Incidental Mutation 'R9301:Cpeb3'
ID |
704982 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpeb3
|
Ensembl Gene |
ENSMUSG00000039652 |
Gene Name |
cytoplasmic polyadenylation element binding protein 3 |
Synonyms |
4831444O18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.409)
|
Stock # |
R9301 (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 G
at 37151473 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 301
(V301A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078690
(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: V301A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000078690 Gene: ENSMUSG00000039652 AA Change: V301A
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: V301A
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121987 Gene: ENSMUSG00000039652 AA Change: V301A
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: V8A
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115656 Gene: ENSMUSG00000039652 AA Change: V8A
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: V301A
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120416 Gene: ENSMUSG00000039652 AA Change: V301A
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: ENSMUST00000126781
AA Change: V301A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122442 Gene: ENSMUSG00000039652 AA Change: V301A
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 |
probably benign
Transcript: ENSMUST00000128642
|
SMART Domains |
Protein: ENSMUSP00000115038 Gene: ENSMUSG00000039652
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
|
SMART Domains |
Protein: ENSMUSP00000123080 Gene: ENSMUSG00000039652
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: V301A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118723 Gene: ENSMUSG00000039652 AA Change: V301A
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
|
SMART Domains |
Protein: ENSMUSP00000116749 Gene: ENSMUSG00000039652
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: V301A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116309 Gene: ENSMUSG00000039652 AA Change: V301A
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: ENSMUST00000142973
|
SMART Domains |
Protein: ENSMUSP00000117242 Gene: ENSMUSG00000039652
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: V301A
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000116172 Gene: ENSMUSG00000039652 AA Change: V301A
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: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,881,128 (GRCm39) |
N514K |
probably benign |
Het |
Adss1 |
A |
T |
12: 112,602,882 (GRCm39) |
R358W |
probably damaging |
Het |
Anxa8 |
T |
A |
14: 33,819,932 (GRCm39) |
I307N |
probably damaging |
Het |
Atad5 |
T |
A |
11: 79,986,845 (GRCm39) |
I644N |
probably damaging |
Het |
Atp5f1a |
G |
T |
18: 77,868,938 (GRCm39) |
L437F |
probably damaging |
Het |
Babam1 |
A |
G |
8: 71,855,684 (GRCm39) |
K259R |
possibly damaging |
Het |
BC048562 |
T |
G |
9: 108,323,054 (GRCm39) |
F130V |
probably damaging |
Het |
Btf3l4b |
T |
A |
13: 96,217,621 (GRCm39) |
K73* |
probably null |
Het |
Camsap2 |
T |
A |
1: 136,202,640 (GRCm39) |
|
probably null |
Het |
Ccne2 |
A |
G |
4: 11,192,881 (GRCm39) |
I27M |
probably benign |
Het |
Cd302 |
A |
G |
2: 60,082,793 (GRCm39) |
V177A |
possibly damaging |
Het |
Cfap46 |
T |
C |
7: 139,222,461 (GRCm39) |
K1172R |
|
Het |
Cic |
T |
C |
7: 24,991,117 (GRCm39) |
W2141R |
probably damaging |
Het |
Cpsf3 |
A |
G |
12: 21,350,112 (GRCm39) |
K277R |
possibly damaging |
Het |
Cstl1 |
A |
G |
2: 148,592,926 (GRCm39) |
H27R |
possibly damaging |
Het |
Dapk1 |
T |
A |
13: 60,866,125 (GRCm39) |
I188K |
possibly damaging |
Het |
Dock6 |
T |
C |
9: 21,729,111 (GRCm39) |
T1301A |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,848,292 (GRCm39) |
C133* |
probably null |
Het |
Ermap |
T |
A |
4: 119,042,744 (GRCm39) |
I260F |
probably damaging |
Het |
Fbxw22 |
T |
G |
9: 109,215,653 (GRCm39) |
E198D |
possibly damaging |
Het |
Flt4 |
T |
C |
11: 49,516,241 (GRCm39) |
Y115H |
possibly damaging |
Het |
Fmo9 |
A |
C |
1: 166,494,794 (GRCm39) |
I369S |
probably damaging |
Het |
Frmd4a |
T |
A |
2: 4,157,904 (GRCm39) |
S6T |
probably benign |
Het |
Golga5 |
A |
T |
12: 102,443,057 (GRCm39) |
I330L |
probably benign |
Het |
Helq |
C |
A |
5: 100,927,158 (GRCm39) |
V643F |
probably damaging |
Het |
Ino80d |
A |
T |
1: 63,104,969 (GRCm39) |
L369H |
probably damaging |
Het |
Kank1 |
A |
T |
19: 25,388,798 (GRCm39) |
M824L |
probably benign |
Het |
Lilrb4b |
T |
C |
10: 51,356,801 (GRCm39) |
|
probably benign |
Het |
Ltbp4 |
T |
A |
7: 27,021,578 (GRCm39) |
D1003V |
probably damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,341,886 (GRCm39) |
S366P |
probably damaging |
Het |
Mdga1 |
T |
C |
17: 30,069,512 (GRCm39) |
H178R |
probably benign |
Het |
Mlh3 |
A |
G |
12: 85,292,613 (GRCm39) |
V1266A |
possibly damaging |
Het |
Nrp1 |
A |
G |
8: 129,089,859 (GRCm39) |
E78G |
probably damaging |
Het |
Or1l4 |
A |
T |
2: 37,091,255 (GRCm39) |
M1L |
probably benign |
Het |
Or4z4 |
A |
T |
19: 12,076,826 (GRCm39) |
M59K |
probably damaging |
Het |
Or5d16 |
A |
G |
2: 87,773,297 (GRCm39) |
V225A |
probably benign |
Het |
Or8k33 |
A |
G |
2: 86,383,818 (GRCm39) |
S217P |
possibly damaging |
Het |
Ovch2 |
A |
G |
7: 107,395,815 (GRCm39) |
S68P |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,672,614 (GRCm39) |
I1110F |
probably damaging |
Het |
Pcyox1 |
A |
C |
6: 86,369,241 (GRCm39) |
L195R |
possibly damaging |
Het |
Pde11a |
A |
G |
2: 75,848,217 (GRCm39) |
L870P |
probably damaging |
Het |
Pgpep1 |
G |
A |
8: 71,103,418 (GRCm39) |
T152M |
probably damaging |
Het |
Pik3c2a |
A |
T |
7: 115,945,413 (GRCm39) |
D1464E |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,167,610 (GRCm39) |
K468R |
possibly damaging |
Het |
Postn |
C |
T |
3: 54,292,659 (GRCm39) |
T742I |
probably benign |
Het |
Ppm1j |
T |
A |
3: 104,691,057 (GRCm39) |
Y274N |
probably damaging |
Het |
Ppp2cb |
T |
C |
8: 34,090,038 (GRCm39) |
C32R |
possibly damaging |
Het |
Prmt9 |
T |
A |
8: 78,282,374 (GRCm39) |
Y90* |
probably null |
Het |
Ptk2 |
T |
C |
15: 73,146,346 (GRCm39) |
Y441C |
probably damaging |
Het |
Rabggta |
T |
A |
14: 55,957,083 (GRCm39) |
I266L |
probably benign |
Het |
Rft1 |
C |
T |
14: 30,398,812 (GRCm39) |
R261W |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 67,197,680 (GRCm39) |
A195V |
probably damaging |
Het |
Rtkn2 |
T |
G |
10: 67,871,677 (GRCm39) |
L355R |
possibly damaging |
Het |
Runx1t1 |
A |
T |
4: 13,875,477 (GRCm39) |
D427V |
possibly damaging |
Het |
Slc15a4 |
T |
G |
5: 127,673,812 (GRCm39) |
H534P |
probably benign |
Het |
Slc16a7 |
T |
C |
10: 125,066,880 (GRCm39) |
N253S |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,897,063 (GRCm39) |
S408P |
probably damaging |
Het |
Slc52a2 |
G |
A |
15: 76,424,406 (GRCm39) |
A215T |
probably damaging |
Het |
Smc1b |
T |
A |
15: 85,011,995 (GRCm39) |
I126L |
probably damaging |
Het |
Sycp2 |
A |
T |
2: 178,023,650 (GRCm39) |
N455K |
probably benign |
Het |
Tbck |
T |
C |
3: 132,543,738 (GRCm39) |
V863A |
probably benign |
Het |
Tfap2c |
A |
G |
2: 172,395,347 (GRCm39) |
M263V |
probably benign |
Het |
Tmem45a |
A |
G |
16: 56,627,134 (GRCm39) |
V245A |
probably damaging |
Het |
Top2a |
C |
T |
11: 98,897,790 (GRCm39) |
G759D |
probably damaging |
Het |
Traf5 |
A |
G |
1: 191,729,489 (GRCm39) |
S218P |
|
Het |
Tsfm |
T |
C |
10: 126,866,502 (GRCm39) |
R20G |
probably benign |
Het |
Ugt2a2 |
G |
T |
5: 87,608,382 (GRCm39) |
Q486K |
probably damaging |
Het |
Usp34 |
T |
A |
11: 23,422,951 (GRCm39) |
D3108E |
|
Het |
Wnt11 |
A |
G |
7: 98,495,796 (GRCm39) |
Y100C |
probably damaging |
Het |
Zbtb49 |
A |
G |
5: 38,370,931 (GRCm39) |
C317R |
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 |
|
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 |
R9748:Cpeb3
|
UTSW |
19 |
37,151,926 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCTAAATAACAGCGAGTGGACC -3'
(R):5'- ATCATGACCAGCAAGCCGTC -3'
Sequencing Primer
(F):5'- CAGCGAGTGGACCAATTAAAATAAC -3'
(R):5'- AAGCCGTCCTCATCCTCGG -3'
|
Posted On |
2022-03-25 |