Incidental Mutation 'R2286:Cdr2l'
| ID |
243310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdr2l
|
| Ensembl Gene |
ENSMUSG00000050910 |
| Gene Name |
cerebellar degeneration-related protein 2-like |
| Synonyms |
D030068L24Rik |
| MMRRC Submission |
040285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R2286 (G1)
|
| Quality Score |
217 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
115272742-115286958 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
GAA to GA
at 115283626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053288]
|
| AlphaFold |
A2A6T1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053288
|
| SMART Domains |
Protein: ENSMUSP00000052096
Gene: ENSMUSG00000050910
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
31 |
143 |
N/A |
INTRINSIC |
|
coiled coil region
|
188 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
303 |
310 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,195,616 (GRCm39) |
R308H |
probably damaging |
Het |
| Alox5ap |
G |
A |
5: 149,222,240 (GRCm39) |
|
probably null |
Het |
| Ap2s1 |
T |
C |
7: 16,482,901 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,512,660 (GRCm39) |
L248P |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,477,786 (GRCm39) |
|
probably null |
Het |
| Eci1 |
A |
G |
17: 24,652,203 (GRCm39) |
D75G |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
A |
G |
17: 26,499,020 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
C |
11: 86,210,515 (GRCm39) |
D542E |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,173,494 (GRCm39) |
S545P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,252 (GRCm39) |
I163V |
probably benign |
Het |
| Rsad2 |
T |
A |
12: 26,500,675 (GRCm39) |
N204I |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,096,571 (GRCm39) |
N592K |
possibly damaging |
Het |
| Sgip1 |
G |
T |
4: 102,724,844 (GRCm39) |
S59I |
possibly damaging |
Het |
| Slc39a5 |
A |
G |
10: 128,231,929 (GRCm39) |
V532A |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,299,612 (GRCm39) |
M123I |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,551 (GRCm39) |
T185A |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,938,079 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,083,203 (GRCm39) |
K1618E |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,815,958 (GRCm39) |
L799P |
probably damaging |
Het |
| Vps26c |
C |
T |
16: 94,313,112 (GRCm39) |
E60K |
possibly damaging |
Het |
|
| Other mutations in Cdr2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Cdr2l
|
APN |
11 |
115,283,564 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01326:Cdr2l
|
APN |
11 |
115,281,796 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01411:Cdr2l
|
APN |
11 |
115,273,192 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01459:Cdr2l
|
APN |
11 |
115,281,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02971:Cdr2l
|
APN |
11 |
115,281,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:Cdr2l
|
UTSW |
11 |
115,284,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Cdr2l
|
UTSW |
11 |
115,285,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1598:Cdr2l
|
UTSW |
11 |
115,284,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1612:Cdr2l
|
UTSW |
11 |
115,284,232 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1919:Cdr2l
|
UTSW |
11 |
115,283,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2090:Cdr2l
|
UTSW |
11 |
115,281,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Cdr2l
|
UTSW |
11 |
115,284,651 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5114:Cdr2l
|
UTSW |
11 |
115,284,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Cdr2l
|
UTSW |
11 |
115,284,396 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6783:Cdr2l
|
UTSW |
11 |
115,284,495 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7156:Cdr2l
|
UTSW |
11 |
115,281,792 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8330:Cdr2l
|
UTSW |
11 |
115,284,939 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8427:Cdr2l
|
UTSW |
11 |
115,284,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Cdr2l
|
UTSW |
11 |
115,284,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Cdr2l
|
UTSW |
11 |
115,284,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:Cdr2l
|
UTSW |
11 |
115,283,537 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACTCTCCACCTTGGTGG -3'
(R):5'- CACCAATGGCTGTCCTTAGC -3'
Sequencing Primer
(F):5'- AGCCTAGCATTTAGTGGCTGAACC -3'
(R):5'- AATGGCTGTCCTTAGCAAGCATC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation