Incidental Mutation 'R8430:Cpeb3'
| ID |
653726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpeb3
|
| Ensembl Gene |
ENSMUSG00000039652 |
| Gene Name |
cytoplasmic polyadenylation element binding protein 3 |
| Synonyms |
4831444O18Rik |
| MMRRC Submission |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
36998691-37186000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37002406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 669
(F669I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078690
(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 damaging
Transcript: ENSMUST00000079754
AA Change: F669I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
AA Change: F669I
| 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 damaging
Transcript: ENSMUST00000123727
AA Change: F638I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121987
Gene: ENSMUSG00000039652
AA Change: F638I
| 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 damaging
Transcript: ENSMUST00000124158
AA Change: F368I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115656
Gene: ENSMUSG00000039652
AA Change: F368I
| 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 damaging
Transcript: ENSMUST00000126188
AA Change: F646I
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
AA Change: F646I
| 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 damaging
Transcript: ENSMUST00000132580
AA Change: F669I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
AA Change: F669I
| 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 damaging
Transcript: ENSMUST00000136286
AA Change: F652I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
AA Change: F652I
| 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 damaging
Transcript: ENSMUST00000154376
AA Change: F669I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116172
Gene: ENSMUSG00000039652
AA Change: F669I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Csnk1g1 |
C |
A |
9: 65,906,803 (GRCm39) |
T140K |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
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 |
|
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 |
|
|
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'- TTTCCAGAACACCGTGAGCC -3'
(R):5'- CGCTTTACAAGTGAGATAGCCAG -3'
Sequencing Primer
(F):5'- GATCTACTCCAGTACTTGTAGCTGTG -3'
(R):5'- CTTTACAAGTGAGATAGCCAGTCGAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation