Incidental Mutation 'R1898:Cpne6'
ID |
212156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne6
|
Ensembl Gene |
ENSMUSG00000022212 |
Gene Name |
copine VI |
Synonyms |
neuronal copine |
MMRRC Submission |
039918-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R1898 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55754485 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 538
(I538F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062232]
[ENSMUST00000074225]
[ENSMUST00000111404]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
[ENSMUST00000178694]
[ENSMUST00000228287]
|
AlphaFold |
Q9Z140 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062232
|
SMART Domains |
Protein: ENSMUSP00000054457 Gene: ENSMUSG00000040632
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
Pfam:Maf_N
|
67 |
101 |
7.3e-18 |
PFAM |
BRLZ
|
157 |
221 |
1.6e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074225
AA Change: I539F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000073847 Gene: ENSMUSG00000022212 AA Change: I539F
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: ENSMUST00000111404
|
SMART Domains |
Protein: ENSMUSP00000107035 Gene: ENSMUSG00000040632
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
Pfam:Maf_N
|
67 |
102 |
2e-15 |
PFAM |
BRLZ
|
157 |
221 |
1.6e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163767
AA Change: I539F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126493 Gene: ENSMUSG00000022212 AA Change: I539F
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: I538F
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132999 Gene: ENSMUSG00000022212 AA Change: I538F
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 |
possibly damaging
Transcript: ENSMUST00000171643
AA Change: I539F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128555 Gene: ENSMUSG00000022212 AA Change: I539F
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 |
noncoding transcript
Transcript: ENSMUST00000169869
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170155
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178694
|
SMART Domains |
Protein: ENSMUSP00000136445 Gene: ENSMUSG00000040632
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
54 |
N/A |
INTRINSIC |
Pfam:Maf_N
|
67 |
102 |
2e-15 |
PFAM |
BRLZ
|
157 |
221 |
1.6e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226858
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228351
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.9%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
C |
A |
4: 53,071,977 (GRCm39) |
R1195L |
probably benign |
Het |
Abca14 |
A |
G |
7: 119,850,392 (GRCm39) |
Y748C |
probably damaging |
Het |
Abca6 |
A |
G |
11: 110,099,625 (GRCm39) |
F974S |
probably damaging |
Het |
Acyp1 |
T |
C |
12: 85,335,114 (GRCm39) |
K2E |
probably benign |
Het |
Ahcy |
T |
A |
2: 154,904,173 (GRCm39) |
S355C |
probably benign |
Het |
AI182371 |
A |
G |
2: 34,990,661 (GRCm39) |
V12A |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,525,683 (GRCm39) |
I215T |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,117,601 (GRCm39) |
R828C |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,062,615 (GRCm39) |
I631F |
probably damaging |
Het |
Brd10 |
T |
C |
19: 29,712,532 (GRCm39) |
N789S |
possibly damaging |
Het |
Brinp3 |
T |
G |
1: 146,776,987 (GRCm39) |
V478G |
possibly damaging |
Het |
Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
Celf2 |
C |
T |
2: 6,608,975 (GRCm39) |
V95M |
probably damaging |
Het |
Chka |
A |
T |
19: 3,942,205 (GRCm39) |
E404D |
probably damaging |
Het |
Clec5a |
A |
C |
6: 40,558,870 (GRCm39) |
V72G |
probably benign |
Het |
Cnn1 |
T |
C |
9: 22,012,560 (GRCm39) |
|
probably null |
Het |
Coq6 |
A |
G |
12: 84,413,737 (GRCm39) |
E89G |
probably benign |
Het |
Crx |
G |
A |
7: 15,602,148 (GRCm39) |
P177S |
probably damaging |
Het |
Cysltr2 |
G |
T |
14: 73,266,973 (GRCm39) |
P246T |
probably damaging |
Het |
Decr1 |
A |
G |
4: 15,929,801 (GRCm39) |
I164T |
probably damaging |
Het |
Dmtf1 |
A |
T |
5: 9,178,091 (GRCm39) |
V315E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,275,874 (GRCm39) |
N2587S |
probably benign |
Het |
E2f6 |
C |
A |
12: 16,874,581 (GRCm39) |
T221K |
probably benign |
Het |
Fat3 |
T |
G |
9: 15,871,426 (GRCm39) |
D3655A |
probably damaging |
Het |
Fbxw28 |
G |
A |
9: 109,152,452 (GRCm39) |
T384I |
probably benign |
Het |
Fes |
T |
A |
7: 80,029,659 (GRCm39) |
I608F |
probably damaging |
Het |
Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
Gabrb2 |
A |
G |
11: 42,484,659 (GRCm39) |
K239E |
possibly damaging |
Het |
Gen1 |
T |
C |
12: 11,291,609 (GRCm39) |
R727G |
probably benign |
Het |
Glb1 |
T |
A |
9: 114,253,103 (GRCm39) |
V184E |
probably damaging |
Het |
Gngt1 |
A |
T |
6: 3,996,724 (GRCm39) |
I57F |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,750,426 (GRCm39) |
I87V |
possibly damaging |
Het |
Itih1 |
A |
G |
14: 30,654,244 (GRCm39) |
Y674H |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,696,468 (GRCm39) |
C24S |
probably damaging |
Het |
Loxl1 |
A |
G |
9: 58,204,961 (GRCm39) |
V418A |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,662,732 (GRCm39) |
N595S |
probably damaging |
Het |
Myo5c |
C |
T |
9: 75,204,908 (GRCm39) |
T1587I |
probably damaging |
Het |
Npat |
T |
A |
9: 53,474,937 (GRCm39) |
F910I |
probably damaging |
Het |
Nradd |
T |
C |
9: 110,450,676 (GRCm39) |
Y167C |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,189,631 (GRCm39) |
E352G |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,641,927 (GRCm39) |
|
probably null |
Het |
Odc1 |
T |
A |
12: 17,598,842 (GRCm39) |
S241T |
probably damaging |
Het |
Or11g2 |
A |
T |
14: 50,856,231 (GRCm39) |
D184V |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,516 (GRCm39) |
N20Y |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,722,615 (GRCm39) |
D951G |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,408 (GRCm39) |
F685L |
probably benign |
Het |
Pnpla7 |
T |
A |
2: 24,943,796 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
C |
T |
4: 143,677,298 (GRCm39) |
V94M |
probably damaging |
Het |
Rcsd1 |
C |
T |
1: 165,486,998 (GRCm39) |
A72T |
probably benign |
Het |
Rp1l1 |
A |
T |
14: 64,269,039 (GRCm39) |
T1542S |
probably benign |
Het |
Sct |
A |
T |
7: 140,858,761 (GRCm39) |
L57Q |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,317 (GRCm39) |
S316G |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,062,613 (GRCm39) |
L1240S |
probably damaging |
Het |
Slc4a1 |
C |
T |
11: 102,241,133 (GRCm39) |
E924K |
probably damaging |
Het |
Sp7 |
A |
T |
15: 102,267,453 (GRCm39) |
Y118N |
possibly damaging |
Het |
Srebf2 |
A |
G |
15: 82,087,936 (GRCm39) |
T219A |
probably damaging |
Het |
Tenm3 |
G |
T |
8: 48,763,796 (GRCm39) |
P753T |
probably damaging |
Het |
Tonsl |
A |
T |
15: 76,523,053 (GRCm39) |
|
probably null |
Het |
Trio |
A |
T |
15: 27,742,466 (GRCm39) |
S2675T |
possibly damaging |
Het |
Tspan12 |
T |
C |
6: 21,795,693 (GRCm39) |
T166A |
probably damaging |
Het |
Ttll4 |
A |
G |
1: 74,736,641 (GRCm39) |
D1122G |
probably benign |
Het |
Vmn1r77 |
G |
A |
7: 11,775,550 (GRCm39) |
A41T |
probably damaging |
Het |
Xpo7 |
A |
T |
14: 70,933,064 (GRCm39) |
F276Y |
probably benign |
Het |
Zdhhc1 |
A |
T |
8: 106,205,378 (GRCm39) |
|
probably null |
Het |
Zfp319 |
C |
A |
8: 96,055,417 (GRCm39) |
C262F |
probably damaging |
Het |
Zfp442 |
C |
T |
2: 150,250,582 (GRCm39) |
C383Y |
probably damaging |
Het |
Zfp57 |
G |
T |
17: 37,320,650 (GRCm39) |
R168L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCTTCTCAACAACTCGTG -3'
(R):5'- CATTACGCCAGCCAAGATGG -3'
Sequencing Primer
(F):5'- ATGTCCTCCAAAGGTCACTGG -3'
(R):5'- CCAAGATGGGCTATTCAGAAGCTC -3'
|
Posted On |
2014-06-30 |