Incidental Mutation 'R8212:Cpne1'
| ID |
636199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne1
|
| Ensembl Gene |
ENSMUSG00000074643 |
| Gene Name |
copine I |
| Synonyms |
1810028N16Rik |
| MMRRC Submission |
067635-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.400)
|
| Stock # |
R8212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155920134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 215
(D215G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105236
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000136296]
[ENSMUST00000142960]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000154889]
[ENSMUST00000183518]
[ENSMUST00000183972]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000184899]
|
| AlphaFold |
Q8C166 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079312
AA Change: D215G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643
AA Change: D215G
| 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: D215G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643
AA Change: D215G
| 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: D215G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643
AA Change: D215G
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000136296
AA Change: D191G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122994
Gene: ENSMUSG00000074643
AA Change: D191G
| 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: ENSMUST00000140109
|
| SMART Domains |
Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643
| 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 |
probably damaging
Transcript: ENSMUST00000142960
AA Change: D215G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121299
Gene: ENSMUSG00000074643
AA Change: D215G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
2.4e-11 |
SMART |
|
C2
|
123 |
206 |
3e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147627
AA Change: D215G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116982
Gene: ENSMUSG00000074643
AA Change: D215G
| 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 |
possibly damaging
Transcript: ENSMUST00000153634
AA Change: D191G
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115167
Gene: ENSMUSG00000074643
AA Change: D191G
| 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: 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: 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: 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: 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: ENSMUST00000183518
|
| SMART Domains |
Protein: ENSMUSP00000139010
Gene: ENSMUSG00000098950
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183733
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
| 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (37/38) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,670,240 (GRCm39) |
I2369V |
probably benign |
Het |
| Ager |
G |
A |
17: 34,819,586 (GRCm39) |
R368H |
possibly damaging |
Het |
| Arl2 |
G |
T |
19: 6,187,596 (GRCm39) |
T84K |
probably damaging |
Het |
| Cfap126 |
A |
T |
1: 170,953,630 (GRCm39) |
T67S |
probably damaging |
Het |
| Cfap45 |
A |
G |
1: 172,369,067 (GRCm39) |
|
probably null |
Het |
| Cfdp1 |
A |
T |
8: 112,571,815 (GRCm39) |
N31K |
probably damaging |
Het |
| Clpx |
A |
G |
9: 65,228,173 (GRCm39) |
T408A |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,932,424 (GRCm39) |
N526S |
probably benign |
Het |
| Cstf1 |
T |
C |
2: 172,219,872 (GRCm39) |
S328P |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,637,205 (GRCm39) |
E193G |
possibly damaging |
Het |
| Fam83c |
A |
G |
2: 155,671,207 (GRCm39) |
F743L |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,682,064 (GRCm39) |
I364T |
probably benign |
Het |
| Foxo3 |
T |
C |
10: 42,072,991 (GRCm39) |
M509V |
possibly damaging |
Het |
| Galnt6 |
T |
C |
15: 100,591,308 (GRCm39) |
T599A |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,676 (GRCm39) |
S58P |
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,480,242 (GRCm39) |
A402V |
probably benign |
Het |
| Heatr5a |
C |
A |
12: 51,946,012 (GRCm39) |
A1200S |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,116,762 (GRCm39) |
D162V |
probably benign |
Het |
| Or14j6 |
T |
C |
17: 38,215,148 (GRCm39) |
V237A |
probably benign |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pcf11 |
G |
A |
7: 92,308,706 (GRCm39) |
R589C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,362,696 (GRCm39) |
D574G |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,422,250 (GRCm39) |
S68P |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,460,188 (GRCm39) |
M95V |
probably damaging |
Het |
| Polr2h |
T |
C |
16: 20,536,746 (GRCm39) |
|
probably null |
Het |
| Ppef2 |
T |
A |
5: 92,376,524 (GRCm39) |
I668L |
possibly damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rwdd1 |
A |
G |
10: 33,878,523 (GRCm39) |
V104A |
probably damaging |
Het |
| Slc2a9 |
G |
T |
5: 38,637,402 (GRCm39) |
H25N |
probably benign |
Het |
| Slc36a3 |
T |
A |
11: 55,015,907 (GRCm39) |
I416F |
probably damaging |
Het |
| Sppl2b |
T |
A |
10: 80,701,193 (GRCm39) |
V356D |
probably damaging |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,555,918 (GRCm39) |
T99A |
probably damaging |
Het |
| Tm9sf3 |
A |
T |
19: 41,229,074 (GRCm39) |
M243K |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,746,832 (GRCm39) |
Y6H |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,612,626 (GRCm39) |
H17151L |
probably benign |
Het |
| Ube2o |
A |
G |
11: 116,439,624 (GRCm39) |
V182A |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,310,373 (GRCm39) |
D724E |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,569 (GRCm39) |
V946D |
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 |
|
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 |
|
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'- ACACATTCAAACTCAGCCTAGTGG -3'
(R):5'- TACCTGGAAGCGCTTCTCAG -3'
Sequencing Primer
(F):5'- ACTCAGCCTAGTGGGGAGAC -3'
(R):5'- GGAAGCGCTTCTCAGTCTCTCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation