Incidental Mutation 'IGL03330:Cpne3'
| ID |
416844 |
| 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 # |
IGL03330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
19519254-19570108 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19553774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 86
(T86S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029885
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029885]
|
| AlphaFold |
Q8BT60 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029885
AA Change: T86S
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029885
Gene: ENSMUSG00000028228
AA Change: T86S
| 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: ENSMUST00000108254
|
| 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 |
|---|
| 4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
| Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
| Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
| Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
| Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
| Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
| Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
| Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
| Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
| Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
| Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
| Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
| Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Sgcb |
T |
A |
5: 73,797,212 (GRCm39) |
S183C |
probably damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
| Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
| Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
| Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
| Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
Het |
|
| Other mutations in Cpne3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01131:Cpne3
|
APN |
4 |
19,543,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation