Incidental Mutation 'R0545:Cpne8'
| ID |
44786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne8
|
| Ensembl Gene |
ENSMUSG00000052560 |
| Gene Name |
copine VIII |
| Synonyms |
1500031E20Rik, 1200003E11Rik |
| MMRRC Submission |
038737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R0545 (G1)
|
| Quality Score |
211 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90381278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 512
(D512V)
|
| 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: D512V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: D512V
| 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 |
0.9634 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
C |
T |
2: 19,547,187 (GRCm39) |
R76H |
probably damaging |
Het |
| Adnp2 |
T |
C |
18: 80,172,616 (GRCm39) |
I598V |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,311,025 (GRCm39) |
N63D |
probably damaging |
Het |
| Alkbh7 |
C |
T |
17: 57,306,012 (GRCm39) |
R138* |
probably null |
Het |
| Atp6ap1l |
T |
C |
13: 91,031,782 (GRCm39) |
H300R |
probably benign |
Het |
| BC051076 |
C |
T |
5: 88,111,349 (GRCm39) |
|
noncoding transcript |
Het |
| Bltp1 |
G |
A |
3: 37,041,839 (GRCm39) |
|
probably benign |
Het |
| Bpifb9a |
T |
A |
2: 154,103,870 (GRCm39) |
C104* |
probably null |
Het |
| Cacna2d2 |
T |
C |
9: 107,402,422 (GRCm39) |
L826P |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,913,447 (GRCm39) |
D526G |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,167,070 (GRCm39) |
T1861S |
probably benign |
Het |
| Ces2f |
A |
C |
8: 105,676,668 (GRCm39) |
M121L |
possibly damaging |
Het |
| Cfap58 |
G |
A |
19: 47,929,536 (GRCm39) |
|
probably benign |
Het |
| Chpf2 |
T |
C |
5: 24,795,322 (GRCm39) |
S282P |
possibly damaging |
Het |
| Cluap1 |
C |
T |
16: 3,751,636 (GRCm39) |
R332W |
probably damaging |
Het |
| Cma2 |
A |
T |
14: 56,210,570 (GRCm39) |
M86L |
probably benign |
Het |
| Cog6 |
A |
T |
3: 52,903,496 (GRCm39) |
M134K |
probably damaging |
Het |
| Col1a1 |
A |
G |
11: 94,842,420 (GRCm39) |
D1446G |
unknown |
Het |
| Ctnna2 |
T |
A |
6: 77,582,165 (GRCm39) |
N352I |
probably damaging |
Het |
| Cyp2c69 |
A |
C |
19: 39,875,105 (GRCm39) |
L16R |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,076,443 (GRCm39) |
S603P |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,215,217 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
T |
C |
18: 32,378,955 (GRCm39) |
S270P |
probably damaging |
Het |
| F10 |
T |
A |
8: 13,098,249 (GRCm39) |
C151S |
probably damaging |
Het |
| Gpr180 |
T |
G |
14: 118,397,458 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Gstp2 |
T |
C |
19: 4,091,633 (GRCm39) |
E32G |
possibly damaging |
Het |
| Ikzf5 |
T |
C |
7: 130,994,229 (GRCm39) |
T133A |
possibly damaging |
Het |
| Itch |
G |
T |
2: 155,024,218 (GRCm39) |
G274* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,694,758 (GRCm39) |
S1295T |
possibly damaging |
Het |
| Lipc |
A |
G |
9: 70,719,987 (GRCm39) |
L255P |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,077,328 (GRCm39) |
D197G |
probably benign |
Het |
| Mfap2 |
A |
G |
4: 140,741,496 (GRCm39) |
|
probably benign |
Het |
| Mfhas1 |
A |
G |
8: 36,056,202 (GRCm39) |
K226E |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,386,020 (GRCm39) |
R548G |
probably benign |
Het |
| Mrgprb5 |
T |
C |
7: 47,818,633 (GRCm39) |
N34S |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,497,276 (GRCm39) |
T182A |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo5a |
T |
C |
9: 75,074,319 (GRCm39) |
F743L |
possibly damaging |
Het |
| Notch4 |
A |
C |
17: 34,802,407 (GRCm39) |
D1276A |
probably damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,843 (GRCm39) |
Y118* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,873 (GRCm39) |
C76R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,218 (GRCm39) |
C74S |
probably damaging |
Het |
| Or6d15 |
T |
A |
6: 116,559,617 (GRCm39) |
I97L |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,413,567 (GRCm39) |
T353S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,357 (GRCm39) |
T827A |
probably benign |
Het |
| Prlr |
C |
T |
15: 10,317,652 (GRCm39) |
T40I |
probably damaging |
Het |
| Psme3 |
T |
C |
11: 101,210,730 (GRCm39) |
|
probably benign |
Het |
| Pygb |
A |
T |
2: 150,657,626 (GRCm39) |
D363V |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,788,871 (GRCm39) |
Q68* |
probably null |
Het |
| Serpini2 |
A |
G |
3: 75,165,445 (GRCm39) |
V178A |
probably benign |
Het |
| Sh2d2a |
T |
C |
3: 87,759,195 (GRCm39) |
|
probably benign |
Het |
| Skint7 |
A |
C |
4: 111,837,395 (GRCm39) |
M58L |
probably benign |
Het |
| Slco3a1 |
G |
T |
7: 73,970,301 (GRCm39) |
Y435* |
probably null |
Het |
| Stk17b |
T |
C |
1: 53,801,742 (GRCm39) |
|
probably benign |
Het |
| Tinag |
T |
A |
9: 76,938,992 (GRCm39) |
H162L |
possibly damaging |
Het |
| Ttc21a |
T |
A |
9: 119,787,865 (GRCm39) |
L811Q |
probably damaging |
Het |
| Ttc41 |
A |
T |
10: 86,594,961 (GRCm39) |
M912L |
probably benign |
Het |
| Vmn2r98 |
G |
T |
17: 19,273,875 (GRCm39) |
V41F |
probably benign |
Het |
| Washc5 |
C |
T |
15: 59,213,942 (GRCm39) |
C838Y |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,990,796 (GRCm39) |
T352A |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,394,439 (GRCm39) |
C4467G |
unknown |
Het |
| Zc3h7a |
T |
C |
16: 10,970,197 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
C |
A |
13: 67,768,345 (GRCm39) |
C628F |
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 |
|
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'- GCACTCTACAAACAGTGAGCCTGAG -3'
(R):5'- TGACATCCGGCTGTTAACTTCACG -3'
Sequencing Primer
(F):5'- CAAACAGTGAGCCTGAGACAAAG -3'
(R):5'- TAACTTCACGGGGTGCG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation