Incidental Mutation 'R5654:Cpne1'
ID |
442155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne1
|
Ensembl Gene |
ENSMUSG00000074643 |
Gene Name |
copine I |
Synonyms |
1810028N16Rik |
MMRRC Submission |
043300-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.400)
|
Stock # |
R5654 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155913765-155953847 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155919561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 303
(S303P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000078292
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079312]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000132494]
[ENSMUST00000133921]
[ENSMUST00000153634]
[ENSMUST00000136296]
[ENSMUST00000147627]
[ENSMUST00000142960]
[ENSMUST00000154889]
[ENSMUST00000183518]
[ENSMUST00000183972]
[ENSMUST00000184265]
[ENSMUST00000184152]
[ENSMUST00000184899]
|
AlphaFold |
Q8C166 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079312
AA Change: S303P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643 AA Change: S303P
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: S303P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643 AA Change: S303P
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: S303P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643 AA Change: S303P
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: 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 |
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 damaging
Transcript: ENSMUST00000153634
AA Change: S279P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643 AA Change: S279P
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 damaging
Transcript: ENSMUST00000136296
AA Change: S279P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643 AA Change: S279P
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 damaging
Transcript: ENSMUST00000147627
AA Change: S303P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643 AA Change: S303P
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: S70P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142975
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147956
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183353
|
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 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: 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: 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: 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: ENSMUST00000183518
|
SMART Domains |
Protein: ENSMUSP00000139010 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184933
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.9145 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
96% (69/72) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb6 |
T |
C |
1: 75,151,479 (GRCm39) |
|
probably null |
Het |
Abcc9 |
G |
A |
6: 142,571,371 (GRCm39) |
|
probably benign |
Het |
Acss2 |
T |
C |
2: 155,416,575 (GRCm39) |
|
probably benign |
Het |
Atp8b4 |
G |
A |
2: 126,217,725 (GRCm39) |
T597I |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,961,015 (GRCm39) |
N796I |
probably benign |
Het |
Caskin2 |
T |
C |
11: 115,690,905 (GRCm39) |
|
probably null |
Het |
Cdhr2 |
A |
G |
13: 54,884,349 (GRCm39) |
N1295D |
probably benign |
Het |
Cog3 |
G |
A |
14: 75,962,239 (GRCm39) |
T534M |
probably benign |
Het |
Cs |
G |
A |
10: 128,187,086 (GRCm39) |
G74S |
possibly damaging |
Het |
Cyb5r4 |
G |
T |
9: 86,929,533 (GRCm39) |
S229I |
probably damaging |
Het |
Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
Ect2l |
C |
T |
10: 18,018,810 (GRCm39) |
V529M |
probably damaging |
Het |
Edaradd |
C |
A |
13: 12,493,161 (GRCm39) |
R177L |
possibly damaging |
Het |
Esf1 |
T |
C |
2: 140,006,148 (GRCm39) |
D333G |
possibly damaging |
Het |
Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
Fbxl18 |
A |
G |
5: 142,871,558 (GRCm39) |
I559T |
probably damaging |
Het |
Fcrl2 |
A |
C |
3: 87,164,851 (GRCm39) |
V225G |
probably benign |
Het |
Ido1 |
C |
T |
8: 25,077,819 (GRCm39) |
V83M |
probably damaging |
Het |
Iffo1 |
T |
G |
6: 125,130,030 (GRCm39) |
C419G |
probably damaging |
Het |
Igfals |
A |
T |
17: 25,100,439 (GRCm39) |
Y510F |
probably benign |
Het |
Ipo9 |
A |
T |
1: 135,313,210 (GRCm39) |
Y1006* |
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,065,785 (GRCm39) |
S1737T |
probably benign |
Het |
Klhl32 |
C |
T |
4: 24,800,805 (GRCm39) |
|
probably null |
Het |
Klk1b11 |
T |
A |
7: 43,427,810 (GRCm39) |
C173S |
probably damaging |
Het |
Klk1b24 |
A |
T |
7: 43,840,889 (GRCm39) |
M106L |
probably benign |
Het |
Lamp1 |
G |
A |
8: 13,221,388 (GRCm39) |
|
probably null |
Het |
Mapk4 |
A |
T |
18: 74,103,365 (GRCm39) |
V48E |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,486,082 (GRCm39) |
D395E |
probably damaging |
Het |
Mdp1 |
A |
G |
14: 55,896,465 (GRCm39) |
F157S |
probably damaging |
Het |
Mettl21e |
A |
T |
1: 44,250,255 (GRCm39) |
F50L |
probably damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,077,153 (GRCm39) |
I35T |
probably benign |
Het |
Natd1 |
T |
C |
11: 60,796,892 (GRCm39) |
Y91C |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,633,476 (GRCm39) |
Y2294N |
probably damaging |
Het |
Nrcam |
A |
G |
12: 44,610,841 (GRCm39) |
T520A |
probably benign |
Het |
Nrf1 |
A |
G |
6: 30,117,061 (GRCm39) |
T324A |
probably benign |
Het |
Or10a2 |
G |
A |
7: 106,673,394 (GRCm39) |
A120T |
probably damaging |
Het |
Or4k51 |
T |
A |
2: 111,585,326 (GRCm39) |
I244N |
probably damaging |
Het |
Or52a5 |
A |
C |
7: 103,427,182 (GRCm39) |
D123E |
probably damaging |
Het |
Or5m11b |
A |
G |
2: 85,806,500 (GRCm39) |
I304M |
probably benign |
Het |
Pam |
C |
T |
1: 97,792,123 (GRCm39) |
V433I |
probably benign |
Het |
Pck1 |
T |
A |
2: 173,000,353 (GRCm39) |
Y595N |
probably damaging |
Het |
Per2 |
C |
T |
1: 91,373,223 (GRCm39) |
|
probably null |
Het |
Piezo2 |
G |
C |
18: 63,278,162 (GRCm39) |
F247L |
possibly damaging |
Het |
Pkdcc |
A |
G |
17: 83,523,337 (GRCm39) |
Y148C |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,475,876 (GRCm39) |
T320A |
probably benign |
Het |
Ppip5k1 |
G |
A |
2: 121,147,157 (GRCm39) |
R1155C |
probably benign |
Het |
Ppp1r15b |
C |
T |
1: 133,059,382 (GRCm39) |
|
probably benign |
Het |
Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
Ptprz1 |
G |
T |
6: 22,986,133 (GRCm39) |
C311F |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,235,038 (GRCm39) |
V44E |
probably damaging |
Het |
Rpl5 |
T |
A |
5: 108,051,514 (GRCm39) |
|
probably benign |
Het |
Rttn |
G |
A |
18: 89,066,556 (GRCm39) |
V1201I |
probably benign |
Het |
Sdk1 |
A |
G |
5: 141,921,853 (GRCm39) |
N283S |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,405,529 (GRCm39) |
N418K |
probably benign |
Het |
Shmt2 |
T |
C |
10: 127,353,668 (GRCm39) |
D499G |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,716,293 (GRCm39) |
L403S |
probably damaging |
Het |
Slc5a1 |
A |
G |
5: 33,303,955 (GRCm39) |
T257A |
probably benign |
Het |
Snrnp35 |
T |
C |
5: 124,628,535 (GRCm39) |
V116A |
probably benign |
Het |
Spag9 |
T |
A |
11: 93,981,538 (GRCm39) |
F593I |
probably damaging |
Het |
Tmem171 |
C |
A |
13: 98,828,574 (GRCm39) |
R192L |
probably benign |
Het |
Trappc3l |
T |
A |
10: 33,978,703 (GRCm39) |
L169Q |
unknown |
Het |
Ube2s |
T |
C |
7: 4,811,431 (GRCm39) |
E148G |
probably damaging |
Het |
Uspl1 |
T |
C |
5: 149,146,521 (GRCm39) |
F424S |
probably damaging |
Het |
Vmn1r2 |
T |
C |
4: 3,172,261 (GRCm39) |
V60A |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,829,575 (GRCm39) |
|
probably null |
Het |
Zfp735 |
C |
T |
11: 73,602,964 (GRCm39) |
S636L |
possibly damaging |
Het |
Zswim9 |
G |
A |
7: 12,995,094 (GRCm39) |
S354F |
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 |
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'- TGGGCTCCAAAACCAAATGC -3'
(R):5'- CCTTCCTGGACTATGTGATGG -3'
Sequencing Primer
(F):5'- CCAAATGCAGGAAATAGCTTGTCTC -3'
(R):5'- GGAGGCTGCCAGATCAACTTTAC -3'
|
Posted On |
2016-11-09 |