Incidental Mutation 'IGL01131:Cpne3'
| ID |
50958 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpne3
|
| Ensembl Gene |
ENSMUSG00000028228 |
| Gene Name |
copine III |
| Synonyms |
5430428M23Rik, CPN3, PRO1071, 5730450C07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
19519254-19570108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19543318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 160
(D160G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029885]
|
| AlphaFold |
Q8BT60 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029885
AA Change: D160G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: D160G
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
7 |
114 |
1.06e-10 |
SMART |
|
C2
|
139 |
245 |
9.53e-13 |
SMART |
|
low complexity region
|
253 |
262 |
N/A |
INTRINSIC |
|
VWA
|
289 |
495 |
7.54e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
| Wdfy1 |
C |
T |
1: 79,691,589 (GRCm39) |
V273I |
probably benign |
Het |
|
| Other mutations in Cpne3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Cpne3
|
APN |
4 |
19,535,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01467:Cpne3
|
APN |
4 |
19,553,737 (GRCm39) |
missense |
probably benign |
|
|
IGL02043:Cpne3
|
APN |
4 |
19,543,340 (GRCm39) |
splice site |
probably null |
|
|
IGL02992:Cpne3
|
APN |
4 |
19,532,486 (GRCm39) |
missense |
probably benign |
|
|
IGL03330:Cpne3
|
APN |
4 |
19,553,774 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
LCD18:Cpne3
|
UTSW |
4 |
19,563,382 (GRCm39) |
intron |
probably benign |
|
|
R0507:Cpne3
|
UTSW |
4 |
19,532,544 (GRCm39) |
splice site |
probably benign |
|
|
R0652:Cpne3
|
UTSW |
4 |
19,532,486 (GRCm39) |
missense |
probably benign |
|
|
R1499:Cpne3
|
UTSW |
4 |
19,526,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Cpne3
|
UTSW |
4 |
19,535,266 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2007:Cpne3
|
UTSW |
4 |
19,553,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Cpne3
|
UTSW |
4 |
19,536,562 (GRCm39) |
missense |
probably benign |
|
|
R2507:Cpne3
|
UTSW |
4 |
19,553,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Cpne3
|
UTSW |
4 |
19,523,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4880:Cpne3
|
UTSW |
4 |
19,540,827 (GRCm39) |
missense |
probably benign |
|
|
R5219:Cpne3
|
UTSW |
4 |
19,526,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5518:Cpne3
|
UTSW |
4 |
19,553,779 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5883:Cpne3
|
UTSW |
4 |
19,552,314 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6850:Cpne3
|
UTSW |
4 |
19,535,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6979:Cpne3
|
UTSW |
4 |
19,533,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7395:Cpne3
|
UTSW |
4 |
19,528,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7948:Cpne3
|
UTSW |
4 |
19,528,186 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8002:Cpne3
|
UTSW |
4 |
19,528,232 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8056:Cpne3
|
UTSW |
4 |
19,532,426 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8099:Cpne3
|
UTSW |
4 |
19,525,169 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8431:Cpne3
|
UTSW |
4 |
19,526,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8432:Cpne3
|
UTSW |
4 |
19,535,227 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9029:Cpne3
|
UTSW |
4 |
19,535,292 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9039:Cpne3
|
UTSW |
4 |
19,540,770 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9421:Cpne3
|
UTSW |
4 |
19,536,561 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9425:Cpne3
|
UTSW |
4 |
19,525,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Cpne3
|
UTSW |
4 |
19,555,477 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-06-21 |
Incidental Mutation