Incidental Mutation 'R0661:Cpne2'
| ID |
61843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne2
|
| Ensembl Gene |
ENSMUSG00000034361 |
| Gene Name |
copine II |
| Synonyms |
3322401K10Rik |
| MMRRC Submission |
038846-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R0661 (G1)
|
| Quality Score |
98 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95259618-95297159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95282667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 283
(I283T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045755
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048653]
[ENSMUST00000109537]
|
| AlphaFold |
P59108 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048653
AA Change: I283T
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045755
Gene: ENSMUSG00000034361
AA Change: I283T
| 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 |
possibly damaging
Transcript: ENSMUST00000109537
AA Change: I283T
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105163
Gene: ENSMUSG00000034361
AA Change: I283T
| 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
AA Change: I54T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1b |
T |
A |
3: 20,370,163 (GRCm39) |
T148S |
possibly damaging |
Het |
| Anks3 |
A |
G |
16: 4,766,198 (GRCm39) |
F124L |
probably damaging |
Het |
| Ar |
T |
A |
X: 97,194,171 (GRCm39) |
Y262N |
probably damaging |
Het |
| Asxl1 |
T |
A |
2: 153,242,644 (GRCm39) |
S1065T |
possibly damaging |
Het |
| Brip1 |
A |
T |
11: 86,001,189 (GRCm39) |
I749N |
possibly damaging |
Het |
| C1ra |
T |
A |
6: 124,499,336 (GRCm39) |
H507Q |
probably benign |
Het |
| Cdk9 |
G |
A |
2: 32,599,832 (GRCm39) |
T135I |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,840,215 (GRCm39) |
T1088A |
unknown |
Het |
| Dcaf17 |
T |
C |
2: 70,918,779 (GRCm39) |
L451P |
probably damaging |
Het |
| Dhx57 |
C |
T |
17: 80,576,293 (GRCm39) |
C599Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,057 (GRCm39) |
N379Y |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,816,513 (GRCm39) |
D4082G |
possibly damaging |
Het |
| Grin2a |
G |
T |
16: 9,810,336 (GRCm39) |
P21Q |
probably damaging |
Het |
| Heyl |
G |
T |
4: 123,139,824 (GRCm39) |
V128F |
probably damaging |
Het |
| Hoxd12 |
A |
G |
2: 74,506,236 (GRCm39) |
E216G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Invs |
G |
A |
4: 48,421,861 (GRCm39) |
R831H |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,671,219 (GRCm39) |
V2000A |
probably damaging |
Het |
| Msh3 |
T |
C |
13: 92,481,604 (GRCm39) |
N303D |
possibly damaging |
Het |
| Or11g27 |
A |
G |
14: 50,771,552 (GRCm39) |
T228A |
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,068 (GRCm39) |
L46P |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Pcdh18 |
A |
C |
3: 49,707,767 (GRCm39) |
S902R |
possibly damaging |
Het |
| Prdm15 |
A |
T |
16: 97,630,882 (GRCm39) |
V190E |
probably benign |
Het |
| Ranbp2 |
T |
G |
10: 58,314,555 (GRCm39) |
S1758R |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,863,774 (GRCm39) |
V738A |
probably benign |
Het |
| Rtl5 |
T |
C |
X: 101,114,056 (GRCm39) |
H138R |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
G |
13: 77,231,715 (GRCm39) |
W555R |
probably benign |
Het |
| Spx |
A |
G |
6: 142,359,565 (GRCm39) |
S5G |
possibly damaging |
Het |
| Tcp1 |
T |
C |
17: 13,142,200 (GRCm39) |
V398A |
probably benign |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
T |
17: 34,678,887 (GRCm39) |
I217F |
possibly damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,432,270 (GRCm39) |
M1K |
probably null |
Het |
| Usf1 |
G |
A |
1: 171,245,067 (GRCm39) |
R196Q |
probably damaging |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,081,054 (GRCm39) |
M442K |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp740 |
A |
G |
15: 102,121,094 (GRCm39) |
T136A |
possibly 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 |
|
|
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 |
|
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'- AACCCAGGATGTTGGACCAAGCAG -3'
(R):5'- TCTACAGTGTAAGCCTCCACGGAAG -3'
Sequencing Primer
(F):5'- gcactcaatcacacctctcc -3'
(R):5'- CCTCCACGGAAGAGGGAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation