Incidental Mutation 'R1761:Cpne8'
| ID |
192802 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne8
|
| Ensembl Gene |
ENSMUSG00000052560 |
| Gene Name |
copine VIII |
| Synonyms |
1500031E20Rik, 1200003E11Rik |
| MMRRC Submission |
039793-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R1761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
90371684-90563591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90532821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 62
(V62A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014777]
[ENSMUST00000064391]
[ENSMUST00000088649]
|
| AlphaFold |
Q9DC53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014777
AA Change: V62A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014777
Gene: ENSMUSG00000052560
AA Change: V62A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:C2
|
37 |
75 |
6e-21 |
BLAST |
|
SCOP:d1bdya_
|
38 |
64 |
9e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064391
AA Change: V62A
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067774
Gene: ENSMUSG00000052560
AA Change: V62A
| 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 damaging
Transcript: ENSMUST00000088649
AA Change: V62A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086024
Gene: ENSMUSG00000052560
AA Change: V62A
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
37 |
139 |
8.78e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140171
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154569
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,488,672 (GRCm39) |
H1268Y |
possibly damaging |
Het |
| Acan |
T |
A |
7: 78,743,833 (GRCm39) |
Y621* |
probably null |
Het |
| Aig1 |
T |
C |
10: 13,566,328 (GRCm39) |
Y152C |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,232,488 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
G |
T |
16: 23,796,292 (GRCm39) |
A45D |
probably damaging |
Het |
| Cbx5 |
T |
C |
15: 103,121,607 (GRCm39) |
D10G |
possibly damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,763,873 (GRCm39) |
I445V |
probably benign |
Het |
| Cdk4 |
T |
A |
10: 126,900,546 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
A |
G |
3: 106,301,654 (GRCm39) |
F149L |
probably damaging |
Het |
| Cntn5 |
T |
C |
9: 10,172,059 (GRCm39) |
T42A |
probably benign |
Het |
| Cpn2 |
A |
T |
16: 30,079,014 (GRCm39) |
I229N |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,837,431 (GRCm39) |
|
probably null |
Het |
| Crnn |
A |
T |
3: 93,055,958 (GRCm39) |
H248L |
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,826,894 (GRCm39) |
S254G |
probably benign |
Het |
| Cubn |
A |
G |
2: 13,494,128 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
G |
17: 30,998,890 (GRCm39) |
N3525S |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,971,177 (GRCm39) |
L220P |
probably benign |
Het |
| Fam110a |
T |
C |
2: 151,812,125 (GRCm39) |
E215G |
probably benign |
Het |
| Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,941,638 (GRCm39) |
V177A |
possibly damaging |
Het |
| Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
| Gimap5 |
A |
T |
6: 48,730,195 (GRCm39) |
Q255L |
probably damaging |
Het |
| Gm4787 |
A |
G |
12: 81,423,950 (GRCm39) |
L736S |
probably benign |
Het |
| Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
| Gpr156 |
T |
C |
16: 37,807,929 (GRCm39) |
L192P |
probably damaging |
Het |
| Gpr179 |
A |
C |
11: 97,225,932 (GRCm39) |
S2074R |
probably benign |
Het |
| Hddc2 |
G |
T |
10: 31,202,135 (GRCm39) |
D161Y |
probably damaging |
Het |
| Hlcs |
T |
C |
16: 94,068,866 (GRCm39) |
D265G |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,241,984 (GRCm39) |
I573F |
possibly damaging |
Het |
| Il1b |
T |
C |
2: 129,207,101 (GRCm39) |
K220E |
probably damaging |
Het |
| Il5 |
T |
C |
11: 53,614,557 (GRCm39) |
I66T |
probably damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,609 (GRCm39) |
R400H |
probably damaging |
Het |
| Klra1 |
A |
T |
6: 130,349,836 (GRCm39) |
Y201N |
probably damaging |
Het |
| Lmf2 |
A |
G |
15: 89,236,916 (GRCm39) |
V442A |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,866,770 (GRCm39) |
I412M |
possibly damaging |
Het |
| Mlkl |
T |
A |
8: 112,060,355 (GRCm39) |
L18F |
possibly damaging |
Het |
| Mug2 |
C |
A |
6: 122,051,664 (GRCm39) |
H949N |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,275,091 (GRCm39) |
F51L |
probably damaging |
Het |
| Or52j3 |
T |
G |
7: 102,836,325 (GRCm39) |
C172W |
probably damaging |
Het |
| Or7d10 |
A |
T |
9: 19,832,445 (GRCm39) |
*313C |
probably null |
Het |
| Or8k18 |
T |
G |
2: 86,085,383 (GRCm39) |
Y218S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,803,800 (GRCm39) |
E322G |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,342,438 (GRCm39) |
Y182H |
probably benign |
Het |
| Psmg2 |
CTTCAGTT |
CTTCAGTTCAGTT |
18: 67,779,095 (GRCm39) |
|
probably null |
Het |
| Ptdss1 |
T |
C |
13: 67,104,476 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,584,040 (GRCm39) |
I154F |
probably damaging |
Het |
| Scgn |
A |
T |
13: 24,143,689 (GRCm39) |
F225Y |
probably damaging |
Het |
| Sec61b |
T |
C |
4: 47,480,137 (GRCm39) |
C58R |
possibly damaging |
Het |
| Slc25a46 |
G |
T |
18: 31,740,315 (GRCm39) |
Q96K |
possibly damaging |
Het |
| Spmip6 |
G |
A |
4: 41,507,223 (GRCm39) |
P109L |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,659,382 (GRCm39) |
F1173L |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,134,017 (GRCm39) |
C893S |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,380,641 (GRCm39) |
E509G |
probably damaging |
Het |
| Timm10b |
C |
T |
7: 105,332,915 (GRCm39) |
R897* |
probably null |
Het |
| Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
| Tom1 |
T |
C |
8: 75,778,179 (GRCm39) |
V87A |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,849,617 (GRCm39) |
I541V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
| Vgll3 |
A |
T |
16: 65,636,614 (GRCm39) |
D310V |
probably damaging |
Het |
| Vmac |
A |
G |
17: 57,022,788 (GRCm39) |
L74P |
probably damaging |
Het |
| Zbtb1 |
A |
T |
12: 76,432,595 (GRCm39) |
K194* |
probably null |
Het |
| Zfp429 |
A |
G |
13: 67,544,195 (GRCm39) |
M76T |
probably benign |
Het |
| Zfp808 |
T |
A |
13: 62,319,460 (GRCm39) |
C230S |
possibly damaging |
Het |
| Zfp980 |
A |
G |
4: 145,428,612 (GRCm39) |
Y447C |
probably damaging |
Het |
| Zfp985 |
A |
G |
4: 147,668,502 (GRCm39) |
T457A |
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 |
|
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'- CCTGGAAGACTGCATGAGATGCTC -3'
(R):5'- TACTTTTGCCCCAGGTTGGCAC -3'
Sequencing Primer
(F):5'- ATGCTCAGGAGTGCAATTTAGC -3'
(R):5'- CCAGGTTGGCACTTTAAGTGAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation