Incidental Mutation 'R1747:Cpne8'
ID |
194073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne8
|
Ensembl Gene |
ENSMUSG00000052560 |
Gene Name |
copine VIII |
Synonyms |
1500031E20Rik, 1200003E11Rik |
MMRRC Submission |
039779-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R1747 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90469118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 158
(T158I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064391]
[ENSMUST00000088649]
|
AlphaFold |
Q9DC53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064391
AA Change: T158I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000067774 Gene: ENSMUSG00000052560 AA Change: T158I
Domain | Start | End | E-Value | Type |
C2
|
37 |
145 |
9.76e-10 |
SMART |
C2
|
170 |
277 |
1.06e-10 |
SMART |
low complexity region
|
284 |
291 |
N/A |
INTRINSIC |
VWA
|
320 |
518 |
1.34e-9 |
SMART |
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000088649
|
SMART Domains |
Protein: ENSMUSP00000086024 Gene: ENSMUSG00000052560
Domain | Start | End | E-Value | Type |
C2
|
37 |
139 |
8.78e-3 |
SMART |
|
Meta Mutation Damage Score |
0.0992 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.7%
|
Validation Efficiency |
97% (65/67) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the copine family of highly conserved, calcium-dependent phospholipid binding proteins. The encoded protein has two characteristic C2 domains and a VWFA domain and may play a role in membrane trafficking. A related pseudogene is found on chromosome 8. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029H14Rik |
C |
T |
8: 13,608,814 (GRCm39) |
S117N |
probably damaging |
Het |
Acat3 |
A |
G |
17: 13,143,695 (GRCm39) |
I349T |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,230,981 (GRCm39) |
N552S |
probably benign |
Het |
Ak3 |
G |
T |
19: 29,000,261 (GRCm39) |
P217T |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,378,751 (GRCm39) |
D1000V |
probably benign |
Het |
Ap1m2 |
A |
G |
9: 21,216,982 (GRCm39) |
M118T |
probably damaging |
Het |
Arhgap28 |
C |
A |
17: 68,208,304 (GRCm39) |
A105S |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,073,332 (GRCm39) |
E1368G |
probably damaging |
Het |
Armc7 |
G |
A |
11: 115,379,583 (GRCm39) |
V94I |
probably benign |
Het |
Asxl1 |
C |
A |
2: 153,235,374 (GRCm39) |
T223N |
possibly damaging |
Het |
Btbd8 |
T |
C |
5: 107,599,865 (GRCm39) |
S119P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,597,907 (GRCm39) |
K1078E |
probably damaging |
Het |
Csn1s2b |
T |
C |
5: 87,964,529 (GRCm39) |
|
probably benign |
Het |
Cyp3a59 |
A |
G |
5: 146,041,568 (GRCm39) |
I371V |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,725,675 (GRCm39) |
F710L |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,310,773 (GRCm39) |
D126G |
probably damaging |
Het |
Dnm3 |
G |
A |
1: 162,141,153 (GRCm39) |
R369C |
probably damaging |
Het |
Dst |
A |
C |
1: 34,199,790 (GRCm39) |
Q86P |
probably damaging |
Het |
Ern2 |
C |
A |
7: 121,773,042 (GRCm39) |
|
probably null |
Het |
Ern2 |
T |
A |
7: 121,773,043 (GRCm39) |
|
probably null |
Het |
Exoc6 |
T |
A |
19: 37,628,217 (GRCm39) |
|
probably null |
Het |
Glg1 |
G |
A |
8: 111,924,305 (GRCm39) |
R228C |
probably damaging |
Het |
Gm4736 |
G |
A |
6: 132,092,633 (GRCm39) |
|
noncoding transcript |
Het |
Hmcn2 |
G |
C |
2: 31,347,997 (GRCm39) |
G4881A |
probably benign |
Het |
Htr2a |
T |
G |
14: 74,943,593 (GRCm39) |
F391C |
probably damaging |
Het |
Htr5b |
A |
T |
1: 121,455,647 (GRCm39) |
V91E |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,454,922 (GRCm39) |
H101L |
probably benign |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Klhl6 |
T |
A |
16: 19,765,778 (GRCm39) |
H608L |
probably benign |
Het |
Lrp4 |
T |
C |
2: 91,322,966 (GRCm39) |
V1150A |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,932,007 (GRCm39) |
F3545S |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,941,489 (GRCm39) |
D822G |
possibly damaging |
Het |
Nbas |
G |
A |
12: 13,385,899 (GRCm39) |
S721N |
probably benign |
Het |
Nog |
T |
A |
11: 89,192,408 (GRCm39) |
M147L |
probably benign |
Het |
Npr1 |
C |
T |
3: 90,365,976 (GRCm39) |
C605Y |
possibly damaging |
Het |
Or7e173 |
A |
C |
9: 19,938,613 (GRCm39) |
V207G |
probably benign |
Het |
Or8k21 |
G |
A |
2: 86,145,211 (GRCm39) |
L140F |
probably benign |
Het |
Pgs1 |
A |
G |
11: 117,892,457 (GRCm39) |
S10G |
probably benign |
Het |
Pla2g4c |
T |
C |
7: 13,071,655 (GRCm39) |
|
probably benign |
Het |
Prdm14 |
C |
T |
1: 13,192,627 (GRCm39) |
V371I |
possibly damaging |
Het |
Prom1 |
C |
T |
5: 44,164,373 (GRCm39) |
V703I |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,230,688 (GRCm39) |
T260A |
possibly damaging |
Het |
Scnn1g |
A |
T |
7: 121,359,686 (GRCm39) |
I390F |
probably damaging |
Het |
Scrt2 |
C |
T |
2: 151,935,638 (GRCm39) |
H264Y |
probably damaging |
Het |
Sel1l3 |
C |
T |
5: 53,302,887 (GRCm39) |
E661K |
possibly damaging |
Het |
Skic2 |
G |
T |
17: 35,066,782 (GRCm39) |
P162H |
probably benign |
Het |
Slc10a5 |
G |
T |
3: 10,400,451 (GRCm39) |
Q70K |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,976,129 (GRCm39) |
V484A |
possibly damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Stag1 |
T |
A |
9: 100,770,353 (GRCm39) |
S630T |
probably benign |
Het |
Thyn1 |
A |
C |
9: 26,916,509 (GRCm39) |
Q98P |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,614,443 (GRCm39) |
R203G |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,708,860 (GRCm39) |
|
probably benign |
Het |
Vmn1r236 |
C |
T |
17: 21,507,179 (GRCm39) |
S99L |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,781,605 (GRCm39) |
H380L |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,507,375 (GRCm39) |
C646S |
probably damaging |
Het |
Wnt10b |
A |
G |
15: 98,672,214 (GRCm39) |
S168P |
probably benign |
Het |
Zc3h7a |
A |
G |
16: 10,963,117 (GRCm39) |
M748T |
possibly damaging |
Het |
Zfp804b |
C |
G |
5: 6,820,217 (GRCm39) |
E913Q |
probably benign |
Het |
Zfp974 |
G |
T |
7: 27,610,506 (GRCm39) |
F406L |
possibly damaging |
Het |
Zic4 |
G |
A |
9: 91,266,199 (GRCm39) |
C274Y |
probably damaging |
Het |
|
Other mutations in Cpne8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Cpne8
|
APN |
15 |
90,381,261 (GRCm39) |
splice site |
probably benign |
|
IGL00545:Cpne8
|
APN |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
IGL00951:Cpne8
|
APN |
15 |
90,486,096 (GRCm39) |
intron |
probably benign |
|
IGL01069:Cpne8
|
APN |
15 |
90,499,313 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01294:Cpne8
|
APN |
15 |
90,385,648 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01720:Cpne8
|
APN |
15 |
90,385,703 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01843:Cpne8
|
APN |
15 |
90,453,700 (GRCm39) |
missense |
probably benign |
0.17 |
