Incidental Mutation 'R5999:Cpne6'
ID |
480742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne6
|
Ensembl Gene |
ENSMUSG00000022212 |
Gene Name |
copine VI |
Synonyms |
neuronal copine |
MMRRC Submission |
044178-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R5999 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55750516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130799
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000076236]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000226757]
[ENSMUST00000228877]
[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: ENSMUST00000076236
|
SMART Domains |
Protein: ENSMUSP00000075587 Gene: ENSMUSG00000022211
Domain | Start | End | E-Value | Type |
low complexity region
|
138 |
151 |
N/A |
INTRINSIC |
internal_repeat_1
|
203 |
297 |
7.56e-6 |
PROSPERO |
Blast:LRR
|
333 |
362 |
5e-10 |
BLAST |
Blast:LRR
|
423 |
446 |
1e-5 |
BLAST |
low complexity region
|
447 |
462 |
N/A |
INTRINSIC |
low complexity region
|
468 |
479 |
N/A |
INTRINSIC |
internal_repeat_1
|
496 |
593 |
7.56e-6 |
PROSPERO |
Pfam:CARMIL_C
|
778 |
1065 |
5.3e-76 |
PFAM |
low complexity region
|
1068 |
1117 |
N/A |
INTRINSIC |
low complexity region
|
1137 |
1146 |
N/A |
INTRINSIC |
low complexity region
|
1204 |
1216 |
N/A |
INTRINSIC |
low complexity region
|
1318 |
1329 |
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
AA Change: V119A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130799 Gene: ENSMUSG00000022212 AA Change: V119A
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 |
noncoding transcript
Transcript: ENSMUST00000228760
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226757
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227312
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226388
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (55/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
Ugt2b37 |
A |
C |
5: 87,402,036 (GRCm39) |
I198M |
probably benign |
Het |
Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
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 |
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 |
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'- GCTCTTTCTGAGGCTGGATC -3'
(R):5'- CGTGATAGTAGACTTGCCCG -3'
Sequencing Primer
(F):5'- TGTACCCTTGGACAAGATGC -3'
(R):5'- ATAGTAGACTTGCCCGCCGTC -3'
|
Posted On |
2017-06-26 |