Incidental Mutation 'R3848:Cpeb2'
| ID |
359721 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb2
|
| Ensembl Gene |
ENSMUSG00000039782 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 2 |
| Synonyms |
A630055H10Rik |
| MMRRC Submission |
040896-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R3848 (G1)
|
| Quality Score |
62 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
43390513-43447067 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 43394788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 64
(S64A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109700
(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: S423A
|
| SMART Domains |
Protein: ENSMUSP00000109699
Gene: ENSMUSG00000039782
AA Change: S423A
| 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 damaging
Transcript: ENSMUST00000114066
AA Change: S64A
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109700
Gene: ENSMUSG00000039782
AA Change: S64A
| 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: S589A
|
| SMART Domains |
Protein: ENSMUSP00000130921
Gene: ENSMUSG00000039782
AA Change: S589A
| 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 |
possibly damaging
Transcript: ENSMUST00000169035
AA Change: S589A
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125857
Gene: ENSMUSG00000039782
AA Change: S589A
| 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
|
| Meta Mutation Damage Score |
0.1158 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,191 (GRCm39) |
V4465A |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,718,377 (GRCm39) |
|
probably benign |
Het |
| Anxa2 |
G |
T |
9: 69,374,624 (GRCm39) |
D34Y |
probably damaging |
Het |
| Asic1 |
A |
G |
15: 99,570,814 (GRCm39) |
N143S |
probably benign |
Het |
| Catsperb |
A |
C |
12: 101,475,585 (GRCm39) |
Q376H |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,452,525 (GRCm39) |
E132G |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,344,473 (GRCm39) |
D22G |
possibly damaging |
Het |
| Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,289,374 (GRCm39) |
V48A |
possibly damaging |
Het |
| Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
| Cplx3 |
G |
A |
9: 57,515,600 (GRCm39) |
A425V |
possibly damaging |
Het |
| Ctsc |
A |
G |
7: 87,958,818 (GRCm39) |
H366R |
probably benign |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Efhb |
A |
T |
17: 53,734,024 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,061,410 (GRCm39) |
V4331D |
probably benign |
Het |
| Fbxl8 |
T |
C |
8: 105,993,781 (GRCm39) |
S46P |
probably benign |
Het |
| Fbxo38 |
G |
A |
18: 62,648,144 (GRCm39) |
S798F |
possibly damaging |
Het |
| Fggy |
T |
C |
4: 95,489,361 (GRCm39) |
|
probably benign |
Het |
| Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
| Gm13941 |
T |
C |
2: 110,935,198 (GRCm39) |
M11V |
unknown |
Het |
| Hoxd8 |
A |
G |
2: 74,535,929 (GRCm39) |
Y13C |
possibly damaging |
Het |
| Hsf4 |
T |
C |
8: 105,997,469 (GRCm39) |
F101L |
probably damaging |
Het |
| Jph2 |
G |
A |
2: 163,181,332 (GRCm39) |
P611S |
probably benign |
Het |
| Kifbp |
A |
G |
10: 62,405,249 (GRCm39) |
Y64H |
probably damaging |
Het |
| Kndc1 |
T |
C |
7: 139,488,893 (GRCm39) |
S183P |
probably damaging |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,121 (GRCm39) |
E132G |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
| Lrpprc |
T |
C |
17: 85,078,355 (GRCm39) |
I308V |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,997,218 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Or51v8 |
A |
G |
7: 103,319,908 (GRCm39) |
V110A |
probably damaging |
Het |
| Or52e8b |
A |
G |
7: 104,673,539 (GRCm39) |
V216A |
probably damaging |
Het |
| Or8u10 |
A |
T |
2: 85,915,751 (GRCm39) |
Y123* |
probably null |
Het |
| Orc2 |
T |
C |
1: 58,520,151 (GRCm39) |
T225A |
probably benign |
Het |
| P2ry1 |
G |
A |
3: 60,910,880 (GRCm39) |
W6* |
probably null |
Het |
| Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
| Pigt |
G |
A |
2: 164,340,500 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,963,785 (GRCm39) |
C71* |
probably null |
Het |
| Plcxd2 |
T |
C |
16: 45,792,629 (GRCm39) |
T237A |
probably damaging |
Het |
| Pnrc1 |
T |
C |
4: 33,246,252 (GRCm39) |
K236E |
probably damaging |
Het |
| Ppargc1b |
T |
A |
18: 61,444,113 (GRCm39) |
D350V |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,134 (GRCm39) |
S1349P |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Sell |
A |
T |
1: 163,893,230 (GRCm39) |
K149* |
probably null |
Het |
| Sidt1 |
A |
G |
16: 44,076,322 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
C |
G |
7: 49,577,306 (GRCm39) |
|
probably benign |
Het |
| Slc7a14 |
A |
T |
3: 31,291,623 (GRCm39) |
N218K |
probably damaging |
Het |
| Spice1 |
C |
T |
16: 44,199,254 (GRCm39) |
R569* |
probably null |
Het |
| Stk35 |
G |
T |
2: 129,642,656 (GRCm39) |
A66S |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,926,298 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,909,369 (GRCm39) |
R1632S |
possibly damaging |
Het |
| Ttc6 |
G |
A |
12: 57,723,932 (GRCm39) |
R1020H |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,952 (GRCm39) |
I708T |
possibly damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,679,389 (GRCm39) |
H612N |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,445,312 (GRCm39) |
D37E |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,225 (GRCm39) |
D1092G |
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 |
|
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'- ATTATACGCTCTCTAAGGGCTG -3'
(R):5'- ATACGGCTACTGATGCCTCC -3'
Sequencing Primer
(F):5'- CTTGGAGCAACCATCAGA -3'
(R):5'- ACCACCCCACTTCCTATTTTGAAAG -3'
|
| Posted On |
2015-12-09 |
Incidental Mutation