Incidental Mutation 'R7934:Cpne6'
| ID |
648640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpne6
|
| Ensembl Gene |
ENSMUSG00000022212 |
| Gene Name |
copine VI |
| Synonyms |
neuronal copine |
| MMRRC Submission |
045980-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
55747902-55754888 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55750066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 66
(C66R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073847
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074225]
[ENSMUST00000076236]
[ENSMUST00000163767]
[ENSMUST00000165262]
[ENSMUST00000165725]
[ENSMUST00000171643]
[ENSMUST00000226757]
[ENSMUST00000228877]
|
| AlphaFold |
Q9Z140 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074225
AA Change: C66R
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000073847
Gene: ENSMUSG00000022212
AA Change: C66R
| 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 |
possibly damaging
Transcript: ENSMUST00000163767
AA Change: C66R
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126493
Gene: ENSMUSG00000022212
AA Change: C66R
| 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: C66R
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132999
Gene: ENSMUSG00000022212
AA Change: C66R
| 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 damaging
Transcript: ENSMUST00000165725
AA Change: C66R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130799
Gene: ENSMUSG00000022212
AA Change: C66R
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
21 |
126 |
1.22e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171643
AA Change: C66R
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128555
Gene: ENSMUSG00000022212
AA Change: C66R
| 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: ENSMUST00000226757
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228877
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,770 (GRCm39) |
A93V |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,865,865 (GRCm39) |
T296I |
possibly damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,161,962 (GRCm39) |
Y365S |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,067,677 (GRCm39) |
I178F |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,858,899 (GRCm39) |
V44A |
possibly damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,639 (GRCm39) |
I584T |
probably benign |
Het |
| Ccdc171 |
T |
A |
4: 83,614,492 (GRCm39) |
L1031* |
probably null |
Het |
| Cdh17 |
T |
A |
4: 11,799,754 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
C |
16: 4,586,422 (GRCm39) |
T203A |
probably benign |
Het |
| Ceacam1 |
C |
T |
7: 25,163,220 (GRCm39) |
V338I |
possibly damaging |
Het |
| Cep78 |
G |
A |
19: 15,933,754 (GRCm39) |
T608I |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,775,345 (GRCm39) |
|
probably null |
Het |
| Cfap210 |
G |
A |
2: 69,612,450 (GRCm39) |
Q97* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,854,121 (GRCm39) |
T1898A |
probably benign |
Het |
| Creb1 |
G |
A |
1: 64,609,372 (GRCm39) |
A108T |
probably benign |
Het |
| Ctnna3 |
A |
T |
10: 64,421,747 (GRCm39) |
I514F |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,030,535 (GRCm39) |
F456L |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,212 (GRCm39) |
S34P |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,518,618 (GRCm39) |
T378S |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,675 (GRCm39) |
Q297K |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,689,048 (GRCm39) |
N72D |
unknown |
Het |
| Fev |
C |
G |
1: 74,921,632 (GRCm39) |
R106P |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm15130 |
A |
T |
2: 110,964,582 (GRCm39) |
L180Q |
|
Het |
| Greb1l |
A |
T |
18: 10,474,371 (GRCm39) |
K229* |
probably null |
Het |
| Haghl |
G |
T |
17: 26,002,519 (GRCm39) |
T214K |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,308,174 (GRCm39) |
H138R |
probably benign |
Het |
| Ighv1-53 |
G |
T |
12: 115,122,236 (GRCm39) |
Y46* |
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,761,755 (GRCm39) |
T308A |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,946,536 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,501,402 (GRCm39) |
M897K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,727 (GRCm39) |
M2345V |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,773 (GRCm39) |
S137P |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,844,725 (GRCm39) |
S189P |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,143,661 (GRCm39) |
Q351R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,945,032 (GRCm39) |
N65S |
probably damaging |
Het |
| Or1n1 |
A |
G |
2: 36,750,228 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or1p1b |
C |
T |
11: 74,131,326 (GRCm39) |
S312F |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,056,752 (GRCm39) |
W729R |
probably damaging |
Het |
| Oxct2b |
C |
A |
4: 123,010,447 (GRCm39) |
C122* |
probably null |
Het |
| Pdcl3 |
A |
T |
1: 39,026,782 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,616,498 (GRCm39) |
H1294R |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,903 (GRCm39) |
S296R |
probably benign |
Het |
| Ppp1r12c |
G |
A |
7: 4,488,416 (GRCm39) |
Q337* |
probably null |
Het |
| Prr23a4 |
A |
G |
9: 98,785,880 (GRCm39) |
R182G |
possibly damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,312,297 (GRCm39) |
V1006I |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,454,927 (GRCm39) |
D170G |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,548,162 (GRCm39) |
T691A |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,258,518 (GRCm39) |
I307T |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,685,173 (GRCm39) |
V235I |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,708,450 (GRCm39) |
I750F |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,061,448 (GRCm39) |
L282Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,478,702 (GRCm39) |
K183R |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,077 (GRCm39) |
L986Q |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,439 (GRCm39) |
T102S |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,122 (GRCm39) |
T350A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,857,305 (GRCm39) |
S312R |
probably damaging |
Het |
| Zeb1 |
A |
G |
18: 5,748,703 (GRCm39) |
N90S |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,949,308 (GRCm39) |
Y217* |
probably null |
Het |
| Zfp9 |
T |
C |
6: 118,441,847 (GRCm39) |
T272A |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,361 (GRCm39) |
H482Q |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,173 (GRCm39) |
K257N |
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 |
|
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 |
|
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'- AGTACCCCAGATTCAGAAGTCAG -3'
(R):5'- GAGTTGGAATGCAGACCTGG -3'
Sequencing Primer
(F):5'- CCCAGATTCAGAAGTCAGCTAAG -3'
(R):5'- GAATGCAGACCTGGCCCAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation