Incidental Mutation 'R6535:Cpne6'
ID |
520349 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne6
|
Ensembl Gene |
ENSMUSG00000022212 |
Gene Name |
copine VI |
Synonyms |
neuronal copine |
MMRRC Submission |
044661-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R6535 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55751122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 177
(E177V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
|
AlphaFold |
Q9Z140 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074225
AA Change: E177V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000073847 Gene: ENSMUSG00000022212 AA Change: E177V
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: ENSMUST00000163767
AA Change: E177V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126493 Gene: ENSMUSG00000022212 AA Change: E177V
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: ENSMUST00000165262
AA Change: E177V
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000132999 Gene: ENSMUSG00000022212 AA Change: E177V
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 |
noncoding transcript
Transcript: ENSMUST00000169869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171643
AA Change: E177V
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128555 Gene: ENSMUSG00000022212 AA Change: E177V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
B4gat1 |
T |
C |
19: 5,089,558 (GRCm39) |
V185A |
possibly damaging |
Het |
Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,070,570 (GRCm39) |
L400P |
probably damaging |
Het |
Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
Hip1 |
T |
C |
5: 135,457,351 (GRCm39) |
|
probably null |
Het |
Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
Rhbdl1 |
A |
T |
17: 26,054,799 (GRCm39) |
Y111* |
probably null |
Het |
Sbk3 |
A |
C |
7: 4,972,840 (GRCm39) |
M110R |
possibly damaging |
Het |
Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
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 |
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 |
R8083:Cpne6
|
UTSW |
14 |
55,750,698 (GRCm39) |
missense |
probably benign |
0.42 |
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'- ATCCACGCCCCATTAGAGAG -3'
(R):5'- ATGCTCCAGGGCTTTACCTTG -3'
Sequencing Primer
(F):5'- GCCCCATTAGAGAGAGCCATAG -3'
(R):5'- TGGATGTCACAGCTGCAC -3'
|
Posted On |
2018-06-06 |