Incidental Mutation 'R5021:Cpne1'
ID |
389179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne1
|
Ensembl Gene |
ENSMUSG00000074643 |
Gene Name |
copine I |
Synonyms |
1810028N16Rik |
MMRRC Submission |
042612-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R5021 (G1)
|
Quality Score |
154 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 155940193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000128499]
[ENSMUST00000131377]
[ENSMUST00000138068]
[ENSMUST00000154889]
[ENSMUST00000133921]
[ENSMUST00000142960]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000136296]
[ENSMUST00000183518]
[ENSMUST00000184899]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000183972]
|
AlphaFold |
Q8C166 |
Predicted Effect |
silent
Transcript: ENSMUST00000059647
|
SMART Domains |
Protein: ENSMUSP00000050461 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000109604
|
SMART Domains |
Protein: ENSMUSP00000105233 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.1e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109607
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127956
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
RRM
|
217 |
287 |
1.05e-1 |
SMART |
RRM
|
343 |
415 |
2.73e-7 |
SMART |
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000132494
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
Predicted Effect |
silent
Transcript: ENSMUST00000159952
|
SMART Domains |
Protein: ENSMUSP00000124101 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
2e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
3e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
160 |
2e-14 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000128499
|
SMART Domains |
Protein: ENSMUSP00000118067 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
6e-8 |
PDB |
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000131377
|
SMART Domains |
Protein: ENSMUSP00000120731 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
1e-7 |
PDB |
Blast:RRM_2
|
4 |
72 |
4e-29 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000138068
|
SMART Domains |
Protein: ENSMUSP00000119519 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
5e-8 |
PDB |
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154889
|
SMART Domains |
Protein: ENSMUSP00000118140 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133921
|
SMART Domains |
Protein: ENSMUSP00000122644 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
Pfam:C2
|
139 |
178 |
3.3e-3 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142960
|
SMART Domains |
Protein: ENSMUSP00000121299 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
2.4e-11 |
SMART |
C2
|
123 |
206 |
3e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153634
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000183518
|
SMART Domains |
Protein: ENSMUSP00000139010 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000162612
|
SMART Domains |
Protein: ENSMUSP00000125190 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
1e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
2e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
161 |
1e-14 |
BLAST |
|
Predicted Effect |
silent
Transcript: ENSMUST00000184899
|
SMART Domains |
Protein: ENSMUSP00000139177 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
54 |
2e-25 |
BLAST |
SCOP:d2u1a__
|
9 |
68 |
6e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184152
|
SMART Domains |
Protein: ENSMUSP00000139035 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160165
|
SMART Domains |
Protein: ENSMUSP00000124858 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
PDB:1P3W|A
|
3 |
28 |
1e-6 |
PDB |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
SMART Domains |
Protein: ENSMUSP00000138888 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
Validation Efficiency |
95% (39/41) |
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Its activity is also upregulated in mouse embryos. This gene and the gene for RNA binding motif protein 12 overlap at map location 2 H2. Two alternatively spliced variants that encode the same isoform have been identified for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano5 |
A |
T |
7: 51,205,933 (GRCm39) |
T242S |
probably benign |
Het |
B3gnt4 |
G |
C |
5: 123,649,010 (GRCm39) |
R125P |
probably damaging |
Het |
Blvrb |
A |
C |
7: 27,147,543 (GRCm39) |
M1L |
probably benign |
Het |
Cep112 |
T |
A |
11: 108,361,154 (GRCm39) |
H169Q |
possibly damaging |
Het |
Clcn1 |
A |
T |
6: 42,287,922 (GRCm39) |
K718* |
probably null |
Het |
Clhc1 |
A |
G |
11: 29,510,627 (GRCm39) |
N226S |
probably benign |
Het |
Cspg4 |
G |
A |
9: 56,805,014 (GRCm39) |
V1942I |
probably benign |
Het |
Decr2 |
A |
T |
17: 26,301,980 (GRCm39) |
L250Q |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,136,758 (GRCm39) |
T1343A |
probably damaging |
Het |
Eed |
A |
T |
7: 89,621,513 (GRCm39) |
L45M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
Fam184b |
T |
A |
5: 45,730,604 (GRCm39) |
Q476L |
probably benign |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,841,333 (GRCm39) |
D39G |
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,864,832 (GRCm39) |
Y206H |
probably damaging |
Het |
Ighv1-19 |
T |
C |
12: 114,672,686 (GRCm39) |
I6V |
probably benign |
Het |
Itm2c |
T |
C |
1: 85,833,059 (GRCm39) |
I131T |
probably damaging |
Het |
Kcnd3 |
A |
T |
3: 105,566,070 (GRCm39) |
D417V |
probably damaging |
Het |
Klf4 |
T |
C |
4: 55,530,970 (GRCm39) |
E38G |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lct |
T |
C |
1: 128,228,302 (GRCm39) |
M1064V |
probably benign |
Het |
Map4 |
C |
T |
9: 109,867,157 (GRCm39) |
Q265* |
probably null |
Het |
Mcf2l |
T |
G |
8: 13,061,808 (GRCm39) |
V893G |
probably damaging |
Het |
Mlst8 |
C |
T |
17: 24,696,193 (GRCm39) |
D179N |
possibly damaging |
Het |
Mup6 |
T |
A |
4: 59,964,352 (GRCm39) |
N18K |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,466,531 (GRCm39) |
R764W |
probably damaging |
Het |
Ncoa6 |
A |
T |
2: 155,248,869 (GRCm39) |
S1478R |
probably benign |
Het |
Pcdhga1 |
C |
A |
18: 37,796,876 (GRCm39) |
R627S |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,411,393 (GRCm39) |
D394G |
probably damaging |
Het |
Schip1 |
A |
G |
3: 68,402,585 (GRCm39) |
T221A |
probably benign |
Het |
Slc35c1 |
A |
G |
2: 92,289,366 (GRCm39) |
Y47H |
possibly damaging |
Het |
Tspan32 |
A |
G |
7: 142,568,715 (GRCm39) |
D70G |
probably damaging |
Het |
Vmn2r68 |
T |
C |
7: 84,882,942 (GRCm39) |
Y270C |
possibly damaging |
Het |
Zfp777 |
A |
G |
6: 48,019,061 (GRCm39) |
V291A |
probably damaging |
Het |
|
Other mutations in Cpne1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02118:Cpne1
|
APN |
2 |
155,919,563 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02291:Cpne1
|
APN |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Cpne1
|
APN |
2 |
155,920,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03011:Cpne1
|
APN |
2 |
155,919,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03347:Cpne1
|
APN |
2 |
155,921,096 (GRCm39) |
missense |
probably damaging |
1.00 |
johannesburg
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4304:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
FR4449:Cpne1
|
UTSW |
2 |
155,915,422 (GRCm39) |
intron |
probably benign |
|
FR4976:Cpne1
|
UTSW |
2 |
155,913,945 (GRCm39) |
frame shift |
probably null |
|
R0496:Cpne1
|
UTSW |
2 |
155,921,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R0735:Cpne1
|
UTSW |
2 |
155,920,670 (GRCm39) |
critical splice donor site |
probably null |
|
R0792:Cpne1
|
UTSW |
2 |
155,919,339 (GRCm39) |
missense |
probably benign |
0.00 |
R1874:Cpne1
|
UTSW |
2 |
155,920,302 (GRCm39) |
missense |
probably damaging |
0.99 |
R2015:Cpne1
|
UTSW |
2 |
155,920,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2518:Cpne1
|
UTSW |
2 |
155,915,891 (GRCm39) |
missense |
probably damaging |
0.99 |
R3000:Cpne1
|
UTSW |
2 |
155,915,342 (GRCm39) |
makesense |
probably null |
|
R3875:Cpne1
|
UTSW |
2 |
155,918,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R5385:Cpne1
|
UTSW |
2 |
155,916,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R5654:Cpne1
|
UTSW |
2 |
155,919,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R5959:Cpne1
|
UTSW |
2 |
155,920,143 (GRCm39) |
missense |
probably benign |
0.00 |
R6775:Cpne1
|
UTSW |
2 |
155,920,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7049:Cpne1
|
UTSW |
2 |
155,920,727 (GRCm39) |
missense |
probably damaging |
0.97 |
R7488:Cpne1
|
UTSW |
2 |
155,919,857 (GRCm39) |
missense |
probably benign |
0.00 |
R8212:Cpne1
|
UTSW |
2 |
155,920,134 (GRCm39) |
missense |
probably damaging |
0.96 |
R8332:Cpne1
|
UTSW |
2 |
155,920,317 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Cpne1
|
UTSW |
2 |
155,920,873 (GRCm39) |
missense |
probably benign |
0.30 |
R8921:Cpne1
|
UTSW |
2 |
155,913,965 (GRCm39) |
missense |
probably benign |
0.20 |
R9094:Cpne1
|
UTSW |
2 |
155,921,080 (GRCm39) |
missense |
probably damaging |
0.99 |
R9095:Cpne1
|
UTSW |
2 |
155,918,210 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9311:Cpne1
|
UTSW |
2 |
155,919,723 (GRCm39) |
missense |
probably damaging |
0.99 |
R9380:Cpne1
|
UTSW |
2 |
155,920,721 (GRCm39) |
missense |
probably benign |
0.01 |
RF034:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF037:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
RF043:Cpne1
|
UTSW |
2 |
155,915,430 (GRCm39) |
intron |
probably benign |
|
Z1176:Cpne1
|
UTSW |
2 |
155,919,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
|
Posted On |
2016-06-06 |