaging |
Het |
| Slc32a1 |
A |
G |
2: 158,455,995 (GRCm39) |
T217A |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,055,827 (GRCm39) |
S25G |
probably benign |
Het |
| Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,718,843 (GRCm39) |
N842S |
possibly damaging |
Het |
| Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
| Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
| Tcaf2 |
C |
T |
6: 42,619,728 (GRCm39) |
A100T |
probably benign |
Het |
| Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
| Tcf15 |
T |
C |
2: 151,986,039 (GRCm39) |
L165P |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,399,988 (GRCm39) |
V62A |
probably damaging |
Het |
| Tmem200c |
G |
T |
17: 69,148,682 (GRCm39) |
G422W |
probably damaging |
Het |
| Tnfsf13b |
A |
G |
8: 10,085,391 (GRCm39) |
I294V |
possibly damaging |
Het |
| Tns3 |
T |
A |
11: 8,442,606 (GRCm39) |
T586S |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,629,460 (GRCm39) |
E1319V |
possibly damaging |
Het |
| Vegfc |
A |
G |
8: 54,622,180 (GRCm39) |
I221V |
possibly damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,787,859 (GRCm39) |
L497F |
probably benign |
Het |
| Wdr49 |
T |
C |
3: 75,230,931 (GRCm39) |
D577G |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,828,512 (GRCm39) |
F783L |
possibly 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 |
|
|
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 |
|
|
|
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'- AAAGAGTTGAGCCCGCCAC -3'
(R):5'- TAGAAGCCGTTCTCCGAGTC -3'
Sequencing Primer
(F):5'- GGCCGCTTCAGCCCAAC -3'
(R):5'- TCTGCAGGCTGCTGAAGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation