Incidental Mutation 'R6111:Cpne6'
| ID |
484866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| MMRRC Submission |
044260-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R6111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55752091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 283
(V283M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128555
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062232]
[ENSMUST00000074225]
[ENSMUST00000111404]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
[ENSMUST00000178694]
|
| 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 |
probably benign
Transcript: ENSMUST00000074225
AA Change: V283M
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: V283M
| 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 |
probably benign
Transcript: ENSMUST00000163767
AA Change: V283M
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: V283M
| 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: V283M
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: V283M
| 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 |
probably benign
Transcript: ENSMUST00000171643
AA Change: V283M
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: V283M
| 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: 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: ENSMUST00000228351
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
| Validation Efficiency |
98% (57/58) |
| 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 |
|---|
| 2210408I21Rik |
A |
G |
13: 77,476,021 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Abcd4 |
G |
A |
12: 84,661,888 (GRCm39) |
T79I |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,424,919 (GRCm39) |
M407T |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,877,360 (GRCm39) |
H460L |
probably damaging |
Het |
| Atad2 |
G |
A |
15: 57,971,487 (GRCm39) |
H752Y |
probably benign |
Het |
| Bmal2 |
T |
C |
6: 146,722,097 (GRCm39) |
F223L |
probably benign |
Het |
| Camsap2 |
A |
G |
1: 136,209,036 (GRCm39) |
S819P |
probably benign |
Het |
| Col24a1 |
C |
A |
3: 145,019,815 (GRCm39) |
T62K |
probably damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,055,368 (GRCm39) |
S590P |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,989,038 (GRCm39) |
M146K |
unknown |
Het |
| Dclk2 |
A |
G |
3: 86,712,968 (GRCm39) |
Y495H |
probably benign |
Het |
| Ddx4 |
A |
T |
13: 112,757,766 (GRCm39) |
C330* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,931,692 (GRCm39) |
L37P |
possibly damaging |
Het |
| Dock2 |
G |
A |
11: 34,599,614 (GRCm39) |
P322S |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,208,323 (GRCm39) |
E443G |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 23,015,953 (GRCm39) |
D338V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,805,566 (GRCm39) |
I267V |
probably damaging |
Het |
| Gfra3 |
T |
A |
18: 34,823,927 (GRCm39) |
H349L |
probably damaging |
Het |
| Gm25747 |
A |
G |
12: 113,392,703 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
G |
A |
9: 4,502,430 (GRCm39) |
R368C |
probably damaging |
Het |
| H2-Q5 |
A |
T |
17: 35,613,885 (GRCm39) |
I145F |
possibly damaging |
Het |
| Hace1 |
A |
T |
10: 45,465,606 (GRCm39) |
K54I |
possibly damaging |
Het |
| Ift122 |
T |
A |
6: 115,852,247 (GRCm39) |
I79N |
probably damaging |
Het |
| Ino80b |
A |
G |
6: 83,101,347 (GRCm39) |
V121A |
probably damaging |
Het |
| Kcnq1 |
A |
G |
7: 142,661,474 (GRCm39) |
T63A |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,050,822 (GRCm39) |
Q762K |
probably benign |
Het |
| Mios |
G |
A |
6: 8,214,836 (GRCm39) |
A11T |
probably benign |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,609 (GRCm39) |
S2091P |
probably benign |
Het |
| Nudt19 |
T |
A |
7: 35,254,952 (GRCm39) |
D93V |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,228 (GRCm39) |
I91T |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,791,994 (GRCm39) |
T233A |
probably benign |
Het |
| P3h1 |
C |
T |
4: 119,098,329 (GRCm39) |
R369* |
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,242 (GRCm39) |
I403L |
probably benign |
Het |
| Pigo |
T |
C |
4: 43,019,724 (GRCm39) |
D935G |
probably benign |
Het |
| Plpp1 |
A |
G |
13: 113,003,451 (GRCm39) |
H224R |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,078,732 (GRCm39) |
M932K |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,384,412 (GRCm39) |
F122L |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,546,153 (GRCm39) |
T77A |
unknown |
Het |
| Skint5 |
T |
C |
4: 113,562,845 (GRCm39) |
T786A |
unknown |
Het |
| Smok3c |
C |
A |
5: 138,063,365 (GRCm39) |
P284Q |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,923,963 (GRCm39) |
V786A |
probably damaging |
Het |
| Tmem273 |
T |
C |
14: 32,528,755 (GRCm39) |
I40T |
possibly damaging |
Het |
| Tnfrsf10b |
T |
A |
14: 70,020,007 (GRCm39) |
C380S |
possibly damaging |
Het |
| Tsen54 |
T |
C |
11: 115,710,956 (GRCm39) |
V176A |
possibly damaging |
Het |
| Ttll4 |
A |
T |
1: 74,736,698 (GRCm39) |
K1141M |
possibly damaging |
Het |
| Ttpa |
A |
T |
4: 20,014,772 (GRCm39) |
I116F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,123 (GRCm39) |
D1655G |
possibly damaging |
Het |
| Usp38 |
A |
G |
8: 81,740,551 (GRCm39) |
V172A |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
| Wdr72 |
T |
C |
9: 74,117,607 (GRCm39) |
M773T |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,161 (GRCm39) |
H1467Q |
possibly damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,042,762 (GRCm39) |
S479R |
probably damaging |
Het |
| Zfp423 |
A |
G |
8: 88,509,315 (GRCm39) |
V322A |
probably damaging |
Het |
| Zfp87 |
T |
G |
13: 74,520,504 (GRCm39) |
E191D |
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,913,217 (GRCm39) |
T14A |
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 |
|
|
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'- AAAATGCCCAGGCTTGGCAG -3'
(R):5'- ATGGTCAAGCACCTGTGTG -3'
Sequencing Primer
(F):5'- CCAGGCTTGGCAGAAGGAC -3'
(R):5'- TGATCCCTGGAACCAATATGG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation