Incidental Mutation 'IGL03137:Cpeb2'
| ID |
410599 |
| 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: 0.374)
|
| Stock # |
IGL03137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 43419067 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 |
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: ENSMUST00000199734
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
| Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
| Brap |
T |
C |
5: 121,803,156 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
| Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
| Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
| Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
| Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,289 (GRCm39) |
I276N |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
| Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
| Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
| Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
| Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
| Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Six5 |
T |
C |
7: 18,831,072 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,082,050 (GRCm39) |
L411H |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
| Wwp1 |
T |
A |
4: 19,678,408 (GRCm39) |
T3S |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
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 |
|
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 |
2016-08-02 |
Incidental Mutation