Incidental Mutation 'R6632:Cpne2'
| ID |
525223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne2
|
| Ensembl Gene |
ENSMUSG00000034361 |
| Gene Name |
copine II |
| Synonyms |
3322401K10Rik |
| MMRRC Submission |
044754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R6632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95259618-95297159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95281583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 206
(V206A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048653]
[ENSMUST00000109537]
|
| AlphaFold |
P59108 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048653
AA Change: V206A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: V206A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
1.82e-9 |
SMART |
|
C2
|
155 |
261 |
8.25e-8 |
SMART |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
VWA
|
305 |
507 |
7.26e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109537
AA Change: V206A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: V206A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
24 |
130 |
1.82e-9 |
SMART |
|
C2
|
155 |
261 |
8.25e-8 |
SMART |
|
low complexity region
|
269 |
278 |
N/A |
INTRINSIC |
|
VWA
|
305 |
506 |
8.94e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212550
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,186 (GRCm39) |
S758P |
possibly damaging |
Het |
| Abca3 |
C |
G |
17: 24,603,444 (GRCm39) |
D545E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,063,842 (GRCm39) |
|
probably null |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arpp21 |
G |
A |
9: 111,956,424 (GRCm39) |
Q518* |
probably null |
Het |
| Atp9b |
G |
A |
18: 80,851,864 (GRCm39) |
R410W |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,627,222 (GRCm39) |
*265W |
probably null |
Het |
| Ccdc96 |
G |
A |
5: 36,642,533 (GRCm39) |
E180K |
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,691,088 (GRCm39) |
K1231E |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 96,499,895 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,411,085 (GRCm39) |
Y1647H |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,156,088 (GRCm39) |
T590A |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,504,270 (GRCm39) |
I1068F |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,364,849 (GRCm39) |
K639N |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,105,871 (GRCm39) |
|
probably null |
Het |
| Gm35315 |
A |
C |
5: 110,227,129 (GRCm39) |
Y103* |
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,312,169 (GRCm39) |
K578R |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,335,734 (GRCm39) |
S906P |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,416,545 (GRCm39) |
A314S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,615,454 (GRCm39) |
W3650R |
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,833,942 (GRCm39) |
H161Y |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,035,567 (GRCm39) |
M368K |
probably damaging |
Het |
| Msh2 |
A |
C |
17: 88,020,094 (GRCm39) |
K567Q |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,534,776 (GRCm39) |
E429G |
possibly damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,159,924 (GRCm39) |
A17T |
probably damaging |
Het |
| Or2aj6 |
T |
C |
16: 19,443,773 (GRCm39) |
T26A |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,552 (GRCm39) |
Y157F |
probably benign |
Het |
| P4ha2 |
G |
T |
11: 54,008,474 (GRCm39) |
R227L |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 108,838,630 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
G |
4: 100,299,303 (GRCm39) |
N892S |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,313,846 (GRCm39) |
D1957E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,604,476 (GRCm39) |
Y713* |
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,271,438 (GRCm39) |
F70I |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,231,460 (GRCm39) |
Y1284C |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,655,809 (GRCm39) |
M1030K |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,165,667 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Cpne2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01688:Cpne2
|
APN |
8 |
95,281,381 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02702:Cpne2
|
APN |
8 |
95,296,651 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03277:Cpne2
|
APN |
8 |
95,275,000 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0018:Cpne2
|
UTSW |
8 |
95,282,681 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0018:Cpne2
|
UTSW |
8 |
95,282,681 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0126:Cpne2
|
UTSW |
8 |
95,281,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Cpne2
|
UTSW |
8 |
95,281,553 (GRCm39) |
unclassified |
probably benign |
|
|
R0167:Cpne2
|
UTSW |
8 |
95,295,207 (GRCm39) |
unclassified |
probably benign |
|
|
R0661:Cpne2
|
UTSW |
8 |
95,282,667 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0671:Cpne2
|
UTSW |
8 |
95,274,970 (GRCm39) |
start gained |
probably benign |
|
|
R4691:Cpne2
|
UTSW |
8 |
95,284,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Cpne2
|
UTSW |
8 |
95,290,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4886:Cpne2
|
UTSW |
8 |
95,290,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6699:Cpne2
|
UTSW |
8 |
95,290,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6968:Cpne2
|
UTSW |
8 |
95,275,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Cpne2
|
UTSW |
8 |
95,282,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Cpne2
|
UTSW |
8 |
95,275,094 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7571:Cpne2
|
UTSW |
8 |
95,278,408 (GRCm39) |
missense |
probably benign |
|
|
R7583:Cpne2
|
UTSW |
8 |
95,282,209 (GRCm39) |
missense |
probably benign |
|
|
R7612:Cpne2
|
UTSW |
8 |
95,284,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7745:Cpne2
|
UTSW |
8 |
95,295,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7845:Cpne2
|
UTSW |
8 |
95,277,832 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8278:Cpne2
|
UTSW |
8 |
95,281,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8319:Cpne2
|
UTSW |
8 |
95,280,040 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8954:Cpne2
|
UTSW |
8 |
95,284,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9082:Cpne2
|
UTSW |
8 |
95,295,237 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9275:Cpne2
|
UTSW |
8 |
95,281,643 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9588:Cpne2
|
UTSW |
8 |
95,286,781 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9734:Cpne2
|
UTSW |
8 |
95,295,228 (GRCm39) |
missense |
probably benign |
0.34 |
|
X0025:Cpne2
|
UTSW |
8 |
95,284,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATGGGTTCTCATGACTCTGG -3'
(R):5'- AGTTCTAGGCCTCGAATCTAAGG -3'
Sequencing Primer
(F):5'- GACTCTGGTCAAACTGGCC -3'
(R):5'- TCGAATCTAAGGTGCCTGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation