Incidental Mutation 'IGL01688:Cpne2'
ID |
104033 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cpne2
|
Ensembl Gene |
ENSMUSG00000034361 |
Gene Name |
copine II |
Synonyms |
3322401K10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.119)
|
Stock # |
IGL01688
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95259618-95297159 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95281381 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 196
(T196A)
|
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: T196A
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045755 Gene: ENSMUSG00000034361 AA Change: T196A
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: T196A
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000105163 Gene: ENSMUSG00000034361 AA Change: T196A
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 |
noncoding transcript
Transcript: ENSMUST00000136550
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212550
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
Rcor3 |
T |
A |
1: 191,807,900 (GRCm39) |
E20V |
probably damaging |
Het |
Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
probably benign |
Het |
|
Other mutations in Cpne2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-01-21 |