Incidental Mutation 'R4607:Cpeb3'
| ID |
346110 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb3
|
| Ensembl Gene |
ENSMUSG00000039652 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 3 |
| Synonyms |
4831444O18Rik |
| MMRRC Submission |
041818-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.409)
|
| Stock # |
R4607 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36998691-37186000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37152239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 46
(S46P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120416
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079754]
[ENSMUST00000123727]
[ENSMUST00000124158]
[ENSMUST00000126188]
[ENSMUST00000126781]
[ENSMUST00000128642]
[ENSMUST00000131917]
[ENSMUST00000132580]
[ENSMUST00000133988]
[ENSMUST00000136286]
[ENSMUST00000142973]
[ENSMUST00000154376]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079754
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
RRM
|
460 |
532 |
2.01e-5 |
SMART |
|
RRM
|
568 |
641 |
1e-2 |
SMART |
|
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123727
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
RRM
|
429 |
501 |
2.01e-5 |
SMART |
|
RRM
|
537 |
610 |
1e-2 |
SMART |
|
PDB:2M13|A
|
611 |
676 |
1e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124158
|
| SMART Domains |
Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
159 |
231 |
2.01e-5 |
SMART |
|
RRM
|
267 |
340 |
1e-2 |
SMART |
|
PDB:2M13|A
|
341 |
406 |
6e-7 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126188
AA Change: S46P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
RRM
|
437 |
509 |
2.01e-5 |
SMART |
|
RRM
|
545 |
618 |
1e-2 |
SMART |
|
PDB:2M13|A
|
619 |
684 |
1e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126781
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
RRM
|
437 |
509 |
8.3e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128642
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000115038
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131917
AA Change: S46P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000123080
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132580
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
RRM
|
460 |
532 |
2.01e-5 |
SMART |
|
RRM
|
568 |
641 |
1e-2 |
SMART |
|
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133988
AA Change: S46P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116749
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000136286
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
RRM
|
443 |
515 |
2.01e-5 |
SMART |
|
RRM
|
551 |
624 |
1e-2 |
SMART |
|
PDB:2M13|A
|
625 |
690 |
1e-6 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142973
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000117242
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154376
AA Change: S46P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: S46P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
RRM
|
460 |
532 |
2.01e-5 |
SMART |
|
RRM
|
568 |
641 |
1e-2 |
SMART |
|
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180609
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175253
|
| Meta Mutation Damage Score |
0.0578 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (65/67) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility, increased anxiety-related response, enhanced contextual conditioning behavior, abnormal spatial reference memory, hypoactivity and abnormal hippocampus pyramidal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss3 |
T |
A |
10: 106,802,890 (GRCm39) |
I452F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,128,081 (GRCm39) |
V800G |
probably damaging |
Het |
| Aldh1a1 |
A |
T |
19: 20,599,051 (GRCm39) |
Y154F |
probably benign |
Het |
| Bbs10 |
T |
G |
10: 111,136,681 (GRCm39) |
I598S |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,854,131 (GRCm39) |
|
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,134,078 (GRCm39) |
I310V |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,650,475 (GRCm39) |
I151T |
possibly damaging |
Het |
| Dsg4 |
C |
T |
18: 20,604,302 (GRCm39) |
T923M |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,853,769 (GRCm39) |
R618L |
probably benign |
Het |
| Erlin1 |
C |
T |
19: 44,051,474 (GRCm39) |
V76M |
probably damaging |
Het |
| Fam161a |
G |
A |
11: 22,970,710 (GRCm39) |
S296N |
probably benign |
Het |
| Fam187b |
T |
A |
7: 30,677,170 (GRCm39) |
N226K |
probably benign |
Het |
| Fes |
G |
A |
7: 80,036,959 (GRCm39) |
R42W |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,993,728 (GRCm39) |
N374K |
possibly damaging |
Het |
| Fpgt |
G |
A |
3: 154,792,333 (GRCm39) |
Q565* |
probably null |
Het |
| Gm26657 |
C |
A |
4: 56,741,114 (GRCm39) |
H100N |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,511,075 (GRCm39) |
|
probably null |
Het |
| Gsg1l |
T |
A |
7: 125,557,721 (GRCm39) |
I136F |
probably damaging |
Het |
| Hhip |
C |
T |
8: 80,724,192 (GRCm39) |
R350Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,263,271 (GRCm39) |
R394Q |
probably damaging |
Het |
| Ipo11 |
A |
G |
13: 107,037,319 (GRCm39) |
S175P |
probably damaging |
Het |
| Klk13 |
C |
A |
7: 43,363,284 (GRCm39) |
C10* |
probably null |
Het |
| Leng8 |
T |
A |
7: 4,147,796 (GRCm39) |
I607N |
probably damaging |
Het |
| Map3k2 |
T |
C |
18: 32,333,030 (GRCm39) |
L68P |
probably damaging |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mink1 |
A |
G |
11: 70,496,893 (GRCm39) |
E417G |
possibly damaging |
Het |
| Myrf |
G |
T |
19: 10,206,431 (GRCm39) |
D29E |
probably damaging |
Het |
| Nelfcd |
T |
A |
2: 174,264,955 (GRCm39) |
D215E |
probably benign |
Het |
| Nostrin |
G |
A |
2: 69,014,243 (GRCm39) |
V400M |
possibly damaging |
Het |
| Nrip1 |
T |
C |
16: 76,089,920 (GRCm39) |
T546A |
probably benign |
Het |
| Or13a24 |
A |
G |
7: 140,154,554 (GRCm39) |
M163V |
probably benign |
Het |
| Or1l4 |
T |
A |
2: 37,092,094 (GRCm39) |
Y280* |
probably null |
Het |
| Or2h2b-ps1 |
A |
T |
17: 37,481,173 (GRCm39) |
V20E |
probably damaging |
Het |
| Or4c114 |
G |
T |
2: 88,904,656 (GRCm39) |
P260T |
probably benign |
Het |
| Or6aa1 |
A |
T |
7: 86,043,718 (GRCm39) |
|
probably null |
Het |
| Or8g32 |
T |
C |
9: 39,306,031 (GRCm39) |
*312Q |
probably null |
Het |
| P2ry6 |
A |
G |
7: 100,587,511 (GRCm39) |
Y283H |
probably damaging |
Het |
| Pcdh9 |
T |
A |
14: 93,253,009 (GRCm39) |
N1218I |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,671 (GRCm39) |
N464D |
probably damaging |
Het |
| Pramel52-ps |
G |
T |
5: 94,531,387 (GRCm39) |
R90S |
probably benign |
Het |
| Rdx |
T |
A |
9: 51,980,137 (GRCm39) |
S243R |
probably damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,594,196 (GRCm39) |
N66S |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,605,232 (GRCm39) |
R873L |
probably benign |
Het |
| Spata31e3 |
G |
A |
13: 50,399,542 (GRCm39) |
T928I |
possibly damaging |
Het |
| Strc |
T |
A |
2: 121,203,426 (GRCm39) |
I1130F |
probably benign |
Het |
| Tlk2 |
T |
A |
11: 105,145,844 (GRCm39) |
L350Q |
probably damaging |
Het |
| Tmem74 |
G |
T |
15: 43,730,554 (GRCm39) |
T163K |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,511 (GRCm39) |
H53Q |
probably benign |
Het |
| Trbv24 |
T |
C |
6: 41,195,335 (GRCm39) |
|
probably benign |
Het |
| Uba2 |
T |
C |
7: 33,854,021 (GRCm39) |
D307G |
probably damaging |
Het |
| Uty |
C |
T |
Y: 1,131,134 (GRCm39) |
R924Q |
probably damaging |
Het |
| Wdr7 |
C |
T |
18: 63,910,651 (GRCm39) |
T681I |
probably benign |
Het |
| Zbtb42 |
C |
T |
12: 112,646,976 (GRCm39) |
R384W |
probably damaging |
Het |
| Zfand4 |
T |
A |
6: 116,305,195 (GRCm39) |
C207* |
probably null |
Het |
| Zfp512b |
C |
A |
2: 181,230,567 (GRCm39) |
R441L |
probably damaging |
Het |
|
| Other mutations in Cpeb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00870:Cpeb3
|
APN |
19 |
37,031,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Cpeb3
|
APN |
19 |
37,065,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01404:Cpeb3
|
APN |
19 |
37,065,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01702:Cpeb3
|
APN |
19 |
37,103,782 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01811:Cpeb3
|
APN |
19 |
37,022,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03036:Cpeb3
|
APN |
19 |
37,002,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0580:Cpeb3
|
UTSW |
19 |
37,151,435 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1463:Cpeb3
|
UTSW |
19 |
37,116,500 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1572:Cpeb3
|
UTSW |
19 |
37,116,482 (GRCm39) |
missense |
probably benign |
0.38 |
|
R1914:Cpeb3
|
UTSW |
19 |
37,031,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1915:Cpeb3
|
UTSW |
19 |
37,031,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2031:Cpeb3
|
UTSW |
19 |
37,022,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4296:Cpeb3
|
UTSW |
19 |
37,151,389 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4528:Cpeb3
|
UTSW |
19 |
37,116,488 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4909:Cpeb3
|
UTSW |
19 |
37,151,633 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4909:Cpeb3
|
UTSW |
19 |
37,152,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Cpeb3
|
UTSW |
19 |
37,151,915 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5985:Cpeb3
|
UTSW |
19 |
37,064,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Cpeb3
|
UTSW |
19 |
37,065,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Cpeb3
|
UTSW |
19 |
37,022,089 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6768:Cpeb3
|
UTSW |
19 |
37,002,432 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6787:Cpeb3
|
UTSW |
19 |
37,022,089 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7102:Cpeb3
|
UTSW |
19 |
37,152,119 (GRCm39) |
missense |
probably benign |
|
|
R7194:Cpeb3
|
UTSW |
19 |
37,152,152 (GRCm39) |
missense |
probably benign |
|
|
R7422:Cpeb3
|
UTSW |
19 |
37,151,900 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7594:Cpeb3
|
UTSW |
19 |
37,151,551 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7630:Cpeb3
|
UTSW |
19 |
37,031,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Cpeb3
|
UTSW |
19 |
37,152,291 (GRCm39) |
small deletion |
probably benign |
|
|
R8430:Cpeb3
|
UTSW |
19 |
37,002,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Cpeb3
|
UTSW |
19 |
37,152,366 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9301:Cpeb3
|
UTSW |
19 |
37,151,473 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9748:Cpeb3
|
UTSW |
19 |
37,151,926 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTAGTGCCTGTGGACCAG -3'
(R):5'- GGGCATTCATGATCACACTGAC -3'
Sequencing Primer
(F):5'- TGTGGACCAGGTGCTGC -3'
(R):5'- TTCATGATCACACTGACAATAACG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation