Incidental Mutation 'R9426:Cpne6'
ID |
712643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne6
|
Ensembl Gene |
ENSMUSG00000022212 |
Gene Name |
copine VI |
Synonyms |
neuronal copine |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R9426 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 55751176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073847
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000074225]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
|
AlphaFold |
Q9Z140 |
Predicted Effect |
probably null
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 null
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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
Nfib |
T |
G |
4: 82,416,529 (GRCm39) |
T170P |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
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 |
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 |
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'- AGACCAGTTCTCTTCTCAGTGTTAC -3'
(R):5'- GTGCTTATCACACGAGGGAG -3'
Sequencing Primer
(F):5'- AGTGTTACCTGCCTTCTCATC -3'
(R):5'- TGGATGCTCCAGGGCTTTACC -3'
|
Posted On |
2022-05-16 |