PIT4431001:Cpne8
|
UTSW |
15 |
90,436,178 (GRCm39) |
missense |
probably damaging |
0.98 |
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
R0016:Cpne8
|
UTSW |
15 |
90,385,608 (GRCm39) |
splice site |
probably benign |
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
R0032:Cpne8
|
UTSW |
15 |
90,453,771 (GRCm39) |
splice site |
probably benign |
|
R0096:Cpne8
|
UTSW |
15 |
90,384,118 (GRCm39) |
missense |
probably benign |
0.24 |
R0545:Cpne8
|
UTSW |
15 |
90,381,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R0637:Cpne8
|
UTSW |
15 |
90,532,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R0834:Cpne8
|
UTSW |
15 |
90,424,462 (GRCm39) |
missense |
probably benign |
|
R0894:Cpne8
|
UTSW |
15 |
90,533,474 (GRCm39) |
missense |
probably damaging |
0.97 |
R1568:Cpne8
|
UTSW |
15 |
90,503,845 (GRCm39) |
missense |
probably damaging |
0.98 |
R1629:Cpne8
|
UTSW |
15 |
90,456,175 (GRCm39) |
missense |
probably benign |
0.03 |
R1761:Cpne8
|
UTSW |
15 |
90,532,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R1884:Cpne8
|
UTSW |
15 |
90,532,831 (GRCm39) |
splice site |
probably benign |
|
R2357:Cpne8
|
UTSW |
15 |
90,503,877 (GRCm39) |
missense |
probably damaging |
0.99 |
R2434:Cpne8
|
UTSW |
15 |
90,393,714 (GRCm39) |
missense |
probably benign |
0.07 |
R4043:Cpne8
|
UTSW |
15 |
90,456,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R4875:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
R4969:Cpne8
|
UTSW |
15 |
90,503,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Cpne8
|
UTSW |
15 |
90,563,438 (GRCm39) |
missense |
probably benign |
0.05 |
R5086:Cpne8
|
UTSW |
15 |
90,532,771 (GRCm39) |
splice site |
probably benign |
|
R5154:Cpne8
|
UTSW |
15 |
90,384,121 (GRCm39) |
missense |
probably benign |
0.10 |
R5199:Cpne8
|
UTSW |
15 |
90,532,812 (GRCm39) |
missense |
probably benign |
0.10 |
R5424:Cpne8
|
UTSW |
15 |
90,400,260 (GRCm39) |
missense |
probably benign |
0.00 |
R5528:Cpne8
|
UTSW |
15 |
90,503,893 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5946:Cpne8
|
UTSW |
15 |
90,373,191 (GRCm39) |
makesense |
probably null |
|
R6158:Cpne8
|
UTSW |
15 |
90,456,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R6977:Cpne8
|
UTSW |
15 |
90,381,294 (GRCm39) |
missense |
probably benign |
0.10 |
R7486:Cpne8
|
UTSW |
15 |
90,400,109 (GRCm39) |
critical splice donor site |
probably null |
|
R7522:Cpne8
|
UTSW |
15 |
90,486,022 (GRCm39) |
missense |
probably benign |
0.09 |
R7684:Cpne8
|
UTSW |
15 |
90,533,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Cpne8
|
UTSW |
15 |
90,385,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7799:Cpne8
|
UTSW |
15 |
90,424,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8162:Cpne8
|
UTSW |
15 |
90,503,881 (GRCm39) |
missense |
probably benign |
|
R8353:Cpne8
|
UTSW |
15 |
90,425,496 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8405:Cpne8
|
UTSW |
15 |
90,456,235 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8842:Cpne8
|
UTSW |
15 |
90,456,218 (GRCm39) |
missense |
probably benign |
|
R8856:Cpne8
|
UTSW |
15 |
90,486,044 (GRCm39) |
missense |
probably benign |
0.06 |
R8922:Cpne8
|
UTSW |
15 |
90,456,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R9058:Cpne8
|
UTSW |
15 |
90,381,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R9550:Cpne8
|
UTSW |
15 |
90,453,760 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
|
Posted On |
2014-05-23 |