Incidental Mutation 'R4043:Cpne8'
| ID |
313957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne8
|
| Ensembl Gene |
ENSMUSG00000052560 |
| Gene Name |
copine VIII |
| Synonyms |
1500031E20Rik, 1200003E11Rik |
| MMRRC Submission |
041615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R4043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90456204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 186
(D186E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064391]
[ENSMUST00000088649]
|
| AlphaFold |
Q9DC53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064391
AA Change: D186E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: D186E
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
| Validation Efficiency |
97% (64/66) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
| AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,941 (GRCm39) |
C361Y |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
| Cdca2 |
A |
T |
14: 67,941,455 (GRCm39) |
M249K |
probably benign |
Het |
| Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
| Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
| Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
| Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
| Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
| Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
| Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
| Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
| Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
| Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
| Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
| Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
| Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
| Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
| Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
| Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,345,396 (GRCm39) |
Y259* |
probably null |
Het |
| Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
| Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
| Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
| Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
| Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,870,952 (GRCm39) |
E276G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
| Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,195,765 (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 |
|
|
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 |
|
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'- GGTTTGAAATAGAAAATCGCACCC -3'
(R):5'- ATTCCTTCAATAAGTAATGGCCTCTCC -3'
Sequencing Primer
(F):5'- CGCACCCTTCTTTAAAGTATCAAG -3'
(R):5'- ATAAGTAATGGCCTCTCCTCTACAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation