Incidental Mutation 'R4588:Cpne5'
| ID |
342636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne5
|
| Ensembl Gene |
ENSMUSG00000024008 |
| Gene Name |
copine V |
| Synonyms |
A830083G22Rik |
| MMRRC Submission |
042007-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4588 (G1)
|
| Quality Score |
120 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
29375495-29456764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29383687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 327
(I327V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024805]
|
| AlphaFold |
Q8JZW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024805
AA Change: I327V
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024805
Gene: ENSMUSG00000024008
AA Change: I327V
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
23 |
131 |
2.09e-9 |
SMART |
|
C2
|
161 |
283 |
1.88e-11 |
SMART |
|
low complexity region
|
290 |
297 |
N/A |
INTRINSIC |
|
VWA
|
326 |
519 |
1.52e-13 |
SMART |
|
low complexity region
|
564 |
588 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126993
|
| Meta Mutation Damage Score |
0.2218 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (51/52) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,833,701 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
T |
5: 8,997,328 (GRCm39) |
I936F |
probably benign |
Het |
| Adnp2 |
G |
T |
18: 80,171,863 (GRCm39) |
L849I |
probably benign |
Het |
| Atf7ip |
T |
C |
6: 136,576,692 (GRCm39) |
S1032P |
probably benign |
Het |
| Atr |
A |
C |
9: 95,747,720 (GRCm39) |
D334A |
probably benign |
Het |
| Atrip |
A |
T |
9: 108,889,347 (GRCm39) |
D20E |
probably damaging |
Het |
| Atxn7 |
T |
A |
14: 14,096,268 (GRCm38) |
C43* |
probably null |
Het |
| Cfap65 |
C |
A |
1: 74,943,215 (GRCm39) |
Q1603H |
possibly damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,070 (GRCm39) |
S41P |
possibly damaging |
Het |
| Cyp4x1 |
A |
T |
4: 114,965,994 (GRCm39) |
L444Q |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,405,248 (GRCm39) |
M2431I |
probably benign |
Het |
| Ddi1 |
T |
A |
9: 6,266,003 (GRCm39) |
H122L |
probably benign |
Het |
| Defa21 |
C |
T |
8: 21,515,664 (GRCm39) |
P21S |
probably damaging |
Het |
| Ect2 |
A |
G |
3: 27,201,149 (GRCm39) |
V77A |
probably damaging |
Het |
| Ermap |
C |
A |
4: 119,045,445 (GRCm39) |
|
probably benign |
Het |
| Fancm |
G |
A |
12: 65,165,215 (GRCm39) |
|
probably null |
Het |
| Gcnt3 |
T |
A |
9: 69,941,512 (GRCm39) |
D352V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,395,181 (GRCm39) |
M428T |
possibly damaging |
Het |
| Igtp |
T |
A |
11: 58,097,508 (GRCm39) |
N226K |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,142,694 (GRCm39) |
H1675L |
probably benign |
Het |
| Lipo4 |
G |
A |
19: 33,476,647 (GRCm39) |
P367L |
possibly damaging |
Het |
| Lzts3 |
T |
C |
2: 130,476,686 (GRCm39) |
*587W |
probably null |
Het |
| Mast3 |
T |
A |
8: 71,233,251 (GRCm39) |
K300* |
probably null |
Het |
| Mepce |
G |
A |
5: 137,783,534 (GRCm39) |
T264I |
possibly damaging |
Het |
| Mif4gd |
A |
T |
11: 115,500,372 (GRCm39) |
I62N |
probably damaging |
Het |
| Or14a260 |
C |
T |
7: 85,984,852 (GRCm39) |
V251I |
probably benign |
Het |
| Or7e175 |
T |
A |
9: 20,049,383 (GRCm39) |
*324K |
probably null |
Het |
| Palm3 |
A |
G |
8: 84,756,015 (GRCm39) |
K509R |
probably benign |
Het |
| Pde11a |
T |
C |
2: 75,859,647 (GRCm39) |
T821A |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,384,087 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,271,092 (GRCm39) |
T3154A |
probably benign |
Het |
| Ptprs |
A |
G |
17: 56,732,534 (GRCm39) |
Y438H |
probably damaging |
Het |
| Rdh8 |
T |
A |
9: 20,734,025 (GRCm39) |
D70E |
probably benign |
Het |
| Scn2a |
A |
T |
2: 65,544,111 (GRCm39) |
I831L |
possibly damaging |
Het |
| Selenoo |
A |
G |
15: 88,980,921 (GRCm39) |
H420R |
probably benign |
Het |
| Slc22a16 |
T |
C |
10: 40,446,677 (GRCm39) |
|
probably benign |
Het |
| Slc5a1 |
A |
G |
5: 33,302,632 (GRCm39) |
T208A |
probably benign |
Het |
| Sparc |
T |
C |
11: 55,296,062 (GRCm39) |
M121V |
probably benign |
Het |
| Sstr1 |
G |
T |
12: 58,260,417 (GRCm39) |
A347S |
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,879,402 (GRCm39) |
V693F |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,972,681 (GRCm39) |
V307A |
probably benign |
Het |
| Trmt1 |
A |
G |
8: 85,417,382 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,243,760 (GRCm39) |
S1255P |
probably benign |
Het |
| Ube2ql1 |
A |
C |
13: 69,887,276 (GRCm39) |
S62A |
unknown |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,809 (GRCm39) |
M804L |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,562,306 (GRCm39) |
E467G |
probably damaging |
Het |
|
| Other mutations in Cpne5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02626:Cpne5
|
APN |
17 |
29,379,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Cpne5
|
UTSW |
17 |
29,430,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Cpne5
|
UTSW |
17 |
29,430,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0462:Cpne5
|
UTSW |
17 |
29,395,163 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0699:Cpne5
|
UTSW |
17 |
29,428,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Cpne5
|
UTSW |
17 |
29,421,893 (GRCm39) |
splice site |
probably benign |
|
|
R1872:Cpne5
|
UTSW |
17 |
29,423,667 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2167:Cpne5
|
UTSW |
17 |
29,381,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Cpne5
|
UTSW |
17 |
29,378,082 (GRCm39) |
missense |
unknown |
|
|
R4037:Cpne5
|
UTSW |
17 |
29,378,087 (GRCm39) |
missense |
unknown |
|
|
R4478:Cpne5
|
UTSW |
17 |
29,428,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4853:Cpne5
|
UTSW |
17 |
29,380,172 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5630:Cpne5
|
UTSW |
17 |
29,445,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Cpne5
|
UTSW |
17 |
29,402,991 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7019:Cpne5
|
UTSW |
17 |
29,445,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Cpne5
|
UTSW |
17 |
29,378,051 (GRCm39) |
missense |
unknown |
|
|
R7472:Cpne5
|
UTSW |
17 |
29,423,714 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7596:Cpne5
|
UTSW |
17 |
29,445,191 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7649:Cpne5
|
UTSW |
17 |
29,445,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Cpne5
|
UTSW |
17 |
29,407,261 (GRCm39) |
splice site |
probably null |
|
|
R8406:Cpne5
|
UTSW |
17 |
29,428,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8444:Cpne5
|
UTSW |
17 |
29,407,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8795:Cpne5
|
UTSW |
17 |
29,423,662 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8821:Cpne5
|
UTSW |
17 |
29,430,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9049:Cpne5
|
UTSW |
17 |
29,379,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9072:Cpne5
|
UTSW |
17 |
29,430,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9091:Cpne5
|
UTSW |
17 |
29,444,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9270:Cpne5
|
UTSW |
17 |
29,444,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9334:Cpne5
|
UTSW |
17 |
29,423,673 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9600:Cpne5
|
UTSW |
17 |
29,380,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cpne5
|
UTSW |
17 |
29,378,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTTAGCTCTGCCTTCTCTGG -3'
(R):5'- AATGCACCCCTCCGATGC -3'
Sequencing Primer
(F):5'- CTAGGTTGTCACCCACATTGAAGTG -3'
(R):5'- CTCCGATGCCCGCAGAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation