Incidental Mutation 'R2289:Cplx3'
ID |
244217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cplx3
|
Ensembl Gene |
ENSMUSG00000039714 |
Gene Name |
complexin 3 |
Synonyms |
CpxIII, Lman1l |
MMRRC Submission |
040288-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2289 (G1)
|
Quality Score |
200 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
57507275-57513564 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57520941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 220
(E220V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000093832]
|
AlphaFold |
Q8R1B5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044937
AA Change: E220V
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000041631 Gene: ENSMUSG00000056271 AA Change: E220V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
32 |
256 |
1.2e-53 |
PFAM |
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093832
AA Change: E220V
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000091352 Gene: ENSMUSG00000056271 AA Change: E220V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:Lectin_leg-like
|
32 |
256 |
2.7e-53 |
PFAM |
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are fertile, viable and exhibit normal synaptic transmission. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
Dixdc1 |
A |
G |
9: 50,595,172 (GRCm39) |
|
probably null |
Het |
Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cplx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01784:Cplx3
|
APN |
9 |
57,527,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02268:Cplx3
|
APN |
9 |
57,509,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03164:Cplx3
|
APN |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03226:Cplx3
|
APN |
9 |
57,517,290 (GRCm39) |
missense |
probably benign |
0.43 |
PIT4283001:Cplx3
|
UTSW |
9 |
57,523,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R0555:Cplx3
|
UTSW |
9 |
57,521,384 (GRCm39) |
missense |
probably benign |
0.15 |
R0601:Cplx3
|
UTSW |
9 |
57,513,357 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1168:Cplx3
|
UTSW |
9 |
57,515,595 (GRCm39) |
missense |
probably benign |
0.00 |
R1169:Cplx3
|
UTSW |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
R1591:Cplx3
|
UTSW |
9 |
57,523,085 (GRCm39) |
missense |
probably benign |
0.30 |
R3848:Cplx3
|
UTSW |
9 |
57,515,600 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4685:Cplx3
|
UTSW |
9 |
57,516,483 (GRCm39) |
missense |
probably damaging |
0.98 |
R5170:Cplx3
|
UTSW |
9 |
57,522,902 (GRCm39) |
nonsense |
probably null |
|
R5309:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R5312:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
R5639:Cplx3
|
UTSW |
9 |
57,519,149 (GRCm39) |
missense |
probably benign |
0.24 |
R5655:Cplx3
|
UTSW |
9 |
57,523,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6011:Cplx3
|
UTSW |
9 |
57,523,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
R6113:Cplx3
|
UTSW |
9 |
57,509,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R6250:Cplx3
|
UTSW |
9 |
57,522,907 (GRCm39) |
missense |
probably benign |
0.00 |
R6488:Cplx3
|
UTSW |
9 |
57,527,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6489:Cplx3
|
UTSW |
9 |
57,521,009 (GRCm39) |
splice site |
probably null |
|
R6720:Cplx3
|
UTSW |
9 |
57,521,355 (GRCm39) |
splice site |
probably null |
|
R7000:Cplx3
|
UTSW |
9 |
57,523,231 (GRCm39) |
missense |
probably benign |
0.27 |
R7139:Cplx3
|
UTSW |
9 |
57,522,879 (GRCm39) |
missense |
probably benign |
0.37 |
R8822:Cplx3
|
UTSW |
9 |
57,514,471 (GRCm39) |
missense |
probably benign |
0.00 |
R9794:Cplx3
|
UTSW |
9 |
57,509,522 (GRCm39) |
makesense |
probably null |
|
R9800:Cplx3
|
UTSW |
9 |
57,523,060 (GRCm39) |
missense |
probably damaging |
0.99 |
X0057:Cplx3
|
UTSW |
9 |
57,523,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAATGTGGCCTCCTGATGG -3'
(R):5'- CCATTGTGATCCCTAGCTCTGTAG -3'
Sequencing Primer
(F):5'- AGTGTGACCAGTTCAGGCC -3'
(R):5'- AGTTTCTACCCTACCTCAGGTCTGG -3'
|
Posted On |
2014-10-30 |