Incidental Mutation 'R0016:Cpne8'
ID |
32723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne8
|
Ensembl Gene |
ENSMUSG00000052560 |
Gene Name |
copine VIII |
Synonyms |
1500031E20Rik, 1200003E11Rik |
MMRRC Submission |
038311-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.130)
|
Stock # |
R0016 (G1)
|
Quality Score |
204 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 90385608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086024
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064391]
[ENSMUST00000088649]
|
AlphaFold |
Q9DC53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000064391
|
SMART Domains |
Protein: ENSMUSP00000067774 Gene: ENSMUSG00000052560
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 |
probably benign
Transcript: ENSMUST00000088649
|
SMART Domains |
Protein: ENSMUSP00000086024 Gene: ENSMUSG00000052560
Domain | Start | End | E-Value | Type |
C2
|
37 |
139 |
8.78e-3 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
Cdh16 |
T |
A |
8: 105,344,264 (GRCm39) |
T92S |
probably benign |
Het |
Chrd |
G |
C |
16: 20,553,058 (GRCm39) |
V162L |
possibly damaging |
Het |
Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
Cyp4a10 |
A |
T |
4: 115,378,304 (GRCm39) |
Q130L |
probably damaging |
Het |
Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
Dgkd |
T |
C |
1: 87,845,674 (GRCm39) |
S294P |
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,882,290 (GRCm39) |
I621V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
Fa2h |
T |
C |
8: 112,120,146 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
Gm17067 |
A |
T |
7: 42,358,046 (GRCm39) |
I152K |
probably benign |
Het |
Gvin3 |
G |
A |
7: 106,202,453 (GRCm39) |
L264F |
probably benign |
Het |
Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,912 (GRCm39) |
T305A |
probably benign |
Het |
Krtap22-2 |
A |
G |
16: 88,807,407 (GRCm39) |
|
probably benign |
Het |
Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
Mob3b |
A |
G |
4: 35,083,947 (GRCm39) |
F81L |
probably benign |
Het |
Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
Myef2l |
A |
T |
3: 10,154,379 (GRCm39) |
M383L |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
Naf1 |
T |
C |
8: 67,341,707 (GRCm39) |
|
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
Paxbp1 |
A |
T |
16: 90,832,924 (GRCm39) |
|
probably benign |
Het |
Phf20 |
A |
T |
2: 156,109,114 (GRCm39) |
K154* |
probably null |
Het |
Pip4p1 |
C |
T |
14: 51,166,351 (GRCm39) |
R213Q |
probably damaging |
Het |
Plekhj1 |
T |
C |
10: 80,632,250 (GRCm39) |
D74G |
possibly damaging |
Het |
Plpp4 |
T |
C |
7: 128,925,148 (GRCm39) |
C128R |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,689 (GRCm39) |
|
probably null |
Het |
Sh3rf1 |
T |
A |
8: 61,827,172 (GRCm39) |
M642K |
probably benign |
Het |
Slc7a1 |
A |
G |
5: 148,271,393 (GRCm39) |
V522A |
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
Spry2 |
C |
T |
14: 106,130,731 (GRCm39) |
V152M |
probably benign |
Het |
Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
Stag3 |
A |
G |
5: 138,289,643 (GRCm39) |
H271R |
possibly damaging |
Het |
Stat4 |
T |
C |
1: 52,107,939 (GRCm39) |
V136A |
probably benign |
Het |
Stc2 |
A |
T |
11: 31,310,177 (GRCm39) |
D286E |
probably benign |
Het |
Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
Ticrr |
C |
T |
7: 79,343,540 (GRCm39) |
P1135L |
probably benign |
Het |
Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
Vmn1r78 |
A |
C |
7: 11,887,279 (GRCm39) |
S297R |
probably benign |
Het |
Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,676,810 (GRCm39) |
M2620T |
probably benign |
Het |
Zkscan2 |
C |
A |
7: 123,099,219 (GRCm39) |
|
probably benign |
Het |
Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
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 |
|
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 |
R1747:Cpne8
|
UTSW |
15 |
90,469,118 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
PCR Primer
(F):5'- TGTCTAGCGTCATTTTCACAGAGCC -3'
(R):5'- ACCTGGAGGTCCTCATGTTTCACG -3'
Sequencing Primer
(F):5'- GTACAAACCAGGCTGTTGC -3'
(R):5'- ACGTGCTGTTCTTACCTTCCTG -3'
|
Posted On |
2013-05-09 |