Incidental Mutation 'R9734:Cpne2'
| ID |
731611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne2
|
| Ensembl Gene |
ENSMUSG00000034361 |
| Gene Name |
copine II |
| Synonyms |
3322401K10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R9734 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95259618-95297159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95295228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 438
(I438V)
|
| 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: I438V
PolyPhen 2
Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: I438V
| 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: I437V
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: I437V
| 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: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
T |
A |
4: 152,345,474 (GRCm39) |
V348E |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,763,199 (GRCm39) |
L1270P |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,305,929 (GRCm39) |
T1018M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Bod1l |
A |
T |
5: 41,962,573 (GRCm39) |
D2721E |
possibly damaging |
Het |
| Bri3bp |
G |
T |
5: 125,518,736 (GRCm39) |
R4L |
unknown |
Het |
| Cnbd2 |
T |
A |
2: 156,180,540 (GRCm39) |
N241K |
possibly damaging |
Het |
| Crybg2 |
A |
G |
4: 133,801,962 (GRCm39) |
T732A |
probably benign |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dbt |
T |
C |
3: 116,339,704 (GRCm39) |
V364A |
probably benign |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fsip1 |
T |
A |
2: 118,070,916 (GRCm39) |
Q258L |
probably benign |
Het |
| Gabrg3 |
A |
G |
7: 56,634,908 (GRCm39) |
Y92H |
probably damaging |
Het |
| Grid1 |
C |
A |
14: 35,302,742 (GRCm39) |
D1002E |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,726,605 (GRCm39) |
C565* |
probably null |
Het |
| Iqce |
G |
T |
5: 140,678,564 (GRCm39) |
R127S |
probably damaging |
Het |
| Lama3 |
A |
T |
18: 12,682,320 (GRCm39) |
E1095D |
possibly damaging |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Mmp25 |
C |
T |
17: 23,850,834 (GRCm39) |
V367M |
possibly damaging |
Het |
| Mucl3 |
T |
A |
17: 35,949,233 (GRCm39) |
D122V |
probably benign |
Het |
| Or10d4c |
T |
C |
9: 39,558,202 (GRCm39) |
F60S |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,584,239 (GRCm39) |
I167N |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,057,737 (GRCm39) |
M115V |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 88,996,496 (GRCm39) |
S696T |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,490,175 (GRCm39) |
F225V |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,064,560 (GRCm39) |
H210R |
possibly damaging |
Het |
| Vil1 |
T |
C |
1: 74,454,309 (GRCm39) |
I24T |
possibly damaging |
Het |
| Vmn1r218 |
T |
A |
13: 23,321,034 (GRCm39) |
L127H |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,492 (GRCm39) |
V798A |
probably damaging |
Het |
| Vmn2r68 |
T |
A |
7: 84,882,757 (GRCm39) |
T332S |
possibly damaging |
Het |
| Zfp366 |
A |
G |
13: 99,365,352 (GRCm39) |
Y171C |
probably damaging |
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 |
|
R6632:Cpne2
|
UTSW |
8 |
95,281,583 (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 |
|
X0025:Cpne2
|
UTSW |
8 |
95,284,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTGTTCCTGTGCAAGCC -3'
(R):5'- GCACGAACTGCACGATATCTC -3'
Sequencing Primer
(F):5'- CTCAGCAGATTAAGTCTTAGTGGCC -3'
(R):5'- ATATCTCGGGCCGCCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation