Incidental Mutation 'R6787:Cpeb3'
| ID |
532457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb3
|
| Ensembl Gene |
ENSMUSG00000039652 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 3 |
| Synonyms |
4831444O18Rik |
| MMRRC Submission |
044901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R6787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
36998691-37186000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37022089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 569
(I569V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079754]
[ENSMUST00000123727]
[ENSMUST00000124158]
[ENSMUST00000126188]
[ENSMUST00000132580]
[ENSMUST00000136286]
[ENSMUST00000154376]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079754
AA Change: I586V
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: I586V
| 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: ENSMUST00000123727
AA Change: I555V
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: I555V
| 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
AA Change: I285V
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: I285V
| 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 |
probably benign
Transcript: ENSMUST00000126188
AA Change: I563V
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: I563V
| 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 |
probably benign
Transcript: ENSMUST00000132580
AA Change: I586V
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: I586V
| 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: ENSMUST00000136286
AA Change: I569V
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: I569V
| 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 |
probably benign
Transcript: ENSMUST00000154376
AA Change: I586V
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: I586V
| 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 |
|
| Meta Mutation Damage Score |
0.1198 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
A |
12: 55,126,768 (GRCm39) |
T32I |
probably benign |
Het |
| 4930486L24Rik |
T |
A |
13: 61,000,922 (GRCm39) |
I205L |
probably benign |
Het |
| Aatk |
C |
T |
11: 119,901,508 (GRCm39) |
V963M |
probably damaging |
Het |
| Adra1b |
C |
A |
11: 43,726,242 (GRCm39) |
R225L |
probably damaging |
Het |
| Adrb1 |
T |
C |
19: 56,711,021 (GRCm39) |
V73A |
probably damaging |
Het |
| Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
| BC035947 |
G |
T |
1: 78,475,527 (GRCm39) |
P335Q |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,104,553 (GRCm39) |
F2189L |
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,342,924 (GRCm39) |
I635V |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,046,374 (GRCm39) |
D42E |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,274,607 (GRCm39) |
Y878* |
probably null |
Het |
| Clpb |
A |
T |
7: 101,312,866 (GRCm39) |
|
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,701 (GRCm39) |
D297V |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,894,976 (GRCm39) |
T165A |
probably benign |
Het |
| Fam98b |
T |
C |
2: 117,093,402 (GRCm39) |
|
probably null |
Het |
| Frem2 |
T |
C |
3: 53,561,744 (GRCm39) |
N921S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,260,211 (GRCm39) |
V1039E |
probably benign |
Het |
| Gmip |
A |
G |
8: 70,266,436 (GRCm39) |
E212G |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,379,758 (GRCm39) |
|
probably benign |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,766 (GRCm39) |
N796K |
probably damaging |
Het |
| Hadhb |
T |
C |
5: 30,360,247 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
T |
A |
2: 79,119,609 (GRCm39) |
S472T |
probably damaging |
Het |
| Kcna4 |
G |
A |
2: 107,125,670 (GRCm39) |
E135K |
possibly damaging |
Het |
| Kmt2c |
G |
T |
5: 25,480,737 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,091,020 (GRCm39) |
I1620T |
unknown |
Het |
| Lins1 |
A |
G |
7: 66,363,902 (GRCm39) |
E594G |
probably benign |
Het |
| Lrrc38 |
T |
A |
4: 143,096,364 (GRCm39) |
M225K |
probably benign |
Het |
| Mphosph9 |
A |
G |
5: 124,399,090 (GRCm39) |
I975T |
probably damaging |
Het |
| Mrgprh |
T |
C |
17: 13,095,874 (GRCm39) |
F38S |
probably benign |
Het |
| Myo1h |
G |
A |
5: 114,458,714 (GRCm39) |
G150R |
probably damaging |
Het |
| Oas2 |
T |
G |
5: 120,876,863 (GRCm39) |
I391L |
possibly damaging |
Het |
| Or4a70 |
T |
A |
2: 89,324,378 (GRCm39) |
R93* |
probably null |
Het |
| Or5p72 |
T |
C |
7: 108,021,889 (GRCm39) |
I37T |
possibly damaging |
Het |
| Or6c3b |
T |
A |
10: 129,527,391 (GRCm39) |
D173V |
possibly damaging |
Het |
| Or7e178 |
T |
C |
9: 20,247,221 (GRCm39) |
D14G |
probably benign |
Het |
| Pdcd5 |
T |
C |
7: 35,342,063 (GRCm39) |
T182A |
probably damaging |
Het |
| Pdlim7 |
T |
C |
13: 55,656,810 (GRCm39) |
D48G |
probably damaging |
Het |
| Polr3b |
A |
C |
10: 84,464,489 (GRCm39) |
|
probably null |
Het |
| Psmd5 |
C |
T |
2: 34,747,649 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sdhb |
T |
C |
4: 140,703,501 (GRCm39) |
Y208H |
probably damaging |
Het |
| Serinc5 |
G |
A |
13: 92,842,740 (GRCm39) |
V397I |
possibly damaging |
Het |
| Sik2 |
A |
T |
9: 50,909,834 (GRCm39) |
M73K |
possibly damaging |
Het |
| Slc41a1 |
A |
G |
1: 131,770,487 (GRCm39) |
|
probably null |
Het |
| Slco1a1 |
T |
C |
6: 141,882,213 (GRCm39) |
I119V |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,759,418 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,754,948 (GRCm39) |
I1111V |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,949,779 (GRCm39) |
|
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 53,992,591 (GRCm39) |
|
probably null |
Het |
| Tnxb |
A |
T |
17: 34,929,710 (GRCm39) |
T2815S |
probably benign |
Het |
| Txnip |
T |
A |
3: 96,467,623 (GRCm39) |
I363N |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,499 (GRCm39) |
N134K |
possibly 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 |
|
R4607:Cpeb3
|
UTSW |
19 |
37,152,239 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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'- AGAATACTGTCTGGCCCAGG -3'
(R):5'- CAATGAGTGGCTCTTCGATCAG -3'
Sequencing Primer
(F):5'- GGGCTGCACAAATAAACTTCATTTCC -3'
(R):5'- GCTCTTCGATCAGAATTGGAAGAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation