Incidental Mutation 'R7998:Cpne6'
| ID |
616217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| MMRRC Submission |
046038-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7998 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 55753751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 403
(Q403P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073847
(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 |
probably damaging
Transcript: ENSMUST00000074225
AA Change: Q403P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: Q403P
| 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 damaging
Transcript: ENSMUST00000163767
AA Change: Q403P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: Q403P
| 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 damaging
Transcript: ENSMUST00000165262
AA Change: Q403P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: Q403P
| 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 damaging
Transcript: ENSMUST00000171643
AA Change: Q403P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: Q403P
| 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: 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 |
probably benign
Transcript: ENSMUST00000228287
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,818,649 (GRCm39) |
R216C |
probably benign |
Het |
| Acsl3 |
C |
T |
1: 78,671,988 (GRCm39) |
P294L |
probably damaging |
Het |
| Alox12b |
T |
C |
11: 69,059,663 (GRCm39) |
Y572H |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,377,959 (GRCm39) |
D1236G |
probably damaging |
Het |
| Astl |
T |
C |
2: 127,192,419 (GRCm39) |
L254P |
probably damaging |
Het |
| Btbd7 |
A |
C |
12: 102,761,499 (GRCm39) |
L562R |
probably damaging |
Het |
| Chl1 |
T |
C |
6: 103,706,250 (GRCm39) |
V1195A |
probably benign |
Het |
| Ciao2b |
T |
A |
8: 105,367,668 (GRCm39) |
S94C |
probably damaging |
Het |
| Cib1 |
A |
T |
7: 79,878,162 (GRCm39) |
Y105* |
probably null |
Het |
| Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
| Csn1s1 |
A |
G |
5: 87,822,087 (GRCm39) |
N119S |
possibly damaging |
Het |
| Cux2 |
T |
C |
5: 122,006,648 (GRCm39) |
D874G |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,328 (GRCm39) |
F1079Y |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,167,720 (GRCm39) |
Q724H |
possibly damaging |
Het |
| Fbxw16 |
A |
G |
9: 109,265,766 (GRCm39) |
V351A |
probably damaging |
Het |
| G2e3 |
A |
T |
12: 51,400,624 (GRCm39) |
E59D |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm10837 |
G |
T |
14: 122,728,053 (GRCm39) |
|
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr18 |
T |
C |
14: 122,149,393 (GRCm39) |
I211V |
probably benign |
Het |
| Gstm7 |
T |
A |
3: 107,837,657 (GRCm39) |
D98V |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,715,810 (GRCm39) |
Y525C |
probably damaging |
Het |
| Itga7 |
T |
C |
10: 128,770,020 (GRCm39) |
S55P |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,394,909 (GRCm39) |
V1674A |
possibly damaging |
Het |
| Itsn1 |
G |
T |
16: 91,647,824 (GRCm39) |
G893C |
unknown |
Het |
| Kcnc1 |
A |
G |
7: 46,047,223 (GRCm39) |
D41G |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
| Leo1 |
G |
T |
9: 75,352,558 (GRCm39) |
G34C |
probably benign |
Het |
| Map4 |
G |
A |
9: 109,908,929 (GRCm39) |
V1050M |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,236,214 (GRCm39) |
V722A |
probably benign |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mier1 |
T |
C |
4: 103,019,812 (GRCm39) |
F512S |
probably benign |
Het |
| Mix23 |
T |
A |
16: 35,905,403 (GRCm39) |
V65D |
probably benign |
Het |
| Mov10l1 |
T |
A |
15: 88,937,642 (GRCm39) |
V1147E |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,568,478 (GRCm39) |
E409G |
probably benign |
Het |
| Muc16 |
G |
T |
9: 18,551,188 (GRCm39) |
P5035Q |
probably benign |
Het |
| Nemp1 |
C |
A |
10: 127,529,358 (GRCm39) |
S213R |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,731,149 (GRCm39) |
Y360H |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,559,905 (GRCm39) |
V1221A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,899 (GRCm39) |
F765L |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,220,983 (GRCm39) |
L991P |
probably damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,970 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or5ac23 |
T |
A |
16: 59,149,633 (GRCm39) |
M80L |
probably benign |
Het |
| Pla2g7 |
A |
T |
17: 43,922,209 (GRCm39) |
I363L |
probably benign |
Het |
| Ppp2r1a |
T |
C |
17: 21,181,901 (GRCm39) |
F473S |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,428,965 (GRCm39) |
|
probably null |
Het |
| Ptov1 |
A |
G |
7: 44,514,353 (GRCm39) |
V263A |
probably damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,132 (GRCm39) |
V21A |
probably benign |
Het |
| Sdk2 |
T |
A |
11: 113,750,764 (GRCm39) |
I550F |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,061,085 (GRCm39) |
W1133R |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,324,839 (GRCm39) |
L137P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,134,632 (GRCm39) |
V1297A |
probably damaging |
Het |
| Themis2 |
A |
G |
4: 132,519,875 (GRCm39) |
I50T |
probably damaging |
Het |
| Tmprss15 |
C |
A |
16: 78,798,731 (GRCm39) |
L650F |
possibly damaging |
Het |
| Ttc41 |
C |
A |
10: 86,572,711 (GRCm39) |
N694K |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,833,546 (GRCm39) |
Y215H |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,733,653 (GRCm39) |
V4541L |
unknown |
Het |
| Usp32 |
G |
T |
11: 84,885,252 (GRCm39) |
A1265E |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,852,446 (GRCm39) |
D838V |
probably damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,565 (GRCm39) |
I293T |
|
Het |
| Wdr36 |
T |
G |
18: 32,985,572 (GRCm39) |
D496E |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,782,671 (GRCm39) |
N753S |
probably benign |
Het |
| Zmat3 |
T |
C |
3: 32,395,815 (GRCm39) |
R231G |
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 |
|
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 |
|
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'- GACCCGGCATCTGTCCATTTAC -3'
(R):5'- GATGCTCTTTCCAAACCCGG -3'
Sequencing Primer
(F):5'- AGGGACCATCTGACTCTCTC -3'
(R):5'- TTCCAAACCCGGGTCCTGAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation