Incidental Mutation 'IGL02669:Cpne6'
| ID |
302835 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
IGL02669
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55751283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 201
(N201S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
|
| AlphaFold |
Q9Z140 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074225
AA Change: N201S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: N201S
| 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: N201S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: N201S
| 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: N201S
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: N201S
| 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: N201S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: N201S
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
A |
16: 19,702,505 (GRCm39) |
|
noncoding transcript |
Het |
| Acap1 |
G |
A |
11: 69,785,421 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
T |
C |
14: 68,745,343 (GRCm39) |
Y627C |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Aoc1l2 |
A |
G |
6: 48,908,407 (GRCm39) |
Y469C |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,238,093 (GRCm39) |
*515R |
probably null |
Het |
| Baiap3 |
C |
T |
17: 25,463,322 (GRCm39) |
V958M |
probably damaging |
Het |
| Brms1l |
A |
T |
12: 55,888,401 (GRCm39) |
D63V |
probably damaging |
Het |
| Cnksr1 |
A |
T |
4: 133,957,774 (GRCm39) |
I435N |
probably damaging |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Dnajc12 |
A |
G |
10: 63,233,071 (GRCm39) |
S71G |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,973,710 (GRCm39) |
|
probably null |
Het |
| E2f3 |
A |
G |
13: 30,100,974 (GRCm39) |
S239P |
probably benign |
Het |
| Eif3e |
T |
A |
15: 43,146,088 (GRCm39) |
M1L |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,823,987 (GRCm39) |
T867A |
probably benign |
Het |
| Erlin1 |
G |
T |
19: 44,027,658 (GRCm39) |
A260E |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,386,324 (GRCm39) |
V38A |
possibly damaging |
Het |
| Foxn1 |
T |
C |
11: 78,261,986 (GRCm39) |
R128G |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,688 (GRCm39) |
L70P |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,802,806 (GRCm39) |
V1139A |
probably damaging |
Het |
| Gpt2 |
G |
T |
8: 86,249,908 (GRCm39) |
M463I |
probably benign |
Het |
| Gtpbp3 |
C |
A |
8: 71,943,546 (GRCm39) |
A201D |
probably damaging |
Het |
| Jaml |
A |
C |
9: 45,015,489 (GRCm39) |
K331T |
possibly damaging |
Het |
| Kntc1 |
G |
A |
5: 123,893,727 (GRCm39) |
|
probably benign |
Het |
| Ksr2 |
A |
G |
5: 117,693,446 (GRCm39) |
K298R |
probably damaging |
Het |
| Mfge8 |
T |
C |
7: 78,795,429 (GRCm39) |
D46G |
probably benign |
Het |
| Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,847,110 (GRCm39) |
M300T |
probably damaging |
Het |
| Or4c118 |
T |
A |
2: 88,974,564 (GRCm39) |
K268* |
probably null |
Het |
| Or4k48 |
A |
T |
2: 111,476,236 (GRCm39) |
Y35* |
probably null |
Het |
| Or52b4 |
A |
G |
7: 102,184,868 (GRCm39) |
M305V |
probably benign |
Het |
| Prdm1 |
A |
T |
10: 44,315,880 (GRCm39) |
M752K |
probably benign |
Het |
| Prl3b1 |
A |
T |
13: 27,429,795 (GRCm39) |
M78L |
probably benign |
Het |
| Ralgps2 |
T |
C |
1: 156,660,268 (GRCm39) |
E268G |
probably damaging |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Slc4a5 |
A |
G |
6: 83,240,525 (GRCm39) |
D279G |
possibly damaging |
Het |
| Tanc1 |
T |
A |
2: 59,630,330 (GRCm39) |
I770K |
probably damaging |
Het |
| Tbl2 |
G |
A |
5: 135,181,852 (GRCm39) |
R64H |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,620,575 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
A |
T |
9: 45,243,824 (GRCm39) |
I187F |
probably benign |
Het |
| Tubb3 |
T |
C |
8: 124,147,856 (GRCm39) |
L263P |
probably damaging |
Het |
| Vmn2r109 |
T |
G |
17: 20,774,518 (GRCm39) |
D279A |
possibly damaging |
Het |
| Vps33b |
A |
G |
7: 79,925,786 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 20,005,033 (GRCm39) |
S338G |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,432 (GRCm39) |
Q1121R |
probably benign |
Het |
| Zic1 |
G |
T |
9: 91,246,486 (GRCm39) |
H195Q |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation