Incidental Mutation 'R2518:Cpne1'
| ID |
254032 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne1
|
| Ensembl Gene |
ENSMUSG00000074643 |
| Gene Name |
copine I |
| Synonyms |
1810028N16Rik |
| MMRRC Submission |
040422-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
R2518 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 155915891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 433
(A433E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038860]
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000153634]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000136296]
[ENSMUST00000142960]
[ENSMUST00000154889]
[ENSMUST00000147627]
[ENSMUST00000184265]
[ENSMUST00000184152]
|
| AlphaFold |
Q8C166 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038860
|
| SMART Domains |
Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
19 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
137 |
159 |
N/A |
INTRINSIC |
|
transmembrane domain
|
166 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
222 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
293 |
426 |
1.9e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079312
AA Change: A433E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: A433E
| 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 |
probably damaging
Transcript: ENSMUST00000109607
AA Change: A433E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: A433E
| 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 damaging
Transcript: ENSMUST00000109608
AA Change: A433E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: A433E
| 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 |
noncoding transcript
Transcript: ENSMUST00000125996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126513
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000142975
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140109
AA Change: A72E
|
| SMART Domains |
Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643
AA Change: A72E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Copine
|
1 |
148 |
2.1e-50 |
PFAM |
|
Pfam:vWA-TerF-like
|
5 |
111 |
2.5e-7 |
PFAM |
|
low complexity region
|
167 |
185 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147956
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149139
|
| Predicted Effect |
probably benign
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 |
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: 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 |
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 |
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 |
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: 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: 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 |
unknown
Transcript: ENSMUST00000183733
AA Change: Q186K
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183353
|
| Predicted Effect |
probably benign
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 |
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: 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: ENSMUST00000184152
|
| SMART Domains |
Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
G |
8: 25,127,157 (GRCm39) |
C480R |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,675,797 (GRCm39) |
T604K |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,168,775 (GRCm39) |
V279A |
probably damaging |
Het |
| C2cd2 |
G |
A |
16: 97,723,286 (GRCm39) |
T77I |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,510,526 (GRCm39) |
H527R |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Cit |
A |
G |
5: 116,125,105 (GRCm39) |
K1612E |
probably damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,900,954 (GRCm39) |
Y663* |
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,376,672 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,947,468 (GRCm39) |
N1095D |
probably benign |
Het |
| Cyfip1 |
C |
T |
7: 55,578,032 (GRCm39) |
L1181F |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,470,127 (GRCm39) |
I220N |
probably damaging |
Het |
| Duxbl1 |
G |
C |
14: 25,988,172 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,335,760 (GRCm39) |
R478H |
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,322,449 (GRCm39) |
S734T |
possibly damaging |
Het |
| Fut10 |
T |
G |
8: 31,726,495 (GRCm39) |
S417A |
probably benign |
Het |
| Gm9945 |
C |
T |
11: 53,371,163 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,385,680 (GRCm39) |
E934G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Hdac5 |
A |
G |
11: 102,087,962 (GRCm39) |
V949A |
probably damaging |
Het |
| Hdgfl1 |
G |
T |
13: 26,953,732 (GRCm39) |
L114I |
probably benign |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,083 (GRCm39) |
M94L |
unknown |
Het |
| Irs2 |
C |
A |
8: 11,055,352 (GRCm39) |
A1027S |
probably benign |
Het |
| Itga2 |
A |
T |
13: 115,017,578 (GRCm39) |
C111S |
probably damaging |
Het |
| Khdrbs1 |
T |
C |
4: 129,614,540 (GRCm39) |
T338A |
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,870,161 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
T |
C |
7: 30,275,493 (GRCm39) |
N1822S |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,830,310 (GRCm39) |
I136T |
probably benign |
Het |
| Lyar |
T |
A |
5: 38,385,276 (GRCm39) |
D105E |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,844,469 (GRCm39) |
D366E |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
A |
2: 52,139,523 (GRCm39) |
K95* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,207,776 (GRCm39) |
D56G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,470,109 (GRCm39) |
F334Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,395 (GRCm39) |
F153I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,673 (GRCm39) |
N172S |
probably damaging |
Het |
| Pde8a |
C |
A |
7: 80,967,170 (GRCm39) |
T437K |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,377 (GRCm39) |
N512K |
possibly damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,473 (GRCm39) |
Q273R |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,068 (GRCm39) |
D330G |
probably damaging |
Het |
| Ren1 |
G |
A |
1: 133,287,862 (GRCm39) |
A399T |
probably damaging |
Het |
| Rnft2 |
G |
T |
5: 118,332,670 (GRCm39) |
|
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,776,099 (GRCm39) |
S27T |
probably benign |
Het |
| Shld1 |
T |
A |
2: 132,592,447 (GRCm39) |
S165T |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,885,692 (GRCm39) |
K128E |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,882,678 (GRCm39) |
W241R |
probably benign |
Het |
| Slc24a4 |
T |
A |
12: 102,188,310 (GRCm39) |
H134Q |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,961,124 (GRCm39) |
L165Q |
possibly damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,949,630 (GRCm39) |
I240V |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,029,810 (GRCm39) |
F74L |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tarbp2 |
A |
G |
15: 102,426,992 (GRCm39) |
E3G |
possibly damaging |
Het |
| Tas2r130 |
A |
T |
6: 131,607,036 (GRCm39) |
I253K |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,588 (GRCm39) |
C319G |
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,571,021 (GRCm39) |
N165K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,080 (GRCm39) |
I429T |
probably benign |
Het |
| Trabd2b |
A |
T |
4: 114,457,100 (GRCm39) |
D339V |
probably damaging |
Het |
| Tst |
T |
C |
15: 78,290,033 (GRCm39) |
M1V |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,859,435 (GRCm39) |
N335K |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,256,394 (GRCm39) |
T633M |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp953 |
A |
G |
13: 67,496,003 (GRCm39) |
Y13H |
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 |
|
R3000:Cpne1
|
UTSW |
2 |
155,915,342 (GRCm39) |
makesense |
probably null |
|
|
R3875:Cpne1
|
UTSW |
2 |
155,918,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Cpne1
|
UTSW |
2 |
155,940,193 (GRCm39) |
intron |
probably benign |
|
|
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 |
PCR Primer
(F):5'- GAAAAGGCTTTATCTCCTGGCCC -3'
(R):5'- ACCGTGTACAGGGCATCTTG -3'
Sequencing Primer
(F):5'- GTCCACTCACATTCTGAAATCG -3'
(R):5'- ACAGGGCATCTTGGCAGTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation