Incidental Mutation 'R8083:Cpne6'
| ID |
629479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| MMRRC Submission |
067516-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R8083 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55750698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 140
(I140L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000076236]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
| AlphaFold |
Q9Z140 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074225
AA Change: I140L
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: I140L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
6.65e-3 |
SMART |
|
C2
|
155 |
258 |
7.51e-11 |
SMART |
|
VWA
|
304 |
506 |
4.37e-14 |
SMART |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076236
|
| SMART Domains |
Protein: ENSMUSP00000075587
Gene: ENSMUSG00000022211
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
203 |
297 |
7.56e-6 |
PROSPERO |
|
Blast:LRR
|
333 |
362 |
5e-10 |
BLAST |
|
Blast:LRR
|
423 |
446 |
1e-5 |
BLAST |
|
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
496 |
593 |
7.56e-6 |
PROSPERO |
|
Pfam:CARMIL_C
|
778 |
1065 |
5.3e-76 |
PFAM |
|
low complexity region
|
1068 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1146 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1318 |
1329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163767
AA Change: I140L
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: I140L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
6.65e-3 |
SMART |
|
C2
|
155 |
258 |
7.51e-11 |
SMART |
|
VWA
|
304 |
506 |
4.37e-14 |
SMART |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165262
AA Change: I140L
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: I140L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
6.65e-3 |
SMART |
|
C2
|
155 |
258 |
7.51e-11 |
SMART |
|
VWA
|
304 |
505 |
2.34e-14 |
SMART |
|
low complexity region
|
542 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165725
|
| SMART Domains |
Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
1.22e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171643
AA Change: I140L
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: I140L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
6.65e-3 |
SMART |
|
C2
|
155 |
258 |
7.51e-11 |
SMART |
|
VWA
|
304 |
506 |
4.37e-14 |
SMART |
|
low complexity region
|
543 |
557 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.5%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encodes a calcium-dependent protein containing two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
G |
2: 152,282,987 (GRCm39) |
E255G |
possibly damaging |
Het |
| Abcg5 |
A |
T |
17: 84,965,971 (GRCm39) |
L635Q |
probably damaging |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,362,752 (GRCm39) |
C558S |
probably damaging |
Het |
| Adamtsl4 |
C |
T |
3: 95,591,711 (GRCm39) |
V126M |
possibly damaging |
Het |
| Apobec1 |
G |
A |
6: 122,555,888 (GRCm39) |
P190S |
probably damaging |
Het |
| Arel1 |
A |
T |
12: 84,987,136 (GRCm39) |
H93Q |
probably benign |
Het |
| Bpifa2 |
T |
G |
2: 153,852,412 (GRCm39) |
V96G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,023,529 (GRCm39) |
V923I |
possibly damaging |
Het |
| Caprin2 |
A |
C |
6: 148,744,346 (GRCm39) |
Y1026* |
probably null |
Het |
| Cdk8 |
T |
G |
5: 146,205,100 (GRCm39) |
W34G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,000,058 (GRCm39) |
Q28L |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,971,957 (GRCm39) |
E629G |
probably damaging |
Het |
| Chaf1b |
T |
A |
16: 93,691,630 (GRCm39) |
C255S |
probably damaging |
Het |
| Clcn4 |
A |
G |
7: 7,294,427 (GRCm39) |
F445L |
possibly damaging |
Het |
| Cyp2b23 |
C |
A |
7: 26,385,828 (GRCm39) |
A10S |
possibly damaging |
Het |
| Eci3 |
G |
T |
13: 35,140,873 (GRCm39) |
T103K |
probably benign |
Het |
| Eri3 |
T |
A |
4: 117,450,359 (GRCm39) |
M253K |
probably damaging |
Het |
| Gm21103 |
C |
T |
14: 17,482,895 (GRCm39) |
V169M |
possibly damaging |
Het |
| Gm6594 |
G |
A |
17: 82,846,897 (GRCm39) |
A71T |
probably benign |
Het |
| Gns |
T |
C |
10: 121,214,008 (GRCm39) |
S228P |
probably damaging |
Het |
| Hbegf |
A |
T |
18: 36,648,224 (GRCm39) |
S46T |
probably benign |
Het |
| Hcn1 |
GCAACAACA |
GCAACAACAACA |
13: 118,112,296 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
A |
8: 13,057,875 (GRCm39) |
|
probably null |
Het |
| Nfasc |
T |
C |
1: 132,524,320 (GRCm39) |
D846G |
probably benign |
Het |
| Nt5dc2 |
A |
G |
14: 30,856,783 (GRCm39) |
Y103C |
probably damaging |
Het |
| Osbpl9 |
C |
T |
4: 108,943,572 (GRCm39) |
V147M |
possibly damaging |
Het |
| Pid1 |
T |
C |
1: 84,015,970 (GRCm39) |
I146V |
probably benign |
Het |
| Rangap1 |
A |
G |
15: 81,603,101 (GRCm39) |
I108T |
probably benign |
Het |
| Rbm12b1 |
T |
C |
4: 12,146,409 (GRCm39) |
Y794H |
probably damaging |
Het |
| Rprd1b |
T |
C |
2: 157,892,052 (GRCm39) |
S192P |
probably damaging |
Het |
| Sacs |
A |
T |
14: 61,448,166 (GRCm39) |
D3404V |
possibly damaging |
Het |
| Setd5 |
G |
T |
6: 113,091,971 (GRCm39) |
G264V |
probably damaging |
Het |
| Tagln2 |
A |
T |
1: 172,332,766 (GRCm39) |
I18F |
possibly damaging |
Het |
| Tex51 |
T |
C |
18: 32,591,807 (GRCm39) |
|
probably null |
Het |
| Ttc17 |
C |
A |
2: 94,204,909 (GRCm39) |
V338F |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,339,043 (GRCm39) |
M428K |
possibly damaging |
Het |
| Zfp503 |
A |
T |
14: 22,036,132 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp784 |
T |
C |
7: 5,038,905 (GRCm39) |
T218A |
possibly damaging |
Het |
| Zp3 |
A |
C |
5: 136,013,376 (GRCm39) |
D236A |
probably damaging |
Het |
|
| Other mutations in Cpne6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Cpne6
|
APN |
14 |
55,750,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Cpne6
|
APN |
14 |
55,752,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01548:Cpne6
|
APN |
14 |
55,750,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01867:Cpne6
|
APN |
14 |
55,751,137 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01902:Cpne6
|
APN |
14 |
55,750,207 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02669:Cpne6
|
APN |
14 |
55,751,283 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02695:Cpne6
|
APN |
14 |
55,752,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Cpne6
|
APN |
14 |
55,753,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Cpne6
|
UTSW |
14 |
55,752,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU23:Cpne6
|
UTSW |
14 |
55,749,459 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0504:Cpne6
|
UTSW |
14 |
55,752,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1472:Cpne6
|
UTSW |
14 |
55,752,092 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1538:Cpne6
|
UTSW |
14 |
55,752,677 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1898:Cpne6
|
UTSW |
14 |
55,754,485 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2679:Cpne6
|
UTSW |
14 |
55,753,786 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4235:Cpne6
|
UTSW |
14 |
55,751,057 (GRCm39) |
intron |
probably benign |
|
|
R4453:Cpne6
|
UTSW |
14 |
55,750,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4471:Cpne6
|
UTSW |
14 |
55,754,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Cpne6
|
UTSW |
14 |
55,754,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5171:Cpne6
|
UTSW |
14 |
55,749,605 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5243:Cpne6
|
UTSW |
14 |
55,750,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5999:Cpne6
|
UTSW |
14 |
55,750,516 (GRCm39) |
missense |
probably benign |
|
|
R6111:Cpne6
|
UTSW |
14 |
55,752,091 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6475:Cpne6
|
UTSW |
14 |
55,751,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Cpne6
|
UTSW |
14 |
55,751,122 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6787:Cpne6
|
UTSW |
14 |
55,752,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Cpne6
|
UTSW |
14 |
55,751,751 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7453:Cpne6
|
UTSW |
14 |
55,749,473 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7707:Cpne6
|
UTSW |
14 |
55,753,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Cpne6
|
UTSW |
14 |
55,750,066 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7935:Cpne6
|
UTSW |
14 |
55,750,066 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7998:Cpne6
|
UTSW |
14 |
55,753,751 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8141:Cpne6
|
UTSW |
14 |
55,750,066 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8144:Cpne6
|
UTSW |
14 |
55,750,066 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8145:Cpne6
|
UTSW |
14 |
55,752,025 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8190:Cpne6
|
UTSW |
14 |
55,749,485 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8919:Cpne6
|
UTSW |
14 |
55,750,104 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Cpne6
|
UTSW |
14 |
55,750,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8983:Cpne6
|
UTSW |
14 |
55,753,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9426:Cpne6
|
UTSW |
14 |
55,751,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9540:Cpne6
|
UTSW |
14 |
55,750,108 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9772:Cpne6
|
UTSW |
14 |
55,754,117 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCCACCTTATCCTGATCAAAGG -3'
(R):5'- CGACCTTGTTATCCAGCTTGTG -3'
Sequencing Primer
(F):5'- GGCCAACCTTATGGACTCTATAG -3'
(R):5'- GCACATAGTCGTTGGTACCTGATAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation