Incidental Mutation 'R4235:Cpne6'
| ID |
321089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| MMRRC Submission |
041052-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R4235 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 55751057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
| 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
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
| 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
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
| 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
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
97% (68/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| 5730596B20Rik |
G |
T |
6: 52,155,941 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Atp7b |
A |
G |
8: 22,501,039 (GRCm39) |
Y955H |
possibly damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,751 (GRCm39) |
V231A |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,978,798 (GRCm39) |
S839P |
probably damaging |
Het |
| Casp8 |
T |
A |
1: 58,872,857 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Cc2d1b |
A |
T |
4: 108,482,549 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dgkd |
T |
A |
1: 87,859,704 (GRCm39) |
L774* |
probably null |
Het |
| Fbxl2 |
T |
A |
9: 113,818,231 (GRCm39) |
N205I |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,073 (GRCm39) |
D1953E |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,254,693 (GRCm39) |
I269K |
probably benign |
Het |
| Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
| Has1 |
G |
T |
17: 18,070,298 (GRCm39) |
R208S |
possibly damaging |
Het |
| Hecw1 |
C |
G |
13: 14,491,724 (GRCm39) |
A423P |
probably benign |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Ifi208 |
T |
G |
1: 173,510,477 (GRCm39) |
S211A |
probably benign |
Het |
| Ighv6-3 |
T |
C |
12: 114,355,494 (GRCm39) |
E65G |
probably damaging |
Het |
| Igkv9-120 |
A |
T |
6: 68,027,317 (GRCm39) |
D77V |
probably benign |
Het |
| Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
| Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,549 (GRCm39) |
I932T |
probably damaging |
Het |
| Krt17 |
T |
C |
11: 100,148,694 (GRCm39) |
T279A |
possibly damaging |
Het |
| Lamp1 |
T |
C |
8: 13,217,192 (GRCm39) |
V67A |
possibly damaging |
Het |
| Limk1 |
T |
C |
5: 134,699,332 (GRCm39) |
I142V |
probably benign |
Het |
| Mamdc2 |
T |
C |
19: 23,351,381 (GRCm39) |
N182D |
possibly damaging |
Het |
| Mcpt1 |
G |
A |
14: 56,256,017 (GRCm39) |
|
probably null |
Het |
| Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
| Mfsd10 |
G |
T |
5: 34,792,969 (GRCm39) |
T44N |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,541,549 (GRCm39) |
S218P |
probably damaging |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Neil2 |
A |
C |
14: 63,429,290 (GRCm39) |
M1R |
probably null |
Het |
| Nelfcd |
T |
C |
2: 174,268,841 (GRCm39) |
F587L |
probably damaging |
Het |
| Nfil3 |
T |
C |
13: 53,122,835 (GRCm39) |
D23G |
probably benign |
Het |
| Nit2 |
T |
C |
16: 56,977,523 (GRCm39) |
K169R |
probably benign |
Het |
| Nxt1 |
T |
C |
2: 148,517,267 (GRCm39) |
S3P |
probably benign |
Het |
| Ogt |
A |
G |
X: 100,711,131 (GRCm39) |
N434D |
probably damaging |
Het |
| Or56a3 |
T |
A |
7: 104,734,994 (GRCm39) |
S24T |
possibly damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Pramel25 |
G |
C |
4: 143,521,344 (GRCm39) |
C320S |
probably damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rsl1 |
T |
C |
13: 67,325,226 (GRCm39) |
|
probably null |
Het |
| Sobp |
G |
A |
10: 42,898,896 (GRCm39) |
H230Y |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,916,600 (GRCm39) |
E2096G |
probably damaging |
Het |
| Tie1 |
G |
T |
4: 118,335,602 (GRCm39) |
S797* |
probably null |
Het |
| Tmem266 |
T |
C |
9: 55,325,391 (GRCm39) |
I186T |
probably damaging |
Het |
| Tmem38b |
T |
C |
4: 53,840,710 (GRCm39) |
C66R |
probably damaging |
Het |
| Tnfaip6 |
T |
C |
2: 51,940,876 (GRCm39) |
F139S |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,770,903 (GRCm39) |
S898P |
probably benign |
Het |
| Trim24 |
A |
G |
6: 37,941,675 (GRCm39) |
D911G |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,647 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
C |
T |
2: 69,846,729 (GRCm39) |
Q1651* |
probably null |
Het |
| Unc13c |
T |
A |
9: 73,438,234 (GRCm39) |
I1943F |
possibly damaging |
Het |
| Usp47 |
T |
A |
7: 111,709,255 (GRCm39) |
S1334T |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,101 (GRCm39) |
V47E |
probably benign |
Het |
| Vmn1r224 |
T |
A |
17: 20,639,624 (GRCm39) |
M67K |
possibly damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,070,500 (GRCm39) |
|
probably null |
Het |
| Zfc3h1 |
T |
C |
10: 115,254,704 (GRCm39) |
Y1433H |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCAGGTACCAACGACTATGTGC -3'
(R):5'- TTTGAGAGGTACGAGGGACC -3'
Sequencing Primer
(F):5'- CGACTATGTGCAACTTACCTTCAGAG -3'
(R):5'- GGGACCTTGTCACCAACTGTCTAAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation