Incidental Mutation 'IGL03277:Cpne2'
ID |
415466 |
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 # |
IGL03277
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95259618-95297159 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95275000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 3
(Y3H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048653]
[ENSMUST00000109537]
|
AlphaFold |
P59108 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048653
AA Change: Y3H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000045755 Gene: ENSMUSG00000034361 AA Change: Y3H
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: Y3H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000105163 Gene: ENSMUSG00000034361 AA Change: Y3H
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 |
noncoding transcript
Transcript: ENSMUST00000156894
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
Atosa |
G |
A |
9: 74,916,514 (GRCm39) |
R371Q |
probably damaging |
Het |
B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
Eif3d |
A |
G |
15: 77,843,849 (GRCm39) |
M499T |
possibly damaging |
Het |
Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,148,940 (GRCm39) |
S101P |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,195,372 (GRCm39) |
C449R |
possibly damaging |
Het |
Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
C |
5: 37,786,320 (GRCm39) |
M48R |
probably damaging |
Het |
Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
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 |
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 |
2016-08-02 |