Incidental Mutation 'R2679:Cpne6'
ID |
250818 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpne6
|
Ensembl Gene |
ENSMUSG00000022212 |
Gene Name |
copine VI |
Synonyms |
neuronal copine |
MMRRC Submission |
040432-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.338)
|
Stock # |
R2679 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55753786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 415
(I415F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062232]
[ENSMUST00000074225]
[ENSMUST00000111404]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
[ENSMUST00000228287]
[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 |
possibly damaging
Transcript: ENSMUST00000074225
AA Change: I415F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000073847 Gene: ENSMUSG00000022212 AA Change: I415F
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: I415F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000126493 Gene: ENSMUSG00000022212 AA Change: I415F
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: I415F
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132999 Gene: ENSMUSG00000022212 AA Change: I415F
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 |
possibly damaging
Transcript: ENSMUST00000171643
AA Change: I415F
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128555 Gene: ENSMUSG00000022212 AA Change: I415F
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 |
noncoding transcript
Transcript: ENSMUST00000228351
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226858
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228287
|
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 |
|
Meta Mutation Damage Score |
0.9050 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
97% (67/69) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asic2 |
A |
G |
11: 81,042,780 (GRCm39) |
V171A |
probably benign |
Het |
Atf7ip |
A |
T |
6: 136,543,649 (GRCm39) |
I641L |
possibly damaging |
Het |
Atrn |
G |
A |
2: 130,803,595 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
T |
C |
2: 153,790,544 (GRCm39) |
I145T |
probably damaging |
Het |
Bub3 |
A |
G |
7: 131,170,454 (GRCm39) |
|
probably null |
Het |
Catsperb |
T |
A |
12: 101,429,404 (GRCm39) |
D192E |
probably damaging |
Het |
Ccdc178 |
G |
A |
18: 21,944,613 (GRCm39) |
H849Y |
possibly damaging |
Het |
Cd101 |
G |
T |
3: 100,901,079 (GRCm39) |
Q998K |
probably benign |
Het |
Cep135 |
A |
T |
5: 76,772,507 (GRCm39) |
M631L |
probably benign |
Het |
Cit |
T |
C |
5: 116,107,174 (GRCm39) |
V1102A |
probably benign |
Het |
Col4a4 |
G |
A |
1: 82,507,332 (GRCm39) |
T249M |
unknown |
Het |
Cyp4b1 |
T |
C |
4: 115,485,894 (GRCm39) |
I348V |
probably benign |
Het |
Defb28 |
T |
C |
2: 152,360,202 (GRCm39) |
S6P |
possibly damaging |
Het |
Dhrs7b |
A |
G |
11: 60,743,344 (GRCm39) |
|
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,083,910 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,724,825 (GRCm39) |
T476A |
probably benign |
Het |
Enpp5 |
A |
G |
17: 44,396,279 (GRCm39) |
D397G |
probably damaging |
Het |
Eogt |
G |
A |
6: 97,097,761 (GRCm39) |
T279I |
probably benign |
Het |
Fnip2 |
G |
A |
3: 79,388,233 (GRCm39) |
H833Y |
probably benign |
Het |
Gabrr2 |
A |
T |
4: 33,071,435 (GRCm39) |
T92S |
probably damaging |
Het |
Gm10110 |
T |
A |
14: 90,134,852 (GRCm39) |
|
noncoding transcript |
Het |
Gria2 |
A |
G |
3: 80,648,260 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
G |
T |
1: 150,528,326 (GRCm39) |
T3274N |
possibly damaging |
Het |
Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,176,279 (GRCm39) |
K569E |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,372 (GRCm39) |
Y46C |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,959,136 (GRCm39) |
|
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,880,745 (GRCm39) |
R552* |
probably null |
Het |
Med13 |
A |
G |
11: 86,189,403 (GRCm39) |
S1169P |
probably benign |
Het |
Muc4 |
T |
A |
16: 32,577,846 (GRCm39) |
D2374E |
unknown |
Het |
Myl9 |
T |
A |
2: 156,622,426 (GRCm39) |
L70Q |
probably damaging |
Het |
Nebl |
C |
T |
2: 17,429,402 (GRCm39) |
S243N |
probably benign |
Het |
Nfat5 |
A |
G |
8: 108,071,546 (GRCm39) |
Y314C |
probably damaging |
Het |
Nr2f6 |
T |
A |
8: 71,827,380 (GRCm39) |
D307V |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,824,237 (GRCm39) |
S781P |
probably benign |
Het |
Nub1 |
C |
T |
5: 24,897,923 (GRCm39) |
T103I |
possibly damaging |
Het |
Or4b1d |
A |
T |
2: 89,968,889 (GRCm39) |
V198D |
possibly damaging |
Het |
Or51h5 |
T |
A |
7: 102,577,238 (GRCm39) |
Y134* |
probably null |
Het |
Pex5l |
A |
T |
3: 33,136,201 (GRCm39) |
M6K |
probably benign |
Het |
Pgm3 |
A |
C |
9: 86,451,374 (GRCm39) |
C93W |
probably benign |
Het |
Pkhd1 |
A |
G |
1: 20,279,406 (GRCm39) |
S2971P |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,408,782 (GRCm39) |
L2423P |
probably damaging |
Het |
Prkce |
A |
G |
17: 86,483,654 (GRCm39) |
|
probably benign |
Het |
Ptbp3 |
A |
G |
4: 59,494,615 (GRCm39) |
|
probably benign |
Het |
Ptgis |
T |
A |
2: 167,050,113 (GRCm39) |
M339L |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,025,568 (GRCm39) |
|
probably benign |
Het |
Rab44 |
T |
A |
17: 29,363,451 (GRCm39) |
|
probably null |
Het |
Ric1 |
A |
G |
19: 29,581,430 (GRCm39) |
S1275G |
probably benign |
Het |
Rnf213 |
C |
A |
11: 119,350,764 (GRCm39) |
|
probably null |
Het |
Rtn4rl1 |
A |
T |
11: 75,156,552 (GRCm39) |
E328V |
probably benign |
Het |
Saraf |
C |
T |
8: 34,632,428 (GRCm39) |
T169I |
probably damaging |
Het |
Sbk2 |
T |
A |
7: 4,960,119 (GRCm39) |
|
probably null |
Het |
Setd1a |
T |
G |
7: 127,394,896 (GRCm39) |
|
probably benign |
Het |
Sit1 |
A |
G |
4: 43,483,157 (GRCm39) |
Y73H |
probably damaging |
Het |
Slc44a4 |
T |
C |
17: 35,142,399 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
T |
3: 94,173,217 (GRCm39) |
Y75F |
probably damaging |
Het |
Tas2r125 |
A |
G |
6: 132,887,190 (GRCm39) |
T193A |
probably benign |
Het |
Tbc1d9b |
T |
A |
11: 50,052,528 (GRCm39) |
|
probably null |
Het |
Tcf7l1 |
G |
T |
6: 72,604,403 (GRCm39) |
H580Q |
probably benign |
Het |
Tead1 |
T |
G |
7: 112,456,053 (GRCm39) |
S115A |
probably damaging |
Het |
Top2b |
G |
A |
14: 16,413,947 (GRCm38) |
G29D |
probably damaging |
Het |
Trpv4 |
A |
T |
5: 114,773,613 (GRCm39) |
C250S |
probably damaging |
Het |
U2surp |
A |
C |
9: 95,358,285 (GRCm39) |
I655S |
possibly damaging |
Het |
Ube2a |
G |
A |
X: 36,138,360 (GRCm39) |
|
probably benign |
Het |
Ubl7 |
A |
G |
9: 57,821,882 (GRCm39) |
D77G |
probably damaging |
Het |
Vmn1r91 |
T |
C |
7: 19,835,983 (GRCm39) |
C301R |
probably damaging |
Het |
Vmn2r90 |
A |
T |
17: 17,933,131 (GRCm39) |
R230S |
possibly damaging |
Het |
Wdfy3 |
T |
A |
5: 102,017,902 (GRCm39) |
E2560V |
probably damaging |
Het |
Zfp273 |
C |
T |
13: 67,973,895 (GRCm39) |
A341V |
probably benign |
Het |
Zfp512 |
C |
T |
5: 31,622,798 (GRCm39) |
A33V |
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 |
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'- AGGGACCATCTGACTCTCTC -3'
(R):5'- TACTTCTGAGGGCAAGCAGAGG -3'
Sequencing Primer
(F):5'- GGGACCATCTGACTCTCTCTCTCTC -3'
(R):5'- GGGGAACATGGGACGTTTC -3'
|
Posted On |
2014-12-04 |