Incidental Mutation 'IGL01659:Cdr2'
| ID |
103101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdr2
|
| Ensembl Gene |
ENSMUSG00000030878 |
| Gene Name |
cerebellar degeneration-related 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
120556259-120581535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120557772 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 251
(A251E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033169]
[ENSMUST00000140247]
|
| AlphaFold |
P97817 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033169
AA Change: A251E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033169
Gene: ENSMUSG00000030878
AA Change: A251E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
31 |
N/A |
INTRINSIC |
|
coiled coil region
|
37 |
141 |
N/A |
INTRINSIC |
|
coiled coil region
|
191 |
258 |
N/A |
INTRINSIC |
|
coiled coil region
|
345 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
403 |
421 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140247
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile, and overtly normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,360,790 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,622,110 (GRCm39) |
S581P |
probably damaging |
Het |
| Arl13b |
T |
C |
16: 62,623,113 (GRCm39) |
S370G |
possibly damaging |
Het |
| Clec4a4 |
A |
T |
6: 123,000,894 (GRCm39) |
E202D |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,309,568 (GRCm39) |
|
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,492,178 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
G |
6: 29,448,670 (GRCm39) |
T1303A |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,847,619 (GRCm39) |
|
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,714 (GRCm39) |
V227A |
probably damaging |
Het |
| Nf1 |
A |
G |
11: 79,450,275 (GRCm39) |
E487G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,331,034 (GRCm39) |
L454P |
probably damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,529 (GRCm39) |
C169* |
probably null |
Het |
| Rad51 |
T |
A |
2: 118,949,183 (GRCm39) |
I61K |
probably benign |
Het |
| Rfx8 |
A |
T |
1: 39,709,733 (GRCm39) |
H431Q |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,451,377 (GRCm39) |
N2725S |
probably damaging |
Het |
| Trim16 |
A |
G |
11: 62,711,521 (GRCm39) |
E64G |
probably benign |
Het |
| Zfp879 |
T |
C |
11: 50,729,281 (GRCm39) |
Y39C |
probably damaging |
Het |
|
| Other mutations in Cdr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0394:Cdr2
|
UTSW |
7 |
120,557,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0975:Cdr2
|
UTSW |
7 |
120,557,614 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1781:Cdr2
|
UTSW |
7 |
120,557,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1906:Cdr2
|
UTSW |
7 |
120,581,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Cdr2
|
UTSW |
7 |
120,581,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2273:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2274:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2275:Cdr2
|
UTSW |
7 |
120,557,732 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2362:Cdr2
|
UTSW |
7 |
120,569,554 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4783:Cdr2
|
UTSW |
7 |
120,557,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5269:Cdr2
|
UTSW |
7 |
120,557,557 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5403:Cdr2
|
UTSW |
7 |
120,557,968 (GRCm39) |
nonsense |
probably null |
|
|
R5650:Cdr2
|
UTSW |
7 |
120,557,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5923:Cdr2
|
UTSW |
7 |
120,581,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6384:Cdr2
|
UTSW |
7 |
120,581,351 (GRCm39) |
splice site |
probably null |
|
|
R7073:Cdr2
|
UTSW |
7 |
120,581,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9004:Cdr2
|
UTSW |
7 |
120,557,722 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9111:Cdr2
|
UTSW |
7 |
120,559,345 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Posted On |
2014-01-21 |
Incidental Mutation